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 ATP1A3 478 broad.mit.edu 37 19 42479800 42479800 + Silent SNP G G A rs143307687 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:42479800G>A ENST00000545399.1 - 16 2436 c.2283C>T c.(2281-2283)atC>atT p.I761I ATP1A3_ENST00000602133.1_Silent_p.I718I|ATP1A3_ENST00000543770.1_Silent_p.I759I|ATP1A3_ENST00000302102.5_Silent_p.I748I NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 748 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 CCCCTGTGACGATGGAGGCAA 0.632000 14 43 0 0 0.002450 0 0 OR6Q1 219952 broad.mit.edu 37 11 57799015 57799015 + Silent SNP T T G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:57799015T>G ENST00000302622.3 + 1 614 c.591T>G c.(589-591)acT>acG p.T197T OR9Q1_ENST00000335397.3_Intron NM_001005186.2 NP_001005186.2 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, member 1 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(21;0.0707)|all_epithelial(135;0.142) CAGATGTCACTTGGAAGGAGA 0.502000 4 128 0 0 0.000602 0 0 MPP6 51678 broad.mit.edu 37 7 24663366 24663366 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:24663366G>A ENST00000396475.2 + 3 379 c.80G>A c.(79-81)gGa>gAa p.G27E MPP6_ENST00000409761.1_Intron|MPP6_ENST00000222644.4_Missense_Mutation_p.G27E NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 27 L27 1. protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 TTCCTCAAGGGAATTATGGAG 0.348000 15 51 0 0 0.006122 0 0 C1S 716 broad.mit.edu 37 12 7170352 7170352 + Silent SNP T T A rs150797595 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:7170352T>A ENST00000406697.1 + 7 1000 c.372T>A c.(370-372)gcT>gcA p.A124A C1S_ENST00000328916.3_Silent_p.A124A|C1S_ENST00000360817.5_Silent_p.A124A|C1S_ENST00000402681.3_5'UTR P09871 C1S_HUMAN complement component 1, s subcomponent 124 CUB 1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) CGGGGTTTGCTGCATACTATG 0.438000 19 76 0 0 0.014323 0 0 TRABD2A 129293 broad.mit.edu 37 2 85059191 85059191 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:85059191C>T ENST00000335459.5 - 4 1128 c.923G>A c.(922-924)cGa>cAa p.R308Q TRABD2A_ENST00000409520.2_Missense_Mutation_p.R357Q|TRABD2A_ENST00000479944.1_5'UTR NM_001080824.1 NP_001074293.1 TraB domain containing 2A GTGGATGGGTCGTCCAGCAGG 0.562000 9 52 0 0 0.006214 0 0 CLCA4 22802 broad.mit.edu 37 1 87040246 87040246 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:87040246G>A ENST00000370563.3 + 10 1533 c.1491G>A c.(1489-1491)ctG>ctA p.L497L RP4-651E10.4_ENST00000456587.1_RNA NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 497 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) GATTAACACTGAATAGTAATG 0.348000 17 47 0 0 0.006122 0 0 C10orf120 399814 broad.mit.edu 37 10 124457516 124457516 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:124457516G>A ENST00000329446.4 - 3 772 c.741C>T c.(739-741)ttC>ttT p.F247F NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 247 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) CTTTTGACTTGAAAACTACAT 0.388000 5 33 0 0 0.003080 0 0 ANK3 288 broad.mit.edu 37 10 61834328 61834328 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:61834328C>T ENST00000280772.1 - 37 6502 c.6311G>A c.(6310-6312)gGa>gAa p.G2104E 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) 2104 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 AGTATCTGTTCCAAAAAAGGA 0.408000 13 34 0 0 0.013537 0 0 RANBP2 5903 broad.mit.edu 37 2 109367805 109367805 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:109367805C>T ENST00000283195.6 + 10 1485 c.1359C>T c.(1357-1359)atC>atT p.I453I NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 453 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TACCTGGAATCCGAAAATGGC 0.383000 31 144 0 0 0.007835 0 0 FBXO15 201456 broad.mit.edu 37 18 71740883 71740883 + Missense_Mutation SNP G G A rs146975565 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:71740883G>A ENST00000269500.5 - 10 1453 c.1118C>T c.(1117-1119)tCg>tTg p.S373L FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000419743.2_Missense_Mutation_p.S449L NM_152676.2 NP_689889.1 Q8NCQ5 FBX15_HUMAN F-box protein 15 373 autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 27 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) TGTGGCAGGCGATCTCAGGCA 0.502000 23 127 0 0 0.004656 0 0 DUSP27 92235 broad.mit.edu 37 1 167097064 167097064 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:167097064C>T ENST00000361200.2 + 6 2862 c.2696C>T c.(2695-2697)tCt>tTt p.S899F DUSP27_ENST00000443333.1_Missense_Mutation_p.S899F|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.S899F Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 899 Ser-rich. protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 TTCCGATATTCTTCCCGCAGT 0.502000 12 29 0 0 0.002450 0 0 PTK2 5747 broad.mit.edu 37 8 141675044 141675044 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:141675044G>A ENST00000522684.1 - 31 3147 c.2918C>T c.(2917-2919)cCc>cTc p.P973L PTK2_ENST00000519419.1_Missense_Mutation_p.P1017L|PTK2_ENST00000340930.3_Missense_Mutation_p.P986L|PTK2_ENST00000519465.1_Missense_Mutation_p.P601L|PTK2_ENST00000517887.1_Missense_Mutation_p.P1017L|PTK2_ENST00000430260.2_Missense_Mutation_p.P283L|PTK2_ENST00000538769.1_Missense_Mutation_p.P641L|PTK2_ENST00000517712.1_Missense_Mutation_p.P36L|PTK2_ENST00000521059.1_Missense_Mutation_p.P973L|PTK2_ENST00000395218.2_Missense_Mutation_p.P986L|PTK2_ENST00000535192.1_Missense_Mutation_p.P927L NM_153831.3 NP_722560.1 Q05397 FAK1_HUMAN protein tyrosine kinase 2 973 Interaction with RGNEF (By similarity).|Interaction with TGFB1I1. axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 48 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) TGGTAGGAGGGGAATGGTCTC 0.532000 6 33 0 0 0.004482 0 0 WDR78 79819 broad.mit.edu 37 1 67299299 67299299 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:67299299G>A ENST00000371026.3 - 13 2037 c.1982C>T c.(1981-1983)gCt>gTt p.A661V WDR78_ENST00000431318.1_Missense_Mutation_p.A407V NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 661 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 CATTCCAGGAGCCTGTCGAGA 0.343000 9 31 0 0 0.004482 0 0 BAI3 577 broad.mit.edu 37 6 70065752 70065752 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:70065752G>A ENST00000370598.1 + 28 4416 c.3595_splice c.e28+1 p.V1199_splice BAI3_ENST00000546190.1_Splice_Site_p.V163_splice|BAI3_ENST00000238918.8_Splice_Site_p.V405_splice NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1199 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.V1199L(1) 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) CTGTCGATCAGGTAAGAATAT 0.289000 45 100 0 0 0.014410 0 0 NUTM1 256646 broad.mit.edu 37 15 34646835 34646835 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:34646835G>A ENST00000537011.1 + 6 1646 c.1264G>A c.(1264-1266)Gaa>Aaa p.E422K NUTM1_ENST00000333756.4_Missense_Mutation_p.E394K|NUTM1_ENST00000438749.3_Missense_Mutation_p.E412K NUT midline carcinoma, family member 1 AAAACAAGAGGAAGAAGGGCA 0.517000 14 72 0 0 0.002450 0 0 CTNNA3 29119 broad.mit.edu 37 10 67862927 67862927 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:67862927C>T ENST00000433211.1 - 14 2139 c.1965G>A c.(1963-1965)ggG>ggA p.G655G CTNNA3_ENST00000373744.4_Silent_p.G655G NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 655 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 TATCAGTTTTCCCTTCGGTCT 0.493000 14 21 0 0 0.003163 0 0 RBP3 5949 broad.mit.edu 37 10 48387922 48387922 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:48387922C>T ENST00000224600.4 - 1 3069 c.2956G>A c.(2956-2958)Ggg>Agg p.G986R NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 986 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) AGGTCAGCCCCCAGGATCTCG 0.617000 13 51 0 0 0.002450 0 0 TTN 7273 broad.mit.edu 37 2 179423307 179423307 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179423307G>A ENST00000589042.1 - 327 87103 c.86879C>T c.(86878-86880)tCc>tTc p.S28960F TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S19895F|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S20020F|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S26392F|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S20087F|TTN_ENST00000591111.1_Missense_Mutation_p.S27319F|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27319 Ig-like 133. 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) CCAGGTCAGGGAAACACTGTC 0.388000 7 23 0 0 0.001984 0 0 COL12A1 1303 broad.mit.edu 37 6 75828869 75828869 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:75828869A>G ENST00000322507.8 - 46 7553 c.7244T>C c.(7243-7245)tTg>tCg p.L2415S COL12A1_ENST00000483888.2_Missense_Mutation_p.L2415S|COL12A1_ENST00000345356.6_Missense_Mutation_p.L1251S|COL12A1_ENST00000416123.2_Missense_Mutation_p.L2415S NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2415 VWFA 4. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CTCCCAAGTCAAGACTTTCTC 0.493000 24 38 0 0 0.002780 0 0 TTN 7273 broad.mit.edu 37 2 179438107 179438107 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179438107C>T ENST00000589042.1 - 326 72976 c.72752G>A c.(72751-72753)gGa>gAa p.G24251E TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G15186E|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G15311E|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G21683E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G15378E|TTN_ENST00000591111.1_Missense_Mutation_p.G22610E|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22610 Fibronectin type-III 76. 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) GATTTCACTTCCACCATCAGA 0.408000 7 48 0 0 0.004482 0 0 VAV3 10451 broad.mit.edu 37 1 108313335 108313335 + Missense_Mutation SNP C C T rs140605941 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:108313335C>T ENST00000370056.4 - 6 845 c.571G>A c.(571-573)Gat>Aat p.D191N VAV3_ENST00000371846.4_Missense_Mutation_p.D126N|VAV3_ENST00000527011.1_Missense_Mutation_p.D191N|VAV3_ENST00000343258.4_5'UTR NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 191 angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) CTTCGTATATCATTTTCTGGA 0.294000 44 76 0 0 0.014410 0 0 PLOD2 5352 broad.mit.edu 37 3 145796908 145796908 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:145796908C>T ENST00000282903.5 - 13 1672 c.1495G>A c.(1495-1497)Gaa>Aaa p.E499K PLOD2_ENST00000360060.3_Missense_Mutation_p.E499K|PLOD2_ENST00000461497.1_Missense_Mutation_p.E159K|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Missense_Mutation_p.E444K NM_182943.2 NP_891988.1 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 499 protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) CTTACCATTTCTCTAGCATTT 0.398000 25 91 0 0 0.008361 0 0 PRDM16 63976 broad.mit.edu 37 1 3102925 3102925 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:3102925C>T ENST00000378398.3 + 2 356 c.274C>T c.(274-276)Cca>Tca p.P92S PRDM16_ENST00000514189.1_Missense_Mutation_p.P92S|PRDM16_ENST00000511072.1_Missense_Mutation_p.P92S|PRDM16_ENST00000442529.2_Missense_Mutation_p.P92S|PRDM16_ENST00000441472.2_Missense_Mutation_p.P92S|PRDM16_ENST00000378391.2_Missense_Mutation_p.P92S|PRDM16_ENST00000270722.5_Missense_Mutation_p.P92S Q9HAZ2 PRD16_HUMAN PR domain containing 16 92 SET. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GTCCTCCATCCCAGGGGCTGG 0.662000 T EVI1 """MDS, AML""" 20 49 0 0 0.012319 0 0 SSTR3 6753 broad.mit.edu 37 22 37602955 37602955 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:37602955G>A ENST00000328544.3 - 2 1421 c.888C>T c.(886-888)ttC>ttT p.F296F SSTR3_ENST00000402501.1_Silent_p.F296F NM_001051.3 NP_001042.1 P32745 SSR3_HUMAN somatostatin receptor 3 296 G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14 CCACCACCAGGAAGTAGAGCC 0.607000 12 60 0 0 0.013537 0 0 PHLPP2 23035 broad.mit.edu 37 16 71712746 71712746 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:71712746C>T ENST00000393524.2 - 7 1913 c.1180G>A c.(1180-1182)Gat>Aat p.D394N PHLPP2_ENST00000567016.1_Missense_Mutation_p.D429N|PHLPP2_ENST00000568954.1_Missense_Mutation_p.D394N|PHLPP2_ENST00000356272.3_Missense_Mutation_p.D394N|PHLPP2_ENST00000360429.3_Missense_Mutation_p.D394N Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 394 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 ACCACTCTATCTAACATAGTG 0.398000 7 48 0 0 0.001984 0 0 PCDHA11 56138 broad.mit.edu 37 5 140248751 140248751 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140248751C>T ENST00000398640.2 + 1 63 c.63C>T c.(61-63)ctC>ctT p.L21L PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_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) TTCTCCTCCTCGAATTCTGGG 0.577000 7 51 0 0 0.003080 0 0 GABRR3 200959 broad.mit.edu 37 3 97726707 97726707 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:97726707C>T ENST00000472788.1 - 0 656 NM_001105580.2 NP_001099050.1 A8MPY1 GBRR3_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 3 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity large_intestine(2)|lung(1) 3 GACTTGTTTCCGTGTTTCCAG 0.373000 5 9 0 0 0.000602 0 0 PVR 5817 broad.mit.edu 37 19 45153195 45153195 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:45153195C>T ENST00000425690.3 + 3 841 c.542C>T c.(541-543)tCa>tTa p.S181L PVR_ENST00000406449.4_Missense_Mutation_p.S181L|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000344956.4_Missense_Mutation_p.S181L|PVR_ENST00000403059.4_Missense_Mutation_p.S181L NM_006505.3 NP_006496.3 P15151 PVR_HUMAN poliovirus receptor 181 Ig-like C2-type 1. adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus cell adhesion molecule binding|receptor activity large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 6 Lung NSC(12;0.00608)|all_lung(12;0.0148) Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112) Epithelial(262;0.000601) ACCTGGCACTCAGACCTGGGC 0.632000 44 196 0 0 0.009718 0 0 MRGPRD 116512 broad.mit.edu 37 11 68747545 68747545 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:68747545G>A ENST00000309106.3 - 1 910 c.911C>T c.(910-912)cCc>cTc p.P304L NM_198923.2 NP_944605.2 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 304 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2) 22 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TTCCAGCTCGGGCTCCTCGCG 0.682000 26 49 0 0 0.004656 0 0 FER1L6 654463 broad.mit.edu 37 8 125082726 125082726 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:125082726G>A ENST00000522917.1 + 30 4059 c.3853G>A c.(3853-3855)Gag>Aag p.E1285K FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.E1285K NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1285 integral to membrane 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) CGGTGATCTCGAGAGTGAATT 0.418000 16 99 0 0 0.007413 0 0 THSD7B 80731 broad.mit.edu 37 2 138413174 138413174 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:138413174G>A ENST00000409968.1 + 22 4227 c.4049G>A c.(4048-4050)gGa>gAa p.G1350E THSD7B_ENST00000272643.3_Missense_Mutation_p.G1353E|THSD7B_ENST00000413152.2_Missense_Mutation_p.G1322E|THSD7B_ENST00000543459.1_Intron 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) GCACTGTGTGGAGAAATGCCC 0.537000 9 18 0 0 0.004482 0 0 KALRN 8997 broad.mit.edu 37 3 123946904 123946904 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:123946904C>T ENST00000360013.3 + 2 262 c.135C>T c.(133-135)ttC>ttT p.F45F KALRN_ENST00000460856.1_Silent_p.F45F|KALRN_ENST00000240874.3_Silent_p.F45F NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 45 CRAL-TRIO. 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 p.F45F(2) 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 AGGTGGCCTTCGTGTCTGGTG 0.448000 39 90 0 0 0.008740 0 0 CSPG4 1464 broad.mit.edu 37 15 75977570 75977570 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:75977570G>A ENST00000308508.5 - 4 4354 c.4262C>T c.(4261-4263)tCc>tTc p.S1421F NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 1421 Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 CATTCTCCAGGAGAAGGCGCT 0.662000 19 70 0 0 0.008871 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94897975 94897975 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:94897975G>A ENST00000289495.5 + 11 2929 c.2713G>A c.(2713-2715)Gat>Aat p.D905N PPP1R9A_ENST00000424654.1_Missense_Mutation_p.D905N|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.D905N|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.D905N|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.D905N|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.D927N NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 905 Interacts with TGN38 (By similarity). cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) AAGACTGTATGATAGTGTTAG 0.483000 HNSCC(28;0.073) 11 33 0 0 0.013537 0 0 TTN 7273 broad.mit.edu 37 2 179592867 179592867 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179592867C>T ENST00000589042.1 - 67 19908 c.19684G>A c.(19684-19686)Gat>Aat p.D6562N TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D5318N|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D6245N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6245 Ig-like 47. 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) CTGCATGCATCATCTCCTGCT 0.383000 6 17 0 0 0.001984 0 0 SLC24A2 25769 broad.mit.edu 37 9 19786487 19786487 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:19786487G>A ENST00000341998.2 - 1 439 c.378C>T c.(376-378)tcC>tcT p.S126S SLC24A2_ENST00000286344.3_Silent_p.S126S NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 126 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) TCTCCTCAAGGGAAAAGATGT 0.438000 43 51 0 0 0.009718 0 0 PTPRK 5796 broad.mit.edu 37 6 128403761 128403761 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:128403761G>A ENST00000368227.3 - 10 1964 c.1598C>T c.(1597-1599)tCa>tTa p.S533L PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.S533L|PTPRK_ENST00000368226.4_Missense_Mutation_p.S533L|PTPRK_ENST00000532331.1_Missense_Mutation_p.S533L|PTPRK_ENST00000368215.3_Missense_Mutation_p.S533L|PTPRK_ENST00000368213.5_Missense_Mutation_p.S533L|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368207.3_Missense_Mutation_p.S533L Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 533 Fibronectin type-III 3. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) AGGATCAAATGATCTTATACT 0.368000 12 24 0 0 0.001855 0 0 PACS1 55690 broad.mit.edu 37 11 65988658 65988658 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:65988658C>T ENST00000320580.4 + 10 1266 c.1233C>T c.(1231-1233)tcC>tcT p.S411S NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 411 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 AGTCCAGCTCCCAGACGGAGA 0.622000 28 64 0 0 0.009535 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215259 140215259 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140215259G>A ENST00000525929.1 + 1 1291 c.1291G>A c.(1291-1293)Ggc>Agc p.G431S PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.G431S|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGGGACGGGGGCTCGCCTTC 0.627000 20 67 0 0 0.010504 0 0 C11orf85 283129 broad.mit.edu 37 11 64717230 64717230 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:64717230C>T ENST00000536065.1 - 6 1320 c.16G>A c.(16-18)Gaa>Aaa p.E6K C11orf85_ENST00000432175.1_Missense_Mutation_p.E112K|C11orf85_ENST00000301896.5_Missense_Mutation_p.E112K|C11orf85_ENST00000530444.1_Intron Q3KP22 CK085_HUMAN chromosome 11 open reading frame 85 112 breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2) 7 GACAGGTTTTCATGGAACCAT 0.433000 28 51 0 0 0.008361 0 0 CFH 3075 broad.mit.edu 37 1 196715117 196715117 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:196715117C>T ENST00000367429.4 + 21 3721 c.3481C>T c.(3481-3483)Cca>Tca p.P1161S NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 1161 Sushi 19. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 GTCAGAACCACCAAAATGCTT 0.368000 8 23 0 0 0.001855 0 0 GPR39 2863 broad.mit.edu 37 2 133175434 133175434 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:133175434G>A ENST00000329321.3 + 1 1288 c.819G>A c.(817-819)gaG>gaA p.E273E NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 273 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 AGAGCGAAGAGAGCAGGACCG 0.622000 19 63 0 0 0.012319 0 0 KNDC1 85442 broad.mit.edu 37 10 135020700 135020700 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:135020700C>T ENST00000304613.3 + 20 3660 c.3639C>T c.(3637-3639)atC>atT p.I1213I KNDC1_ENST00000368572.2_Silent_p.I1215I|KNDC1_ENST00000368571.2_3'UTR Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 1213 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) TCGTGAACATCGCGGCCGCAC 0.672000 5 18 0 0 0.000602 0 0 C7 730 broad.mit.edu 37 5 40955534 40955534 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:40955534G>A ENST00000313164.9 + 10 1498 c.1139G>A c.(1138-1140)gGa>gAa p.G380E NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 380 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) ATCAGAGGGGGAGGTGCAGGC 0.423000 29 74 0 0 0.003271 0 0 ABCB1 5243 broad.mit.edu 37 7 87148741 87148741 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:87148741G>A ENST00000265724.3 - 24 3245 c.2828C>T c.(2827-2829)tCc>tTc p.S943F ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.S879F NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 943 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CTGGGTGAAGGAAAATGTAAT 0.383000 21 32 0 0 0.008871 0 0 DYRK3 8444 broad.mit.edu 37 1 206821851 206821851 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:206821851C>T ENST00000367106.1 + 4 1721 c.1248C>T c.(1246-1248)tcC>tcT p.S416S DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Silent_p.S436S|DYRK3_ENST00000367108.3_Silent_p.S416S O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 436 Protein kinase. erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2) 25 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) TGGAGCAATCCAAACGTGCCA 0.537000 67 169 0 0 0.014410 0 0 ATP6V1G3 127124 broad.mit.edu 37 1 198498311 198498311 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:198498311C>T ENST00000309309.7 - 4 234 c.128_splice c.e4-1 p.W43_splice ATP6V1G3_ENST00000281087.2_Splice_Site_p.R28_splice|ATP6V1G3_ENST00000489986.1_Splice_Site_p.G34_splice|ATP6V1G3_ENST00000367381.1_Splice_Site_p.G34_splice|ATP6V1G3_ENST00000367382.1_Splice_Site_p.R28_splice NM_133326.1 NP_579872.1 Q96LB4 VATG3_HUMAN ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 0 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex ATPase binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1) 7 CTTTCCTTTTCCTGAAAATTA 0.254000 17 52 0 0 0.004007 0 0 GPR112 139378 broad.mit.edu 37 X 135428876 135428876 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:135428876C>T ENST00000394143.1 + 6 3302 c.3011C>T c.(3010-3012)tCc>tTc p.S1004F GPR112_ENST00000412101.1_Missense_Mutation_p.S799F|GPR112_ENST00000394141.1_Missense_Mutation_p.S799F|GPR112_ENST00000287534.4_Missense_Mutation_p.S941F|GPR112_ENST00000370652.1_Missense_Mutation_p.S1004F NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1004 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GCTGCTCATTCCTCAGCAACC 0.493000 58 26 0 0 0.014410 0 0 OR7D2 162998 broad.mit.edu 37 19 9296697 9296697 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9296697G>A ENST00000344248.2 + 1 419 c.240G>A c.(238-240)aaG>aaA p.K80K NM_175883.2 NP_787079.1 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, member 2 80 regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 20 TCGTCCCCAAGATGCTGGTGA 0.512000 40 79 0 0 0.008740 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140753757 140753757 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140753757C>T ENST00000517434.1 + 1 107 c.107C>T c.(106-108)cCc>cTc p.P36L PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TACTCTATTCCCGAGGAGCTG 0.657000 9 11 0 0 0.008291 0 0 COL7A1 1294 broad.mit.edu 37 3 48621767 48621767 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:48621767G>A ENST00000328333.8 - 36 4268 c.4161C>T c.(4159-4161)ccC>ccT p.P1387P COL7A1_ENST00000454817.1_Silent_p.P1387P NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1387 Interrupted collagenous region.|Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGGGGCCACGGGGTCCTGGGT 0.617000 6 11 0 0 0.001984 0 0 IFRD2 7866 broad.mit.edu 37 3 50329948 50329948 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:50329948G>A ENST00000336089.4 - 3 309 c.310C>T c.(310-312)Cag>Tag p.Q104* IFRD2_ENST00000436390.1_5'UTR|IFRD2_ENST00000417626.2_5'UTR Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 0 binding breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CCAGAGGCCTGAGCGCGCAGG 0.657000 18 37 0 0 0.008871 0 0 TTLL2 83887 broad.mit.edu 37 6 167754924 167754924 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:167754924G>A ENST00000239587.5 + 3 1624 c.1536G>A c.(1534-1536)cgG>cgA p.R512R NM_031949.4 NP_114155.4 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 512 protein modification process ATP binding|tubulin-tyrosine ligase activity central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) CCAAGTTACGGAGCAGGCACA 0.577000 11 49 0 0 0.002450 0 0 WIZ 58525 broad.mit.edu 37 19 15536289 15536289 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:15536289G>A ENST00000389282.4 - 7 4156 c.3943C>T c.(3943-3945)Ccc>Tcc p.P1315S WIZ_ENST00000263381.6_Missense_Mutation_p.P458S|WIZ_ENST00000599910.1_Missense_Mutation_p.P632S|WIZ_ENST00000599686.2_Missense_Mutation_p.P499S|WIZ_ENST00000545156.1_Missense_Mutation_p.P629S O95785 WIZ_HUMAN widely interspaced zinc finger motifs 1315 nucleus zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 24 CCAGCCAGGGGCGACAGCGGC 0.726000 3 5 0 0 0.004672 0 0 TARSL2 123283 broad.mit.edu 37 15 102242448 102242448 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:102242448G>A ENST00000335968.3 - 9 1431 c.1215C>T c.(1213-1215)atC>atT p.I405I NM_152334.2 NP_689547.2 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 405 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1) 29 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ATACCTTCCCGATCTTCCTGT 0.393000 27 52 0 0 0.008361 0 0 LINC00639 283547 broad.mit.edu 37 14 39304946 39304946 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:39304946G>A ENST00000553932.1 - 0 3616 AGTGTTAGCAGTGAGGGAAGG 0.527000 5 5 0 0 0.001168 0 0 SLC38A5 92745 broad.mit.edu 37 X 48320628 48320628 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:48320628G>A ENST00000376876.3 - 9 1467 c.624C>T c.(622-624)ttC>ttT p.F208F SLC38A5_ENST00000376875.1_Silent_p.F157F|SLC38A5_ENST00000317669.5_Silent_p.F208F Q8WUX1 S38A5_HUMAN solute carrier family 38, member 5 208 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1) 19 CCGAAACAAGGAAAAACAGCA 0.557000 3 11 0 0 0.004672 0 0 TGM5 9333 broad.mit.edu 37 15 43552323 43552323 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:43552323G>A ENST00000220420.5 - 3 370 c.363C>T c.(361-363)atC>atT p.I121I TGM5_ENST00000349114.4_Intron NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 121 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) GGAAGGAGTCGATGTGGATTT 0.627000 27 48 0 0 0.007291 0 0 PVALB 5816 broad.mit.edu 37 22 37209712 37209712 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:37209712C>T ENST00000216200.5 - 4 337 c.282G>A c.(280-282)ggG>ggA p.G94G PVALB_ENST00000417718.2_Silent_p.G94G|PVALB_ENST00000404171.1_Silent_p.G62G NM_002854.2 NP_002845.1 P20472 PRVA_HUMAN parvalbumin 94 EF-hand 2. calcium ion binding large_intestine(1)|lung(1)|skin(1) 3 TTTTGCCGTCCCCATCTTTGT 0.507000 28 96 0 0 0.012213 0 0 TRRAP 8295 broad.mit.edu 37 7 98565207 98565207 + Silent SNP C C T rs139721649 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:98565207C>T ENST00000359863.4 + 50 7586 c.7377C>T c.(7375-7377)ttC>ttT p.F2459F TRRAP_ENST00000446306.3_Silent_p.F2441F|TRRAP_ENST00000355540.3_Silent_p.F2441F NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 2459 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity p.F2441F(2)|p.F2459F(1) NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CAAAGTTTTTCGAGGTTTTTG 0.552000 15 61 0 0 0.002450 0 0 SRPX2 27286 broad.mit.edu 37 X 99917354 99917354 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:99917354C>T ENST00000373004.3 + 4 773 c.345C>T c.(343-345)gcC>gcT p.A115A NM_014467.2 NP_055282.1 O60687 SRPX2_HUMAN sushi-repeat containing protein, X-linked 2 115 Sushi 1. angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation cytoplasm|extracellular region receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1) 19 CTGGAACTGCCTACTGCAGGC 0.562000 54 26 0 0 0.014410 0 0 FRMD5 84978 broad.mit.edu 37 15 44166556 44166556 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:44166556C>T ENST00000417257.1 - 14 1416 c.1240G>A c.(1240-1242)Gag>Aag p.E414K FRMD5_ENST00000484674.1_Missense_Mutation_p.E320K|FRMD5_ENST00000402883.1_Missense_Mutation_p.E414K NM_032892.3 NP_116281.2 Q7Z6J6 FRMD5_HUMAN FERM domain containing 5 414 cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275) all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06) GCTACTCGCTCATTGCTATCT 0.597000 13 43 0 0 0.002450 0 0 TRAT1 50852 broad.mit.edu 37 3 108568080 108568080 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:108568080G>A ENST00000295756.6 + 5 512 c.282G>A c.(280-282)caG>caA p.Q94Q TRAT1_ENST00000426646.1_Silent_p.Q57Q NM_016388.2 NP_057472.2 Q6PIZ9 TRAT1_HUMAN T cell receptor associated transmembrane adaptor 1 94 cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 ATAAGATGCAGGAAGCCACCC 0.368000 12 34 0 0 0.013537 0 0 SLC7A13 157724 broad.mit.edu 37 8 87241866 87241866 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:87241866C>T ENST00000297524.3 - 1 744 c.641G>A c.(640-642)gGa>gAa p.G214E SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.G214E NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 214 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 TGCAAAATATCCTTGGAAGAT 0.363000 6 49 0 0 0.003080 0 0 DEFB113 245927 broad.mit.edu 37 6 49936573 49936573 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:49936573C>T ENST00000398718.1 - 2 65 c.66G>A c.(64-66)caG>caA p.Q22Q NM_001037729.1 NP_001032818.1 Q30KQ7 DB113_HUMAN defensin, beta 113 22 defense response to bacterium extracellular region breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 7 Lung NSC(77;0.042) TTGTTTTTTTCTGTGGAACTA 0.348000 5 19 0 0 0.000602 0 0 LUZP2 338645 broad.mit.edu 37 11 25004772 25004772 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:25004772C>T ENST00000533227.1 + 9 727 c.440C>T c.(439-441)cCa>cTa p.P147L LUZP2_ENST00000336930.6_Missense_Mutation_p.P233L NM_001009909.3|NM_001252008.1 NP_001009909.2|NP_001238937.1 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 233 extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 ACATCAAATCCAACTCGGATG 0.453000 25 38 0 0 0.003330 0 0 DEGS2 123099 broad.mit.edu 37 14 100615378 100615378 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:100615378C>T ENST00000305631.5 - 2 1327 c.752G>A c.(751-753)tGg>tAg p.W251* DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR NM_206918.2 NP_996801.2 Q6QHC5 DEGS2_HUMAN delta(4)-desaturase, sphingolipid 2 251 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane sphingosine hydroxylase activity breast(1)|lung(6)|skin(1) 8 Melanoma(154;0.212) GAAGGTGATCCAGTTGAGAGG 0.632000 19 96 0 0 0.007413 0 0 SDPR 8436 broad.mit.edu 37 2 192700913 192700913 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:192700913G>A ENST00000304141.4 - 2 1343 c.1014C>T c.(1012-1014)tcC>tcT p.S338S NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 338 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) GGGACGCTTCGGAATGACCCT 0.562000 32 62 0 0 0.013726 0 0 CLCN1 1180 broad.mit.edu 37 7 143016884 143016884 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:143016884G>A ENST00000343257.2 + 2 304 c.217G>A c.(217-219)Gag>Aag p.E73K NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 73 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) CTCAGACAGGGAGCAGGACAT 0.463000 12 60 0 0 0.010729 0 0 SPRED3 399473 broad.mit.edu 37 19 38881044 38881044 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:38881044C>T ENST00000338502.4 + 1 205 c.102C>T c.(100-102)gtC>gtT p.V34V SPRED3_ENST00000586301.1_Silent_p.V34V|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000587013.1_Intron NM_001042522.1 NP_001035987.1 Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 34 WH1. multicellular organismal development central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1) 9 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TGTGTCGGGTCCGAGGGGCCA 0.731000 9 12 0 0 0.004482 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27998043 27998043 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:27998043G>A ENST00000441525.1 - 1 1523 c.1409C>T c.(1408-1410)tCc>tTc p.S470F NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 470 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 GATGATCTGGGAGGATGATTT 0.493000 5 4 0 0 0.000602 0 0 C1orf127 148345 broad.mit.edu 37 1 11024217 11024217 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:11024217C>T ENST00000377004.4 - 5 483 c.484G>A c.(484-486)Gaa>Aaa p.E162K C1orf127_ENST00000377008.4_Missense_Mutation_p.E13K NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 13 p.E13K(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) TGGACGCTTTCCTGGCCCAGC 0.562000 18 41 0 0 0.008871 0 0 SMYD1 150572 broad.mit.edu 37 2 88396129 88396129 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:88396129C>T ENST00000419482.2 + 6 799 c.714C>T c.(712-714)gcC>gcT p.A238A SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.A225A NM_198274.3 NP_938015.1 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 238 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 AGCTCCGGGCCCTAGGCAAGA 0.507000 20 98 0 0 0.014323 0 0 FAT4 79633 broad.mit.edu 37 4 126329794 126329794 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:126329794G>A ENST00000394329.3 + 4 5778 c.5765G>A c.(5764-5766)gGg>gAg p.G1922E FAT4_ENST00000335110.5_Missense_Mutation_p.G220E NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1922 Cadherin 18. 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 GAAGATGGTGGGGGACAATTT 0.338000 18 18 0 0 0.008871 0 0 NINL 22981 broad.mit.edu 37 20 25460821 25460821 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:25460821G>A ENST00000278886.6 - 15 1966 c.1893C>T c.(1891-1893)gaC>gaT p.D631D NINL_ENST00000422516.1_Silent_p.D631D NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 631 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 GGGTCCTGAGGTCTTGGTAAT 0.547000 11 43 0 0 0.001855 0 0 RPAP1 26015 broad.mit.edu 37 15 41817242 41817242 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:41817242G>A ENST00000304330.4 - 15 2138 c.2022C>T c.(2020-2022)gcC>gcT p.A674A RPAP1_ENST00000561603.1_Silent_p.A674A NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 674 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) ACAGACGGAGGGCCTCGGTGC 0.627000 4 40 0 0 0.009096 0 0 LRRK1 79705 broad.mit.edu 37 15 101598270 101598270 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:101598270G>A ENST00000284395.5 + 30 4994 c.4594G>A c.(4594-4596)Ggg>Agg p.G1532R RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.G1535R Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1535 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ACTGTGCTGTGGGAAGCAGAC 0.582000 5 46 0 0 0.000602 0 0 FBLN1 2192 broad.mit.edu 37 22 45970511 45970511 + Missense_Mutation SNP C C G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:45970511C>G ENST00000327858.6 + 15 1913 c.1818C>G c.(1816-1818)ttC>ttG p.F606L FBLN1_ENST00000348697.2_Intron NM_006486.2 NP_006477.2 P23142 FBLN1_HUMAN fibulin 1 606 interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TGCCTACCTTCCGCGAGTTCA 0.652000 8 18 0 0 0.004482 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5235159 5235159 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:5235159C>T ENST00000274181.7 + 13 2021 c.1883C>T c.(1882-1884)tCc>tTc p.S628F ADAMTS16_ENST00000513709.1_3'UTR NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 628 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 TGTGAGGGCTCCACTCGCACT 0.453000 7 41 0 0 0.004482 0 0 SULT1C3 442038 broad.mit.edu 37 2 108881739 108881739 + Missense_Mutation SNP G G A rs142520746 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:108881739G>A ENST00000329106.2 + 7 847 c.847G>A c.(847-849)Gaa>Aaa p.E283K NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 283 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 GGCCCAAAATGAAGAATTTGA 0.468000 17 59 0 0 0.006122 0 0 CDHR3 222256 broad.mit.edu 37 7 105636705 105636705 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:105636705C>T ENST00000542731.1 + 6 726 c.618C>T c.(616-618)ctC>ctT p.L206L CDHR3_ENST00000317716.9_Silent_p.L206L|CDHR3_ENST00000478080.1_Silent_p.L118L|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000541203.1_Intron|CDHR3_ENST00000343407.5_5'UTR Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 206 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 GTTTCCATCTCATCGTGGAGG 0.527000 3 8 0 0 0.004672 0 0 RYR1 6261 broad.mit.edu 37 19 38951140 38951140 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:38951140G>A ENST00000355481.4 + 20 2617 c.2486G>A c.(2485-2487)cGa>cAa p.R829Q RYR1_ENST00000359596.3_Missense_Mutation_p.R829Q|RYR1_ENST00000360985.3_Missense_Mutation_p.R829Q NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 829 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) AAGGAGTATCGACGGGAGGGG 0.627000 50 62 0 0 0.014410 0 0 ADCY7 113 broad.mit.edu 37 16 50325802 50325802 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:50325802G>A ENST00000394697.2 + 4 871 c.531G>A c.(529-531)ggG>ggA p.G177G ADCY7_ENST00000564044.1_Intron|ADCY7_ENST00000537579.1_Silent_p.G177G|ADCY7_ENST00000254235.3_Silent_p.G177G|ADCY7_ENST00000566433.2_Silent_p.G177G|ADCY7_ENST00000538642.1_Silent_p.G177G P51828 ADCY7_HUMAN adenylate cyclase 7 177 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) TCCGGGTGGGGCTGCAGGTGA 0.662000 11 26 0 0 0.013537 0 0 PNLIP 5406 broad.mit.edu 37 10 118313319 118313319 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:118313319G>A ENST00000369221.2 + 6 568 c.540G>A c.(538-540)agG>agA p.R180R NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase 180 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) AGGCTGGAAGGAGAACCAATG 0.537000 8 26 0 0 0.006214 0 0 MCTP2 55784 broad.mit.edu 37 15 95019957 95019957 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:95019957C>T ENST00000357742.4 + 21 2503 c.2503C>T c.(2503-2505)Ccc>Tcc p.P835S MCTP2_ENST00000451018.3_Missense_Mutation_p.P780S|MCTP2_ENST00000449432.3_3'UTR NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 835 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) GCTTCGAAATCCCTATTCCAT 0.378000 18 34 0 0 0.010504 0 0 PID1 55022 broad.mit.edu 37 2 229890656 229890656 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:229890656C>T ENST00000392054.3 - 4 778 c.439G>A c.(439-441)Gac>Aac p.D147N PID1_ENST00000354069.6_Missense_Mutation_p.D149N|PID1_ENST00000392055.3_Missense_Mutation_p.D116N|PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Missense_Mutation_p.D67N NM_017933.4 NP_060403.3 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 149 PID. cytoplasm breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) CCTTTGTGGTCGAGATGATGG 0.587000 11 46 0 0 0.001855 0 0 SNRK 54861 broad.mit.edu 37 3 43389194 43389194 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:43389194G>A ENST00000296088.7 + 7 1747 c.1443G>A c.(1441-1443)aaG>aaA p.K481K SNRK_ENST00000437827.1_Silent_p.K275K|SNRK_ENST00000429705.2_Silent_p.K481K|SNRK_ENST00000454177.1_Silent_p.K481K NM_017719.4 NP_060189.3 Q9NRH2 SNRK_HUMAN SNF related kinase 481 myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) CATCCAGGAAGAGTGCGCCCG 0.502000 37 79 0 0 0.010771 0 0 ABCB11 8647 broad.mit.edu 37 2 169780224 169780224 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:169780224C>T ENST00000263817.6 - 28 3998 c.3874G>A c.(3874-3876)Ggg>Agg p.G1292R NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 1292 ABC transporter 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) ATCACCACCCCCTGTGCCATG 0.527000 18 32 0 0 0.006122 0 0 GLB1L3 112937 broad.mit.edu 37 11 134183908 134183908 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:134183908G>A ENST00000431683.2 + 17 1653 c.1653G>A c.(1651-1653)atG>atA p.M551I NM_001080407.2 NP_001073876.2 Q8NCI6 GLBL3_HUMAN galactosidase, beta 1-like 3 551 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1) 13 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) AGATGAAAATGAGCTTCTTTG 0.478000 8 9 0 0 0.003080 0 0 FAM47C 442444 broad.mit.edu 37 X 37027036 37027036 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:37027036G>A ENST00000358047.3 + 1 605 c.553G>A c.(553-555)Gaa>Aaa p.E185K NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 185 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 CCCCTGTGGGGAATTCTCCCC 0.647000 6 2 0 0 0.001984 0 0 TMEM239 100288797 broad.mit.edu 37 20 2795880 2795880 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:2795880C>T ENST00000554164.1 + 2 133 c.50C>T c.(49-51)cCa>cTa p.P17L C20orf141_ENST00000603872.1_Missense_Mutation_p.P17L|TMEM239_ENST00000380593.4_Missense_Mutation_p.P17L|C20orf141_ENST00000380589.4_Missense_Mutation_p.P17L Q8WW34 Q8WW34_HUMAN transmembrane protein 239 0 GATCCGATCCCAGTTCCTCCA 0.612000 33 71 0 0 0.013726 0 0 DSCAM 1826 broad.mit.edu 37 21 41452104 41452104 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr21:41452104G>A ENST00000400454.1 - 25 4872 c.4395C>T c.(4393-4395)atC>atT p.I1465I NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1465 Fibronectin type-III 5. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TTGCTTCTATGATTTCACTTA 0.443000 48 32 0 0 0.014410 0 0 MYH13 8735 broad.mit.edu 37 17 10258308 10258308 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:10258308G>A ENST00000418404.3 - 9 968 c.805C>T c.(805-807)Ctg>Ttg p.L269L MYH13_ENST00000570743.1_Silent_p.L269L|MYH13_ENST00000252172.4_Silent_p.L269L Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 269 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TTTTCTAACAGATCTAAGGTA 0.368000 14 9 0 0 0.004990 0 0 LRP1B 53353 broad.mit.edu 37 2 141294268 141294268 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:141294268G>A ENST00000389484.3 - 46 8495 c.7524C>T c.(7522-7524)tcC>tcT p.S2508S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2508 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) CGTTGCAGGAGGAATTTTTAG 0.333000 TSP Lung(27;0.18) 8 16 0 0 0.003080 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110453508 110453508 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:110453508C>T ENST00000378402.5 + 34 4208 c.4104C>T c.(4102-4104)tcC>tcT p.S1368S NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1368 IPT/TIG 7. immune response cytosol|extracellular space|integral to membrane receptor activity p.S1370S(1) 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) TTCTAGGGTCCATCCCTTGCA 0.303000 HNSCC(38;0.096) 3 11 0 0 0.004672 0 0 PDZD2 23037 broad.mit.edu 37 5 32071494 32071494 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:32071494C>T ENST00000438447.1 + 16 2926 c.2538C>T c.(2536-2538)acC>acT p.T846T PDZD2_ENST00000282493.3_Silent_p.T846T O15018 PDZD2_HUMAN PDZ domain containing 2 846 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CAACAGGTACCCCCTTGAAGA 0.468000 23 74 0 0 0.003954 0 0 PKP1 5317 broad.mit.edu 37 1 201294248 201294248 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:201294248C>T ENST00000263946.3 + 12 2328 c.2077C>T c.(2077-2079)Cga>Tga p.R693* PKP1_ENST00000367324.3_Nonsense_Mutation_p.R672*|PKP1_ENST00000352845.3_Nonsense_Mutation_p.R693* NM_000299.3 NP_000290.2 Q13835 PKP1_HUMAN plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) 693 cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development desmosome|intermediate filament|nucleus intermediate filament binding|signal transducer activity|structural constituent of epidermis NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1) 22 CAACCTGTGCCGAAGCAGGTG 0.617000 32 60 0 0 0.012213 0 0 ZNF208 7757 broad.mit.edu 37 19 22157521 22157521 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:22157521T>A ENST00000397126.4 - 4 463 c.315A>T c.(313-315)aaA>aaT p.K105N ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) CATGTCCACATTTTTCATACC 0.333000 22 26 0 0 0.012319 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51960453 51960453 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:51960453G>A ENST00000321424.3 - 3 832 c.766C>T c.(766-768)Caa>Taa p.Q256* SIGLEC8_ENST00000340550.5_Nonsense_Mutation_p.Q163*|SIGLEC8_ENST00000430817.1_Intron NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 256 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) GCATCTCCTTGGAAGACAGTC 0.572000 18 87 0 0 0.008871 0 0 NLRP13 126204 broad.mit.edu 37 19 56416475 56416475 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:56416475C>T ENST00000588751.1 - 8 2475 c.2451G>A c.(2449-2451)ctG>ctA p.L817L NLRP13_ENST00000342929.3_Silent_p.L817L Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 817 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TGCATTTCTCCAGGCTGTGGA 0.537000 7 55 0 0 0.004482 0 0 HAND2 9464 broad.mit.edu 37 4 174450173 174450173 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:174450173G>A ENST00000359562.4 - 1 1207 c.268C>T c.(268-270)Ccg>Tcg p.P90S HAND2-AS1_ENST00000515310.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000512099.1_RNA NM_021973.2 NP_068808.1 P61296 HAND2_HUMAN heart and neural crest derivatives expressed 2 90 adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development nuclear chromatin|transcription factor complex activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 13 Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107) all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) cccaggcccgggggcccggcg 0.746000 12 6 0 0 0.013537 0 0 VPS13A 23230 broad.mit.edu 37 9 79853224 79853224 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:79853224C>T ENST00000360280.3 + 19 2082 c.1822C>T c.(1822-1824)Cca>Tca p.P608S VPS13A_ENST00000376636.3_Missense_Mutation_p.P608S|VPS13A_ENST00000357409.5_Missense_Mutation_p.P608S|VPS13A_ENST00000376634.4_Missense_Mutation_p.P608S NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 608 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CTTCAGACCTCCAAAAGAGGT 0.338000 13 33 0 0 0.004990 0 0 IRAK2 3656 broad.mit.edu 37 3 10219700 10219700 + Silent SNP G G A rs140169922 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:10219700G>A ENST00000256458.4 + 2 363 c.273G>A c.(271-273)ctG>ctA p.L91L NM_001570.3 NP_001561.3 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 91 Death. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity p.L91L(1) breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1) 25 AGATCATCCTGAACTGTGAGT 0.597000 16 31 0 0 0.004007 0 0 GAD1 2571 broad.mit.edu 37 2 171702044 171702044 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:171702044C>T ENST00000358196.3 + 8 1330 c.780C>T c.(778-780)atC>atT p.I260I NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 260 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TGTACAGCATCATGGCTGCTC 0.512000 21 66 0 0 0.003330 0 0 YAE1D1 57002 broad.mit.edu 37 7 39612009 39612009 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:39612009C>T ENST00000223273.2 + 3 428 c.385C>T c.(385-387)Cat>Tat p.H129Y YAE1D1_ENST00000448268.1_3'UTR|YAE1D1_ENST00000432096.2_Intron NM_020192.3 NP_064577.1 Q9NRH1 CG036_HUMAN Yae1 domain containing 1 129 TCCACCGTCCCATGTTGTAGA 0.378000 38 56 0 0 0.006999 0 0 PLG 5340 broad.mit.edu 37 6 161152165 161152165 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:161152165G>A ENST00000308192.9 + 11 1402 c.1339G>A c.(1339-1341)Gag>Aag p.E447K NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 447 Kringle 4. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CGTCAGGTGGGAGTACTGCAA 0.507000 26 43 0 0 0.003330 0 0 TNIK 23043 broad.mit.edu 37 3 170906620 170906620 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:170906620C>T ENST00000436636.2 - 7 854 c.508_splice c.e7-1 p.V170_splice TNIK_ENST00000488470.1_Splice_Site_p.V170_splice|TNIK_ENST00000475336.1_Splice_Site_p.V170_splice|TNIK_ENST00000470834.1_Splice_Site_p.V170_splice|TNIK_ENST00000369326.5_Silent_p.V170V|TNIK_ENST00000341852.6_Splice_Site_p.V170_splice|TNIK_ENST00000284483.8_Splice_Site_p.V170_splice|TNIK_ENST00000460047.1_Splice_Site_p.V170_splice|TNIK_ENST00000357327.5_Splice_Site_p.V170_splice|TNIK_ENST00000538048.1_Silent_p.V170V NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 170 Protein kinase. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) CTCCAAAGTCCACTATTTAAG 0.373000 10 19 0 0 0.010729 0 0 TNFRSF17 608 broad.mit.edu 37 16 12061492 12061492 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:12061492C>T ENST00000053243.1 + 3 561 c.343C>T c.(343-345)Ctt>Ttt p.L115F RP11-166B2.1_ENST00000532936.1_Intron|TNFRSF17_ENST00000396495.3_Missense_Mutation_p.L66F NM_001192.2 NP_001183.2 Q02223 TNR17_HUMAN tumor necrosis factor receptor superfamily, member 17 115 cell proliferation|multicellular organismal development endomembrane system|integral to membrane|plasma membrane large_intestine(3)|lung(3) 6 TGAAATTATTCTTCCGAGAGG 0.478000 T IL2 intestinal T-cell lymphoma 36 48 0 0 0.004289 0 0 SORCS3 22986 broad.mit.edu 37 10 106907396 106907396 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:106907396G>A ENST00000369701.3 + 9 1551 c.1324G>A c.(1324-1326)Gac>Aac p.D442N NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 442 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CATCAGTACAGACGAGAACCA 0.468000 9 24 0 0 0.008291 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20488839 20488839 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:20488839C>T ENST00000555186.1 + 0 322 NR_038836.1 TCCTGAAGTTCTTGTTTCTGT 0.423000 9 38 0 0 0.006214 0 0 MNDA 4332 broad.mit.edu 37 1 158813786 158813786 + Silent SNP G G A rs140332455 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:158813786G>A ENST00000368141.4 + 4 705 c.444G>A c.(442-444)agG>agA p.R148R NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 148 B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding p.R148R(1) NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) AAGCCAAAAGGAATAAGGTGT 0.443000 21 43 0 0 0.002780 0 0 C6orf10 10665 broad.mit.edu 37 6 32261670 32261670 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:32261670C>T ENST00000375015.4 - 26 977 c.777G>A c.(775-777)acG>acA p.T259T C6orf10_ENST00000527965.1_Silent_p.T244T|C6orf10_ENST00000447241.2_Silent_p.T260T|C6orf10_ENST00000442822.2_Silent_p.T251T|C6orf10_ENST00000533191.1_Silent_p.T258T|C6orf10_ENST00000375007.4_Silent_p.T258T Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 260 integral to membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 CTACAGAATTCGTAAATATGA 0.393000 36 81 0 0 0.003271 0 0 HAUS6 54801 broad.mit.edu 37 9 19058421 19058421 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:19058421C>T ENST00000380502.3 - 16 2811 c.2344G>A c.(2344-2346)Gaa>Aaa p.E782K HAUS6_ENST00000380496.1_Missense_Mutation_p.E646K NM_017645.3 NP_060115.3 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 782 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CCAACTTCTTCCGGGAGAGTT 0.348000 4 33 0 0 0.000602 0 0 BIRC5 332 broad.mit.edu 37 17 76219625 76219625 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:76219625C>T ENST00000301633.4 + 5 619 c.488C>T c.(487-489)gCc>gTc p.A163V AC087645.1_ENST00000600484.1_Missense_Mutation_p.A219T|BIRC5_ENST00000589892.1_3'UTR|BIRC5_ENST00000374948.2_Missense_Mutation_p.P101S|BIRC5_ENST00000350051.3_Missense_Mutation_p.A140V NM_001012271.1 NP_001012271.1 O15392 BIRC5_HUMAN baculoviral IAP repeat containing 5 140 anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding kidney(1)|urinary_tract(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153) CAGCTGGCTGCCATGGATTGA 0.547000 25 13 0 0 0.002780 0 0 RAB3IP 117177 broad.mit.edu 37 12 70150412 70150412 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:70150412G>A ENST00000550536.1 + 3 984 c.527G>A c.(526-528)cGa>cAa p.R176Q RAB3IP_ENST00000247833.7_Missense_Mutation_p.R160Q|RAB3IP_ENST00000483530.2_Missense_Mutation_p.R160Q|RAB3IP_ENST00000378815.6_Missense_Mutation_p.R160Q|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000362025.5_Missense_Mutation_p.R176Q NM_001278402.1|NM_175623.2 NP_001265331.1|NP_783322.1 Q96QF0 RAB3I_HUMAN RAB3A interacting protein 176 cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) GGCTATGAACGATTAAAAGAA 0.383000 39 29 0 0 0.010771 0 0 ARHGEF18 23370 broad.mit.edu 37 19 7518541 7518541 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:7518541C>T ENST00000359920.6 + 7 1733 c.1480C>T c.(1480-1482)Cag>Tag p.Q494* CTD-2207O23.3_ENST00000593531.1_Silent_p.F451F|ARHGEF18_ENST00000319670.9_Nonsense_Mutation_p.Q336* NM_001130955.1 NP_001124427.1 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 18 494 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 23 Renal(5;0.0902) AGACATGCTTCAGCGGCAGCT 0.587000 19 49 0 0 0.007413 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735698 55735698 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:55735698C>T ENST00000312345.2 - 1 292 c.242G>A c.(241-243)gGa>gAa p.G81E NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G81E(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) AGAAATATTTCCTTTCTGAGT 0.383000 15 36 0 0 0.004990 0 0 ZNF214 7761 broad.mit.edu 37 11 7022082 7022082 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:7022082C>T ENST00000278314.4 - 3 1147 c.832G>A c.(832-834)Gat>Aat p.D278N ZNF214_ENST00000536068.1_Missense_Mutation_p.D278N NM_013249.2 NP_037381.2 Q9UL59 ZN214_HUMAN zinc finger protein 214 278 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) TCAACTTCATCACATCCGTAC 0.433000 22 101 0 0 0.003330 0 0 MCF2 4168 broad.mit.edu 37 X 138684654 138684654 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:138684654C>T ENST00000520602.1 - 19 2212 c.1927G>A c.(1927-1929)Gat>Aat p.D643N MCF2_ENST00000414978.1_Missense_Mutation_p.D643N|MCF2_ENST00000370578.4_Missense_Mutation_p.D728N|MCF2_ENST00000519895.1_Missense_Mutation_p.D659N|MCF2_ENST00000370573.4_Missense_Mutation_p.D583N|MCF2_ENST00000370576.4_Missense_Mutation_p.D583N|MCF2_ENST00000338585.6_Missense_Mutation_p.D599N|MCF2_ENST00000536274.1_Missense_Mutation_p.D544N P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 583 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) TGAAAATCATCCTTCTGTGAT 0.333000 34 14 0 0 0.012213 0 0 PLCH1 23007 broad.mit.edu 37 3 155200514 155200514 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:155200514C>T ENST00000460012.1 - 23 3568 c.3211G>A c.(3211-3213)Gaa>Aaa p.E1071K PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Missense_Mutation_p.E1109K|PLCH1_ENST00000414191.1_Missense_Mutation_p.E1071K|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.E1071K Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1109 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TTACCCTTTTCCTTGATTTTC 0.468000 21 85 0 0 0.012319 0 0 DDAH1 23576 broad.mit.edu 37 1 85824519 85824519 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:85824519C>T ENST00000284031.8 - 2 409 c.315G>A c.(313-315)atG>atA p.M105I DDAH1_ENST00000542148.1_Missense_Mutation_p.M5I|DDAH1_ENST00000539042.1_Missense_Mutation_p.M105I|DDAH1_ENST00000535924.2_Missense_Mutation_p.M2I|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000483110.1_5'UTR|RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000426972.3_Missense_Mutation_p.M12I NM_012137.3 NP_036269.1 O94760 DDAH1_HUMAN dimethylarginine dimethylaminohydrolase 1 105 arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction dimethylargininase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1) 5 all cancers(265;0.0318)|Epithelial(280;0.0657) L-Citrulline(DB00155) ATGCTTCTTTCATCATGTCAA 0.308000 19 58 0 0 0.012319 0 0 SLC4A8 9498 broad.mit.edu 37 12 51868847 51868847 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:51868847G>A ENST00000453097.2 + 16 2246 c.2029G>A c.(2029-2031)Gga>Aga p.G677R SLC4A8_ENST00000358657.3_Missense_Mutation_p.G704R|SLC4A8_ENST00000514353.3_Missense_Mutation_p.G624R|SLC4A8_ENST00000394856.1_Missense_Mutation_p.G624R NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 677 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) GGAGATGCATGGAGAGTTCAT 0.478000 17 18 0 0 0.006122 0 0 TTBK1 84630 broad.mit.edu 37 6 43251423 43251423 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:43251423G>A ENST00000259750.4 + 14 3028 c.2945G>A c.(2944-2946)gGc>gAc p.G982D NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 982 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CTGGAGAACGGCCTCGCCCTG 0.687000 14 32 0 0 0.002450 0 0 HERC1 8925 broad.mit.edu 37 15 64047438 64047438 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:64047438A>T ENST00000443617.2 - 6 1707 c.1620T>A c.(1618-1620)ttT>ttA p.F540L NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 540 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CTAATCTTCCAAAGTCTCCTT 0.388000 9 16 0 0 0.004482 0 0 COPA 1314 broad.mit.edu 37 1 160263246 160263246 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb 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 7 10 0 0 0.001984 0 0 UPB1 51733 broad.mit.edu 37 22 24911324 24911324 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:24911324G>A ENST00000413389.2 + 6 2166 c.573G>A c.(571-573)acG>acA p.T191T UPB1_ENST00000326010.5_Silent_p.T259T Q9UBR1 BUP1_HUMAN ureidopropionase, beta 259 CN hydrolase. pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(2;0.0339) CCTCGGCCACGATAGGAGCAC 0.612000 17 39 0 0 0.006122 0 0 OR51L1 119682 broad.mit.edu 37 11 5020604 5020604 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:5020604C>T ENST00000321543.1 + 1 392 c.392C>T c.(391-393)cCa>cTa p.P131L NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ATCTGCCATCCACTGCACTAC 0.493000 42 108 0 0 0.011902 0 0 FAAH 2166 broad.mit.edu 37 1 46872007 46872007 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:46872007C>T ENST00000243167.8 + 7 1002 c.918C>T c.(916-918)gaC>gaT p.D306D FAAH_ENST00000493735.1_3'UTR NM_001441.2 NP_001432.2 O00519 FAAH1_HUMAN fatty acid amide hydrolase 306 fatty acid catabolic process cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 22 Acute lymphoblastic leukemia(166;0.155) Propofol(DB00818)|Thiopental(DB00599) TCCGCTTGGACCCCACTGTGC 0.662000 OREG0013458 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 34 0 0 0.007413 0 0 OR13C8 138802 broad.mit.edu 37 9 107331602 107331602 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:107331602G>A ENST00000335040.1 + 1 154 c.154G>A c.(154-156)Gat>Aat p.D52N NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 TATCATCTTTGATTCTCACCT 0.443000 75 103 0 0 0.014410 0 0 SLC17A1 6568 broad.mit.edu 37 6 25813407 25813407 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:25813407G>A ENST00000244527.4 - 7 766 c.651C>T c.(649-651)ttC>ttT p.F217F SLC17A1_ENST00000468082.1_Silent_p.F217F|SLC17A1_ENST00000476801.1_Silent_p.F217F|SLC17A1_ENST00000427328.1_Silent_p.F217F NM_005074.3 NP_005065.2 Q14916 NPT1_HUMAN solute carrier family 17 (organic anion transporter), member 1 217 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 AAAACAGAACGAACCAGAGAA 0.458000 17 44 0 0 0.004990 0 0 CSMD3 114788 broad.mit.edu 37 8 113518964 113518964 + Silent SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:113518964A>T ENST00000297405.5 - 29 5095 c.4851T>A c.(4849-4851)acT>acA p.T1617T CSMD3_ENST00000455883.2_Silent_p.T1513T|CSMD3_ENST00000352409.3_Silent_p.T1617T|CSMD3_ENST00000343508.3_Silent_p.T1577T NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1617 CUB 9. 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 TGACGGTGATAGTCCAGTCAC 0.393000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 8 36 0 0 0.004482 0 0 MFI2 4241 broad.mit.edu 37 3 196744020 196744020 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:196744020G>A ENST00000296350.5 - 7 967 c.854C>T c.(853-855)gCc>gTc p.A285V NM_005929.5 NP_005920.2 P08582 TRFM_HUMAN antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 285 Transferrin-like 1. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) ATCTGTGTCGGCCCGGACCAC 0.677000 9 23 0 0 0.010729 0 0 UBR2 23304 broad.mit.edu 37 6 42643911 42643911 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:42643911T>C ENST00000372899.1 + 39 4627 c.4369T>C c.(4369-4371)Tta>Cta p.L1457L UBR2_ENST00000372883.3_Intron|UBR2_ENST00000372901.1_Silent_p.L1457L NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 1457 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) CATACAGATCTTACTTACCTC 0.388000 20 156 0 0 0.002780 0 0 KRT19 3880 broad.mit.edu 37 17 39684413 39684413 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:39684413G>A ENST00000361566.3 - 1 147 c.87C>T c.(85-87)gtC>gtT p.V29V NM_002276.4 NP_002267.2 keratin 19 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 12 Breast(137;0.00038) CGCGAAAGGCGACCCCCGGCC 0.716000 8 2 0 0 0.004482 0 0 SZT2 23334 broad.mit.edu 37 1 43881724 43881724 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:43881724C>T ENST00000562955.1 + 6 724 c.724C>T c.(724-726)Cgt>Tgt p.R242C NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 242 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 CAGTATGATTCGTCAGGGCAT 0.567000 6 23 0 0 0.003080 0 0 CDC73 79577 broad.mit.edu 37 1 193205437 193205437 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:193205437T>C ENST00000367435.3 + 15 1552 c.1368T>C c.(1366-1368)ggT>ggC p.G456G CDC73_ENST00000477868.1_Intron NM_024529.4 NP_078805.3 Q6P1J9 CDC73_HUMAN cell division cycle 73 456 cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1) 87 AGTTCAAAGGTTGGCCATGGC 0.448000 54 99 0 0 0.014410 0 0 SMC4 10051 broad.mit.edu 37 3 160119868 160119868 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:160119868G>A ENST00000357388.3 + 3 756 c.305G>A c.(304-306)gGa>gAa p.G102E SMC4_ENST00000344722.5_Missense_Mutation_p.G102E|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.G77E|SMC4_ENST00000462787.1_Missense_Mutation_p.G102E|SMC4_ENST00000360111.2_Missense_Mutation_p.G102E NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 102 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) AAAATTCTGGGACCTTTCCAT 0.353000 6 30 0 0 0.001168 0 0 NRG3 10718 broad.mit.edu 37 10 84711289 84711289 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:84711289C>T ENST00000372142.2 + 6 730 c.456C>T c.(454-456)atC>atT p.I152I NRG3_ENST00000404547.1_Silent_p.I373I|NRG3_ENST00000404576.2_Silent_p.I177I|NRG3_ENST00000372141.2_Silent_p.I373I|NRG3_ENST00000556918.1_Silent_p.I203I|NRG3_ENST00000537893.1_Silent_p.I23I|NRG3_ENST00000545131.1_Silent_p.I23I NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 373 Ser/Thr-rich. regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) GAATTGTCATCGTGGGCATGT 0.353000 15 42 0 0 0.004990 0 0 ADAM23 8745 broad.mit.edu 37 2 207460839 207460839 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:207460839G>A ENST00000264377.3 + 24 2640 c.2312G>A c.(2311-2313)cGg>cAg p.R771Q ADAM23_ENST00000374415.3_Missense_Mutation_p.R771Q|ADAM23_ENST00000374416.1_Missense_Mutation_p.R771Q NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 771 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) TGCAGTATCCGGGATCCAGTT 0.448000 12 30 0 0 0.001855 0 0 UNC13C 440279 broad.mit.edu 37 15 54305702 54305702 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:54305702G>A ENST00000545554.1 + 1 602 c.602G>A c.(601-603)aGc>aAc p.S201N UNC13C_ENST00000260323.11_Missense_Mutation_p.S201N|UNC13C_ENST00000537900.1_Missense_Mutation_p.S201N Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 201 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TCAGAGTTAAGCACCATGAAA 0.458000 22 73 0 0 0.012319 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144886274 144886274 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:144886274G>A ENST00000369359.4 - 26 3409 c.3371C>T c.(3370-3372)tCt>tTt p.S1124F PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1124F|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S987F|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S987F|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1053F Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 987 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding p.S987C(2) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) AGGGGAAAAAGATGGGTTCTG 0.478000 T PDGFRB MPD 64 285 0 0 0.014410 0 0 TLL2 7093 broad.mit.edu 37 10 98182396 98182396 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:98182396C>T ENST00000357947.3 - 6 952 c.727G>A c.(727-729)Gag>Aag p.E243K TLL2_ENST00000469598.1_5'UTR NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 243 Metalloprotease (By similarity). cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) TGGCCCAGCTCGTGAGCCACA 0.552000 4 28 0 0 0.009096 0 0 FBN3 84467 broad.mit.edu 37 19 8152962 8152962 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:8152962G>A ENST00000600128.1 - 52 6892 c.6478C>T c.(6478-6480)Ctc>Ttc p.L2160F FBN3_ENST00000601739.1_Missense_Mutation_p.L2160F|FBN3_ENST00000270509.2_Missense_Mutation_p.L2160F Q75N90 FBN3_HUMAN fibrillin 3 2160 EGF-like 34; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GTCATCATGAGGCCAGGCTCA 0.627000 24 49 0 0 0.002780 0 0 CCDC173 129881 broad.mit.edu 37 2 170506914 170506914 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:170506914C>T ENST00000447353.1 - 7 1182 c.1077G>A c.(1075-1077)tgG>tgA p.W359* NM_001085447.1 NP_001078916.1 coiled-coil domain containing 173 CTCTTTTTTCCCATTCAGCCT 0.313000 5 20 0 0 0.000602 0 0 ANKHD1 54882 broad.mit.edu 37 5 139908732 139908732 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:139908732C>T ENST00000297183.6 + 29 6325 c.6201C>T c.(6199-6201)tcC>tcT p.S2067S ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.S2067S|ANKHD1_ENST00000544120.1_Silent_p.S450S|ANKHD1_ENST00000360839.2_Silent_p.S2067S NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCACCCATCCAGTAGTCCCA 0.507000 5 73 0 0 0.000602 0 0 PDIA3 2923 broad.mit.edu 37 15 44062468 44062468 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:44062468C>T ENST00000300289.5 + 11 1435 c.1287C>T c.(1285-1287)atC>atT p.I429I PDIA3_ENST00000538521.1_Silent_p.I409I NM_005313.4 NP_005304.3 P30101 PDIA3_HUMAN protein disulfide isomerase family A, member 3 429 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction endoplasmic reticulum lumen|melanosome cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1) 17 all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.48e-07) ACCCAAATATCGTCATAGCCA 0.383000 7 23 0 0 0.003080 0 0 RASGRP2 10235 broad.mit.edu 37 11 64507261 64507261 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:64507261G>A ENST00000377494.1 - 6 1465 c.543C>T c.(541-543)ttC>ttT p.F181F RASGRP2_ENST00000354024.3_Silent_p.F181F|RASGRP2_ENST00000377497.3_Silent_p.F181F|RASGRP2_ENST00000394432.3_Silent_p.F181F Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 (calcium and DAG-regulated) 181 Ras-GEF. platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CATGAGTCACGAAACTGTGAT 0.577000 19 36 0 0 0.010504 0 0 PCF11 51585 broad.mit.edu 37 11 82877056 82877056 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:82877056C>T ENST00000298281.4 + 5 1569 c.1117C>T c.(1117-1119)Cct>Tct p.P373S NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 373 Lys-rich. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 ATCACCCTCACCTTTGAAAAA 0.313000 4 15 0 0 0.009096 0 0 DCAF15 90379 broad.mit.edu 37 19 14071304 14071304 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:14071304G>A ENST00000254337.6 + 12 1680 c.1659G>A c.(1657-1659)aaG>aaA p.K553K NM_138353.2 NP_612362.2 Q66K64 DCA15_HUMAN DDB1 and CUL4 associated factor 15 553 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1) 11 CCTACCGCAAGAGCTGCGTGG 0.677000 OREG0025301 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 13 0 0 0.003080 0 0 ZNF33B 7582 broad.mit.edu 37 10 43088408 43088408 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:43088408G>A ENST00000359467.3 - 5 2104 c.1990C>T c.(1990-1992)Cct>Tct p.P664S ZNF33B_ENST00000486187.1_RNA NM_006955.1 NP_008886.1 Q06732 ZN33B_HUMAN zinc finger protein 33B 664 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 CATTTATAAGGCTTTTCTTGT 0.393000 8 48 0 0 0.008291 0 0 HLA-DRB1 3123 broad.mit.edu 37 6 32549490 32549490 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:32549490C>T ENST00000360004.5 - 3 601 c.496G>A c.(496-498)Gaa>Aaa p.E166K NM_002124.3 NP_002115.2 major histocompatibility complex, class II, DR beta 1 large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1) 10 GCCTTCTCTTCCTGGCCGTTC 0.557000 Multiple Myeloma(14;0.17) 9 23 0 0 0.003330 0 0 NUPL1 9818 broad.mit.edu 37 13 25894702 25894702 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:25894702C>T ENST00000463407.1 + 8 888 c.745C>T c.(745-747)Cct>Tct p.P249S NUPL1_ENST00000381736.3_Missense_Mutation_p.P249S|NUPL1_ENST00000466694.1_Intron|NUPL1_ENST00000381718.3_Missense_Mutation_p.P237S Q9BVL2 NUPL1_HUMAN nucleoporin like 1 249 14 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1) 16 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244) AAATCTACCTCCTGTCATCTG 0.328000 7 51 0 0 0.008291 0 0 CHST9 83539 broad.mit.edu 37 18 24496504 24496504 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:24496504C>T ENST00000284224.8 - 6 1328 c.1051G>A c.(1051-1053)Gaa>Aaa p.E351K CHST9_ENST00000581714.1_Missense_Mutation_p.E351K|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000579964.1_RNA NM_031422.5 NP_113610.2 Q7L1S5 CHST9_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 351 carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process extracellular region|Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3) 28 all_lung(6;0.0145)|Ovarian(20;0.124) CTGACCTTTTCCCAGTGAATG 0.393000 20 63 0 0 0.010504 0 0 CHRNA3 1136 broad.mit.edu 37 15 78894485 78894485 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:78894485G>A ENST00000326828.5 - 5 883 c.499C>T c.(499-501)Ccg>Tcg p.P167S CHRNA3_ENST00000348639.3_Missense_Mutation_p.P167S NM_000743.4 NP_000734.2 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 (neuronal) 167 activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TAATCAAACGGGAAGTAGGTC 0.488000 18 76 0 0 0.002780 0 0 IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 159604007 159604007 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:159604007G>A ENST00000337808.6 + 4 1467 c.890G>A c.(889-891)gGg>gAg p.G297E IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.G65E|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.G284E|SCHIP1_ENST00000445224.2_Missense_Mutation_p.G54E|IQCJ-SCHIP1_ENST00000460298.1_Missense_Mutation_p.G257E|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.G346E|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.G373E|SCHIP1_ENST00000482804.1_Missense_Mutation_p.G70E NM_001197107.1|NM_014575.3 NP_001184036.1|NP_055390.1 Q9P0W5 SCHI1_HUMAN 297 cytoplasm identical protein binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 CTGCAGAGTGGGATGAACTTG 0.443000 33 26 0 0 0.013726 0 0 SERTAD4 56256 broad.mit.edu 37 1 210415616 210415616 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:210415616C>T ENST00000367012.3 + 4 1235 c.1005C>T c.(1003-1005)tcC>tcT p.S335S NM_019605.3 NP_062551.1 Q9NUC0 SRTD4_HUMAN SERTA domain containing 4 335 protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127) GGAAAAAGTCCTTACGGAAAA 0.388000 18 35 0 0 0.006122 0 0 AXDND1 126859 broad.mit.edu 37 1 179497543 179497543 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:179497543G>A ENST00000367618.3 + 23 3079 c.2692G>A c.(2692-2694)Gaa>Aaa p.E898K NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 898 Glu-rich. NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 ACCTCTATTTGAAACAGATGT 0.358000 8 34 0 0 0.004482 0 0 RYR2 6262 broad.mit.edu 37 1 237791306 237791306 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:237791306C>T ENST00000366574.2 + 41 6683 c.6366C>T c.(6364-6366)tcC>tcT p.S2122S RYR2_ENST00000542537.1_Silent_p.S2106S|RYR2_ENST00000360064.6_Silent_p.S2120S NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2122 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGCTGGCATCCCTTGGTCAGA 0.498000 22 28 0 0 0.003330 0 0 TLL1 7092 broad.mit.edu 37 4 166935613 166935613 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:166935613C>T ENST00000061240.2 + 8 1590 c.943C>T c.(943-945)Ccc>Tcc p.P315S TLL1_ENST00000507499.1_Missense_Mutation_p.P315S|TLL1_ENST00000513213.1_Missense_Mutation_p.P315S NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 315 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TACCATTCTCCCCTCCCGTGA 0.438000 59 79 0 0 0.014410 0 0 CTAGE1 64693 broad.mit.edu 37 18 19997229 19997229 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:19997229C>T ENST00000391403.2 - 1 649 c.546G>A c.(544-546)tgG>tgA p.W182* NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 182 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) AATTTTCTTTCCAAGCATCTT 0.368000 32 56 0 0 0.003271 0 0 ANO5 203859 broad.mit.edu 37 11 22279281 22279281 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:22279281G>A ENST00000324559.8 + 14 1705 c.1388G>A c.(1387-1389)gGa>gAa p.G463E NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 463 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TTTCTTTCAGGAGCCACAGTG 0.368000 12 22 0 0 0.001855 0 0 PLB1 151056 broad.mit.edu 37 2 28849349 28849349 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:28849349G>A ENST00000422425.2 + 50 3645 c.3601G>A c.(3601-3603)Gac>Aac p.D1201N PLB1_ENST00000327757.5_Missense_Mutation_p.D1212N|PLB1_ENST00000541605.1_Missense_Mutation_p.D177N NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 1212 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) TGGGGTCAACGACTTGTGTCA 0.547000 6 32 0 0 0.001984 0 0 GZMA 3001 broad.mit.edu 37 5 54404140 54404140 + Missense_Mutation SNP G G A rs142064253 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:54404140G>A ENST00000274306.6 + 4 580 c.545G>A c.(544-546)cGa>cAa p.R182Q NM_006144.3 NP_006135.1 P12544 GRAA_HUMAN granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) 182 Peptidase S1. cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis extracellular region|immunological synapse|nucleus protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 25 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) TGCAATGATCGAAATCACTAT 0.428000 5 22 0 0 0.000602 0 0 DCDC1 341019 broad.mit.edu 37 11 31312362 31312362 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:31312362C>T ENST00000597505.1 - 5 791 c.792G>A c.(790-792)atG>atA p.M264I DCDC1_ENST00000452803.1_Missense_Mutation_p.M264I P59894 DCDC1_HUMAN doublecortin domain containing 1 264 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) TCAACCCATTCATTGTCCAAG 0.338000 15 29 0 0 0.007413 0 0 ATP13A4 84239 broad.mit.edu 37 3 193201734 193201734 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:193201734C>T ENST00000342695.4 - 8 1121 c.799G>A c.(799-801)Ggg>Agg p.G267R ATP13A4_ENST00000295548.3_Missense_Mutation_p.G267R|ATP13A4_ENST00000392443.3_Missense_Mutation_p.G267R NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 267 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CCTTTTCTCCCACATACAGAG 0.333000 31 70 0 0 0.003271 0 0 SLC15A2 6565 broad.mit.edu 37 3 121643813 121643813 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:121643813C>T ENST00000489711.1 + 13 1445 c.1057C>T c.(1057-1059)Ctt>Ttt p.L353F SLC15A2_ENST00000295605.2_Missense_Mutation_p.L322F NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 353 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) CCTTCTGGTTCTTATCTTCAT 0.383000 25 98 0 0 0.004656 0 0 CELSR3 1951 broad.mit.edu 37 3 48685752 48685752 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:48685752C>T ENST00000544264.1 - 20 7215 c.6935G>A c.(6934-6936)aGg>aAg p.R2312K CELSR3_ENST00000164024.4_Missense_Mutation_p.R2307K Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 2307 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TTCCATATTCCTTGCGAGTGT 0.657000 6 27 0 0 0.006214 0 0 PTPRF 5792 broad.mit.edu 37 1 44083235 44083235 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:44083235C>T ENST00000359947.4 + 24 4531 c.4191C>T c.(4189-4191)atC>atT p.I1397I PTPRF_ENST00000372414.3_Silent_p.I1397I|PTPRF_ENST00000372413.3_Silent_p.I1388I|PTPRF_ENST00000438120.1_Silent_p.I1388I|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Silent_p.I756I NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1397 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TTACCTCTATCGATGGTGAGC 0.552000 50 109 0 0 0.014410 0 0 ZNF334 55713 broad.mit.edu 37 20 45131444 45131444 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:45131444C>T ENST00000457685.2 - 6 1743 c.420G>A c.(418-420)atG>atA p.M140I ZNF334_ENST00000347606.4_Missense_Mutation_p.M178I|ZNF334_ENST00000593880.1_Missense_Mutation_p.M201I Q9HCZ1 ZN334_HUMAN zinc finger protein 334 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) TGTATTTTTTCATTCCCAAAT 0.343000 24 40 0 0 0.002780 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558180 140558180 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140558180G>A ENST00000239444.2 + 1 810 c.565G>A c.(565-567)Ggc>Agc p.G189S NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 189 Cadherin 2. 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) ACGCAGTGATGGCAGGAAATA 0.502000 6 21 0 0 0.001984 0 0 DTNA 1837 broad.mit.edu 37 18 32455268 32455268 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:32455268C>T ENST00000283365.9 + 17 1908 c.1557C>T c.(1555-1557)ccC>ccT p.P519P DTNA_ENST00000444659.1_Silent_p.P576P|DTNA_ENST00000399097.3_Silent_p.P224P|DTNA_ENST00000269192.7_Silent_p.P285P|DTNA_ENST00000269190.7_Silent_p.P577P|DTNA_ENST00000595022.1_Silent_p.P516P|DTNA_ENST00000590831.2_Silent_p.P2P|DTNA_ENST00000399113.3_Silent_p.P576P|DTNA_ENST00000556414.3_Silent_p.P228P|DTNA_ENST00000399121.5_Silent_p.P523P|DTNA_ENST00000598334.1_Silent_p.P516P|DTNA_ENST00000598142.1_Silent_p.P519P|DTNA_ENST00000591182.1_Silent_p.P224P|DTNA_ENST00000601125.1_Silent_p.P198P NM_032975.3 NP_116757.2 Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha 576 neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 TTCCCATGCCCATCCGGTCAG 0.592000 21 46 0 0 0.010504 0 0 AE000661.37 0 broad.mit.edu 37 14 22933266 22933266 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:22933266G>A ENST00000514473.2 - 0 225 TRDC_ENST00000390477.2_RNA|AE000661.37_ENST00000556777.1_RNA TGTTTGCAAAGACTGTTGCCG 0.448000 16 37 0 0 0.007413 0 0 VWA8 23078 broad.mit.edu 37 13 42259190 42259190 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:42259190G>A ENST00000379310.3 - 35 4388 c.4320C>T c.(4318-4320)taC>taT p.Y1440Y NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 TACCTTTTGGGTAGATATCTT 0.363000 17 18 0 0 0.008871 0 0 ZNF480 147657 broad.mit.edu 37 19 52803732 52803732 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:52803732C>T ENST00000595962.1 + 2 133 c.67C>T c.(67-69)Cct>Tct p.P23S ZNF480_ENST00000335090.6_5'UTR|ZNF480_ENST00000334564.7_Missense_Mutation_p.P23S|ZNF480_ENST00000490272.1_Missense_Mutation_p.P23S NM_144684.2 NP_653285.2 Q8WV37 ZN480_HUMAN zinc finger protein 480 23 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) GATGGCTCTTCCTCAGGTGAG 0.453000 28 60 0 0 0.007291 0 0 ITM2C 81618 broad.mit.edu 37 2 231742769 231742769 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:231742769C>T ENST00000326427.6 + 6 885 c.759C>T c.(757-759)ttC>ttT p.F253F ITM2C_ENST00000335005.6_Silent_p.F206F|ITM2C_ENST00000409704.2_Silent_p.F191F|ITM2C_ENST00000326407.6_Silent_p.F216F NM_030926.4 NP_112188.1 Q9NQX7 ITM2C_HUMAN integral membrane protein 2C 253 negative regulation of neuron projection development|neuron differentiation Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm beta-amyloid binding cervix(2)|lung(1)|ovary(1)|skin(1) 5 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) TCCGCCACTTCGAGAACACCT 0.582000 14 35 0 0 0.003163 0 0 EPB41L1 2036 broad.mit.edu 37 20 34810307 34810307 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:34810307G>A ENST00000338074.2 + 21 2789 c.2628G>A c.(2626-2628)aaG>aaA p.K876K EPB41L1_ENST00000202028.5_Silent_p.K774K|EPB41L1_ENST00000373946.3_Silent_p.K696K|EPB41L1_ENST00000373950.2_Silent_p.K767K|EPB41L1_ENST00000441639.1_Silent_p.K774K|EPB41L1_ENST00000373941.1_Silent_p.K875K NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 876 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) AGAGGGACAAGAAGCCACAGG 0.542000 18 26 0 0 0.006122 0 0 TTN 7273 broad.mit.edu 37 2 179439647 179439647 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179439647C>T ENST00000589042.1 - 326 71436 c.71212G>A c.(71212-71214)Gaa>Aaa p.E23738K TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E14673K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E14798K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E21170K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E14865K|TTN_ENST00000591111.1_Missense_Mutation_p.E22097K|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22097 Fibronectin type-III 72. 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) GATGAAACTTCATCAAATTTG 0.448000 8 15 0 0 0.004482 0 0 TCEA2 6919 broad.mit.edu 37 20 62701940 62701940 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:62701940C>T ENST00000361317.2 + 9 1132 c.690C>T c.(688-690)gaC>gaT p.D230D TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000343484.5_Silent_p.D257D NM_198723.1 NP_942016.1 Q15560 TCEA2_HUMAN transcription elongation factor A (SII), 2 257 TFIIS central. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent transcription elongation factor complex DNA binding|protein binding|translation elongation factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7) 12 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) CGCAGACAGACCTGTTCACCT 0.627000 6 10 0 0 0.001168 0 0 MMP27 64066 broad.mit.edu 37 11 102575416 102575416 + Missense_Mutation SNP C C T rs139015378 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:102575416C>T ENST00000260229.4 - 2 284 c.193G>A c.(193-195)Gaa>Aaa p.E65K NM_022122.2 NP_071405.2 Q9H306 MMP27_HUMAN matrix metallopeptidase 27 65 collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.E65K(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) GCTTGCATTTCCCGAATTTTG 0.433000 11 28 0 0 0.008291 0 0 CCNA1 8900 broad.mit.edu 37 13 37016772 37016772 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:37016772G>A ENST00000418263.1 + 9 1715 c.1365G>A c.(1363-1365)atG>atA p.M455I CCNA1_ENST00000255465.4_Missense_Mutation_p.M456I|CCNA1_ENST00000440264.1_Missense_Mutation_p.M412I|CCNA1_ENST00000449823.1_Missense_Mutation_p.M412I NM_001111045.1|NM_003914.3 NP_001104515.1|NP_003905.1 P78396 CCNA1_HUMAN cyclin A1 456 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) TGTCCCTCATGGAGCCACCTG 0.443000 9 38 0 0 0.006214 0 0 MICAL3 57553 broad.mit.edu 37 22 18300928 18300928 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:18300928T>C ENST00000441493.2 - 26 4851 c.4499A>G c.(4498-4500)gAg>gGg p.E1500G NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1500 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) CTGAGCAGGCTCCCGGGGGGG 0.667000 4 12 0 0 0.009096 0 0 CEP250 11190 broad.mit.edu 37 20 34078584 34078584 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:34078584C>T ENST00000397527.1 + 21 3428 c.2708C>T c.(2707-2709)gCc>gTc p.A903V RP3-477O4.14_ENST00000453914.1_RNA|CEP250_ENST00000342580.4_Intron|RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 903 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GCCATCCAGGCCCAGAGGGAA 0.552000 44 64 0 0 0.014410 0 0 CNTN3 5067 broad.mit.edu 37 3 74350893 74350893 + Missense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:74350893G>T ENST00000263665.6 - 14 1877 c.1850C>A c.(1849-1851)tCt>tAt p.S617Y NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 617 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TTCTTTCCAAGAGAGTTGGGC 0.448000 20 47 9.95505e-16 1.09148e-15 0.014323 1 0 PCF11 51585 broad.mit.edu 37 11 82877057 82877057 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:82877057C>T ENST00000298281.4 + 5 1570 c.1118C>T c.(1117-1119)cCt>cTt p.P373L NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 373 Lys-rich. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 TCACCCTCACCTTTGAAAAAC 0.313000 4 14 0 0 0.009096 0 0 CYP4F12 66002 broad.mit.edu 37 19 15793264 15793264 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:15793264C>T ENST00000550308.1 + 6 971 c.591C>T c.(589-591)ctC>ctT p.L197L CYP4F12_ENST00000324632.9_Silent_p.L197L 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) ACATCAGCCTCATGACCTTGG 0.532000 26 55 0 0 0.012213 0 0 COL6A3 1293 broad.mit.edu 37 2 238303252 238303252 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:238303252C>T ENST00000295550.4 - 3 1139 c.687G>A c.(685-687)acG>acA p.T229T COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000347401.3_Silent_p.T229T|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000346358.4_Silent_p.T229T NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 229 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TAAGGGTTTCCGTGTCCCCAG 0.488000 13 24 0 0 0.003163 0 0 GARS 2617 broad.mit.edu 37 7 30642717 30642717 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:30642717C>T ENST00000389266.3 + 5 878 c.637C>T c.(637-639)Cgt>Tgt p.R213C NM_002047.2 NP_002038.2 P41250 SYG_HUMAN glycyl-tRNA synthetase 213 cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation cytosol|mitochondrial matrix|soluble fraction ATP binding|glycine-tRNA ligase activity|protein dimerization activity breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 24 Glycine(DB00145) AGAATGTTTTCGTGCTGACCA 0.353000 25 42 0 0 0.004656 0 0 CASS4 57091 broad.mit.edu 37 20 55012393 55012393 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:55012393C>T ENST00000371336.3 + 2 411 c.210C>T c.(208-210)atC>atT p.I70I CASS4_ENST00000434344.1_Silent_p.I70I|CASS4_ENST00000360314.3_Silent_p.I70I NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 70 SH3. cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 GCCTCCAAATCCTCACGGAGG 0.612000 6 38 0 0 0.001984 0 0 DNAH2 146754 broad.mit.edu 37 17 7695363 7695363 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:7695363G>A ENST00000572933.1 + 45 8489 c.7029G>A c.(7027-7029)gaG>gaA p.E2343E DNAH2_ENST00000389173.2_Silent_p.E2343E Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2343 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) ACCTCCGAGAGATCGAGGGCT 0.557000 15 20 0 0 0.004007 0 0 ZAN 7455 broad.mit.edu 37 7 100371412 100371412 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:100371412C>T ENST00000542585.1 + 0 5851 ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_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) ACAACAACATCACCTGCTTCC 0.622000 8 10 0 0 0.006214 0 0 C3orf22 152065 broad.mit.edu 37 3 126270914 126270914 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:126270914G>A ENST00000318225.2 - 3 519 c.141C>T c.(139-141)gtC>gtT p.V47V NM_152533.1 NP_689746.1 Q8N5N4 CC022_HUMAN chromosome 3 open reading frame 22 47 large_intestine(1)|lung(3)|ovary(2)|prostate(1) 7 GBM - Glioblastoma multiforme(114;0.147) AGTCGTTTGTGACCTCCCAGG 0.617000 16 44 0 0 0.004007 0 0 PANK2 80025 broad.mit.edu 37 20 3869920 3869920 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:3869920C>T ENST00000316562.4 + 1 179 c.173C>T c.(172-174)cCt>cTt p.P58L PANK2_ENST00000497424.1_Intron NM_153638.2 NP_705902.2 Q9BZ23 PANK2_HUMAN pantothenate kinase 2 58 cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GTCAATCCTCCTCGAGTTAGG 0.682000 6 6 0 0 0.001168 0 0 FSIP2 401024 broad.mit.edu 37 2 186672248 186672248 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:186672248C>T ENST00000343098.5 + 17 18482 c.18482C>T c.(18481-18483)aCc>aTc p.T6161I FSIP2_ENST00000424728.1_Missense_Mutation_p.T6072I NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 TATGTAGAAACCTTACAATCT 0.318000 26 122 0 0 0.003954 0 0 OR8D2 283160 broad.mit.edu 37 11 124189535 124189535 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:124189535G>A ENST00000357438.2 - 1 649 c.559C>T c.(559-561)Ctg>Ttg p.L187L NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 187 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) GAGCAAGACAGAGTCAATAAG 0.438000 16 19 0 0 0.004990 0 0 CUL9 23113 broad.mit.edu 37 6 43173766 43173766 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:43173766C>T ENST00000252050.4 + 25 4899 c.4815C>T c.(4813-4815)ctC>ctT p.L1605L CUL9_ENST00000372647.2_Silent_p.L1605L|CUL9_ENST00000354495.3_Silent_p.L1495L NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 1605 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 CGGACCGTCTCCTGAGCTTTG 0.627000 18 43 0 0 0.003954 0 0 S100A14 57402 broad.mit.edu 37 1 153587382 153587382 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:153587382C>T ENST00000368702.1 - 5 566 c.294G>A c.(292-294)gaG>gaA p.E98E S100A14_ENST00000368700.3_5'UTR|S100A14_ENST00000476873.1_Silent_p.E98E|S100A14_ENST00000368701.1_Silent_p.E98E|S100A14_ENST00000344616.2_Silent_p.E98E Q9HCY8 S10AE_HUMAN S100 calcium binding protein A14 98 calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm calcium ion binding|chemokine receptor binding kidney(2)|large_intestine(1)|lung(1) 4 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GGACAGGCCTCTCCAGCTTCA 0.542000 12 39 0 0 0.001855 0 0 HEPHL1 341208 broad.mit.edu 37 11 93800694 93800694 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:93800694G>A ENST00000315765.9 + 5 849 c.841G>A c.(841-843)Gag>Aag p.E281K NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 281 Plastocyanin-like 2. 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) AAACTTCCCGGAGCCTGATAT 0.468000 18 99 0 0 0.006122 0 0 VPS13B 157680 broad.mit.edu 37 8 100844860 100844860 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:100844860G>A ENST00000358544.2 + 52 9780 c.9669G>A c.(9667-9669)cgG>cgA p.R3223R VPS13B_ENST00000357162.2_Silent_p.R3198R|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3223 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) GGAATTTCCGGGAAAATGGAT 0.463000 9 48 0 0 0.006214 0 0 DNAH10 196385 broad.mit.edu 37 12 124387620 124387620 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:124387620G>A ENST00000409039.3 + 56 9446 c.9421G>A c.(9421-9423)Gaa>Aaa p.E3141K NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3141 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CGCCAAGCTGGAACTGCAGAA 0.567000 10 6 0 0 0.010729 0 0 LRCH4 4034 broad.mit.edu 37 7 100172796 100172796 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:100172796G>A ENST00000310300.6 - 18 2038 c.1986C>T c.(1984-1986)ttC>ttT p.F662F LRCH4_ENST00000497245.1_Silent_p.F210F NM_002319.3 NP_002310.2 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 4 662 nervous system development PML body protein binding NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 23 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGAAGACGACGAAGCCGCCCA 0.682000 5 23 0 0 0.001168 0 0 MYO5B 4645 broad.mit.edu 37 18 47421510 47421510 + Missense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:47421510G>T ENST00000285039.7 - 22 3145 c.2846C>A c.(2845-2847)tCc>tAc p.S949Y MYO5B_ENST00000324581.6_Missense_Mutation_p.S90Y NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 949 protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) GGTGGTCACGGACAACTGCTC 0.512000 16 42 1.02788e-11 1.12534e-11 0.004990 1 0 SCN7A 6332 broad.mit.edu 37 2 167298046 167298046 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:167298046C>T ENST00000409855.1 - 14 2143 c.2017G>A c.(2017-2019)Gac>Aac p.D673N NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 673 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 TGGAAAAAGTCATGCATGTGC 0.468000 10 37 0 0 0.010729 0 0 PARP8 79668 broad.mit.edu 37 5 50084408 50084408 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:50084408G>A ENST00000281631.5 + 10 880 c.722G>A c.(721-723)gGa>gAa p.G241E PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.G220E|PARP8_ENST00000505697.2_Missense_Mutation_p.G241E|PARP8_ENST00000514067.2_Missense_Mutation_p.G241E|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Missense_Mutation_p.G241E NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 241 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) TTTGGATTGGGACATCAGCTG 0.343000 5 16 0 0 0.001168 0 0 C18orf54 162681 broad.mit.edu 37 18 51904574 51904574 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:51904574C>T ENST00000300091.5 + 8 1409 c.1077C>T c.(1075-1077)gaC>gaT p.D359D C18orf54_ENST00000382911.4_Silent_p.D520D|C18orf54_ENST00000578138.1_Silent_p.D138D|C18orf54_ENST00000582188.1_3'UTR NM_173529.4 NP_775800.3 Q8IYD9 CR054_HUMAN chromosome 18 open reading frame 54 359 extracellular region breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 15 Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186) GCCTGAGAGACCTGGTTGATG 0.378000 6 13 0 0 0.004482 0 0 ZCCHC12 170261 broad.mit.edu 37 X 117960038 117960038 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:117960038G>A ENST00000310164.2 + 4 1338 c.831G>A c.(829-831)gtG>gtA p.V277V NM_173798.2 NP_776159.1 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 277 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 22 ATGAGGATGTGATCCTGGTGG 0.572000 22 18 0 0 0.014323 0 0 TECTA 7007 broad.mit.edu 37 11 120979979 120979979 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:120979979C>T ENST00000392793.1 + 4 529 c.258C>T c.(256-258)tcC>tcT p.S86S TECTA_ENST00000264037.2_Silent_p.S86S O75443 TECTA_HUMAN tectorin alpha 86 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CGCCAGAATCCTTTCCCCTGA 0.488000 8 21 0 0 0.004482 0 0 NEU2 4759 broad.mit.edu 37 2 233898940 233898940 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:233898940C>T ENST00000233840.3 + 2 316 c.316C>T c.(316-318)Cct>Tct p.P106S NM_005383.2 NP_005374.2 Q9Y3R4 NEUR2_HUMAN sialidase 2 (cytosolic sialidase) 106 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) CATTGCCATCCCTGGGCAAGT 0.647000 24 43 0 0 0.003330 0 0 NLRP7 199713 broad.mit.edu 37 19 55449535 55449535 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:55449535G>A ENST00000588756.1 - 7 2492 c.2006C>T c.(2005-2007)tCt>tTt p.S669F NLRP7_ENST00000448121.2_Intron|NLRP7_ENST00000592784.1_Missense_Mutation_p.S669F|NLRP7_ENST00000590030.1_Missense_Mutation_p.S669F|NLRP7_ENST00000340844.2_Missense_Mutation_p.S669F|NLRP7_ENST00000328092.5_Intron|NLRP7_ENST00000446217.1_Missense_Mutation_p.S697F Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 669 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GCTGAAGAGAGAGCAGAAATC 0.502000 45 98 0 0 0.014410 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136315040 136315040 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:136315040C>T ENST00000371929.3 + 23 3442 c.2998C>T c.(2998-3000)Cgc>Tgc p.R1000C ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R969C|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R1000C NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 1000 TSP type-1 6. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GGGGCTGCCTCGCCCGGAACC 0.677000 8 19 0 0 0.003080 0 0 OR10A5 144124 broad.mit.edu 37 11 6866952 6866952 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:6866952C>T ENST00000299454.4 + 1 70 c.39C>T c.(37-39)atC>atT p.I13I OR10A5_ENST00000379831.2_Silent_p.I17I Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GTGAATTTATCCTCATGAGCT 0.408000 47 123 0 0 0.014410 0 0 GHSR 2693 broad.mit.edu 37 3 172166133 172166133 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:172166133G>A ENST00000241256.2 - 1 113 c.71C>T c.(70-72)tCc>tTc p.S24F GHSR_ENST00000427970.1_Missense_Mutation_p.S24F NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 24 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) GTTGCCGGGGGAAGCATCCCA 0.687000 5 19 0 0 0.000602 0 0 C8B 732 broad.mit.edu 37 1 57399055 57399055 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:57399055G>A ENST00000543257.1 - 11 1915 c.1349C>T c.(1348-1350)tCc>tTc p.S450F C8B_ENST00000535057.1_Missense_Mutation_p.S440F|C8B_ENST00000371237.4_Missense_Mutation_p.S502F NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 502 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex p.S502F(1) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 ACAGTGGCAGGAACTAACTTC 0.522000 28 56 0 0 0.009535 0 0 RPRD2 23248 broad.mit.edu 37 1 150444874 150444874 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:150444874C>T ENST00000401000.4 + 10 3437 c.3372C>T c.(3370-3372)tcC>tcT p.S1124S RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Silent_p.S1150S Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 1150 protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 AGTTGGCATCCCTTGGGGGTG 0.552000 7 24 0 0 0.001984 0 0 DNAH7 56171 broad.mit.edu 37 2 196651834 196651834 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:196651834C>T ENST00000312428.6 - 58 10878 c.10778G>A c.(10777-10779)cGg>cAg p.R3593Q DNAH7_ENST00000409063.1_Missense_Mutation_p.R76Q NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3593 AAA 6 (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 TCCAAATTTCCGTCTTTCTTG 0.413000 22 37 0 0 0.012319 0 0 SLC35F4 341880 broad.mit.edu 37 14 58055999 58055999 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:58055999G>A ENST00000556826.1 - 3 758 c.522C>T c.(520-522)ttC>ttT p.F174F SLC35F4_ENST00000339762.6_Silent_p.F210F|SLC35F4_ENST00000554729.1_Silent_p.F51F NM_001206920.1 NP_001193849.1 solute carrier family 35, member F4 breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AATAGACTGGGAAAAACATAA 0.348000 17 42 0 0 0.004007 0 0 RASSF2 9770 broad.mit.edu 37 20 4768320 4768320 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:4768320A>G ENST00000379400.3 - 10 967 c.772T>C c.(772-774)Ttc>Ctc p.F258L RASSF2_ENST00000379376.2_Missense_Mutation_p.F258L|RASSF2_ENST00000478553.1_5'UTR NM_014737.2 NP_055552.1 P50749 RASF2_HUMAN Ras association (RalGDS/AF-6) domain family member 2 258 Ras-associating. cell cycle|signal transduction nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 TCCATTAGGAACACTTTGGAG 0.557000 16 27 0 0 0.004007 0 0 FIBIN 387758 broad.mit.edu 37 11 27016343 27016343 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:27016343G>A ENST00000318627.2 + 1 716 c.270G>A c.(268-270)caG>caA p.Q90Q NM_203371.1 NP_976249.1 Q8TAL6 FIBIN_HUMAN fin bud initiation factor homolog (zebrafish) 90 extracellular region|Golgi apparatus breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1) 11 TGGGCCGCCAGGTGGAGGATG 0.667000 7 14 0 0 0.001984 0 0 ARPP21 10777 broad.mit.edu 37 3 35833970 35833970 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:35833970G>A ENST00000187397.4 + 19 2585 c.2129G>A c.(2128-2130)gGa>gAa p.G710E ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000458225.1_Missense_Mutation_p.G711E|ARPP21_ENST00000337271.5_Missense_Mutation_p.G691E|ARPP21_ENST00000417925.1_Missense_Mutation_p.G711E|ARPP21_ENST00000444190.1_Missense_Mutation_p.G691E NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 710 Gln-rich. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 AACCAACAAGGAACTCCGGTG 0.463000 18 42 0 0 0.006122 0 0 ATM 472 broad.mit.edu 37 11 108159737 108159737 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:108159737T>C ENST00000278616.4 + 28 4528 c.4143T>C c.(4141-4143)ttT>ttC p.F1381F ATM_ENST00000452508.2_Silent_p.F1381F NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1381 Interaction with ABL1. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CACCTCATTTTCCATCGCATG 0.343000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 18 54 0 0 0.012319 0 0 NT5DC2 64943 broad.mit.edu 37 3 52562323 52562323 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:52562323G>A ENST00000307076.4 - 6 936 c.536C>T c.(535-537)cCc>cTc p.P179L NT5DC2_ENST00000459839.1_Missense_Mutation_p.P191L|NT5DC2_ENST00000307092.4_Missense_Mutation_p.P120L|NT5DC2_ENST00000422318.2_Missense_Mutation_p.P216L NM_022908.2 NP_075059.1 Q9H857 NT5D2_HUMAN 5'-nucleotidase domain containing 2 179 hydrolase activity|metal ion binding endometrium(1)|lung(3)|prostate(1)|stomach(1) 6 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) CTTAATGGAGGGACCCTGGGG 0.582000 14 79 0 0 0.003163 0 0 IFT52 51098 broad.mit.edu 37 20 42265791 42265791 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:42265791C>T ENST00000373030.3 + 12 1148 c.1018C>T c.(1018-1020)Cct>Tct p.P340S IFT52_ENST00000373039.4_Missense_Mutation_p.P340S NM_016004.2 NP_057088.2 Q9Y366 IFT52_HUMAN intraflagellar transport 52 homolog (Chlamydomonas) 340 intraflagellar transport particle B|microtubule-based flagellum protein C-terminus binding endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) TTAGGTTTTTCCTCCCAGTTT 0.398000 25 44 0 0 0.002780 0 0 PARD3 56288 broad.mit.edu 37 10 34759087 34759087 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:34759087G>A ENST00000374789.3 - 4 833 c.508C>T c.(508-510)Ccc>Tcc p.P170S PARD3_ENST00000340077.5_Missense_Mutation_p.P170S|PARD3_ENST00000374776.1_Missense_Mutation_p.P170S|PARD3_ENST00000545260.1_Missense_Mutation_p.P170S|PARD3_ENST00000374773.1_Missense_Mutation_p.P170S|PARD3_ENST00000350537.4_Missense_Mutation_p.P170S|PARD3_ENST00000545693.1_Missense_Mutation_p.P170S|PARD3_ENST00000374790.3_Missense_Mutation_p.P170S|PARD3_ENST00000346874.4_Missense_Mutation_p.P170S|PARD3_ENST00000374794.3_Missense_Mutation_p.P170S|PARD3_ENST00000374788.3_Missense_Mutation_p.P170S NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 170 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) CAGCGTGTGGGATTTTTCCTT 0.498000 10 44 0 0 0.010729 0 0 MORC1 27136 broad.mit.edu 37 3 108682323 108682323 + Missense_Mutation SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:108682323A>C ENST00000232603.5 - 27 2819 c.2737T>G c.(2737-2739)Tct>Gct p.S913A MORC1_ENST00000483760.1_Missense_Mutation_p.S892A NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 913 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 TTATCCTCAGAGATTTTTCTT 0.343000 12 42 0 0 0.001855 0 0 ATRX 546 broad.mit.edu 37 X 76952146 76952146 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:76952146G>A ENST00000373344.5 - 5 503 c.289C>T c.(289-291)Cct>Tct p.P97S ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.P97S|ATRX_ENST00000373341.1_Missense_Mutation_p.P58S NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 97 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TCATCCAAAGGTTTTTCATCA 0.299000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 37 19 0 0 0.004289 0 0 UNC5D 137970 broad.mit.edu 37 8 35453116 35453116 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:35453116C>T ENST00000287272.2 + 4 531 c.511C>T c.(511-513)Ccc>Tcc p.P171S UNC5D_ENST00000404895.2_Missense_Mutation_p.P171S|UNC5D_ENST00000453357.2_Missense_Mutation_p.P166S|UNC5D_ENST00000416672.1_Missense_Mutation_p.P171S|UNC5D_ENST00000420357.1_Missense_Mutation_p.P171S Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 171 Ig-like C2-type. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) AAGGGAAGTTCCCATTGAAGG 0.493000 31 89 0 0 0.013726 0 0 SULT6B1 391365 broad.mit.edu 37 2 37395156 37395156 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:37395156C>T ENST00000535679.1 - 7 833 c.834G>A c.(832-834)atG>atA p.M278I SULT6B1_ENST00000260637.3_Missense_Mutation_p.M240I|SULT6B1_ENST00000407963.1_Missense_Mutation_p.M240I|SULT6B1_ENST00000379149.2_Missense_Mutation_p.M174I Q6IMI4 ST6B1_HUMAN sulfotransferase family, cytosolic, 6B, member 1 278 cytoplasm sulfotransferase activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1) 12 all_hematologic(82;0.248) ATTTTTCATCCATTTCCTGGT 0.398000 14 45 0 0 0.002450 0 0 PRUNE2 158471 broad.mit.edu 37 9 79267532 79267532 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:79267532G>A ENST00000428286.1 - 11 8547 c.7347C>T c.(7345-7347)atC>atT p.I2449I PRUNE2_ENST00000223609.6_Silent_p.I72I|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000443509.2_Silent_p.I57I|PRUNE2_ENST00000376718.3_Silent_p.I2808I Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2808 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GAGAAAGATTGATATTTGGGG 0.408000 25 124 0 0 0.003954 0 0 CELSR3 1951 broad.mit.edu 37 3 48677424 48677424 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:48677424C>T ENST00000544264.1 - 35 9889 c.9609G>A c.(9607-9609)tcG>tcA p.S3203S CELSR3_ENST00000164024.4_Silent_p.S3198S Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 3198 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CCCGAGAGTTCGAGCTCCTAG 0.662000 14 36 0 0 0.001855 0 0 SLC28A2 9153 broad.mit.edu 37 15 45556876 45556876 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:45556876G>A ENST00000347644.3 + 7 677 c.612G>A c.(610-612)tcG>tcA p.S204S CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA NM_004212.3 NP_004203.2 O43868 S28A2_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 2 204 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity p.S204S(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) CAGTGTTTTCGGGCCTAGGTC 0.418000 21 48 0 0 0.002780 0 0 GUSBP11 91316 broad.mit.edu 37 22 23982586 23982586 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:23982586C>T ENST00000430707.2 - 0 363 TGGCGCCAGTCCAGGAGCCAC 0.607000 10 23 0 0 0.002450 0 0 PGPEP1L 145814 broad.mit.edu 37 15 99512832 99512832 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:99512832C>T ENST00000535714.1 - 4 836 c.31G>A c.(31-33)Gaa>Aaa p.E11K PGPEP1L_ENST00000378919.6_Missense_Mutation_p.E65K|RP11-654A16.3_ENST00000559468.1_RNA NM_001167902.1 NP_001161374.1 A6NFU8 PGPIL_HUMAN pyroglutamyl-peptidase I-like 65 proteolysis cysteine-type peptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1) 14 CCAGACTGTTCCAGAATGATC 0.632000 17 44 0 0 0.006122 0 0 UTRN 7402 broad.mit.edu 37 6 145069578 145069578 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:145069578C>T ENST00000367545.3 + 54 8136 c.8136C>T c.(8134-8136)tcC>tcT p.S2712S UTRN_ENST00000367526.4_Silent_p.S267S NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 2712 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AGGCAGAGTCCGTGCGGAATG 0.493000 10 25 0 0 0.006214 0 0 THEG 51298 broad.mit.edu 37 19 375932 375932 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:375932G>A ENST00000342640.4 - 1 81 c.39C>T c.(37-39)ccC>ccT p.P13P THEG_ENST00000346878.2_Silent_p.P13P NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein 13 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTCAGAGCTGGGCTGGTTCC 0.682000 4 27 0 0 0.000602 0 0 MITF 4286 broad.mit.edu 37 3 70014315 70014315 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:70014315C>T ENST00000352241.4 + 10 1642 c.1479C>T c.(1477-1479)ctC>ctT p.L493L MITF_ENST00000448226.2_Silent_p.L499L|MITF_ENST00000394355.2_Silent_p.L468L|MITF_ENST00000328528.6_Silent_p.L492L|MITF_ENST00000472437.1_Silent_p.L441L|MITF_ENST00000394351.3_Silent_p.L392L|MITF_ENST00000531774.1_Silent_p.L330L|MITF_ENST00000314557.6_Silent_p.L386L|MITF_ENST00000314589.5_Silent_p.L477L NM_198159.2 NP_937802.1 O75030 MITF_HUMAN microphthalmia-associated transcription factor 499 melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2) 30 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) CTGATCCACTCCTTTCCTCAG 0.542000 A melanoma """Waardenburg syndrome type 2, Tietz syndrome""" 18 32 0 0 0.008871 0 0 NAT10 55226 broad.mit.edu 37 11 34165011 34165011 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:34165011G>A ENST00000257829.3 + 28 3111 c.2905G>A c.(2905-2907)Gat>Aat p.D969N NAT10_ENST00000531159.2_Missense_Mutation_p.D897N|NAT10_ENST00000527971.1_Intron|NAT10_ENST00000532555.1_3'UTR NM_024662.2 NP_078938.2 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 969 Required for localization to the nucleolus and midbody. nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) CCGTGGGGACGATGAAGAGTG 0.468000 6 21 0 0 0.003080 0 0 SLC16A9 220963 broad.mit.edu 37 10 61413485 61413485 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:61413485C>T ENST00000395348.3 - 5 1935 c.1299G>A c.(1297-1299)ggG>ggA p.G433G SLC16A9_ENST00000395347.1_Silent_p.G433G NM_194298.2 NP_919274.1 Q7RTY1 MOT9_HUMAN solute carrier family 16, member 9 433 urate metabolic process integral to membrane|plasma membrane symporter activity kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 23 ACATTAATATCCCATAGGCAT 0.403000 14 18 0 0 0.006122 0 0 OTUD7A 161725 broad.mit.edu 37 15 31862347 31862347 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:31862347C>T ENST00000382902.1 - 2 297 c.205G>A c.(205-207)Gtg>Atg p.V69M OTUD7A_ENST00000307050.4_Missense_Mutation_p.V69M Q8TE49 OTU7A_HUMAN OTU domain containing 7A 69 cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) GCTGTGTGCACCTGGCGGAGC 0.572000 9 45 0 0 0.013537 0 0 CYP7A1 1581 broad.mit.edu 37 8 59404243 59404243 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:59404243G>A ENST00000301645.3 - 6 1443 c.1306C>T c.(1306-1308)Ccc>Tcc p.P436S NM_000780.3 NP_000771.2 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, polypeptide 1 436 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1) 34 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) GATCCAAAGGGCATGTAGTAA 0.353000 Neonatal Giant Cell Hepatitis 11 102 0 0 0.010729 0 0 OR3A4P 390756 broad.mit.edu 37 17 3214243 3214243 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:3214243C>T ENST00000573491.1 - 0 359 OR3A4P_ENST00000323164.4_RNA GTGTGGCCCCCTTGGTCCTCA 0.562000 32 32 0 0 0.010818 0 0 RPH3A 22895 broad.mit.edu 37 12 113306318 113306318 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:113306318G>A ENST00000389385.4 + 8 1025 c.528G>A c.(526-528)aaG>aaA p.K176K RPH3A_ENST00000548866.1_Silent_p.K127K|RPH3A_ENST00000447659.2_Silent_p.K127K|RPH3A_ENST00000551052.1_Silent_p.K172K|RPH3A_ENST00000415485.3_Silent_p.K176K|RPH3A_ENST00000543106.2_Silent_p.K176K|RPH3A_ENST00000420983.2_Silent_p.K176K|RPH3A_ENST00000549913.2_3'UTR NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 176 Pro-rich. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) AGAAGACCAAGCCCCAGCAGC 0.597000 31 18 0 0 0.010818 0 0 MAGEA11 4110 broad.mit.edu 37 X 148798242 148798242 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:148798242G>A ENST00000355220.5 + 5 1198 c.1096G>A c.(1096-1098)Gaa>Aaa p.E366K MAGEA11_ENST00000333104.4_Missense_Mutation_p.E337K NM_005366.4 NP_005357.2 P43364 MAGAB_HUMAN melanoma antigen family A, 11 366 MAGE. cytoplasm|nucleus protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 9 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) TTGGGTGCAGGAAAAGTACCT 0.557000 70 42 0 0 0.014410 0 0 APOB 338 broad.mit.edu 37 2 21246531 21246531 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:21246531C>T ENST00000233242.1 - 17 2597 c.2470G>A c.(2470-2472)Gac>Aac p.D824N NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 824 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) AGAAAAAAGTCATTCTTTGAG 0.413000 98 158 0 0 0.014410 0 0 ZBTB14 7541 broad.mit.edu 37 18 5291963 5291963 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:5291963G>A ENST00000357006.4 - 4 582 c.244C>T c.(244-246)Cgt>Tgt p.R82C ZBTB14_ENST00000400143.3_Missense_Mutation_p.R82C NM_001143823.2|NM_001243704.1 NP_001137295.1|NP_001230633.1 zinc finger and BTB domain containing 14 ATATCAGAACGAAGAAAATCT 0.373000 8 32 0 0 0.003080 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45458969 45458969 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:45458969C>T ENST00000548424.1 + 0 448 ATCAAAAGATCCTTGTATTTC 0.438000 7 6 0 0 0.004482 0 0 TM6SF1 53346 broad.mit.edu 37 15 83784641 83784641 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:83784641G>A ENST00000322019.9 + 3 515 c.241G>A c.(241-243)Gga>Aga p.G81R TM6SF1_ENST00000379386.4_Missense_Mutation_p.G81R|TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000565774.1_Missense_Mutation_p.G81R|TM6SF1_ENST00000379390.6_Missense_Mutation_p.G81R Q9BZW5 TM6S1_HUMAN transmembrane 6 superfamily member 1 81 integral to membrane endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 CCTCATCATAGGACTGGAGCA 0.418000 5 39 0 0 0.000602 0 0 WFS1 7466 broad.mit.edu 37 4 6303779 6303779 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:6303779G>A ENST00000226760.1 + 8 2427 c.2257G>A c.(2257-2259)Gag>Aag p.E753K WFS1_ENST00000503569.1_Missense_Mutation_p.E753K NM_001145853.1|NM_006005.3 NP_001139325.1|NP_005996.2 O76024 WFS1_HUMAN Wolfram syndrome 1 (wolframin) 753 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) GGCCGAGGAGGAGCTCTGTCG 0.607000 45 122 0 0 0.014410 0 0 EMR1 2015 broad.mit.edu 37 19 6904116 6904116 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:6904116C>T ENST00000312053.4 + 8 909 c.872C>T c.(871-873)tCc>tTc p.S291F EMR1_ENST00000381404.4_Missense_Mutation_p.S239F|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000250572.8_Missense_Mutation_p.S291F|EMR1_ENST00000381407.5_Missense_Mutation_p.S150F NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 291 EGF-like 6; calcium-binding (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) GCCCTGGGCTCCTACAGCTGT 0.468000 15 41 0 0 0.006122 0 0 UMPS 7372 broad.mit.edu 37 3 124456812 124456812 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:124456812C>T ENST00000232607.2 + 3 814 c.708C>T c.(706-708)atC>atT p.I236I UMPS_ENST00000413078.2_Silent_p.I58I|UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000538242.1_Silent_p.I58I|UMPS_ENST00000536109.1_Silent_p.I144I NM_000373.3 NP_000364.1 P11172 UMPS_HUMAN uridine monophosphate synthetase 236 OMPdecase. 'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process cytosol|nucleus orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(114;0.146) TGCCCAGGATCCACCCAGTTG 0.493000 5 45 0 0 0.001984 0 0 CRISP1 167 broad.mit.edu 37 6 49806236 49806236 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:49806236C>T ENST00000335847.4 - 7 637 c.536G>A c.(535-537)gGa>gAa p.G179E CRISP1_ENST00000355791.2_Missense_Mutation_p.G179E|CRISP1_ENST00000507853.1_Intron|CRISP1_ENST00000329411.5_Intron|CRISP1_ENST00000536021.1_Intron|CRISP1_ENST00000505118.1_Missense_Mutation_p.G179E NM_001131.2 NP_001122.2 P54107 CRIS1_HUMAN cysteine-rich secretory protein 1 179 fusion of sperm to egg plasma membrane extracellular space endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0358) AGGATCATTTCCCCTTGAATA 0.343000 14 57 0 0 0.001855 0 0 SLIT3 6586 broad.mit.edu 37 5 168135005 168135005 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:168135005G>A ENST00000519560.1 - 26 3239 c.2820C>T c.(2818-2820)cgC>cgT p.R940R SLIT3_ENST00000404867.3_Silent_p.R940R|CTC-558O2.1_ENST00000521870.1_RNA|SLIT3_ENST00000332966.8_Silent_p.R947R|CTC-558O2.1_ENST00000522615.1_RNA NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 940 EGF-like 1. 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) GGCAGGCACAGCGGTACAGCT 0.617000 8 22 0 0 0.003080 0 0 BPIFA2 140683 broad.mit.edu 37 20 31761912 31761912 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:31761912G>A ENST00000253362.2 + 4 476 c.330G>A c.(328-330)ctG>ctA p.L110L BPIFA2_ENST00000354932.5_Silent_p.L110L Q96DR5 SPLC2_HUMAN BPI fold containing family A, member 2 110 extracellular region lipid binding CCCTCATCCTGGATGTCAAAG 0.527000 19 41 0 0 0.014323 0 0 LAMA4 3910 broad.mit.edu 37 6 112496546 112496546 + Silent SNP G G A rs3752580 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:112496546G>A ENST00000230538.7 - 11 1723 c.1326C>T c.(1324-1326)ctC>ctT p.L442L LAMA4_ENST00000424408.2_Silent_p.L435L|LAMA4_ENST00000522006.1_Silent_p.L435L|LAMA4_ENST00000389463.4_Silent_p.L435L NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 442 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CCTCATCCACGAGCTCCCGTT 0.493000 30 70 0 0 0.009535 0 0 NGLY1 55768 broad.mit.edu 37 3 25775392 25775392 + Nonsense_Mutation SNP G G A rs146140738 by1000genomes TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:25775392G>A ENST00000428257.1 - 8 1284 c.1177C>T c.(1177-1179)Cga>Tga p.R393* NGLY1_ENST00000417874.2_Nonsense_Mutation_p.R369*|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000396649.3_Nonsense_Mutation_p.R411*|NGLY1_ENST00000280700.5_Nonsense_Mutation_p.R411*|NGLY1_ENST00000467224.1_5'UTR NM_001145293.1 NP_001138765.1 Q96IV0 NGLY1_HUMAN N-glycanase 1 411 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding p.R411*(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 ATAGTGTCTCGAAGTAATGCT 0.358000 18 42 0 0 0.010504 0 0 COG6 57511 broad.mit.edu 37 13 40301618 40301618 + Missense_Mutation SNP C C T rs144843064 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:40301618C>T ENST00000416691.1 + 18 1859 c.1759C>T c.(1759-1761)Cgt>Tgt p.R587C COG6_ENST00000455146.3_Missense_Mutation_p.R587C NM_001145079.1 NP_001138551.1 Q9Y2V7 COG6_HUMAN component of oligomeric golgi complex 6 587 protein transport Golgi membrane|Golgi transport complex NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1) 13 Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168) TCAGTTTGATCGTTATCTGTC 0.328000 8 80 0 0 0.003080 0 0 FMN2 56776 broad.mit.edu 37 1 240601449 240601449 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:240601449G>A ENST00000319653.9 + 16 5229 c.4999G>A c.(4999-5001)Gaa>Aaa p.E1667K FMN2_ENST00000545751.1_Missense_Mutation_p.E263K NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1667 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TATCTGGCATGAATTCAGCTC 0.388000 21 53 0 0 0.010504 0 0 EHMT2 10919 broad.mit.edu 37 6 31864784 31864784 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:31864784G>A ENST00000395728.3 - 1 195 c.196C>T c.(196-198)Cct>Tct p.P66S EHMT2_ENST00000375530.4_Intron|EHMT2_ENST00000375528.4_Missense_Mutation_p.P66S|EHMT2_ENST00000375537.4_Intron Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 616 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 GGGAGACAAGGGACAGGAGGG 0.647000 66 137 0 0 0.014410 0 0 RYR1 6261 broad.mit.edu 37 19 38964079 38964079 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:38964079G>A ENST00000355481.4 + 28 3959 c.3828G>A c.(3826-3828)tgG>tgA p.W1276* RYR1_ENST00000359596.3_Nonsense_Mutation_p.W1276*|RYR1_ENST00000360985.3_Nonsense_Mutation_p.W1276* NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1276 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) ACCGCACCTGGGGCTCCCAGA 0.677000 17 29 0 0 0.006122 0 0 DSG4 147409 broad.mit.edu 37 18 28968350 28968350 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:28968350G>A ENST00000359747.4 + 4 266 c.237G>A c.(235-237)tcG>tcA p.S79S DSG4_ENST00000308128.4_Silent_p.S79S|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 79 Cadherin 1. homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) ACTGCGAATCGAACCAGAAGA 0.413000 11 24 0 0 0.010729 0 0 TRPM2 7226 broad.mit.edu 37 21 45837832 45837832 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr21:45837832G>A ENST00000397928.1 + 21 3614 c.3169G>A c.(3169-3171)Gag>Aag p.E1057K TRPM2_ENST00000300482.5_Missense_Mutation_p.E1057K|TRPM2_ENST00000397932.2_Missense_Mutation_p.E1057K|TRPM2_ENST00000300481.9_Missense_Mutation_p.E1037K|TRPM2_ENST00000498430.1_3'UTR NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1057 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 GCAGGTGCAGGAGCACACGGA 0.632000 6 9 0 0 0.003080 0 0 KIAA1324 57535 broad.mit.edu 37 1 109743402 109743402 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:109743402G>A ENST00000369939.3 + 21 3036 c.2853G>A c.(2851-2853)aaG>aaA p.K951K KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Silent_p.K864K NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 951 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) CTACTCTCAAGGACTGTGACC 0.488000 OREG0013630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 159 335 0 0 0.014410 0 0 OR4D11 219986 broad.mit.edu 37 11 59271645 59271645 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:59271645G>A ENST00000313253.1 + 1 597 c.597G>A c.(595-597)atG>atA p.M199I NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 AGTTCTTGATGATTTCCAACA 0.498000 14 106 0 0 0.002450 0 0 GYS1 2997 broad.mit.edu 37 19 49489290 49489290 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:49489290G>A ENST00000323798.3 - 4 691 c.495C>T c.(493-495)ttC>ttT p.F165F GYS1_ENST00000544287.1_Intron|GYS1_ENST00000541188.1_Silent_p.F85F|GYS1_ENST00000263276.6_Silent_p.F101F|GYS1_ENST00000540532.1_Silent_p.F85F NM_002103.4 NP_002094.2 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) 165 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) TCTGTGCCAGGAACTGTGGGC 0.582000 4 28 0 0 0.001168 0 0 AARS 16 broad.mit.edu 37 16 70311043 70311043 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:70311043G>A ENST00000261772.8 - 3 302 c.159C>T c.(157-159)ttC>ttT p.F53F NM_001605.2 NP_001596.2 P49588 SYAC_HUMAN alanyl-tRNA synthetase 53 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) TTGTGTTCAGGAAAATGGGTT 0.498000 17 39 0 0 0.006122 0 0 CMTM7 112616 broad.mit.edu 37 3 32483433 32483433 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:32483433G>A ENST00000334983.5 + 2 497 c.261G>A c.(259-261)atG>atA p.M87I CMTM7_ENST00000349718.4_Missense_Mutation_p.M87I NM_138410.2 NP_612419.1 Q96FZ5 CKLF7_HUMAN CKLF-like MARVEL transmembrane domain containing 7 87 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity endometrium(1)|large_intestine(1)|lung(2) 4 ACTTGATAATGATCCTCGCCT 0.557000 40 83 0 0 0.007835 0 0 NRXN1 9378 broad.mit.edu 37 2 51254720 51254720 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:51254720C>T ENST00000404971.1 - 2 2031 c.692G>A c.(691-693)gGa>gAa p.G231E NRXN1_ENST00000405472.3_Missense_Mutation_p.G231E|NRXN1_ENST00000405581.1_Missense_Mutation_p.G231E|NRXN1_ENST00000402717.3_Missense_Mutation_p.G231E|NRXN1_ENST00000401669.2_Missense_Mutation_p.G231E|NRXN1_ENST00000406859.3_Missense_Mutation_p.G231E|NRXN1_ENST00000406316.2_Missense_Mutation_p.G231E NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 231 EGF-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) GCACACACCTCCGTTGAGGCA 0.716000 16 6 0 0 0.006122 0 0 MAP7D1 55700 broad.mit.edu 37 1 36645561 36645561 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:36645561G>A ENST00000316156.4 + 15 2747 c.2294G>A c.(2293-2295)gGa>gAa p.G765E MAP7D1_ENST00000373151.2_Missense_Mutation_p.G803E|MAP7D1_ENST00000373148.4_Missense_Mutation_p.G339E|MAP7D1_ENST00000373150.4_Missense_Mutation_p.G770E Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 803 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) TCCACCAACGGACCCTCTGGG 0.597000 14 26 0 0 0.004007 0 0 CYP2F1 1572 broad.mit.edu 37 19 41627997 41627997 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:41627997C>T ENST00000331105.2 + 6 853 c.781C>T c.(781-783)Ccc>Tcc p.P261S NM_000774.3 NP_000765.2 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, polypeptide 1 261 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2) 29 CCCCAGATCTCCCCGGGACTT 0.587000 5 40 0 0 0.000602 0 0 MYH11 4629 broad.mit.edu 37 16 15815375 15815375 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:15815375C>T ENST00000338282.6 - 32 4588 c.4482G>A c.(4480-4482)gaG>gaA p.E1494E MYH11_ENST00000396324.3_Silent_p.E1501E|MYH11_ENST00000300036.5_Silent_p.E1494E|MYH11_ENST00000452625.2_Silent_p.E1501E|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000576790.1_Silent_p.E1494E NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1494 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 CTTCCAAGGCCTCTTCAAGGG 0.542000 T CBFB AML 14 43 0 0 0.002450 0 0 ASTL 431705 broad.mit.edu 37 2 96789922 96789922 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:96789922C>T ENST00000342380.2 - 9 962 c.963G>A c.(961-963)agG>agA p.R321R NM_001002036.3 NP_001002036.3 Q6HA08 ASTL_HUMAN astacin-like metallo-endopeptidase (M12 family) 321 proteolysis metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30 GGTCGGGGCTCCTGGATTCCG 0.657000 12 30 0 0 0.010729 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27538404 27538404 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:27538404G>A ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA CAAATCCAAAGGTTGAACTGT 0.502000 24 96 0 0 0.003954 0 0 FREM1 158326 broad.mit.edu 37 9 14841568 14841568 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:14841568G>A ENST00000380881.4 - 11 2576 c.1761C>T c.(1759-1761)ttC>ttT p.F587F FREM1_ENST00000380880.3_Silent_p.F586F|FREM1_ENST00000422223.2_Silent_p.F586F Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 586 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) CCCTCTGAAGGAAGCCATGGA 0.378000 25 86 0 0 0.012213 0 0 NDNF 79625 broad.mit.edu 37 4 121957507 121957507 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:121957507G>A ENST00000379692.4 - 4 2145 c.1619C>T c.(1618-1620)tCt>tTt p.S540F NM_024574.3 NP_078850.3 Q8TB73 CD031_HUMAN neuron-derived neurotrophic factor 540 Fibronectin type-III 2. breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 CAGCAGGTAAGATTTGCCAGG 0.403000 25 21 0 0 0.005443 0 0 ALPPL2 251 broad.mit.edu 37 2 233272048 233272048 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:233272048G>A ENST00000295453.3 + 3 289 c.237G>A c.(235-237)aaG>aaA p.K79K NM_031313.2 NP_112603.2 P10696 PPBN_HUMAN alkaline phosphatase, placental-like 2 79 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1) 13 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) GGCAGAAGAAGGACAAACTGG 0.587000 4 43 0 0 0.000602 0 0 LIPI 149998 broad.mit.edu 37 21 15538721 15538721 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr21:15538721C>T ENST00000344577.2 - 5 783 c.758G>A c.(757-759)gGa>gAa p.G253E LIPI_ENST00000536861.1_Missense_Mutation_p.G232E NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 232 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity p.G253E(2) endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TTGTTTATTTCCTCCATTTGG 0.343000 19 27 0 0 0.010504 0 0 SPATA16 83893 broad.mit.edu 37 3 172631501 172631501 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:172631501G>A ENST00000351008.3 - 10 1720 c.1537C>T c.(1537-1539)Ctt>Ttt p.L513F NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 513 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) CTTCCTTCAAGGGTGTCCATA 0.358000 10 41 0 0 0.013537 0 0 NFATC1 4772 broad.mit.edu 37 18 77170528 77170528 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:77170528C>T ENST00000253506.5 + 2 622 c.253C>T c.(253-255)Cac>Tac p.H85Y NFATC1_ENST00000542384.1_Missense_Mutation_p.H85Y|NFATC1_ENST00000586434.1_Missense_Mutation_p.H72Y|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000591814.1_Missense_Mutation_p.H85Y|NFATC1_ENST00000329101.4_Missense_Mutation_p.H72Y|NFATC1_ENST00000427363.2_Missense_Mutation_p.H85Y|NFATC1_ENST00000587635.1_Missense_Mutation_p.H85Y|NFATC1_ENST00000318065.5_Missense_Mutation_p.H72Y|NFATC1_ENST00000592223.1_Missense_Mutation_p.H72Y|NFATC1_ENST00000545796.1_Intron NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 85 intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) GCCGGCGGATCACCCCTCGGG 0.726000 19 28 0 0 0.007413 0 0 TRBV27 28560 broad.mit.edu 37 7 142423402 142423402 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:142423402G>A ENST00000506718.1 + 0 410 TRBV27_ENST00000390399.3_RNA AGGCCCCCTGGAAGCCCAAGT 0.493000 8 37 0 0 0.003080 0 0 EGFLAM 133584 broad.mit.edu 37 5 38464033 38464033 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:38464033C>T ENST00000322350.5 + 22 3321 c.2975C>T c.(2974-2976)tCc>tTc p.S992F EGFLAM_ENST00000514476.1_Missense_Mutation_p.S135F|EGFLAM_ENST00000506135.1_Missense_Mutation_p.S135F|EGFLAM_ENST00000336740.6_Missense_Mutation_p.S758F|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000354891.3_Missense_Mutation_p.S1000F|EGFLAM_ENST00000397210.3_Missense_Mutation_p.S135F|EGFLAM_ENST00000397202.2_Missense_Mutation_p.S358F NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 1000 Laminin G-like 3. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TACCACATTTCCCTCGTGGAA 0.498000 17 37 0 0 0.006122 0 0 CFH 3075 broad.mit.edu 37 1 196716363 196716363 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:196716363C>T ENST00000367429.4 + 22 3856 c.3616C>T c.(3616-3618)Cgt>Tgt p.R1206C NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 1206 Sushi 20. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 ACGGGGATATCGTCTTTCATC 0.378000 27 44 0 0 0.007291 0 0 BRINP1 1620 broad.mit.edu 37 9 121971125 121971125 + Silent SNP C C T rs12378280 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:121971125C>T ENST00000265922.3 - 7 1478 c.1017G>A c.(1015-1017)caG>caA p.Q339Q DBC1_ENST00000482797.1_5'UTR NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 339 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 TGTAGCGGTTCTGCAGGTCCC 0.547000 19 43 0 0 0.008871 0 0 RNASE11 122651 broad.mit.edu 37 14 21052174 21052174 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:21052174C>T ENST00000335950.4 - 3 922 c.460G>A c.(460-462)Gaa>Aaa p.E154K RNASE11_ENST00000432835.2_Missense_Mutation_p.E154K|RNASE11_ENST00000398008.2_Missense_Mutation_p.E154K|RNASE11_ENST00000398009.2_Missense_Mutation_p.E154K|RNASE11_ENST00000553849.1_Missense_Mutation_p.E154K|RNASE11_ENST00000555841.1_Missense_Mutation_p.E154K NM_145250.3 NP_660293.1 Q8TAA1 RNS11_HUMAN ribonuclease, RNase A family, 11 (non-active) 154 extracellular region nucleic acid binding|pancreatic ribonuclease activity endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_cancers(95;0.00238) all_lung(585;0.235) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.0139) ACTGTATTTTCCAGTTCTAGG 0.502000 7 23 0 0 0.008291 0 0 ITGB8 3696 broad.mit.edu 37 7 20441433 20441433 + Silent SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:20441433A>G ENST00000222573.3 + 10 2055 c.1371A>G c.(1369-1371)gaA>gaG p.E457E ITGB8_ENST00000537992.1_Silent_p.E322E NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 457 cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 GTTTTAATGAAACCGCTAAAA 0.343000 27 65 0 0 0.008361 0 0 TLL2 7093 broad.mit.edu 37 10 98145829 98145829 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:98145829C>T ENST00000357947.3 - 15 2221 c.1996G>A c.(1996-1998)Gaa>Aaa p.E666K NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 666 CUB 3. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CCTTCCAGTTCAAACACTTCA 0.547000 4 18 0 0 0.001168 0 0 TTBK2 146057 broad.mit.edu 37 15 43075673 43075673 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:43075673C>T ENST00000267890.6 - 11 1249 c.1141G>A c.(1141-1143)Gat>Aat p.D381N TTBK2_ENST00000567274.1_Missense_Mutation_p.D346N|TTBK2_ENST00000567840.1_Missense_Mutation_p.D381N NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 381 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) TCCCAAACATCCTTCTCCTGG 0.428000 59 209 0 0 0.014410 0 0 POU6F2 11281 broad.mit.edu 37 7 39503872 39503872 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:39503872C>T ENST00000559001.1 + 8 1599 c.1498C>T c.(1498-1500)Ctt>Ttt p.L500F POU6F2_ENST00000403058.1_Missense_Mutation_p.L555F|POU6F2_ENST00000518318.2_Intron P78424 PO6F2_HUMAN POU class 6 homeobox 2 555 POU-specific. L -> M (in dbSNP:rs4992268). 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 GAACCCTGGCCTTTTGTATCC 0.547000 31 79 0 0 0.010818 0 0 SCN1A 6323 broad.mit.edu 37 2 166900244 166900244 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:166900244G>A ENST00000423058.2 - 11 1995 c.1978C>T c.(1978-1980)Cct>Tct p.P660S SCN1A_ENST00000375405.3_Missense_Mutation_p.P660S|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.P660S|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Intron NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 660 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GGCGATGTAGGAACTGAAGGT 0.488000 10 48 0 0 0.008291 0 0 CTC1 80169 broad.mit.edu 37 17 8135484 8135484 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:8135484G>A ENST00000315684.8 - 13 2129 c.2122C>T c.(2122-2124)Cat>Tat p.H708Y NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 708 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 GTTGCTGAATGAAGGCAGGGT 0.557000 3 3 0 0 0.004672 0 0 CFAP54 144535 broad.mit.edu 37 12 97137206 97137206 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:97137206C>T ENST00000524981.3 + 20 2599 c.2599C>T c.(2599-2601)Ctc>Ttc p.L867F Q6ZTY8 CL063_HUMAN 841 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 TTGCCTGAGCCTCATCAATGA 0.408000 15 13 0 0 0.004007 0 0 CGB7 94027 broad.mit.edu 37 19 49557627 49557627 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:49557627G>A ENST00000356213.4 - 5 3290 c.413C>T c.(412-414)tCc>tTc p.S138F CGB7_ENST00000377280.3_Missense_Mutation_p.S140F|CGB7_ENST00000597853.1_Missense_Mutation_p.S140F|CGB7_ENST00000596965.1_Missense_Mutation_p.S140F chorionic gonadotropin, beta polypeptide 7 lung(3)|urinary_tract(2) 5 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) GGCCTTTGAGGAAGAGGAGGC 0.632000 19 80 0 0 0.003954 0 0 BAI3 577 broad.mit.edu 37 6 70048811 70048811 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:70048811G>A ENST00000370598.1 + 25 4013 c.3192G>A c.(3190-3192)caG>caA p.Q1064Q BAI3_ENST00000546190.1_Silent_p.Q28Q|BAI3_ENST00000238918.8_Silent_p.Q270Q NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1064 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) TTTGCAGTCAGATGAGTGAGC 0.408000 63 147 0 0 0.014410 0 0 ZNF507 22847 broad.mit.edu 37 19 32873629 32873629 + Silent SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:32873629G>T ENST00000311921.3 + 6 2694 c.2502G>T c.(2500-2502)ctG>ctT p.L834L ZNF507_ENST00000355898.5_Silent_p.L834L|ZNF507_ENST00000544431.1_Silent_p.L838L NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 834 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) TAAGAGTTCTGGGGAAATCCC 0.403000 22 53 3.08376e-08 3.3639e-08 0.003330 1 0 LGALS13 29124 broad.mit.edu 37 19 40097951 40097951 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:40097951C>T ENST00000221797.4 + 4 437 c.392C>T c.(391-393)tCc>tTc p.S131F NM_013268.2 NP_037400.1 Q9UHV8 PP13_HUMAN lectin, galactoside-binding, soluble, 13 131 Galectin. lipid catabolic process|phospholipid metabolic process carboxylesterase activity|lysophospholipase activity|sugar binding lung(5)|ovary(1)|urinary_tract(1) 7 all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116) Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) AGAGATATCTCCCTGACCTCA 0.473000 17 42 0 0 0.006122 0 0 FGD6 55785 broad.mit.edu 37 12 95500772 95500772 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:95500772C>T ENST00000343958.4 - 13 3598 c.3375G>A c.(3373-3375)ggG>ggA p.G1125G FGD6_ENST00000546711.1_Silent_p.G1125G|FGD6_ENST00000549499.1_Silent_p.G1125G NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 1125 PH 1. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 GTTTATACATCCCAGACTGCA 0.368000 21 103 0 0 0.006320 0 0 MARK1 4139 broad.mit.edu 37 1 220808746 220808746 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:220808746G>A ENST00000402574.1 + 12 1748 c.746G>A c.(745-747)gGa>gAa p.G249E MARK1_ENST00000366917.4_Missense_Mutation_p.G384E|MARK1_ENST00000366918.4_Missense_Mutation_p.G362E NM_018650.3 NP_061120.3 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 384 Protein kinase. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) TTATCCAGTGGAAACTTGTGT 0.418000 4 25 0 0 0.009096 0 0 ZFHX4 79776 broad.mit.edu 37 8 77768521 77768521 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:77768521C>T ENST00000521891.2 + 10 9812 c.9364C>T c.(9364-9366)Cca>Tca p.P3122S ZFHX4_ENST00000518282.1_Missense_Mutation_p.P3096S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P3077S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P3077S NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3077 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P3106S(1) 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) GCCGGGATTTCCACAAAATTC 0.512000 HNSCC(33;0.089) 6 21 0 0 0.003080 0 0 LRRC55 219527 broad.mit.edu 37 11 56949566 56949566 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:56949566C>T ENST00000497933.1 + 1 346 c.199C>T c.(199-201)Ctc>Ttc p.L67F NM_001005210.2 NP_001005210.1 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 37 LRRNT. integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 GATCTCCCTCCTCTTGGCAGC 0.632000 10 22 0 0 0.010729 0 0 DSCAM 1826 broad.mit.edu 37 21 41725641 41725641 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr21:41725641C>T ENST00000400454.1 - 5 1162 c.685G>A c.(685-687)Gat>Aat p.D229N NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 229 Ig-like C2-type 3. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TCAAACCCATCCAGTATGGAT 0.517000 5 4 0 0 0.001168 0 0 ERC2 26059 broad.mit.edu 37 3 56044597 56044597 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:56044597C>T ENST00000288221.6 - 9 2055 c.1800G>A c.(1798-1800)ttG>ttA p.L600L NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 600 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GCTGTTCTTTCAAGCGCTCAA 0.388000 40 96 0 0 0.008740 0 0 C15orf54 400360 broad.mit.edu 37 15 39544671 39544671 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:39544671T>A ENST00000318578.3 + 2 703 c.335T>A c.(334-336)aTt>aAt p.I112N RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.I112N NM_207445.2 NP_997328.1 Q8N8G6 CO054_HUMAN chromosome 15 open reading frame 54 112 NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2) 5 all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198) GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706) AACCCAGTGATTTCCAGCGGA 0.418000 14 46 0 0 0.001855 0 0 F2RL2 2151 broad.mit.edu 37 5 75914292 75914292 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:75914292C>T ENST00000296641.4 - 2 443 c.240G>A c.(238-240)gtG>gtA p.V80V IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000396234.3_Intron|F2RL2_ENST00000504899.1_Silent_p.V58V NM_004101.3 NP_004092.1 O00254 PAR3_HUMAN coagulation factor II (thrombin) receptor-like 2 80 platelet activation extracellular region|integral to plasma membrane phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3) 32 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) TAGCATTTTTCACATGGAGAT 0.473000 26 96 0 0 0.007291 0 0 GPR179 440435 broad.mit.edu 37 17 36482961 36482961 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:36482961C>T ENST00000342292.4 - 11 6511 c.6491G>A c.(6490-6492)gGg>gAg p.G2164E GPR179_ENST00000584976.1_Intron NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 2164 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TTCTTCCGTCCCTCCAGGTCC 0.592000 60 31 0 0 0.014410 0 0 EP400 57634 broad.mit.edu 37 12 132562175 132562175 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:132562175C>T ENST00000333577.4 + 54 9546 c.9437C>T c.(9436-9438)cCt>cTt p.P3146L EP400_ENST00000389561.2_Missense_Mutation_p.P3110L|EP400_ENST00000389562.2_Missense_Mutation_p.P3109L|EP400_ENST00000330386.6_Missense_Mutation_p.P3029L|EP400_ENST00000332482.4_Missense_Mutation_p.P3073L Q96L91 EP400_HUMAN E1A binding protein p400 3146 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) ATGAGGGTCCCTGCTGTCAGG 0.612000 6 7 0 0 0.001168 0 0 RBM5 10181 broad.mit.edu 37 3 50155853 50155853 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:50155853G>A ENST00000347869.3 + 25 2587 c.2412G>A c.(2410-2412)cgG>cgA p.R804R RP11-493K19.3_ENST00000425674.1_RNA|RP11-493K19.3_ENST00000437204.1_RNA NM_005778.3 NP_005769.1 P52756 RBM5_HUMAN RNA binding motif protein 5 804 Required for interaction with U2AF2. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2) 19 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ATGCTGTCCGGAAAGCCATGT 0.537000 14 17 0 0 0.004007 0 0 GRM8 2918 broad.mit.edu 37 7 126086142 126086142 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:126086142C>T ENST00000358373.3 - 10 3278 c.2715G>A c.(2713-2715)ggG>ggA p.G905G GRM8_ENST00000339582.2_Intron|GRM8_ENST00000444921.2_Intron NM_001127323.1 NP_001120795.1 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 0 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) AGGAAGTGCTCCCGCTCTTGA 0.458000 HNSCC(24;0.065) 38 75 0 0 0.006230 0 0 SGK2 10110 broad.mit.edu 37 20 42196633 42196633 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:42196633G>A ENST00000373100.1 + 6 682 c.222G>A c.(220-222)aaG>aaA p.K74K SGK2_ENST00000426287.1_Silent_p.K100K|SGK2_ENST00000373077.1_Silent_p.K74K|SGK2_ENST00000423407.3_Silent_p.K74K|SGK2_ENST00000341458.4_Silent_p.K134K|SGK2_ENST00000373092.3_Silent_p.K74K Q9HBY8 SGK2_HUMAN serum/glucocorticoid regulated kinase 2 134 intracellular protein kinase cascade|response to oxidative stress ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) TCTTAAAGAAGAAAGAGGTAC 0.498000 18 29 0 0 0.006122 0 0 TP63 8626 broad.mit.edu 37 3 189597954 189597954 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:189597954C>T ENST00000418709.2 + 11 1479 c.1451C>T c.(1450-1452)tCa>tTa p.S484L TP63_ENST00000437221.1_Missense_Mutation_p.S390L|TP63_ENST00000354600.5_Intron|TP63_ENST00000320472.5_Intron|TP63_ENST00000392463.2_Intron|TP63_ENST00000449992.1_Intron|TP63_ENST00000264731.3_Intron|TP63_ENST00000456148.1_Intron|TP63_ENST00000382063.4_Intron|TP63_ENST00000440651.2_Intron|TP63_ENST00000392460.3_Intron|TP63_ENST00000392461.3_Intron NM_001114979.1 NP_001108451.1 Q9H3D4 P63_HUMAN tumor protein p63 0 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) CCAAACCGATCAGTGTACCCA 0.453000 HNSCC(45;0.13) 17 43 0 0 0.006122 0 0 MUC16 94025 broad.mit.edu 37 19 9045877 9045877 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9045877C>T ENST00000397910.4 - 5 35957 c.35754G>A c.(35752-35754)tgG>tgA p.W11918* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11920 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 TTTCTGTGTTCCAGGAGGTCA 0.493000 43 61 0 0 0.011902 0 0 NPHP4 261734 broad.mit.edu 37 1 5923958 5923958 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:5923958A>T ENST00000378156.4 - 29 4397 c.4132T>A c.(4132-4134)Tcc>Acc p.S1378T NPHP4_ENST00000478423.2_5'UTR NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephronophthisis 4 1378 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) ACCTGGAAGGAGTCCTCTCTG 0.607000 12 41 0 0 0.010729 0 0 LPPR4 9890 broad.mit.edu 37 1 99767441 99767441 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:99767441T>C ENST00000370185.3 + 6 1451 c.954T>C c.(952-954)atT>atC p.I318I LPPR4_ENST00000370184.1_Silent_p.I160I|LPPR4_ENST00000457765.1_Intron NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 318 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) GAGGAGGAATTGCACTGTACT 0.348000 21 44 0 0 0.004656 0 0 CACNA1A 773 broad.mit.edu 37 19 13409891 13409891 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:13409891C>T ENST00000360228.5 - 19 2555 c.2556G>A c.(2554-2556)caG>caA p.Q852Q CACNA1A_ENST00000573710.2_Silent_p.Q853Q NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 853 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CCTCGGCGCGCTGCTGGCCGA 0.726000 8 13 0 0 0.003080 0 0 GRIA1 2890 broad.mit.edu 37 5 153190776 153190776 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:153190776G>A ENST00000285900.5 + 16 3055 c.2712G>A c.(2710-2712)acG>acA p.T904T GRIA1_ENST00000521843.2_Silent_p.T835T|GRIA1_ENST00000518142.1_Silent_p.T824T|GRIA1_ENST00000340592.5_Silent_p.T904T|GRIA1_ENST00000518783.1_Silent_p.T914T|GRIA1_ENST00000448073.4_Silent_p.T914T NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 904 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TGGGAGCCACGGGATTGTAAC 0.557000 5 18 0 0 0.003080 0 0 EFCAB6 64800 broad.mit.edu 37 22 43996129 43996129 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:43996129C>T ENST00000262726.7 - 23 2949 c.2696G>A c.(2695-2697)gGa>gAa p.G899E EFCAB6_ENST00000396231.2_Missense_Mutation_p.G747E NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 899 EF-hand 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding p.G899V(1) 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) GTGCCCTTTTCCCTCGGTGTC 0.428000 17 94 0 0 0.004990 0 0 LILRA1 11024 broad.mit.edu 37 19 55106129 55106129 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:55106129G>A ENST00000453777.1 + 4 240 c.e4-1 LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_Splice_Site|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Splice_Site NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TTTCCTTCCAGGGACCCTCCC 0.582000 21 51 0 0 0.014323 0 0 OC90 729330 broad.mit.edu 37 8 133044178 133044178 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:133044178G>A ENST00000262283.5 - 16 1716 c.1617C>T c.(1615-1617)ggC>ggT p.G539G OC90_ENST00000603859.1_Silent_p.G327G|OC90_ENST00000443356.2_Silent_p.G343G|OC90_ENST00000254627.3_Silent_p.G327G Q02509 OC90_HUMAN otoconin 90 343 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) CACAGTAACAGCCATAAGACT 0.542000 19 32 0 0 0.007413 0 0 SLC9A2 6549 broad.mit.edu 37 2 103317563 103317563 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:103317563C>T ENST00000233969.2 + 8 1763 c.1621C>T c.(1621-1623)Ctt>Ttt p.L541F SLC9A2_ENST00000469286.1_3'UTR NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 541 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TCTGCGGAAGCTTTTGATTCG 0.303000 12 41 0 0 0.003163 0 0 SGSM1 129049 broad.mit.edu 37 22 25270516 25270516 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:25270516C>T ENST00000400359.4 + 13 1433 c.1426C>T c.(1426-1428)Ccc>Tcc p.P476S SGSM1_ENST00000400358.4_Intron NM_001039948.2|NM_133454.2 NP_001035037.1|NP_597711.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 476 Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 CACTACTCTCCCCACGCCAAG 0.637000 6 9 0 0 0.001168 0 0 GKN2 200504 broad.mit.edu 37 2 69173457 69173457 + Missense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:69173457C>A ENST00000481498.1 - 5 469 c.451G>T c.(451-453)Ggg>Tgg p.G151W GKN2_ENST00000328895.4_Missense_Mutation_p.G151W Q86XP6 GKN2_HUMAN gastrokine 2 151 BRICHOS. extracellular region autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1) 15 ACCACTTCCCCCTTATACAAA 0.453000 35 77 2.32173e-10 2.53863e-10 0.004878 1 0 TIAM1 7074 broad.mit.edu 37 21 32638800 32638800 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr21:32638800C>T ENST00000286827.3 - 5 960 c.489G>A c.(487-489)gcG>gcA p.A163A TIAM1_ENST00000541036.1_Silent_p.A163A|TIAM1_ENST00000469412.1_Intron NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 163 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 TCTTAAAGCTCGCCGTCTCCA 0.512000 44 30 0 0 0.014410 0 0 CYP2D6 1565 broad.mit.edu 37 22 42525765 42525765 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:42525765G>A ENST00000360608.5 - 2 441 c.327C>T c.(325-327)atC>atT p.I109I NDUFA6-AS1_ENST00000416037.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000359033.4_Silent_p.I109I|CYP2D6_ENST00000389970.3_Silent_p.I109I NM_000106.5 NP_000097.3 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, polypeptide 6 109 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 CGAAACCCAGGATCTGGGTGA 0.697000 14 21 0 0 0.002450 0 0 CCDC14 64770 broad.mit.edu 37 3 123633917 123633917 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:123633917G>A ENST00000485727.1 - 9 6563 c.1971C>T c.(1969-1971)ctC>ctT p.L657L CCDC14_ENST00000433542.2_Silent_p.L816L|CCDC14_ENST00000483247.1_5'UTR|CCDC14_ENST00000310351.4_Silent_p.L697L|CCDC14_ENST00000488653.2_Silent_p.L857L|CCDC14_ENST00000489746.1_Silent_p.L657L Q49A88 CCD14_HUMAN coiled-coil domain containing 14 857 centrosome NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10) 21 Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205) Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159) TTATTTTCTTGAGGAGCTGTG 0.458000 9 30 0 0 0.008291 0 0 OR52L1 338751 broad.mit.edu 37 11 6007653 6007653 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:6007653C>T ENST00000332249.4 - 1 562 c.508G>A c.(508-510)Gga>Aga p.G170R NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGTAGTAATCCCCTCACCAGC 0.498000 6 49 0 0 0.001984 0 0 EMILIN2 84034 broad.mit.edu 37 18 2891879 2891879 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:2891879C>T ENST00000254528.3 + 4 1913 c.1754C>T c.(1753-1755)tCt>tTt p.S585F NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 585 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) CTTTTGAAATCTCTCAACGAC 0.458000 7 28 0 0 0.003080 0 0 ADCY8 114 broad.mit.edu 37 8 131792927 131792927 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:131792927C>T ENST00000286355.5 - 18 5557 c.3465G>A c.(3463-3465)gtG>gtA p.V1155V ADCY8_ENST00000377928.3_Silent_p.V1024V NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 1155 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|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TGATACCCTTCACATAGATCT 0.517000 HNSCC(32;0.087) 31 59 0 0 0.009535 0 0 DNAH1 25981 broad.mit.edu 37 3 52383297 52383297 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:52383297C>T ENST00000420323.2 + 14 2648 c.2387C>T c.(2386-2388)tCg>tTg p.S796L NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 796 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CTGGACAGCTCGCTGCCCAGC 0.597000 12 20 0 0 0.013537 0 0 DNAH5 1767 broad.mit.edu 37 5 13762882 13762882 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:13762882C>T ENST00000265104.4 - 60 10334 c.10230G>A c.(10228-10230)acG>acA p.T3410T DNAH5_ENST00000504001.3_5'UTR NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3410 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) CCATAGCTTTCGTCCAGGAAC 0.453000 Kartagener syndrome 14 27 0 0 0.003163 0 0 RNF128 79589 broad.mit.edu 37 X 106016214 106016214 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:106016214G>A ENST00000255499.2 + 2 806 c.556G>A c.(556-558)Ggc>Agc p.G186S RNF128_ENST00000324342.3_Missense_Mutation_p.G160S NM_194463.1 NP_919445.1 Q8TEB7 RN128_HUMAN ring finger protein 128, E3 ubiquitin protein ligase 186 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 TATTCAAAGAGGCATACAAGT 0.343000 32 10 0 0 0.009535 0 0 NFIA 4774 broad.mit.edu 37 1 61824904 61824904 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:61824904G>A ENST00000403491.3 + 6 1388 c.904G>A c.(904-906)Gga>Aga p.G302R NFIA_ENST00000485903.2_Missense_Mutation_p.G302R|NFIA_ENST00000371191.1_Missense_Mutation_p.G325R|NFIA_ENST00000371189.4_Missense_Mutation_p.G347R|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000371187.3_Missense_Mutation_p.G302R|NFIA_ENST00000371185.2_Missense_Mutation_p.G280R|NFIA_ENST00000407417.3_Missense_Mutation_p.G294R|NFIA_ENST00000371184.2_Intron NM_001134673.3|NM_005595.4 NP_001128145.1|NP_005586.1 Q12857 NFIA_HUMAN nuclear factor I/A 302 DNA replication|viral genome replication cell junction|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NFIA/EHF(2) endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1) 34 GCGCTCCCCAGGAAGTGGCAG 0.522000 21 73 0 0 0.014323 0 0 SCN10A 6336 broad.mit.edu 37 3 38760147 38760147 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:38760147C>T ENST00000449082.2 - 20 3677 c.3678G>A c.(3676-3678)gtG>gtA p.V1226V NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1226 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CACTCACATTCACAATGAGGA 0.532000 15 30 0 0 0.004990 0 0 STAB1 23166 broad.mit.edu 37 3 52553332 52553332 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:52553332C>T ENST00000321725.6 + 49 5163 c.5087C>T c.(5086-5088)gCc>gTc p.A1696V NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1696 FAS1 5. 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) GACCATGAGGCCGTGAACGGC 0.637000 51 107 0 0 0.014410 0 0 PON1 5444 broad.mit.edu 37 7 95025659 95025659 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:95025659C>T ENST00000542556.1 - 1 14 c.4G>A c.(4-6)Ggg>Agg p.G2R PON3_ENST00000265627.5_Missense_Mutation_p.G2R|PON3_ENST00000427422.1_Missense_Mutation_p.G2R P27169 PON1_HUMAN paraoxonase 1 2 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 27 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) ACGAGCTTCCCCATGGTCTCG 0.701000 21 36 0 0 0.003330 0 0 NBPF22P 285622 broad.mit.edu 37 5 85578703 85578703 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:85578703G>A ENST00000590707.1 + 0 426 NR_003719.2 ACCTCAAAGAGAAATTCCTTA 0.453000 11 17 0 0 0.008291 0 0 IARS 3376 broad.mit.edu 37 9 95050137 95050137 + Missense_Mutation SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:95050137A>C ENST00000375643.3 - 4 598 c.332T>G c.(331-333)aTg>aGg p.M111R IARS_ENST00000447699.2_Start_Codon_SNP_p.M1R|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.M111R NM_013417.2 NP_038203.2 P41252 SYIC_HUMAN isoleucyl-tRNA synthetase 111 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) TGTAATCCCCATTTTGGCCAC 0.403000 14 22 0 0 0.004007 0 0 KCNU1 157855 broad.mit.edu 37 8 36641933 36641933 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:36641933T>A ENST00000399881.3 + 1 42 c.5T>A c.(4-6)tTt>tAt p.F2Y NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 2 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) TCGAACATGTTTCAGACTAAG 0.458000 6 14 0 0 0.001984 0 0 HYDIN 54768 broad.mit.edu 37 16 70977742 70977742 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:70977742G>A ENST00000393567.2 - 42 6792 c.6642C>T c.(6640-6642)ctC>ctT p.L2214L NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2214 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GGATCTGCACGAGAAGTTCAT 0.642000 6 22 0 0 0.001168 0 0 SCN2A 6326 broad.mit.edu 37 2 166210825 166210825 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:166210825G>A ENST00000375437.2 + 17 3333 c.3043G>A c.(3043-3045)Gat>Aat p.D1015N SCN2A_ENST00000283256.6_Missense_Mutation_p.D1015N|SCN2A_ENST00000375427.2_Missense_Mutation_p.D1015N|SCN2A_ENST00000357398.3_Missense_Mutation_p.D1015N NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1015 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GAAAGGAATCGATTTTGTTAA 0.348000 36 51 0 0 0.003755 0 0 ALG9 79796 broad.mit.edu 37 11 111749799 111749799 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:111749799G>A ENST00000524880.1 - 1 350 c.58C>T c.(58-60)Ctg>Ttg p.L20L FDXACB1_ENST00000542429.1_5'UTR|C11orf1_ENST00000528125.1_Intron|FDXACB1_ENST00000260257.4_Silent_p.L20L Q9H6U8 ALG9_HUMAN ALG9, alpha-1,2-mannosyltransferase 320 dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587) GTTTCGCTCAGAGCGGCGGCG 0.657000 OREG0021330 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 29 0 0 0.003163 0 0 MYH6 4624 broad.mit.edu 37 14 23855677 23855677 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:23855677G>A ENST00000405093.3 - 33 4876 c.4806C>T c.(4804-4806)tcC>tcT p.S1602S MYH6_ENST00000356287.3_Silent_p.S1602S NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1602 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CTGCATCCAGGGAGGTCTGCA 0.592000 21 119 0 0 0.012319 0 0 ZNF99 7652 broad.mit.edu 37 19 22940532 22940532 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:22940532G>A ENST00000397104.3 - 5 1905 c.1906C>T c.(1906-1908)Cat>Tat p.H636Y ZNF99_ENST00000596209.1_Missense_Mutation_p.H727Y 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) TCTCCAGTATGAATTATCTCA 0.358000 6 15 0 0 0.003080 0 0 SPAG16 79582 broad.mit.edu 37 2 214354720 214354720 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:214354720C>T ENST00000331683.5 + 10 1071 c.976C>T c.(976-978)Cca>Tca p.P326S SPAG16_ENST00000374309.3_Missense_Mutation_p.P232S NM_024532.4 NP_078808.3 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 326 cilium assembly cilium axoneme|flagellar axoneme endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) GCAACCAAATCCAAACCTGAA 0.353000 17 48 0 0 0.008871 0 0 TSGA10IP 254187 broad.mit.edu 37 11 65714719 65714719 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:65714719C>T ENST00000532620.1 + 0 654 Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein endometrium(2)|kidney(3)|lung(9) 14 CCTCCTCGTTCTCCCAGCGTC 0.652000 3 7 0 0 0.004672 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576745 158576745 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:158576745G>A ENST00000361284.1 + 1 517 c.517G>A c.(517-519)Gaa>Aaa p.E173K NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 173 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) CAGCTCCCATGAAATCCAGCA 0.498000 15 93 0 0 0.003163 0 0 TRPV1 7442 broad.mit.edu 37 17 3494609 3494609 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:3494609T>C ENST00000174621.6 - 3 536 c.247A>G c.(247-249)Aga>Gga p.R83G TRPV1_ENST00000425167.2_Missense_Mutation_p.K108R|TRPV1_ENST00000399759.3_Missense_Mutation_p.K108R|TRPV1_ENST00000399756.4_Missense_Mutation_p.K108R|TRPV1_ENST00000576351.1_Missense_Mutation_p.K108R|TRPV1_ENST00000571088.1_Missense_Mutation_p.K108R|TRPV1_ENST00000310522.5_Missense_Mutation_p.K108R|SHPK_ENST00000572705.1_Missense_Mutation_p.K108R Q8NER1 TRPV1_HUMAN transient receptor potential cation channel, subfamily V, member 1 782 cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 17 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) CCTGAGGGTCTTCTCGGTGCT 0.597000 13 30 0 0 0.003163 0 0 VWA8 23078 broad.mit.edu 37 13 42407593 42407593 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:42407593G>A ENST00000379310.3 - 13 1568 c.1500C>T c.(1498-1500)ccC>ccT p.P500P VWA8_ENST00000281496.6_Silent_p.P500P NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 CATTCACAAGGGGTGAGGACC 0.542000 5 25 0 0 0.000602 0 0 MAPK10 5602 broad.mit.edu 37 4 87019692 87019692 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:87019692A>G ENST00000395169.3 - 9 1393 c.673T>C c.(673-675)Ttt>Ctt p.F225L MAPK10_ENST00000359221.3_Missense_Mutation_p.F263L|MAPK10_ENST00000395157.3_Missense_Mutation_p.F118L|MAPK10_ENST00000449047.2_Intron|MAPK10_ENST00000395166.1_Missense_Mutation_p.F225L|MAPK10_ENST00000395160.3_Missense_Mutation_p.F118L|MAPK10_ENST00000361569.2_Missense_Mutation_p.F263L|MAPK10_ENST00000395161.2_Missense_Mutation_p.F263L NM_138980.2|NM_138982.2 NP_620446.1|NP_620448.1 P53779 MK10_HUMAN mitogen-activated protein kinase 10 263 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding breast(1)|central_nervous_system(1)|stomach(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) CTTCCTGGAAAGAGGATTTTG 0.418000 34 27 0 0 0.007835 0 0 OR52A1 23538 broad.mit.edu 37 11 5172912 5172912 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:5172912G>A ENST00000380367.1 - 2 1105 c.688C>T c.(688-690)Cgt>Tgt p.R230C OR52A1_ENST00000328942.1_Missense_Mutation_p.R230C Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, member 1 230 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) TGGGGCAAACGAAAAACTGTG 0.423000 9 40 0 0 0.004482 0 0 BSCL2 26580 broad.mit.edu 37 11 62458112 62458112 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:62458112T>C ENST00000433053.1 - 11 1762 c.1206A>G c.(1204-1206)gaA>gaG p.E402E BSCL2_ENST00000403550.1_Silent_p.E338E|BSCL2_ENST00000421906.1_Silent_p.E338E|BSCL2_ENST00000405837.1_Silent_p.E404E|BSCL2_ENST00000360796.5_Silent_p.E402E|BSCL2_ENST00000278893.7_3'UTR|BSCL2_ENST00000407022.3_Silent_p.E338E|RP11-831H9.16_ENST00000403734.2_3'UTR Q96G97 BSCL2_HUMAN Berardinelli-Seip congenital lipodystrophy 2 (seipin) 338 cell death integral to endoplasmic reticulum membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 12 CTAGCTCCTCTTCTCCGCTCA 0.572000 22 115 0 0 0.003330 0 0 HTR1A 3350 broad.mit.edu 37 5 63257112 63257112 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:63257112C>T ENST00000323865.3 - 1 668 c.435G>A c.(433-435)gtG>gtA p.V145V RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 145 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TCCTCTTGTTCACGTAGTCGA 0.642000 8 31 0 0 0.004482 0 0 MMP20 9313 broad.mit.edu 37 11 102465401 102465401 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:102465401C>T ENST00000260228.2 - 7 1053 c.1041G>A c.(1039-1041)gtG>gtA p.V347V NM_004771.3 NP_004762.2 O60882 MMP20_HUMAN matrix metallopeptidase 20 347 Hemopexin-like 2. proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) AAGCTGCATCCACATTGGACA 0.527000 4 32 0 0 0.009096 0 0 BCAT1 586 broad.mit.edu 37 12 25002804 25002804 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:25002804C>T ENST00000261192.7 - 6 1116 c.590G>A c.(589-591)gGa>gAa p.G197E BCAT1_ENST00000539282.1_Missense_Mutation_p.G209E|BCAT1_ENST00000342945.5_Missense_Mutation_p.G136E|BCAT1_ENST00000538118.1_Missense_Mutation_p.G196E|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539780.1_Missense_Mutation_p.G160E NM_001178091.1|NM_005504.6 NP_001171562.1|NP_005495.2 P54687 BCAT1_HUMAN branched chain amino-acid transaminase 1, cytosolic 197 branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle cytosol L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity breast(1)|large_intestine(1)|lung(3)|prostate(2) 7 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196) Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114) ATTAAAGGTTCCACTTGAAAA 0.478000 53 37 0 0 0.014410 0 0 NKRF 55922 broad.mit.edu 37 X 118725046 118725046 + Silent SNP A A G rs148494768 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:118725046A>G ENST00000371527.1 - 2 994 c.342T>C c.(340-342)taT>taC p.Y114Y NKRF_ENST00000304449.5_Silent_p.Y114Y|NKRF_ENST00000487600.1_5'UTR|NKRF_ENST00000542113.1_Silent_p.Y129Y NM_001173488.1 NP_001166959.1 O15226 NKRF_HUMAN NFKB repressing factor 114 Active repression domain. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 30 ATGAATCACAATACTGAGAAT 0.423000 37 19 0 0 0.006230 0 0 BCORL1 63035 broad.mit.edu 37 X 129189886 129189886 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:129189886G>A ENST00000540052.1 + 12 4955 c.4911G>A c.(4909-4911)agG>agA p.R1637R BCORL1_ENST00000218147.7_Silent_p.R1637R|BCORL1_ENST00000359304.2_Silent_p.R1507R|BCORL1_ENST00000303743.5_Silent_p.R1711R NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1637 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 TTTCCTCGAGGATCTTTCAGG 0.562000 69 37 0 0 0.014410 0 0 PRKD1 5587 broad.mit.edu 37 14 30102112 30102112 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:30102112G>A ENST00000331968.5 - 9 1584 c.1355C>T c.(1354-1356)aCc>aTc p.T452I PRKD1_ENST00000415220.2_Missense_Mutation_p.T460I NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 452 PH. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) CTGAAAGAGGGTAATACATTT 0.368000 25 88 0 0 0.006320 0 0 CCDC60 160777 broad.mit.edu 37 12 119943007 119943007 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:119943007C>T ENST00000327554.2 + 7 1247 c.782C>T c.(781-783)tCg>tTg p.S261L RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 261 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) AACCCTGGCTCGGATGAGCCC 0.567000 44 86 0 0 0.014410 0 0 SNHG14 104472715 broad.mit.edu 37 15 25434615 25434615 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:25434615C>T ENST00000424208.1 + 0 937 SNHG14_ENST00000414175.1_RNA|SNORD115-11_ENST00000363616.1_RNA NR_003305.1 ACTTAAAAATCATGCTCAATA 0.512000 58 158 0 0 0.014410 0 0 ZNF536 9745 broad.mit.edu 37 19 30936569 30936569 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:30936569C>T ENST00000355537.3 + 2 2247 c.2100C>T c.(2098-2100)gtC>gtT p.V700V NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 700 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) AGAGCGGGGTCGGAGGCGGCC 0.692000 10 22 0 0 0.006214 0 0 CASP14 23581 broad.mit.edu 37 19 15166036 15166036 + Missense_Mutation SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:15166036A>C ENST00000427043.3 + 5 779 c.471A>C c.(469-471)caA>caC p.Q157H CASP14_ENST00000221740.1_Missense_Mutation_p.Q157H NM_012114.2 NP_036246.1 P31944 CASPE_HUMAN caspase 14, apoptosis-related cysteine peptidase 157 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3) 26 ACAGCCCACAAACCATCCCAA 0.522000 15 50 0 0 0.002450 0 0 AVPR1A 552 broad.mit.edu 37 12 63541221 63541221 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:63541221C>T ENST00000299178.2 - 2 1280 c.1175G>A c.(1174-1176)cGa>cAa p.R392Q NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 392 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) TGTTGGGCTTCGATTGTTAGA 0.403000 57 32 0 0 0.014410 0 0 NLRP4 147945 broad.mit.edu 37 19 56368969 56368969 + Translation_Start_Site SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:56368969A>T ENST00000587891.1 + 0 159 NLRP4_ENST00000301295.6_Intron|NLRP4_ENST00000346986.5_Intron Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) ACATCCTGAGAAGAAAAAAAG 0.443000 5 14 0 0 0.000602 0 0 TSEN15 116461 broad.mit.edu 37 1 184041970 184041970 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:184041970C>T ENST00000361641.1 + 5 584 c.505C>T c.(505-507)Ctt>Ttt p.L169F TSEN15_ENST00000423085.2_Silent_p.L121L|TSEN15_ENST00000533373.1_Missense_Mutation_p.S134F NM_052965.2 NP_443197.1 Q8WW01 SEN15_HUMAN TSEN15 tRNA splicing endonuclease subunit 169 mRNA processing|tRNA processing nucleolus protein binding breast(1)|kidney(3)|large_intestine(2)|lung(2) 8 GAATATTTCTCTTAGAAGATG 0.313000 8 39 0 0 0.010729 0 0 KMT2C 58508 broad.mit.edu 37 7 151927079 151927079 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:151927079C>T ENST00000355193.2 - 18 3123 c.2905G>A c.(2905-2907)Gga>Aga p.G969R KMT2C_ENST00000262189.6_Missense_Mutation_p.G969R lysine (K)-specific methyltransferase 2C CCTTCTGCTCCTTGGCCAAAA 0.348000 9 271 0 0 0.014323 0 0 GABRD 2563 broad.mit.edu 37 1 1956779 1956779 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:1956779C>T ENST00000378585.4 + 3 271 c.188C>T c.(187-189)cCc>cTc p.P63L NM_000815.4 NP_000806.2 O14764 GBRD_HUMAN gamma-aminobutyric acid (GABA) A receptor, delta 63 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) GCAGGCCCCCCCGTGAATGTG 0.652000 24 91 0 0 0.007291 0 0 MAP3K5 4217 broad.mit.edu 37 6 136980443 136980443 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:136980443A>T ENST00000359015.4 - 9 1800 c.1440T>A c.(1438-1440)ttT>ttA p.F480L NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 480 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) CCCCCAGAAAAAATCCAACTT 0.413000 27 48 0 0 0.006320 0 0 CUL5 8065 broad.mit.edu 37 11 107925391 107925391 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:107925391C>T ENST00000393094.2 + 6 1187 c.571C>T c.(571-573)Cct>Tct p.P191S NM_003478.3 NP_003469.2 Q93034 CUL5_HUMAN cullin 5 191 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) TTGTTCTAATCCTGAGGATAA 0.289000 6 18 0 0 0.001168 0 0 CAMK4 814 broad.mit.edu 37 5 110820078 110820078 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:110820078G>A ENST00000282356.4 + 11 1734 c.1336G>A c.(1336-1338)Gag>Aag p.E446K CAMK4_ENST00000512453.1_Missense_Mutation_p.E446K|CAMK4_ENST00000512890.1_3'UTR NM_001744.4 NP_001735.1 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 446 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) GACTGTGGAGGAGGCAGCAGC 0.552000 5 23 0 0 0.000602 0 0 BMP10 27302 broad.mit.edu 37 2 69093240 69093240 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:69093240C>T ENST00000295379.1 - 2 956 c.798G>A c.(796-798)agG>agA p.R266R NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 266 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 GTTCCTCCTTCCTCTCCTTGT 0.483000 22 31 0 0 0.010504 0 0 CBLN2 147381 broad.mit.edu 37 18 70205891 70205891 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:70205891G>A ENST00000269503.4 - 4 1247 c.474C>T c.(472-474)atC>atT p.I158I CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000585159.1_Silent_p.I158I|CBLN2_ENST00000584764.1_Silent_p.I42I|CBLN2_ENST00000581073.1_Silent_p.I44I NM_182511.3 NP_872317.1 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 158 C1q. integral to membrane endometrium(2)|lung(15) 17 Esophageal squamous(42;0.131) TACCCACCTGGATGGTTTGTC 0.458000 18 66 0 0 0.010504 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18195409 18195409 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:18195409C>T ENST00000314254.3 + 1 1026 c.606C>T c.(604-606)atC>atT p.I202I RP11-113D6.6_ENST00000527671.1_Intron NM_054032.3 NP_473373.2 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 202 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 TGGTCAGGATCCTCTGTGGAT 0.547000 24 39 0 0 0.002780 0 0 KCNB1 3745 broad.mit.edu 37 20 47990547 47990547 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:47990547G>A ENST00000371741.4 - 2 1716 c.1550C>T c.(1549-1551)tCg>tTg p.S517L NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 517 Poly-Ser. energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) ACTAGAAGACGATCTGGCTTT 0.463000 60 142 0 0 0.014410 0 0 SCN11A 11280 broad.mit.edu 37 3 38991643 38991643 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:38991643G>A ENST00000450244.1 - 1 409 c.211C>T c.(211-213)Cgt>Tgt p.R71C SCN11A_ENST00000302328.3_Missense_Mutation_p.R71C|SCN11A_ENST00000444237.2_Missense_Mutation_p.R71C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R71C Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 71 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ATGAGCTCACGAGGAATGTCG 0.552000 29 119 0 0 0.010818 0 0 ADRA2B 151 broad.mit.edu 37 2 96781380 96781380 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:96781380G>A ENST00000409345.3 - 1 604 c.509C>T c.(508-510)gCc>gTc p.A170V NM_000682.5 NP_000673.2 P18089 ADA2B_HUMAN adrenoceptor alpha 2B 170 activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding endometrium(2)|large_intestine(2)|lung(9)|ovary(3) 16 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) GATGTACCAGGCCTCCTGGTT 0.627000 10 29 0 0 0.010729 0 0 ATP10B 23120 broad.mit.edu 37 5 160061514 160061514 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:160061514C>T ENST00000327245.5 - 12 2074 c.1228G>A c.(1228-1230)Gat>Aat p.D410N CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 410 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATGGATAAATCGGTCTCTTCA 0.493000 28 74 0 0 0.013726 0 0 LENG8 114823 broad.mit.edu 37 19 54967259 54967259 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:54967259C>T ENST00000326764.5 + 9 1618 c.1139C>T c.(1138-1140)tCc>tTc p.S380F LENG8_ENST00000376514.2_Intron NM_052925.2 NP_443157.1 Q96PV6 LENG8_HUMAN leukocyte receptor cluster (LRC) member 8 343 Ser-rich. protein binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) GGTGCCCCGTCCCAGCGAGGG 0.672000 18 34 0 0 0.004990 0 0 ESPNL 339768 broad.mit.edu 37 2 239038790 239038790 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:239038790C>T ENST00000343063.3 + 9 1698 c.1435C>T c.(1435-1437)Ccc>Tcc p.P479S ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Missense_Mutation_p.P435S|ESPNL_ENST00000409506.1_Missense_Mutation_p.P111S NM_194312.2 NP_919288.2 Q6ZVH7 ESPNL_HUMAN espin-like 479 endometrium(1)|lung(8)|pancreas(2)|skin(2) 13 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) GAGCTCAGGCCCCACGGAGCA 0.632000 4 14 0 0 0.000602 0 0 IGSF1 3547 broad.mit.edu 37 X 130415673 130415673 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:130415673G>A ENST00000370904.1 - 14 2375 c.1465C>T c.(1465-1467)Cgc>Tgc p.R489C IGSF1_ENST00000361420.3_Missense_Mutation_p.R498C|IGSF1_ENST00000370903.3_Missense_Mutation_p.R498C|IGSF1_ENST00000370910.1_Missense_Mutation_p.R489C Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 498 Ig-like C2-type 5. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 GGCTCACTGCGATGTGACCAG 0.527000 19 13 0 0 0.007413 0 0 TRAPPC12 51112 broad.mit.edu 37 2 3428392 3428392 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:3428392C>T ENST00000324266.5 + 5 1570 c.1375C>T c.(1375-1377)Ctt>Ttt p.L459F TRAPPC12_ENST00000469147.1_3'UTR|TRAPPC12_ENST00000382110.2_Missense_Mutation_p.L459F NM_016030.5 NP_057114.5 Q8WVT3 TTC15_HUMAN trafficking protein particle complex 12 459 binding p.L459I(1) TCAGCCAGATCTTTATTACGA 0.463000 34 137 0 0 0.004878 0 0 PTPN3 5774 broad.mit.edu 37 9 112168865 112168865 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:112168865C>T ENST00000412145.1 - 13 3829 c.1276G>A c.(1276-1278)Gat>Aat p.D426N PTPN3_ENST00000374541.2_Missense_Mutation_p.D557N|PTPN3_ENST00000394827.3_Missense_Mutation_p.D25N|PTPN3_ENST00000262539.3_Missense_Mutation_p.D403N|PTPN3_ENST00000446349.1_Missense_Mutation_p.D381N NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 557 negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 ACGATTTGATCCCCTTCGTTC 0.537000 29 81 0 0 0.013726 0 0 OR4B1 119765 broad.mit.edu 37 11 48239224 48239224 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:48239224G>A ENST00000309562.2 + 1 881 c.863G>A c.(862-864)aGg>aAg p.R288K NM_001005470.1 NP_001005470.1 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, member 1 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 TACACACTCAGGAATGCAGAG 0.438000 14 33 0 0 0.002450 0 0 OR51T1 401665 broad.mit.edu 37 11 4903640 4903640 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:4903640C>T ENST00000380378.1 + 1 592 c.592C>T c.(592-594)Cat>Tat p.H198Y MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.H171Y NM_001004759.1 NP_001004759.1 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, member 1 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TGTGTCTTTTCATGGGGGTCA 0.463000 28 113 0 0 0.004656 0 0 USP26 83844 broad.mit.edu 37 X 132159894 132159894 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:132159894C>T ENST00000511190.1 - 6 2824 c.2355G>A c.(2353-2355)agG>agA p.R785R USP26_ENST00000406273.1_Silent_p.R785R|USP26_ENST00000370832.1_Silent_p.R785R NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 785 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) GTAGGGAATTCCTGTTAGACT 0.398000 41 35 0 0 0.011902 0 0 CLCA2 9635 broad.mit.edu 37 1 86898095 86898095 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:86898095C>T ENST00000370565.4 + 5 790 c.628C>T c.(628-630)Cct>Tct p.P210S NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 210 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) TGAAAAAGGTCCTTGCCCCCA 0.348000 33 78 0 0 0.013726 0 0 MET 4233 broad.mit.edu 37 7 116411553 116411553 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:116411553G>A ENST00000397752.3 + 13 2932 c.2730_splice c.e13-1 p.W911_splice MET_ENST00000318493.6_Splice_Site_p.W929_splice NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 911 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) CATTTTTAGTGGAAGCAAGCA 0.368000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 10 62 0 0 0.006214 0 0 YTHDC2 64848 broad.mit.edu 37 5 112868723 112868723 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:112868723C>T ENST00000161863.4 + 5 1036 c.823C>T c.(823-825)Cag>Tag p.Q275* YTHDC2_ENST00000515883.1_Nonsense_Mutation_p.Q275* NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 275 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) AATTGGTTATCAGATCCGATT 0.383000 13 16 0 0 0.001855 0 0 EPHA4 2043 broad.mit.edu 37 2 222301175 222301175 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:222301175C>T ENST00000281821.2 - 13 2331 c.2290G>A c.(2290-2292)Gat>Aat p.D764N EPHA4_ENST00000409938.1_Missense_Mutation_p.D764N|EPHA4_ENST00000409854.1_Missense_Mutation_p.D764N|EPHA4_ENST00000392071.4_Missense_Mutation_p.D713N NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 764 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) ATGCCAAAATCAGACACTTTG 0.493000 11 34 0 0 0.010729 0 0 GPR132 29933 broad.mit.edu 37 14 105518133 105518133 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:105518133G>A ENST00000329797.3 - 4 1252 c.341C>T c.(340-342)gCc>gTc p.A114V GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000392585.2_Missense_Mutation_p.A105V|GPR132_ENST00000539291.2_Missense_Mutation_p.A114V NM_013345.2 NP_037477.1 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 114 response to stress integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 18 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) CACCTTGCAGGCCAGCAGGCC 0.607000 45 94 0 0 0.014410 0 0 OPN4 94233 broad.mit.edu 37 10 88418308 88418308 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:88418308C>T ENST00000372071.2 + 5 752 c.525C>T c.(523-525)atC>atT p.I175I OPN4_ENST00000241891.5_Silent_p.I164I NM_001030015.2 NP_001025186.1 Q9UHM6 OPN4_HUMAN opsin 4 164 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception integral to membrane|plasma membrane 11-cis retinal binding|G-protein coupled photoreceptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3) 18 TGACGGCCATCGCCCTGGACC 0.612000 10 28 0 0 0.008291 0 0 PAX2 5076 broad.mit.edu 37 10 102566342 102566342 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:102566342G>A ENST00000370296.2 + 7 1391 c.841G>A c.(841-843)Gag>Aag p.E281K PAX2_ENST00000361791.3_Missense_Mutation_p.E258K|PAX2_ENST00000556085.1_Missense_Mutation_p.E257K|PAX2_ENST00000355243.3_Missense_Mutation_p.E258K|PAX2_ENST00000428433.1_Missense_Mutation_p.E281K|PAX2_ENST00000553492.1_3'UTR Q02962 PAX2_HUMAN paired box 2 281 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) CCAGGCATCAGAGCACATCAA 0.532000 26 108 0 0 0.006320 0 0 SDE2 163859 broad.mit.edu 37 1 226183025 226183025 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:226183025G>A ENST00000366817.1 - 2 189 c.26C>T c.(25-27)aCa>aTa p.T9I SDE2_ENST00000272091.7_Silent_p.D60D SDE2 telomere maintenance homolog (S. pombe) GCTGCACTGTGTCACTGGTGT 0.388000 9 53 0 0 0.006214 0 0 CHGB 1114 broad.mit.edu 37 20 5903950 5903950 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:5903950G>A ENST00000378961.4 + 4 1364 c.1160G>A c.(1159-1161)aGa>aAa p.R387K NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 387 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 GAGGACAAGAGAAACTACCCC 0.537000 21 55 0 0 0.014323 0 0 TMEM59L 25789 broad.mit.edu 37 19 18724759 18724759 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:18724759C>T ENST00000600490.1 + 3 434 c.249C>T c.(247-249)ctC>ctT p.L83L TMEM59L_ENST00000262817.3_Silent_p.L83L Q9UK28 TM59L_HUMAN transmembrane protein 59-like 83 Golgi membrane|integral to membrane|membrane fraction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2) 13 GCTGCCGCCTCTTCTCCATCT 0.672000 26 48 0 0 0.005443 0 0 DNAH7 56171 broad.mit.edu 37 2 196659083 196659083 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:196659083G>A ENST00000312428.6 - 57 10795 c.10695C>T c.(10693-10695)ttC>ttT p.F3565F DNAH7_ENST00000409063.1_Silent_p.F48F NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3565 AAA 6 (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 AGCTGCCAAAGAACTCCGGAT 0.463000 40 46 0 0 0.014410 0 0 OR2T2 401992 broad.mit.edu 37 1 248616205 248616205 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:248616205T>C ENST00000342927.3 + 1 129 c.107T>C c.(106-108)tTt>tCt p.F36S NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 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) TTCTCCATCTTTGTGGTGGCT 0.527000 38 167 0 0 0.010771 0 0 SLIT3 6586 broad.mit.edu 37 5 168189647 168189647 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:168189647G>A ENST00000519560.1 - 15 1926 c.1507C>T c.(1507-1509)Ctc>Ttc p.L503F SLIT3_ENST00000404867.3_Missense_Mutation_p.L503F|SLIT3_ENST00000332966.8_Missense_Mutation_p.L503F NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 503 LRRNT 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) GGGCACACGAGGTCCATGAAG 0.617000 17 85 0 0 0.007413 0 0 SLC9A2 6549 broad.mit.edu 37 2 103317564 103317564 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:103317564T>C ENST00000233969.2 + 8 1764 c.1622T>C c.(1621-1623)cTt>cCt p.L541P SLC9A2_ENST00000469286.1_3'UTR NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 541 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 CTGCGGAAGCTTTTGATTCGG 0.299000 12 41 0 0 0.003163 0 0 SEMA6D 80031 broad.mit.edu 37 15 48063557 48063557 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:48063557C>T ENST00000316364.5 + 19 3236 c.2797C>T c.(2797-2799)Cct>Tct p.P933S SEMA6D_ENST00000537942.1_Missense_Mutation_p.P871S|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P858S|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P877S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P871S|SEMA6D_ENST00000536845.2_Missense_Mutation_p.P933S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P914S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P871S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P890S NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 933 axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) ATACTCCCCTCCTTCAACTCT 0.522000 11 82 0 0 0.010729 0 0 GNG3 2785 broad.mit.edu 37 11 62476263 62476263 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:62476263C>T ENST00000294117.5 + 3 472 c.213C>T c.(211-213)ttC>ttT p.F71F BSCL2_ENST00000405837.1_Intron|RP11-831H9.16_ENST00000403734.2_Intron|BSCL2_ENST00000433053.1_Intron NM_012202.4 NP_036334.1 P63215 GBG3_HUMAN guanine nucleotide binding protein (G protein), gamma 3 71 activation of MAPK activity|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission GTPase activity|signal transducer activity kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1) 5 AGAAGTTCTTCTGTGCTCTCC 0.567000 27 50 0 0 0.006320 0 0 LYN 4067 broad.mit.edu 37 8 56912099 56912099 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:56912099C>T ENST00000520220.2 + 12 1538 c.1264C>T c.(1264-1266)Ccc>Tcc p.P422S LYN_ENST00000519728.1_Missense_Mutation_p.P443S NM_001111097.2 NP_001104567.1 P07948 LYN_HUMAN v-yes-1 Yamaguchi sarcoma viral related oncogene homolog 443 Protein kinase. 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) TGGGAAAATTCCCTACCCAGG 0.373000 9 49 0 0 0.013537 0 0 SLC9C2 284525 broad.mit.edu 37 1 173567081 173567081 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:173567081C>T ENST00000367714.3 - 4 741 c.319G>A c.(319-321)Gat>Aat p.D107N SLC9C2_ENST00000536496.1_Missense_Mutation_p.D5N|RP3-436N22.3_ENST00000431459.1_RNA NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 107 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity AATTCTACATCCAAAGCAACC 0.308000 21 64 0 0 0.012319 0 0 CYP2S1 29785 broad.mit.edu 37 19 41704514 41704514 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:41704514C>T ENST00000310054.4 + 4 857 c.641C>T c.(640-642)tCc>tTc p.S214F CYP2S1_ENST00000542619.1_Intron NM_030622.6 NP_085125.1 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, polypeptide 1 214 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2) 14 GGAGTCAGCTCCCAGGGGGGT 0.612000 33 63 0 0 0.004878 0 0 DHX30 22907 broad.mit.edu 37 3 47887831 47887831 + Silent SNP G G C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:47887831G>C ENST00000446256.2 + 12 1724 c.1152G>C c.(1150-1152)cgG>cgC p.R384R DHX30_ENST00000348968.4_Silent_p.R395R|DHX30_ENST00000445061.1_Silent_p.R423R|DHX30_ENST00000457607.1_Silent_p.R451R NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 423 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) TGTGGCGGCGGCGAGGGCCGG 0.632000 38 49 0 0 0.004878 0 0 MUC16 94025 broad.mit.edu 37 19 9072320 9072320 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9072320G>A ENST00000397910.4 - 3 15329 c.15126C>T c.(15124-15126)tcC>tcT p.S5042S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5044 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 AGGACAGAAAGGAAGAGGGGG 0.478000 11 30 0 0 0.010729 0 0 FRAS1 80144 broad.mit.edu 37 4 79443817 79443817 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:79443817G>A ENST00000264895.6 + 69 11103 c.10663G>A c.(10663-10665)Gag>Aag p.E3555K NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3550 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GTTTGTGATGGAGCATCACAC 0.438000 4 6 0 0 0.000602 0 0 ALS2CR11 151254 broad.mit.edu 37 2 202469367 202469367 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:202469367C>T ENST00000439140.1 - 2 329 c.285G>A c.(283-285)caG>caA p.Q95Q ALS2CR11_ENST00000286195.3_Silent_p.Q95Q|ALS2CR11_ENST00000439802.1_Silent_p.Q95Q|ALS2CR11_ENST00000450242.1_Silent_p.Q95Q NM_001168221.1 NP_001161693.1 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 95 NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3) 33 TTGGCGTCTCCTGTGTTATTT 0.328000 33 63 0 0 0.007835 0 0 FAT3 120114 broad.mit.edu 37 11 92616345 92616345 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:92616345C>T ENST00000298047.6 + 23 12740 c.12723C>T c.(12721-12723)ttC>ttT p.F4241F FAT3_ENST00000533797.1_Silent_p.F576F|FAT3_ENST00000409404.2_Silent_p.F4241F|FAT3_ENST00000525166.1_Silent_p.F4091F Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4241 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CACCCTGCTTCCAGAGTGACT 0.662000 TCGA Ovarian(4;0.039) 6 197 0 0 0.001168 0 0 LRP2 4036 broad.mit.edu 37 2 169995847 169995847 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:169995847G>A ENST00000263816.3 - 74 13587 c.13302C>T c.(13300-13302)atC>atT p.I4434I NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4434 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) CAATTACGACGATCAAGAGGA 0.507000 18 23 0 0 0.006122 0 0 ASAH2 56624 broad.mit.edu 37 10 52003094 52003094 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:52003094G>A ENST00000395526.3 - 3 377 c.378C>T c.(376-378)tcC>tcT p.S126S ASAH2_ENST00000447815.1_Silent_p.S126S|ASAH2_ENST00000329428.6_Silent_p.S107S NM_019893.2 NP_063946.2 Q9NR71 ASAH2_HUMAN N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 126 apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity large_intestine(1)|lung(9)|urinary_tract(1) 11 CATTCTGGCCGGATTTGCCAT 0.493000 10 34 0 0 0.008291 0 0 ATP13A5 344905 broad.mit.edu 37 3 193025133 193025133 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:193025133C>T ENST00000342358.4 - 22 2668 c.2551G>A c.(2551-2553)Gga>Aga p.G851R ATP13A5_ENST00000495496.1_5'UTR|ATP13A5-AS1_ENST00000414634.1_RNA NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 851 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) TCGTTAGCTCCATCTCCACAC 0.453000 24 23 0 0 0.004656 0 0 ABCC9 10060 broad.mit.edu 37 12 22005137 22005137 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:22005137C>T ENST00000261200.4 - 22 2662 c.2663G>A c.(2662-2664)gGa>gAa p.G888E RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.G852E|ABCC9_ENST00000261201.4_Missense_Mutation_p.G888E NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 888 ABC transporter 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TAGGACACTTCCATCTTTCAT 0.368000 14 3 0 0 0.003163 0 0 MAMDC2 256691 broad.mit.edu 37 9 72833384 72833384 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:72833384G>A ENST00000377182.4 + 12 2400 c.1783G>A c.(1783-1785)Ggc>Agc p.G595S SMC5-AS1_ENST00000594708.1_RNA NM_153267.4 NP_694999.3 Q7Z304 MAMC2_HUMAN MAM domain containing 2 595 MAM 4. endoplasmic reticulum|membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 14 AGGGGGCACTGGCCTGCTGAG 0.498000 20 56 0 0 0.003330 0 0 VNN2 8875 broad.mit.edu 37 6 133078616 133078616 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:133078616G>A ENST00000326499.6 - 2 407 c.283C>T c.(283-285)Cct>Tct p.P95S VNN2_ENST00000525270.1_Missense_Mutation_p.P42S|VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525289.1_Missense_Mutation_p.P95S NM_004665.2 NP_004656.2 O95498 VNN2_HUMAN vanin 2 95 CN hydrolase. cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) TCCAGATAAGGGAAAACAGTT 0.403000 22 27 0 0 0.010504 0 0 REG1A 5967 broad.mit.edu 37 2 79349191 79349191 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:79349191G>A ENST00000233735.1 + 4 364 c.261G>A c.(259-261)ctG>ctA p.L87L NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 87 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 TGGCCTCACTGATTAAGGAGA 0.502000 19 54 0 0 0.008871 0 0 TRBV7-1 28597 broad.mit.edu 37 7 142032367 142032367 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:142032367G>A ENST00000547918.2 + 0 220 GCAGGGCCTGGAGTTTCCAAT 0.507000 8 9 0 0 0.003080 0 0 MYH11 4629 broad.mit.edu 37 16 15854489 15854489 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:15854489C>T ENST00000338282.6 - 11 1262 c.1156G>A c.(1156-1158)Gga>Aga p.G386R MYH11_ENST00000396324.3_Missense_Mutation_p.G393R|MYH11_ENST00000300036.5_Missense_Mutation_p.G386R|MYH11_ENST00000452625.2_Missense_Mutation_p.G393R|MYH11_ENST00000576790.1_Missense_Mutation_p.G386R NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 386 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 ACATTAATTCCCATGAGGTGG 0.443000 T CBFB AML 9 93 0 0 0.004482 0 0 PSG7 5676 broad.mit.edu 37 19 43430759 43430759 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:43430759C>T ENST00000446844.3 - 0 908 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) CATTTAGCCACCAAATGTAGG 0.478000 104 219 0 0 0.014410 0 0 DIRAS1 148252 broad.mit.edu 37 19 2717669 2717669 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:2717669G>A ENST00000323469.4 - 2 319 c.136C>T c.(136-138)Cag>Tag p.Q46* DIRAS1_ENST00000585334.1_Nonsense_Mutation_p.Q46* NM_145173.3 NP_660156.1 O95057 DIRA1_HUMAN DIRAS family, GTP-binding RAS-like 1 46 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity kidney(1)|lung(2)|ovary(2)|prostate(1) 6 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGATCACCTGCCGGTAGGTG 0.657000 15 25 0 0 0.004990 0 0 CHST8 64377 broad.mit.edu 37 19 34180092 34180092 + Translation_Start_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:34180092G>A ENST00000262622.3 + 0 683 CHST8_ENST00000604556.1_De_novo_Start_InFrame|CHST8_ENST00000434302.1_De_novo_Start_InFrame|CHST8_ENST00000438847.2_De_novo_Start_InFrame NM_022467.3 NP_071912.2 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) ATCTCGGCCTGATGGACGCCT 0.637000 6 17 0 0 0.001168 0 0 MUC17 140453 broad.mit.edu 37 7 100684188 100684188 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:100684188C>T ENST00000306151.4 + 3 9555 c.9491C>T c.(9490-9492)aCt>aTt p.T3164I NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3164 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) GAAGGAAGTACTCCATTAACA 0.493000 61 167 0 0 0.014410 0 0 CNTRL 11064 broad.mit.edu 37 9 123935993 123935993 + Missense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:123935993G>T ENST00000373855.1 + 42 6985 c.6725G>T c.(6724-6726)cGt>cTt p.R2242L CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Missense_Mutation_p.R2242L|CNTRL_ENST00000373850.1_Missense_Mutation_p.R1690L Q7Z7A1 CNTRL_HUMAN centriolin 2242 Sufficient for interaction with HOOK2. cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 GAGAAACTGCGTCACCGGGAA 0.468000 13 108 0.000151284 0.000163928 0.001855 1 0 SLC26A5 375611 broad.mit.edu 37 7 103018973 103018973 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:103018973C>T ENST00000306312.3 - 17 1966 c.1705G>A c.(1705-1707)Gga>Aga p.G569R SLC26A5_ENST00000393729.1_Missense_Mutation_p.G532R|SLC26A5_ENST00000393723.1_Missense_Mutation_p.G537R|SLC26A5_ENST00000432958.2_Missense_Mutation_p.G537R|SLC26A5_ENST00000393727.1_Missense_Mutation_p.G569R|SLC26A5_ENST00000393730.1_Missense_Mutation_p.G537R|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000339444.6_Missense_Mutation_p.G569R|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.G2R NM_198999.2 NP_945350.1 P58743 S26A5_HUMAN solute carrier family 26 (anion exchanger), member 5 569 STAS. regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 CTCCTTGCTCCCATGATGACT 0.493000 30 71 0 0 0.003271 0 0 ABCA7 10347 broad.mit.edu 37 19 1062201 1062201 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:1062201C>T ENST00000263094.6 + 42 5832 c.5601C>T c.(5599-5601)ctC>ctT p.L1867L ABCA7_ENST00000433129.1_Silent_p.L1867L|ABCA7_ENST00000435683.2_Silent_p.L1729L NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 1867 ABC transporter 2. phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGCGCACCTCAGCATGGGAT 0.682000 27 191 0 0 0.003954 0 0 ADAM19 8728 broad.mit.edu 37 5 156991385 156991385 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:156991385T>A ENST00000257527.4 - 3 325 c.247A>T c.(247-249)Aat>Tat p.N83Y ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000517905.1_Missense_Mutation_p.N83Y|ADAM19_ENST00000394020.1_Missense_Mutation_p.N85Y NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 83 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACTTACTCATTCTTCTCCAGG 0.468000 27 52 0 0 0.010818 0 0 OR4E2 26686 broad.mit.edu 37 14 22133687 22133687 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:22133687C>T ENST00000408935.1 + 1 391 c.391C>T c.(391-393)Cac>Tac p.H131Y NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) CACTCCACTCCACTACCCCAA 0.483000 50 67 0 0 0.014410 0 0 LACRT 90070 broad.mit.edu 37 12 55028623 55028623 + Translation_Start_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb 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 8 21 0 0 0.003080 0 0 NLRP10 338322 broad.mit.edu 37 11 7981881 7981881 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:7981881G>A ENST00000328600.2 - 2 1439 c.1278C>T c.(1276-1278)ttC>ttT p.F426F NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 426 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTTCAAATAGGAACCTCTGGT 0.542000 16 65 0 0 0.004007 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140712378 140712378 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140712378C>T ENST00000517417.1 + 1 2127 c.2127C>T c.(2125-2127)atC>atT p.I709I PCDHGA1_ENST00000378105.3_Silent_p.I709I NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTTCGTCATCGTGCTGCTGG 0.667000 18 53 0 0 0.006122 0 0 GJC1 10052 broad.mit.edu 37 17 42882180 42882180 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:42882180C>T ENST00000426548.1 - 3 1275 c.1006G>A c.(1006-1008)Gag>Aag p.E336K GJC1_ENST00000590758.1_Missense_Mutation_p.E336K|GJC1_ENST00000592524.1_Missense_Mutation_p.E336K|GJC1_ENST00000330514.4_Missense_Mutation_p.E336K NM_001080383.1|NM_005497.3 NP_001073852.1|NP_005488.2 P36383 CXG1_HUMAN gap junction protein, gamma 1, 45kDa 336 cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport connexon complex|integral to membrane NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1) 19 Prostate(33;0.0959) TGCAGAGCCTCCAGGTCAGCT 0.557000 63 27 0 0 0.014410 0 0 TJP1 7082 broad.mit.edu 37 15 30034858 30034858 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:30034858G>A ENST00000346128.6 - 9 1612 c.1138C>T c.(1138-1140)Cct>Tct p.P380S TJP1_ENST00000545208.2_Missense_Mutation_p.P380S|TJP1_ENST00000356107.6_Missense_Mutation_p.P380S|TJP1_ENST00000400011.2_Missense_Mutation_p.P384S NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 380 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) GGAAGAGAAGGTGTTTGTTTC 0.368000 20 61 0 0 0.010504 0 0 COL7A1 1294 broad.mit.edu 37 3 48629344 48629344 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:48629344C>T ENST00000328333.8 - 10 1451 c.1344G>A c.(1342-1344)tgG>tgA p.W448* COL7A1_ENST00000454817.1_Nonsense_Mutation_p.W448* NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 448 Fibronectin type-III 3.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TCTCACGCCGCCATTCCAACC 0.627000 28 72 0 0 0.009535 0 0 TTLL10 254173 broad.mit.edu 37 1 1115497 1115497 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:1115497G>A ENST00000379290.1 + 6 456 c.283G>A c.(283-285)Gga>Aga p.G95R TTLL10_ENST00000379288.3_Missense_Mutation_p.G22R|TTLL10_ENST00000379289.1_Missense_Mutation_p.G95R Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 95 protein modification process ATP binding|tubulin-tyrosine ligase activity haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CGACGCAGATGGACACTGTGG 0.687000 5 19 0 0 0.001168 0 0 C10orf118 55088 broad.mit.edu 37 10 115922739 115922739 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:115922739G>A ENST00000369287.3 - 2 555 c.289C>T c.(289-291)Cct>Tct p.P97S C10orf118_ENST00000369286.1_Missense_Mutation_p.P97S|C10orf118_ENST00000369285.3_Missense_Mutation_p.P97S NM_018017.2 NP_060487.2 Q7Z3E2 CJ118_HUMAN chromosome 10 open reading frame 118 97 NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2) 24 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0161)|all cancers(201;0.0397) TTTCCACTAGGAAAATTAGCT 0.348000 11 31 0 0 0.008291 0 0 SLC8A2 6543 broad.mit.edu 37 19 47969130 47969130 + Silent SNP G G A rs118059830 by1000genomes TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:47969130G>A ENST00000236877.6 - 2 926 c.531C>T c.(529-531)atC>atT p.I177I SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 177 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) TGCACACGGCGATGACCACAA 0.582000 8 22 0 0 0.003080 0 0 ADCY4 196883 broad.mit.edu 37 14 24791356 24791356 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:24791356C>T ENST00000310677.4 - 21 2615 c.2502G>A c.(2500-2502)atG>atA p.M834I ADCY4_ENST00000554068.2_Missense_Mutation_p.M834I|ADCY4_ENST00000418030.2_Missense_Mutation_p.M834I NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 834 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 cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) TCAGGTTCTCCATCGTCTCTG 0.622000 57 60 0 0 0.014410 0 0 RBAK 57786 broad.mit.edu 37 7 5103977 5103977 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:5103977C>T ENST00000396912.1 + 5 1409 c.890C>T c.(889-891)tCc>tTc p.S297F RBAK_ENST00000407184.1_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.S297F|RBAK_ENST00000396904.2_Intron NM_021163.3 NP_066986.1 Q9NYW8 RBAK_HUMAN RB-associated KRAB zinc finger 297 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 10 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) TGTGGGAAATCCTTCAGCCAA 0.403000 16 23 0 0 0.004990 0 0 LALBA 3906 broad.mit.edu 37 12 48962868 48962868 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:48962868C>T ENST00000549817.1 - 2 334 c.289G>A c.(289-291)Gac>Aac p.D97N LALBA_ENST00000301046.2_Missense_Mutation_p.D97N P00709 LALBA_HUMAN lactalbumin, alpha- 97 cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction extracellular space calcium ion binding|lactose synthase activity large_intestine(1)|stomach(2) 3 TACTCACTGTCACAGGAGATG 0.483000 35 25 0 0 0.006999 0 0 CORO2A 7464 broad.mit.edu 37 9 100888952 100888952 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:100888952G>A ENST00000343933.5 - 11 1582 c.1325C>T c.(1324-1326)tCc>tTc p.S442F CORO2A_ENST00000375077.4_Missense_Mutation_p.S442F NM_003389.3 NP_003380.3 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 442 actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding p.S442F(1) endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) CAACAGGGAGGAAGACCTCCA 0.547000 52 72 0 0 0.014410 0 0 MBD5 55777 broad.mit.edu 37 2 149247110 149247110 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:149247110G>A ENST00000407073.1 + 12 4207 c.3210G>A c.(3208-3210)caG>caA p.Q1070Q MBD5_ENST00000404807.1_Silent_p.Q1303Q NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1070 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) TTGGTCAACAGGTGAAGGATG 0.502000 17 53 0 0 0.004990 0 0 CNTN6 27255 broad.mit.edu 37 3 1415662 1415662 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:1415662C>T ENST00000446702.2 + 16 2627 c.2000C>T c.(1999-2001)cCt>cTt p.P667L CNTN6_ENST00000350110.2_Missense_Mutation_p.P667L|CNTN6_ENST00000539053.1_Missense_Mutation_p.P595L Q9UQ52 CNTN6_HUMAN contactin 6 667 Fibronectin type-III 1. 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) GGTTTGAGTCCTTGGGTGGAA 0.408000 17 28 0 0 0.007413 0 0 THBS4 7060 broad.mit.edu 37 5 79375868 79375868 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:79375868C>T ENST00000350881.2 + 20 2842 c.2652C>T c.(2650-2652)ttC>ttT p.F884F THBS4_ENST00000511733.1_Silent_p.F793F|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000504720.1_3'UTR NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 884 TSP C-terminal. endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) ACCGCTGGTTCCTACAGCACA 0.587000 8 7 0 0 0.004482 0 0 CFB 629 broad.mit.edu 37 6 31901545 31901545 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:31901545G>A ENST00000556679.1 + 3 470 c.415G>A c.(415-417)Gag>Aag p.E139K C2_ENST00000418949.2_Missense_Mutation_p.E201K|CFB_ENST00000477310.1_Intron|C2_ENST00000452323.2_Missense_Mutation_p.E78K|CFB_ENST00000456570.1_Missense_Mutation_p.E139K|C2_ENST00000299367.5_Missense_Mutation_p.E201K|C2_ENST00000469372.1_Silent_p.R32R|C2_ENST00000442278.2_Missense_Mutation_p.E69K P00751 CFAB_HUMAN complement factor B 215 Sushi 2. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 GAGTGGAACGGAGCCCATCTG 0.652000 76 162 0 0 0.014410 0 0 EPHA3 2042 broad.mit.edu 37 3 89259197 89259197 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:89259197G>A ENST00000336596.2 + 3 566 c.341G>A c.(340-342)gGa>gAa p.G114E EPHA3_ENST00000452448.2_Missense_Mutation_p.G114E|EPHA3_ENST00000494014.1_Missense_Mutation_p.G114E NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 114 extracellular region|integral to plasma membrane ATP binding p.G114E(1) NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TTGGTTTTAGGAACTTGCAAG 0.438000 TSP Lung(6;0.00050) 34 58 0 0 0.012213 0 0 SLC1A3 6507 broad.mit.edu 37 5 36677139 36677139 + Missense_Mutation SNP T T G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:36677139T>G ENST00000265113.4 + 6 1189 c.713T>G c.(712-714)gTg>gGg p.V238G CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Missense_Mutation_p.V238G NM_004172.4 NP_004163.3 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 3 238 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) CCAGGATCTGTGAATGGAGTC 0.507000 10 33 0 0 0.008291 0 0 C20orf26 26074 broad.mit.edu 37 20 20144724 20144724 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:20144724G>A ENST00000245957.5 + 11 1133 c.1057G>A c.(1057-1059)Gga>Aga p.G353R C20orf26_ENST00000377306.1_Missense_Mutation_p.G353R|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.G353R NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 353 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) CATCTCCACTGGATATGCACA 0.532000 21 47 0 0 0.004656 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130286860 130286860 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:130286860C>T ENST00000257359.6 - 3 1777 c.1071G>A c.(1069-1071)gcG>gcA p.A357A NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 357 Peptidase M12B. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) GGGTGTGGGCCGCCTGGAGCC 0.582000 8 115 0 0 0.006214 0 0 TBX15 6913 broad.mit.edu 37 1 119466167 119466167 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:119466167G>A ENST00000369429.3 - 5 762 c.753C>T c.(751-753)ttC>ttT p.F251F TBX15_ENST00000207157.3_Silent_p.F145F Q96SF7 TBX15_HUMAN T-box 15 251 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) GGTCACTGCTGAAGTCTTTGC 0.463000 26 55 0 0 0.005443 0 0 IRAK2 3656 broad.mit.edu 37 3 10276308 10276308 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:10276308C>T ENST00000256458.4 + 11 1528 c.1438C>T c.(1438-1440)Ctg>Ttg p.L480L NM_001570.3 NP_001561.3 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 480 Protein kinase. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1) 25 GGCTGCCTGCCTGTGCCTGCG 0.697000 27 42 0 0 0.003271 0 0 FER1L6 654463 broad.mit.edu 37 8 125061997 125061997 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:125061997G>A ENST00000522917.1 + 22 3080 c.2874_splice c.e22+1 p.Q958_splice FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Splice_Site_p.Q958_splice NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 958 integral to membrane 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) AACTGCTGCAGGTGAGTGAAC 0.522000 16 83 0 0 0.007413 0 0 CRTAM 56253 broad.mit.edu 37 11 122722430 122722430 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:122722430C>T ENST00000227348.4 + 3 270 c.223C>T c.(223-225)Cat>Tat p.H75Y NM_019604.2 NP_062550.2 O95727 CRTAM_HUMAN cytotoxic and regulatory T cell molecule 75 Ig-like V-type. cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target integral to membrane|plasma membrane receptor binding breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1) 19 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) CCAGCTTCTTCATCACTCGGC 0.438000 25 35 0 0 0.004656 0 0 EPS8L1 54869 broad.mit.edu 37 19 55591120 55591120 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:55591120G>A ENST00000201647.6 + 5 236 c.180G>A c.(178-180)agG>agA p.R60R EPS8L1_ENST00000540810.1_5'UTR|EPS8L1_ENST00000586329.1_Silent_p.R42R|EPS8L1_ENST00000592824.1_3'UTR NM_133180.2 NP_573441.2 Q8TE68 ES8L1_HUMAN EPS8-like 1 60 cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) ATGCCTCCAGGAAGTTGGCCG 0.622000 14 33 0 0 0.002450 0 0 ROBO2 6092 broad.mit.edu 37 3 77612365 77612365 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:77612365G>A ENST00000461745.1 + 11 2467 c.1567G>A c.(1567-1569)Ggg>Agg p.G523R ROBO2_ENST00000487694.3_Missense_Mutation_p.G539R|ROBO2_ENST00000332191.8_Missense_Mutation_p.G523R NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 523 Fibronectin type-III 1. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TGACCTGCCAGGGCCACCATC 0.448000 12 31 0 0 0.010729 0 0 COL4A6 1288 broad.mit.edu 37 X 107438346 107438346 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:107438346C>T ENST00000334504.7 - 15 1147 c.914G>A c.(913-915)gGt>gAt p.G305D COL4A6_ENST00000372216.4_Missense_Mutation_p.G306D|COL4A6_ENST00000545689.1_Missense_Mutation_p.G305D|COL4A6_ENST00000394872.2_Intron|COL4A6_ENST00000538570.1_Missense_Mutation_p.G305D NM_033641.2 NP_378667.1 Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 306 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 TCCTTCTGAACCCATGGGACC 0.403000 Alport syndrome with Diffuse Leiomyomatosis 39 20 0 0 0.014410 0 0 RNF152 220441 broad.mit.edu 37 18 59483292 59483292 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:59483292G>A ENST00000312828.3 - 2 1504 c.405C>T c.(403-405)atC>atT p.I135I NM_173557.2 NP_775828.1 Q8N8N0 RN152_HUMAN ring finger protein 152 135 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1) 17 Colorectal(73;0.186) GTTCAGCAGGGATGGTCACCA 0.692000 19 35 0 0 0.007413 0 0 AICDA 57379 broad.mit.edu 37 12 8757480 8757480 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:8757480C>T ENST00000229335.6 - 4 569 c.466G>A c.(466-468)Gaa>Aaa p.E156K AICDA_ENST00000537228.1_Missense_Mutation_p.E146K NM_020661.2 NP_065712.1 Q9GZX7 AICDA_HUMAN activation-induced cytidine deaminase 156 B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing cytoplasm cytidine deaminase activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1) 16 Lung SC(5;0.184) AAAGTTCTTTCGTGGTTTTCT 0.423000 44 33 0 0 0.014410 0 0 ZNF99 7652 broad.mit.edu 37 19 22939105 22939105 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:22939105C>T ENST00000397104.3 - 8 3015 c.3016G>A c.(3016-3018)Gga>Aga p.G1006R 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) GTTTTCCCTCCAGTATGAATT 0.373000 22 27 0 0 0.014323 0 0 TTN 7273 broad.mit.edu 37 2 179633554 179633554 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179633554C>T ENST00000589042.1 - 38 9233 c.9009G>A c.(9007-9009)aaG>aaA p.K3003K TTN_ENST00000460472.2_Silent_p.K2957K|TTN_ENST00000360870.5_Silent_p.K3003K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.K2957K|TTN_ENST00000342992.6_Silent_p.K3003K|TTN_ENST00000342175.6_Silent_p.K2957K|TTN_ENST00000591111.1_Silent_p.K3003K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2742 Ig-like 17. 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) CCACACCATTCTTTAACCATT 0.403000 12 42 0 0 0.010729 0 0 LCN9 392399 broad.mit.edu 37 9 138556077 138556077 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:138556077C>T ENST00000277526.3 + 2 166 c.166C>T c.(166-168)Ctg>Ttg p.L56L LCN9_ENST00000430290.2_3'UTR NM_001001676.1 NP_001001676.1 Q8WX39 LCN9_HUMAN lipocalin 9 56 extracellular region pheromone binding|transporter activity kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1) 6 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05) AAATGGAGACCTGAGGGTCTT 0.473000 22 43 0 0 0.002780 0 0 MALL 7851 broad.mit.edu 37 2 110849256 110849256 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb 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 17 63 0 0 0.004990 0 0 NBEAL1 65065 broad.mit.edu 37 2 203980784 203980784 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:203980784C>T ENST00000449802.1 + 17 2829 c.2496C>T c.(2494-2496)taC>taT p.Y832Y NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 832 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TTCTTTACTACACAGCAAAGG 0.383000 97 300 0 0 0.014410 0 0 GRM7 2917 broad.mit.edu 37 3 7620949 7620949 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:7620949G>A ENST00000486284.1 + 8 2630 c.2356G>A c.(2356-2358)Gaa>Aaa p.E786K GRM7_ENST00000357716.4_Missense_Mutation_p.E786K|GRM7_ENST00000403881.1_Missense_Mutation_p.E786K|GRM7_ENST00000389336.4_Missense_Mutation_p.E786K|GRM7_ENST00000402647.2_Missense_Mutation_p.E786K|GRM7_ENST00000458641.2_3'UTR NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 786 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GAATTTTAACGAAGCCAAGCC 0.433000 5 36 0 0 0.000602 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125850269 125850269 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:125850269G>A ENST00000393434.2 - 13 1930 c.1581C>T c.(1579-1581)atC>atT p.I527I ALDH1L1_ENST00000452905.2_Silent_p.I426I|ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000472186.1_Silent_p.I527I|ALDH1L1_ENST00000273450.3_Silent_p.I537I NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 527 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) GGAAGGTCTGGATGGACATGC 0.617000 50 88 0 0 0.014410 0 0 CASP6 839 broad.mit.edu 37 4 110617579 110617579 + Silent SNP G G C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:110617579G>C ENST00000265164.2 - 4 371 c.294C>G c.(292-294)ctC>ctG p.L98L CASP6_ENST00000505486.1_Intron|CASP6_ENST00000352981.3_Intron NM_001226.3 NP_001217.2 P55212 CASP6_HUMAN caspase 6, apoptosis-related cysteine peptidase 98 cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis cytosol|nucleoplasm cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 8 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000171) CATGAATTTTGAGCAGTAGTT 0.328000 16 14 0 0 0.004990 0 0 PRMT3 10196 broad.mit.edu 37 11 20486061 20486061 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:20486061C>T ENST00000331079.6 + 13 1533 c.1316C>T c.(1315-1317)aCc>aTc p.T439I PRMT3_ENST00000437750.2_Missense_Mutation_p.T377I NM_001145167.1|NM_005788.3 NP_001138639.1|NP_005779.1 O60678 ANM3_HUMAN protein arginine methyltransferase 3 439 zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1) 17 TCAGATTTTACCCTGAAAATC 0.363000 27 67 0 0 0.010818 0 0 OR2AK2 391191 broad.mit.edu 37 1 248129370 248129370 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:248129370G>A ENST00000366480.3 + 1 836 c.737G>A c.(736-738)gGa>gAa p.G246E OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) ATGAGCTCAGGAAAAGGACAG 0.478000 16 29 0 0 0.004990 0 0 GPNMB 10457 broad.mit.edu 37 7 23293046 23293046 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:23293046G>A ENST00000258733.4 + 2 486 c.191G>A c.(190-192)cGg>cAg p.R64Q GPNMB_ENST00000453162.2_Missense_Mutation_p.R64Q|GPNMB_ENST00000381990.2_Missense_Mutation_p.R64Q|GPNMB_ENST00000539136.1_Intron|GPNMB_ENST00000409458.3_Missense_Mutation_p.R64Q Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb 64 negative regulation of cell proliferation melanosome breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2) 41 GBM - Glioblastoma multiforme(13;0.154) GTGTGGAAGCGGGGAGACATG 0.418000 7 36 0 0 0.001984 0 0 SDSL 113675 broad.mit.edu 37 12 113865868 113865868 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:113865868C>T ENST00000403593.4 + 2 343 c.81C>T c.(79-81)tcC>tcT p.S27S SDSL_ENST00000345635.4_Silent_p.S27S Q96GA7 SDSL_HUMAN serine dehydratase-like 27 cellular amino acid metabolic process L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2) 15 Pyridoxal Phosphate(DB00114) GGGCGCTGTCCCAGGTGGCGG 0.607000 10 15 0 0 0.006214 0 0 RGS22 26166 broad.mit.edu 37 8 101083607 101083607 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:101083607G>A ENST00000360863.6 - 6 778 c.584C>T c.(583-585)tCa>tTa p.S195L RGS22_ENST00000523287.1_Intron|RGS22_ENST00000523437.1_Intron NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 195 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) CTCACCAAGTGATACATAGAA 0.338000 12 39 0 0 0.013537 0 0 SPATS2L 26010 broad.mit.edu 37 2 201284121 201284121 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:201284121C>T ENST00000409988.3 + 6 870 c.347C>T c.(346-348)tCg>tTg p.S116L SPATS2L_ENST00000451764.2_Missense_Mutation_p.S116L|SPATS2L_ENST00000409140.3_Missense_Mutation_p.S116L|SPATS2L_ENST00000409718.1_Missense_Mutation_p.S116L|SPATS2L_ENST00000409755.3_Missense_Mutation_p.S146L|SPATS2L_ENST00000358677.4_Missense_Mutation_p.S116L|SPATS2L_ENST00000360760.5_Missense_Mutation_p.S116L|SPATS2L_ENST00000409151.1_Missense_Mutation_p.S124L|SPATS2L_ENST00000409385.1_Missense_Mutation_p.S56L NM_001100422.1 NP_001093892.1 Q9NUQ6 SPS2L_HUMAN spermatogenesis associated, serine-rich 2-like 116 cytoplasm|nucleolus endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1) 10 AAGGACAGCTCGTCCACAGAT 0.542000 10 19 0 0 0.006214 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101834439 101834439 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:101834439C>T ENST00000506729.1 - 1 281 c.110G>A c.(109-111)gGa>gAa p.G37E SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G37E|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G37E|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G37E|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G37E Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 37 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) CTTCGGGGTTCCCTTGGCCCT 0.607000 27 102 0 0 0.008361 0 0 ASTN1 460 broad.mit.edu 37 1 176853578 176853578 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:176853578C>T ENST00000367654.2 - 19 3160 c.3147G>A c.(3145-3147)ctG>ctA p.L1049L ASTN1_ENST00000424564.2_Silent_p.L1041L|ASTN1_ENST00000367657.3_Silent_p.L1041L|ASTN1_ENST00000361833.2_Silent_p.L1041L O14525 ASTN1_HUMAN astrotactin 1 1049 Fibronectin type-III 1. cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GTTCCCACTCCAGGACCACAA 0.532000 24 36 0 0 0.002780 0 0 ACOXL 55289 broad.mit.edu 37 2 111691088 111691088 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:111691088G>A ENST00000389811.4 + 12 1152 c.928G>A c.(928-930)Gag>Aag p.E310K ACOXL_ENST00000439055.1_Missense_Mutation_p.E310K Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like 310 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 CCTCCTGGATGAGGATGTCTT 0.577000 14 43 0 0 0.001855 0 0 ABCC11 85320 broad.mit.edu 37 16 48239429 48239429 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:48239429G>A ENST00000394747.1 - 12 2049 c.1700C>T c.(1699-1701)tCg>tTg p.S567L ABCC11_ENST00000394748.1_Missense_Mutation_p.S567L|ABCC11_ENST00000353782.5_Missense_Mutation_p.S567L|ABCC11_ENST00000537808.1_Missense_Mutation_p.S567L|ABCC11_ENST00000356608.2_Missense_Mutation_p.S567L NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 567 ABC transporter 1. 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) CACCCCCACCGAGCCCTCGAG 0.627000 23 46 0 0 0.005443 0 0 MUC16 94025 broad.mit.edu 37 19 9073586 9073586 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9073586G>A ENST00000397910.4 - 3 14063 c.13860C>T c.(13858-13860)atC>atT p.I4620I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4622 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 TGGAGAGGATGATGTTTGACT 0.478000 16 39 0 0 0.003163 0 0 CARD11 84433 broad.mit.edu 37 7 2968236 2968236 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:2968236G>A ENST00000396946.4 - 13 2153 c.1750C>T c.(1750-1752)Cgc>Tgc p.R584C NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 584 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) ACCCACCTGCGATGGGGCGCG 0.662000 Mis DLBCL 19 51 0 0 0.002780 0 0 HAL 3034 broad.mit.edu 37 12 96384198 96384198 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:96384198C>T ENST00000261208.3 - 10 1196 c.828G>A c.(826-828)ccG>ccA p.P276P HAL_ENST00000541929.1_Silent_p.P68P|HAL_ENST00000538703.1_Silent_p.P276P|HAL_ENST00000551562.1_5'UTR NM_002108.3 NP_002099.1 P42357 HUTH_HUMAN histidine ammonia-lyase 276 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity p.P276P(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) AGCCACTCTTCGGAGACCACA 0.527000 51 30 0 0 0.014410 0 0 TRPM1 4308 broad.mit.edu 37 15 31342674 31342674 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:31342674C>T ENST00000542188.1 - 11 1739 c.1426G>A c.(1426-1428)Ggg>Agg p.G476R TRPM1_ENST00000256552.6_Missense_Mutation_p.G459R|TRPM1_ENST00000397795.2_Missense_Mutation_p.G437R NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 437 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) ttcactttccctttcttcttg 0.547000 10 16 0 0 0.006214 0 0 FAM194A 131831 broad.mit.edu 37 3 150387157 150387157 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:150387157G>A ENST00000295910.6 - 12 1477 c.1425C>T c.(1423-1425)ccC>ccT p.P475P FAM194A_ENST00000491361.1_Silent_p.P329P NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 475 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 CAGGGTTAGTGGGCATATCTT 0.463000 18 62 0 0 0.006122 0 0 PDE11A 50940 broad.mit.edu 37 2 178936771 178936771 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:178936771G>A ENST00000286063.5 - 1 711 c.394C>T c.(394-396)Cac>Tac p.H132Y PDE11A_ENST00000358450.4_Intron NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 132 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) CTGTTCACGTGGATGGCCTTG 0.617000 Primary Pigmented Nodular Adrenocortical Disease, Familial 20 66 0 0 0.014323 0 0 ROBO2 6092 broad.mit.edu 37 3 77571981 77571981 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:77571981G>A ENST00000461745.1 + 6 1762 c.862G>A c.(862-864)Gaa>Aaa p.E288K ROBO2_ENST00000487694.3_Missense_Mutation_p.E304K|ROBO2_ENST00000332191.8_Missense_Mutation_p.E288K NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 288 Ig-like C2-type 3. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GAGTACAGATGAAGGCACCTA 0.368000 24 51 0 0 0.002780 0 0 WFDC10B 280664 broad.mit.edu 37 20 44333195 44333195 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:44333195G>A ENST00000335769.2 - 2 107 c.80C>T c.(79-81)tCc>tTc p.S27F WFDC13_ENST00000305479.2_Silent_p.G67G|WFDC10B_ENST00000330523.5_5'UTR NM_172131.2 NP_742143.1 Q8IUB3 WF10B_HUMAN WAP four-disulfide core domain 10B 0 extracellular region peptidase inhibitor activity lung(2)|ovary(1)|stomach(1) 4 Myeloproliferative disorder(115;0.0122) CCTTCTGTGGGATAGTCTGTT 0.473000 26 49 0 0 0.004656 0 0 MTMR8 55613 broad.mit.edu 37 X 63444921 63444921 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:63444921C>T ENST00000453546.1 - 10 1824 c.1735G>A c.(1735-1737)Ggg>Agg p.G579R ASB12_ENST00000396130.2_Missense_Mutation_p.G195R|ASB12_ENST00000362002.2_Missense_Mutation_p.G204R Q96EF0 MTMR8_HUMAN myotubularin related protein 8 605 nuclear envelope protein tyrosine phosphatase activity p.0?(2) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 GGGTCTGCCCCGTGGAGCAAA 0.562000 9 4 0 0 0.008291 0 0 FMNL1 752 broad.mit.edu 37 17 43311019 43311019 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:43311019G>A ENST00000331495.3 + 5 742 c.406G>A c.(406-408)Gtg>Atg p.V136M FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Missense_Mutation_p.V136M NM_005892.3 NP_005883.2 O95466 FMNL_HUMAN formin-like 1 136 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 CCACAGGTGGGTGCAGGAGTT 0.627000 32 22 0 0 0.005524 0 0 LGSN 51557 broad.mit.edu 37 6 63995607 63995607 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:63995607C>T ENST00000370658.5 - 3 248 c.215G>A c.(214-216)aGa>aAa p.R72K LGSN_ENST00000370657.4_Missense_Mutation_p.R72K NM_001143940.1|NM_016571.2 NP_001137412.1|NP_057655.2 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 72 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) GTGTTTCATTCTAGAAGAGAG 0.438000 14 29 0 0 0.003163 0 0 CTAGE5 4253 broad.mit.edu 37 14 39790138 39790138 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:39790138C>T ENST00000553728.1 + 23 3368 c.3155C>T c.(3154-3156)tCc>tTc p.S1052F CTAGE5_ENST00000341502.5_Missense_Mutation_p.S517F|CTAGE5_ENST00000553352.1_Missense_Mutation_p.S488F|CTAGE5_ENST00000396158.2_Missense_Mutation_p.S522F|CTAGE5_ENST00000557038.1_Missense_Mutation_p.S437F|CTAGE5_ENST00000396165.4_Missense_Mutation_p.S488F|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.S488F|CTAGE5_ENST00000280083.3_Missense_Mutation_p.S517F|CTAGE5_ENST00000556148.1_Missense_Mutation_p.S442F|CTAGE5_ENST00000341749.3_Missense_Mutation_p.S505F|CTAGE5_ENST00000348007.3_Intron CCAGAGCATTCCCCATATGGT 0.418000 34 57 0 0 0.006999 0 0 COL5A1 1289 broad.mit.edu 37 9 137645726 137645726 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:137645726G>A ENST00000371817.3 + 15 2164 c.1750G>A c.(1750-1752)Gag>Aag p.E584K NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 584 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TTTGAAGGGCGAGCCGGGAGA 0.652000 9 56 0 0 0.008291 0 0 AMICA1 120425 broad.mit.edu 37 11 118074198 118074198 + Silent SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:118074198C>A ENST00000292067.7 - 5 1128 c.687G>T c.(685-687)ggG>ggT p.G229G AMICA1_ENST00000533261.1_Silent_p.G228G|AMICA1_ENST00000356289.5_Silent_p.G239G|AMICA1_ENST00000526620.1_Silent_p.G200G NM_153206.2 NP_694938.2 Q86YT9 JAML1_HUMAN adhesion molecule, interacts with CXADR antigen 1 239 Ig-like V-type 2. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2) 20 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) ACACCAGGTTCCCTAGGTGGA 0.527000 59 65 3.30712e-30 3.63523e-30 0.014410 1 0 NLRP12 91662 broad.mit.edu 37 19 54307219 54307219 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:54307219G>A ENST00000324134.6 - 6 2740 c.2572C>T c.(2572-2574)Cta>Tta p.L858L NLRP12_ENST00000391773.1_Silent_p.L859L|NLRP12_ENST00000391775.3_Silent_p.L858L|NLRP12_ENST00000351894.4_Silent_p.L858L|NLRP12_ENST00000345770.5_Silent_p.L859L|NLRP12_ENST00000354278.3_Silent_p.L858L|NLRP12_ENST00000391772.1_Silent_p.L859L|NLRP12_ENST00000535162.1_Silent_p.L858L NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 858 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) AAAGTCCGTAGTCTGCAGACT 0.483000 8 44 0 0 0.004482 0 0 BPIFB1 92747 broad.mit.edu 37 20 31890760 31890760 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:31890760C>T ENST00000253354.1 + 11 1181 c.1020C>T c.(1018-1020)atC>atT p.I340I BPIFB1_ENST00000464032.1_3'UTR NM_033197.2 NP_149974.2 Q8TDL5 LPLC1_HUMAN BPI fold containing family B, member 1 340 extracellular space lipid binding TCGTGAAGATCCTAACTCAGG 0.562000 12 47 0 0 0.001855 0 0 OSBPL6 114880 broad.mit.edu 37 2 179238682 179238682 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179238682C>T ENST00000190611.4 + 15 1837 c.1461C>T c.(1459-1461)tcC>tcT p.S487S OSBPL6_ENST00000409045.3_Silent_p.S456S|OSBPL6_ENST00000392505.2_Silent_p.S512S|OSBPL6_ENST00000315022.2_Silent_p.S491S|OSBPL6_ENST00000359685.3_Silent_p.S451S|OSBPL6_ENST00000357080.4_Silent_p.S420S|OSBPL6_ENST00000409631.1_Silent_p.S451S NM_032523.3 NP_115912.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 487 S -> P (in Ref. 4; BAC04248). lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) GCCGCCTCTCCATGTCAGAGT 0.488000 20 43 0 0 0.010504 0 0 ZNF600 162966 broad.mit.edu 37 19 53269440 53269440 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:53269440C>T ENST00000338230.3 - 3 1836 c.1569G>A c.(1567-1569)gaG>gaA p.E523E NM_198457.2 NP_940859.2 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 523 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) TGTAAGGTTTCTCACCACTAT 0.443000 12 112 0 0 0.001855 0 0 CHP2 63928 broad.mit.edu 37 16 23767248 23767248 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:23767248G>A ENST00000300113.2 + 3 644 c.221_splice c.e3+1 p.G74_splice NM_022097.2 NP_071380.1 O43745 CHP2_HUMAN calcineurin-like EF-hand protein 2 74 EF-hand 2. calcium ion binding central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1) 9 GBM - Glioblastoma multiforme(48;0.0144) TTCCCCGATGGGTGAGGCTTG 0.582000 14 23 0 0 0.003163 0 0 HYAL4 23553 broad.mit.edu 37 7 123516852 123516852 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:123516852G>A ENST00000223026.4 + 5 1727 c.1089G>A c.(1087-1089)ggG>ggA p.G363G HYAL4_ENST00000476325.1_Silent_p.G363G NM_012269.2 NP_036401.2 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 363 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 CTGATTTAGGGAGCTACATAG 0.458000 9 50 0 0 0.008291 0 0 OR5H2 79310 broad.mit.edu 37 3 98001750 98001750 + Missense_Mutation SNP G G A rs149978587 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:98001750G>A ENST00000355273.2 + 1 19 c.19G>A c.(19-21)Gaa>Aaa p.E7K RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 TGAGGACATGGAACAGGATAA 0.408000 27 74 0 0 0.006320 0 0 PGLYRP2 114770 broad.mit.edu 37 19 15580404 15580404 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:15580404G>A ENST00000292609.4 - 4 1809 c.1680C>T c.(1678-1680)ccC>ccT p.P560P PGLYRP2_ENST00000340880.4_Intron Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 0 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1) 28 TGTAGACGGAGGGGCGGCGGG 0.697000 4 8 0 0 0.009096 0 0 RNF148 378925 broad.mit.edu 37 7 122342631 122342631 + Missense_Mutation SNP C C G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:122342631C>G ENST00000434824.1 - 1 390 c.174G>C c.(172-174)gaG>gaC p.E58D CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|RNF148_ENST00000447240.1_Intron NM_198085.1 NP_932351.1 Q8N7C7 RN148_HUMAN ring finger protein 148 58 integral to membrane zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|lung(7) 16 ACACTCCACTCTCTCCTAATT 0.448000 8 26 0 0 0.004482 0 0 ZCCHC16 340595 broad.mit.edu 37 X 111698178 111698178 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:111698178C>T ENST00000340433.2 + 1 452 c.222C>T c.(220-222)ttC>ttT p.F74F NM_001004308.2 NP_001004308.2 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 74 nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 GCTCAGAGTTCCTCACTCAGG 0.483000 23 9 0 0 0.014323 0 0 ERBB4 2066 broad.mit.edu 37 2 212652858 212652858 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:212652858C>T ENST00000342788.4 - 4 758 c.448G>A c.(448-450)Gac>Aac p.D150N ERBB4_ENST00000436443.1_Missense_Mutation_p.D150N|ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000402597.1_Missense_Mutation_p.D150N NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 150 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) TTGTTCTGGTCTACATAGACT 0.348000 TSP Lung(8;0.080) 4 23 0 0 0.009096 0 0 OR2C3 81472 broad.mit.edu 37 1 247695031 247695031 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:247695031G>A ENST00000366487.3 - 2 1144 c.783C>T c.(781-783)ctC>ctT p.L261L GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) TGGCTGGCTGGAGATACATGA 0.522000 26 53 0 0 0.003954 0 0 C21orf62 56245 broad.mit.edu 37 21 34166294 34166294 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr21:34166294C>T ENST00000536776.1 - 2 579 c.439G>A c.(439-441)Gac>Aac p.D147N C21orf49_ENST00000453404.1_Intron|C21orf49_ENST00000382378.1_Intron|C21orf62_ENST00000490358.1_Missense_Mutation_p.D147N|C21orf49_ENST00000382377.3_Intron|C21orf62_ENST00000479548.1_Missense_Mutation_p.D147N|C21orf62_ENST00000487113.1_Missense_Mutation_p.D147N|C21orf49_ENST00000382375.4_Intron|C21orf49_ENST00000477513.1_Intron NM_001162495.2|NM_001162496.2|NM_019596.5 NP_001155967.2|NP_001155968.2|NP_062542.5 Q9NYP8 CU062_HUMAN chromosome 21 open reading frame 62 147 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 6 Myeloproliferative disorder(46;0.0255) GAGTCACTGTCCCCACCGCTA 0.502000 14 16 0 0 0.002450 0 0 OR2A25 392138 broad.mit.edu 37 7 143771368 143771368 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:143771368G>A ENST00000408898.2 + 1 94 c.56G>A c.(55-57)gGc>gAc p.G19D NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) TTTCCCATTGGCCCAAGGATT 0.498000 28 61 0 0 0.007291 0 0 RGS18 64407 broad.mit.edu 37 1 192153620 192153620 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:192153620G>A ENST00000367460.3 + 5 825 c.644G>A c.(643-645)cGa>cAa p.R215Q NM_130782.2 NP_570138.1 Q9NS28 RGS18_HUMAN regulator of G-protein signaling 18 215 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CTTAGGAGACGATCACGCTCA 0.358000 14 34 0 0 0.001855 0 0 NOL4 8715 broad.mit.edu 37 18 31537457 31537457 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:31537457C>T ENST00000261592.5 - 8 1558 c.1261G>A c.(1261-1263)Gaa>Aaa p.E421K NOL4_ENST00000269185.4_Intron|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000538587.1_Missense_Mutation_p.E347K|NOL4_ENST00000535475.1_Intron|NOL4_ENST00000535384.1_Missense_Mutation_p.E136K NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 421 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 TCCAAGTTTTCATCTACAAAC 0.478000 9 13 0 0 0.004482 0 0 TEX29 121793 broad.mit.edu 37 13 111980603 111980603 + Nonsense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:111980603C>A ENST00000283547.1 + 3 261 c.132C>A c.(130-132)tgC>tgA p.C44* NM_152324.1 NP_689537.1 Q8N6K0 CM016_HUMAN testis expressed 29 44 integral to membrane TCGGGTGCTGCTTCTACGAAG 0.577000 25 29 1.12875e-08 1.23196e-08 0.006320 1 0 GKN1 56287 broad.mit.edu 37 2 69201798 69201798 + Missense_Mutation SNP C C T rs141746794 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:69201798C>T ENST00000377938.2 + 1 94 c.31C>T c.(31-33)Cgt>Tgt p.R11C NM_019617.3 NP_062563.3 Q9NS71 GKN1_HUMAN gastrokine 1 11 digestion|positive regulation of cell division extracellular region p.R11C(1) breast(2)|large_intestine(4)|lung(5) 11 CCACTGCTTTCGTGAAGACAA 0.413000 16 38 0 0 0.007413 0 0 PSG11 5680 broad.mit.edu 37 19 43528851 43528851 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:43528851G>A ENST00000401740.1 - 2 525 c.422C>T c.(421-423)aCc>aTc p.T141I PSG11_ENST00000403486.1_Intron|PSG11_ENST00000306322.7_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.T141I Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 141 Ig-like V-type. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) ACGGTATAAGGTGAAGGTGAA 0.507000 49 91 0 0 0.014410 0 0 TAF1L 138474 broad.mit.edu 37 9 32631806 32631806 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:32631806C>T ENST00000242310.4 - 1 3861 c.3772G>A c.(3772-3774)Gaa>Aaa p.E1258K NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1258 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TTCTCCTTTTCCTGGTTCCGC 0.473000 10 45 0 0 0.006214 0 0 KRT18P55 284085 broad.mit.edu 37 17 26604187 26604187 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:26604187C>T ENST00000577198.1 - 0 774 NR_028334.1 GGCCCCTGGACCCCATGCTGC 0.617000 18 19 0 0 0.010504 0 0 DNAH5 1767 broad.mit.edu 37 5 13793772 13793772 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:13793772C>T ENST00000265104.4 - 49 8180 c.8076G>A c.(8074-8076)ggG>ggA p.G2692G NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2692 AAA 3 (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) TGGTGAACTCCCCAGGCTTCT 0.443000 Kartagener syndrome 14 71 0 0 0.001855 0 0 NR3C1 2908 broad.mit.edu 37 5 142779717 142779717 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:142779717C>T ENST00000343796.2 - 2 1681 c.688G>A c.(688-690)Gga>Aga p.G230R NR3C1_ENST00000394466.2_Missense_Mutation_p.G230R|NR3C1_ENST00000394464.2_Missense_Mutation_p.G230R|NR3C1_ENST00000504572.1_Missense_Mutation_p.G230R|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000415690.2_Missense_Mutation_p.G230R|NR3C1_ENST00000424646.2_Missense_Mutation_p.G230R|NR3C1_ENST00000231509.3_Missense_Mutation_p.G230R|NR3C1_ENST00000503201.1_Missense_Mutation_p.G230R NM_001018074.1|NM_001018075.1|NM_001018077.1 NP_001018084.1|NP_001018085.1|NP_001018087.1 P04150 GCR_HUMAN nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 230 Modulating. chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter mitochondrial matrix|nucleoplasm glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 35 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635) TCGTCTTCTCCCGCCAGAGGA 0.438000 16 50 0 0 0.003163 0 0 MUC16 94025 broad.mit.edu 37 19 9075414 9075414 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9075414G>A ENST00000397910.4 - 3 12235 c.12032C>T c.(12031-12033)tCc>tTc p.S4011F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4013 Ser-rich.|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 AGTCAAGAAGGAATTAGGCTC 0.478000 20 33 0 0 0.007413 0 0 OBSCN 84033 broad.mit.edu 37 1 228509610 228509610 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:228509610C>T ENST00000570156.2 + 66 18013 c.17939C>T c.(17938-17940)cCg>cTg p.P5980L OBSCN_ENST00000422127.1_Missense_Mutation_p.P5023L|OBSCN_ENST00000366707.4_Missense_Mutation_p.P2657L|OBSCN_ENST00000284548.11_Missense_Mutation_p.P5023L|OBSCN_ENST00000366709.4_Missense_Mutation_p.P2142L NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 5023 PH. 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) ACCAAAAGTCCGGCTGAAGTT 0.637000 21 33 0 0 0.008871 0 0 SLC46A3 283537 broad.mit.edu 37 13 29278211 29278211 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:29278211G>A ENST00000266943.6 - 5 1539 c.1170C>T c.(1168-1170)ttC>ttT p.F390F SLC46A3_ENST00000475385.1_5'UTR|SLC46A3_ENST00000380814.4_Silent_p.F390F NM_001135919.1|NM_181785.3 NP_001129391.1|NP_861450.1 Q7Z3Q1 S46A3_HUMAN solute carrier family 46, member 3 390 transmembrane transport integral to membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1) 15 Lung SC(185;0.0367) all cancers(112;0.159) GTGTTTCTAAGAAAGCAATAC 0.413000 26 36 0 0 0.009535 0 0 ATP2B2 491 broad.mit.edu 37 3 10381990 10381990 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:10381990G>A ENST00000397077.1 - 20 3613 c.3038C>T c.(3037-3039)cCa>cTa p.P1013L ATP2B2_ENST00000383800.4_Missense_Mutation_p.P1013L|ATP2B2_ENST00000360273.2_Missense_Mutation_p.P1058L|ATP2B2_ENST00000352432.4_Missense_Mutation_p.P1058L|ATP2B2_ENST00000343816.4_Missense_Mutation_p.P1044L Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 1058 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CAGCTGCAGTGGAGAGCAGCT 0.557000 25 42 0 0 0.008361 0 0 PLSCR5 389158 broad.mit.edu 37 3 146307599 146307599 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:146307599C>T ENST00000443512.1 - 6 1621 c.618G>A c.(616-618)gtG>gtA p.V206V PLSCR5-AS1_ENST00000473817.1_RNA|PLSCR5_ENST00000492200.1_Silent_p.V206V|PLSCR5_ENST00000482567.1_Silent_p.V194V NM_001085420.1 NP_001078889.1 A0PG75 PLS5_HUMAN phospholipid scramblase family, member 5 206 endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1) 12 TAATGGTTTTCACCTTTAGAA 0.303000 31 43 0 0 0.012213 0 0 HERPUD1 9709 broad.mit.edu 37 16 56976078 56976078 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:56976078C>T ENST00000439977.2 + 7 1137 c.940C>T c.(940-942)Ccg>Tcg p.P314S HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000344114.4_Missense_Mutation_p.P155S|HERPUD1_ENST00000379792.2_Missense_Mutation_p.P289S|HERPUD1_ENST00000300302.5_Missense_Mutation_p.P313S NM_001010989.1|NM_014685.2 NP_001010989.1|NP_055500.1 Q15011 HERP1_HUMAN homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 314 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 11 TAGACCGAGGCCGGTTCAGAA 0.483000 T ERG prostate 5 110 0 0 0.001984 0 0 HDC 3067 broad.mit.edu 37 15 50555459 50555459 + Silent SNP C C T rs143453549 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:50555459C>T ENST00000267845.3 - 2 579 c.177G>A c.(175-177)ggG>ggA p.G59G HDC_ENST00000543581.1_Silent_p.G59G NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 59 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) GTTCAATGTCCCCAAAGATGC 0.597000 17 93 0 0 0.014323 0 0 ZC3H12D 340152 broad.mit.edu 37 6 149773795 149773795 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:149773795C>T ENST00000389942.5 - 5 991 c.744G>A c.(742-744)agG>agA p.R248R ZC3H12D_ENST00000416573.2_Silent_p.R248R|ZC3H12D_ENST00000542614.1_Silent_p.R248R|ZC3H12D_ENST00000409806.3_Silent_p.R248R A2A288 ZC12D_HUMAN zinc finger CCCH-type containing 12D 248 cytoplasm|nucleus endonuclease activity|nucleic acid binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 6 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921) GCTTCGGCTTCCTGCTCAGGA 0.617000 9 12 0 0 0.004482 0 0 CXorf66 347487 broad.mit.edu 37 X 139038210 139038210 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:139038210G>A ENST00000370540.1 - 3 954 c.931C>T c.(931-933)Cgt>Tgt p.R311C NM_001013403.2 NP_001013421.1 Q5JRM2 CX066_HUMAN chromosome X open reading frame 66 311 integral to membrane breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1) 26 TCTAACTTACGAAAGGACCTG 0.368000 26 30 0 0 0.006320 0 0 RBM43 375287 broad.mit.edu 37 2 152112214 152112214 + Missense_Mutation SNP G G C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:152112214G>C ENST00000331426.5 - 2 198 c.47C>G c.(46-48)aCg>aGg p.T16R NM_198557.2 NP_940959.1 Q6ZSC3 RBM43_HUMAN RNA binding motif protein 43 16 RRM. nucleotide binding|RNA binding endometrium(2)|large_intestine(3)|lung(2)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.131) AACTACAACCGTTCTTTCAGG 0.383000 7 43 0 0 0.001984 0 0 SERPINB2 5055 broad.mit.edu 37 18 61569035 61569035 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:61569035G>A ENST00000457692.1 + 7 930 c.597G>A c.(595-597)gtG>gtA p.V199V SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000299502.4_Silent_p.V199V NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 199 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity p.V199E(1) NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) TGGTCCTGGTGAATGCTGTCT 0.378000 20 54 0 0 0.003330 0 0 OR1S1 219959 broad.mit.edu 37 11 57982705 57982705 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:57982705C>T ENST00000309433.6 + 1 489 c.489C>T c.(487-489)ttC>ttT p.F163F NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) TCTCATGGTTCCTCAGTAATA 0.483000 20 171 0 0 0.003330 0 0 TTN 7273 broad.mit.edu 37 2 179569031 179569031 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179569031G>A ENST00000589042.1 - 106 30290 c.30066C>T c.(30064-30066)ttC>ttT p.F10022F TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.F8778F|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.F9705F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9705 Glu-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) TGCCATTTCTGAACCATTCAG 0.433000 24 53 0 0 0.002780 0 0 SLC5A11 115584 broad.mit.edu 37 16 24873971 24873971 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:24873971G>A ENST00000347898.3 + 3 807 c.185G>A c.(184-186)gGa>gAa p.G62E SLC5A11_ENST00000545376.1_Missense_Mutation_p.G62E|SLC5A11_ENST00000424767.2_Missense_Mutation_p.G62E|SLC5A11_ENST00000449109.2_5'UTR|SLC5A11_ENST00000569071.1_5'UTR|SLC5A11_ENST00000568579.1_Missense_Mutation_p.G62E|SLC5A11_ENST00000565769.1_5'UTR|SLC5A11_ENST00000567758.1_Missense_Mutation_p.G62E|SLC5A11_ENST00000539472.1_5'UTR NM_052944.3 NP_443176.2 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 62 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) TTCCTGGCTGGAGGGGACATG 0.458000 13 30 0 0 0.003163 0 0 SEMA3E 9723 broad.mit.edu 37 7 82997202 82997202 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:82997202C>T ENST00000307792.3 - 17 2495 c.2028G>A c.(2026-2028)gaG>gaA p.E676E SEMA3E_ENST00000427262.1_Silent_p.E616E NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 676 axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) CCTCGACTTTCTCCTCTTCCA 0.483000 12 38 0 0 0.001855 0 0 IRAK2 3656 broad.mit.edu 37 3 10255055 10255055 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:10255055G>A ENST00000256458.4 + 5 783 c.693G>A c.(691-693)ggG>ggA p.G231G NM_001570.3 NP_001561.3 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 231 Protein kinase. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1) 25 ACAGGCACGGGAAGCCATTCG 0.557000 21 41 0 0 0.008871 0 0 BDH1 622 broad.mit.edu 37 3 197238844 197238844 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:197238844C>T ENST00000392379.1 - 8 1355 c.954G>A c.(952-954)atG>atA p.M318I BDH1_ENST00000392378.2_Missense_Mutation_p.M318I|BDH1_ENST00000358186.2_Missense_Mutation_p.M318I|BDH1_ENST00000441275.1_Missense_Mutation_p.M231I NM_203314.2 NP_976059.1 Q02338 BDH_HUMAN 3-hydroxybutyrate dehydrogenase, type 1 318 cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix 3-hydroxybutyrate dehydrogenase activity endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437) Lung NSC(153;0.118) Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06) GBM - Glioblastoma multiforme(93;0.0977) NADH(DB00157) AGTAGTAGTCCATGGGGTGGT 0.592000 14 90 0 0 0.001855 0 0 MYO6 4646 broad.mit.edu 37 6 76576731 76576731 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:76576731G>A ENST00000369981.3 + 18 2132 c.1853G>A c.(1852-1854)cGg>cAg p.R618Q MYO6_ENST00000369985.4_Missense_Mutation_p.R618Q|MYO6_ENST00000369977.3_Missense_Mutation_p.R618Q|MYO6_ENST00000369975.1_Missense_Mutation_p.R618Q Q9UM54 MYO6_HUMAN myosin VI 618 Myosin head-like. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) AAGTTTATACGGGAATTATTT 0.318000 6 35 0 0 0.001168 0 0 ST8SIA5 29906 broad.mit.edu 37 18 44268761 44268761 + Missense_Mutation SNP C C G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:44268761C>G ENST00000315087.7 - 4 1093 c.433G>C c.(433-435)Gag>Cag p.E145Q ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.E114Q|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.E181Q NM_013305.4 NP_037437.2 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 145 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 22 CGGAAGATCTCCTGGTTGATG 0.597000 29 51 0 0 0.012213 0 0 KLF17 128209 broad.mit.edu 37 1 44595255 44595255 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:44595255G>A ENST00000372299.3 + 2 370 c.312G>A c.(310-312)gcG>gcA p.A104A KLF17_ENST00000476802.1_Intron NM_173484.3 NP_775755.3 Q5JT82 KLF17_HUMAN Kruppel-like factor 17 104 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) GCCCCCAAGCGACTCTCACTC 0.557000 52 73 0 0 0.014410 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213415276 213415276 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:213415276C>T ENST00000366960.3 + 11 2607 c.2457C>T c.(2455-2457)ttC>ttT p.F819F RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Silent_p.F607F|RPS6KC1_ENST00000543354.1_Silent_p.F522F|RPS6KC1_ENST00000366959.3_Silent_p.F807F NM_012424.3 NP_036556.2 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1 819 Protein kinase 2. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) AAAGCTTATTCCGTATTTGTA 0.393000 25 51 0 0 0.006320 0 0 CDX1 1044 broad.mit.edu 37 5 149563133 149563133 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:149563133G>A ENST00000231656.8 + 3 770 c.688G>A c.(688-690)Gac>Aac p.D230N NM_001804.2 NP_001795.2 P47902 CDX1_HUMAN caudal type homeobox 1 230 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|lung(1)|ovary(1) 5 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GATGGCCCACGACATCACGGC 0.617000 6 17 0 0 0.004482 0 0 DCST2 127579 broad.mit.edu 37 1 155005935 155005935 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:155005935G>A ENST00000368424.3 - 1 301 c.243C>T c.(241-243)ctC>ctT p.L81L DCST2_ENST00000295536.5_Silent_p.L81L NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 81 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GCAGCAGCAGGAGGACAGTGG 0.657000 20 39 0 0 0.008871 0 0 BMP4 652 broad.mit.edu 37 14 54417562 54417562 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:54417562G>A ENST00000245451.4 - 4 808 c.415C>T c.(415-417)Cgt>Tgt p.R139C BMP4_ENST00000558984.1_Missense_Mutation_p.R139C|BMP4_ENST00000559087.1_Missense_Mutation_p.R139C|BMP4_ENST00000417573.1_Missense_Mutation_p.R139C NM_001202.3 NP_001193.2 P12644 BMP4_HUMAN bone morphogenetic protein 4 139 activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway extracellular space|proteinaceous extracellular matrix BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1) 19 AAGAGGAAACGAAAAGCAGAG 0.498000 17 22 0 0 0.007413 0 0 NOTCH3 4854 broad.mit.edu 37 19 15276216 15276216 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:15276216G>A ENST00000263388.2 - 31 5853 c.5778C>T c.(5776-5778)atC>atT p.I1926I NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1926 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CATGGCTGGCGATGAGCTCTT 0.582000 12 47 0 0 0.013537 0 0 SNURF 8926 broad.mit.edu 37 15 25207265 25207265 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:25207265C>T ENST00000338094.6 + 2 80 c.19C>T c.(19-21)Cgc>Tgc p.R7C SNRPN_ENST00000390687.4_5'UTR|SNRPN_ENST00000400097.1_5'UTR|SNRPN_ENST00000554227.2_5'UTR|SNURF_ENST00000577949.1_Missense_Mutation_p.R7C|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000346403.6_5'UTR|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000400100.1_5'UTR|SNURF_ENST00000338327.4_Missense_Mutation_p.R7C NM_003097.3|NM_005678.3 NP_003088.1|NP_005669.2 SNRPN upstream reading frame p.R7G(1) breast(2)|large_intestine(2)|lung(1) 5 all_cancers(20;1.4e-21)|Breast(32;0.000625) all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142) TTTCAGGGATCGCTTACACCT 0.403000 10 25 0 0 0.008291 0 0 ACVR2A 92 broad.mit.edu 37 2 148653910 148653910 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:148653910C>T ENST00000241416.7 + 2 732 c.96C>T c.(94-96)ttC>ttT p.F32F ACVR2A_ENST00000535787.1_Intron|ACVR2A_ENST00000404590.1_Silent_p.F32F NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA 32 activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) AGTGTCTTTTCTTTAATGCTA 0.343000 14 52 0 0 0.004990 0 0 ACE 1636 broad.mit.edu 37 17 61564035 61564035 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:61564035G>A ENST00000577647.1 + 3 499 c.454G>A c.(454-456)Gac>Aac p.D152N ACE_ENST00000428043.1_Missense_Mutation_p.D726N|ACE_ENST00000290866.4_Missense_Mutation_p.D726N|ACE_ENST00000413513.3_Missense_Mutation_p.D152N|ACE_ENST00000421982.2_Missense_Mutation_p.D36N|ACE_ENST00000290863.6_Missense_Mutation_p.D152N|ACE_ENST00000490216.2_Missense_Mutation_p.D152N P12821 ACE_HUMAN angiotensin I converting enzyme 726 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GAAGGTTCAGGACCTAGAACG 0.567000 23 11 0 0 0.004656 0 0 PDE3B 5140 broad.mit.edu 37 11 14891083 14891083 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:14891083G>A ENST00000282096.4 + 16 3569 c.3216G>A c.(3214-3216)tgG>tgA p.W1072* PDE3B_ENST00000455098.2_Nonsense_Mutation_p.W1021* NM_000922.3 NP_000913.2 Q13370 PDE3B_HUMAN phosphodiesterase 3B, cGMP-inhibited 1072 Catalytic (By similarity). cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 ACAAGATATGGAAGGAAATCG 0.383000 19 42 0 0 0.008871 0 0 SLIT3 6586 broad.mit.edu 37 5 168151456 168151456 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:168151456G>A ENST00000519560.1 - 21 2723 c.2304C>T c.(2302-2304)ccC>ccT p.P768P SLIT3_ENST00000404867.3_Silent_p.P768P|SLIT3_ENST00000332966.8_Silent_p.P768P NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 768 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) ACAGCTCTCTGGGCACGGCTG 0.512000 14 31 0 0 0.004990 0 0 TTN 7273 broad.mit.edu 37 2 179466861 179466861 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179466861G>A ENST00000589042.1 - 284 55361 c.55137C>T c.(55135-55137)ttC>ttT p.F18379F TTN_ENST00000460472.2_Silent_p.F9314F|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Silent_p.F9439F|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.F15811F|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.F9506F|TTN_ENST00000591111.1_Silent_p.F16738F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16738 Fibronectin type-III 33. 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) CAATGTCAATGAAAACTTCTG 0.378000 16 50 0 0 0.004007 0 0 PRB1 5542 broad.mit.edu 37 12 11506862 11506862 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:11506862C>T ENST00000500254.2 - 3 212 c.175G>A c.(175-177)Gga>Aga p.G59R PRB1_ENST00000545626.1_Missense_Mutation_p.G59R|PRB1_ENST00000546254.1_Missense_Mutation_p.G59R NM_005039.3|NM_199353.2 NP_005030.2|NP_955385.1 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 242 15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) GGGGGTGGTCCTTGTGGCTTT 0.597000 118 134 0 0 0.014410 0 0 UBC 7316 broad.mit.edu 37 12 125396452 125396452 + Silent SNP G G A rs71458872 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:125396452G>A ENST00000536769.1 - 1 3442 c.1866C>T c.(1864-1866)acC>acT p.T622T UBC_ENST00000546120.1_Silent_p.T546T|UBC_ENST00000339647.5_Silent_p.T622T|UBC_ENST00000538617.1_Silent_p.T242T P0CG48 UBC_HUMAN ubiquitin C 622 Ubiquitin-like 9. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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 ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|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|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) CCACCTCGAGGGTGATGGTCT 0.527000 8 112 0 0 0.008291 0 0 ARHGEF37 389337 broad.mit.edu 37 5 149008485 149008485 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:149008485G>A ENST00000333677.6 + 12 1937 c.1774G>A c.(1774-1776)Gag>Aag p.E592K NM_001001669.2 NP_001001669.2 A1IGU5 ARH37_HUMAN Rho guanine nucleotide exchange factor (GEF) 37 592 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3) 17 TCTAACACCGGAGCCCAGCCC 0.612000 5 22 0 0 0.001168 0 0 TMEM37 140738 broad.mit.edu 37 2 120194518 120194518 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:120194518C>T ENST00000306406.4 + 2 110 c.75C>T c.(73-75)ttC>ttT p.F25F TMEM37_ENST00000409826.1_Silent_p.F37F|TMEM37_ENST00000465296.1_3'UTR NM_183240.2 NP_899063.2 Q8WXS4 CCGL_HUMAN transmembrane protein 37 25 integral to membrane calcium channel activity|voltage-gated ion channel activity p.F25F(1) breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 TTGAATCCTTCATCCGGACCC 0.617000 22 45 0 0 0.014323 0 0 TCF23 150921 broad.mit.edu 37 2 27373152 27373152 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:27373152C>T ENST00000296096.5 + 2 514 c.384C>T c.(382-384)ctC>ctT p.L128L NM_175769.2 NP_786951.1 Q7RTU1 TCF23_HUMAN transcription factor 23 128 Helix-loop-helix motif. cell differentiation|muscle organ development|regulation of transcription, DNA-dependent nucleus large_intestine(2)|lung(11)|prostate(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TAGCCCACCTCACCCGCACAC 0.657000 29 138 0 0 0.008361 0 0 DSC1 1823 broad.mit.edu 37 18 28710797 28710797 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:28710797G>A ENST00000257197.3 - 16 2753 c.2492C>T c.(2491-2493)tCc>tTc p.S831F RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Intron NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 0 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TCCTCTAATGGATTCCTATAT 0.249000 7 34 0 0 0.001984 0 0 CD2 914 broad.mit.edu 37 1 117307147 117307147 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:117307147G>A ENST00000369478.3 + 4 763 c.655G>A c.(655-657)Gga>Aga p.G219R NM_001767.3 NP_001758.2 P06729 CD2_HUMAN CD2 molecule 219 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) CATATGTGGAGGAGGCAGCCT 0.493000 24 39 0 0 0.008361 0 0 MROH9 80133 broad.mit.edu 37 1 170964596 170964596 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:170964596C>T ENST00000367759.4 + 13 1415 c.1261C>T c.(1261-1263)Ccc>Tcc p.P421S MROH9_ENST00000367758.3_Missense_Mutation_p.P421S NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 p.P421S(2) CCAGTATTTCCCCCAGCTCTT 0.473000 28 52 0 0 0.008361 0 0 HS6ST3 266722 broad.mit.edu 37 13 97485152 97485152 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:97485152C>T ENST00000376705.2 + 2 1140 c.1116C>T c.(1114-1116)ttC>ttT p.F372F NM_153456.3 NP_703157.2 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 372 integral to membrane sulfotransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_neural(89;0.0878)|Medulloblastoma(90;0.163) ACCTCAAGTTCATCTCCCCCT 0.493000 4 50 0 0 0.000602 0 0 SYT16 83851 broad.mit.edu 37 14 62551016 62551016 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:62551016C>T ENST00000430451.2 + 5 1734 c.1537C>T c.(1537-1539)Ctc>Ttc p.L513F NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 513 C2 2. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GTTGGTGGGGCTCTCGTACAA 0.552000 12 63 0 0 0.013537 0 0 OR10C1 442194 broad.mit.edu 37 6 29408389 29408389 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:29408389C>T ENST00000444197.2 + 1 1307 c.597C>T c.(595-597)atC>atT p.I199I OR11A1_ENST00000377149.1_Intron NM_013941.3 NP_039229.3 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene) 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TGCAGATTATCCTGGCAACAG 0.577000 48 109 0 0 0.014410 0 0 SLIT3 6586 broad.mit.edu 37 5 168678442 168678442 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:168678442G>A ENST00000519560.1 - 2 638 c.219C>T c.(217-219)atC>atT p.I73I SLIT3_ENST00000404867.3_Silent_p.I73I|SLIT3_ENST00000521130.1_5'UTR|SLIT3_ENST00000332966.8_Silent_p.I73I NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 73 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) TGATCCTGGTGATATTATTTC 0.438000 10 51 0 0 0.010729 0 0 DOCK4 9732 broad.mit.edu 37 7 111379197 111379197 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:111379197G>A ENST00000428084.1 - 49 5497 c.5225C>T c.(5224-5226)cCt>cTt p.P1742L DOCK4_ENST00000494651.2_Missense_Mutation_p.P616L|DOCK4_ENST00000437633.1_Missense_Mutation_p.P1733L Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1733 Ser-rich. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) TACCTGCGAAGGCTCCACAGG 0.468000 27 46 0 0 0.008361 0 0 NRXN2 9379 broad.mit.edu 37 11 64374929 64374929 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:64374929C>T ENST00000265459.6 - 23 5339 c.4878G>A c.(4876-4878)gtG>gtA p.V1626V NRXN2_ENST00000377559.3_Silent_p.V1556V|NRXN2_ENST00000377551.1_Silent_p.V1626V|NRXN2_ENST00000409571.1_Silent_p.V1619V|NRXN2_ENST00000301894.2_Silent_p.V580V NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 1626 cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 GGATCACCTCCACTGCGCCCG 0.711000 8 29 0 0 0.006214 0 0 SERPINA5 5104 broad.mit.edu 37 14 95053780 95053780 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:95053780G>A ENST00000329597.7 + 3 291 c.81G>A c.(79-81)atG>atA p.M27I SERPINA5_ENST00000554276.1_Missense_Mutation_p.M27I|SERPINA5_ENST00000554866.1_Missense_Mutation_p.M27I|SERPINA5_ENST00000553780.1_Missense_Mutation_p.M27I NM_000624.4 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 27 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity p.M27I(1) endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) CCCGGGAGATGAAGAAGAGAG 0.612000 29 42 0 0 0.007291 0 0 ZNF609 23060 broad.mit.edu 37 15 64967027 64967027 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:64967027C>T ENST00000326648.3 + 4 2102 c.1974C>T c.(1972-1974)ccC>ccT p.P658P NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 658 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CAGCCCGTCCCATTGCCCCTG 0.488000 11 39 0 0 0.013537 0 0 MSR1 4481 broad.mit.edu 37 8 16021701 16021701 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:16021701T>A ENST00000350896.3 - 5 887 c.690A>T c.(688-690)aaA>aaT p.K230N MSR1_ENST00000262101.5_Missense_Mutation_p.K230N|MSR1_ENST00000445506.2_Missense_Mutation_p.K248N|MSR1_ENST00000536385.1_Missense_Mutation_p.K4N|MSR1_ENST00000355282.2_Missense_Mutation_p.K230N|MSR1_ENST00000381998.4_Missense_Mutation_p.K230N NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 230 cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CTTGTTCTTCTTTCATAGCCA 0.353000 11 28 0 0 0.010729 0 0 GTF2A1 2957 broad.mit.edu 37 14 81658868 81658868 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:81658868C>T ENST00000553612.1 - 7 1331 c.928G>A c.(928-930)Gaa>Aaa p.E310K GTF2A1_ENST00000434192.2_Missense_Mutation_p.E271K NM_015859.3 NP_056943.1 P52655 TF2AA_HUMAN general transcription factor IIA, 1, 19/37kDa 310 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|transcription factor TFIIA complex DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 12 BRCA - Breast invasive adenocarcinoma(234;0.0287) CTTActtcttccacctgccca 0.343000 11 97 0 0 0.010729 0 0 SYT6 148281 broad.mit.edu 37 1 114640423 114640423 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:114640423C>T ENST00000393296.1 - 6 1518 c.1441G>A c.(1441-1443)Gag>Aag p.E481K SYT6_ENST00000369547.1_Missense_Mutation_p.E396K Q5T7P8 SYT6_HUMAN synaptotagmin VI 481 acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity p.E396K(1) central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GCCAGCATCTCGTTCCAGTGG 0.572000 28 46 0 0 0.009535 0 0 TNFRSF11A 8792 broad.mit.edu 37 18 60017110 60017110 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:60017110G>A ENST00000586569.1 + 3 261 c.223G>A c.(223-225)Gaa>Aaa p.E75K TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.E75K NM_003839.2 NP_003830.1 Q9Y6Q6 TNR11_HUMAN tumor necrosis factor receptor superfamily, member 11a, NFKB activator 75 adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|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 JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide external side of plasma membrane|integral to membrane metal ion binding|tumor necrosis factor receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1) 29 Colorectal(73;0.188) TGGCCCGGATGAATACTTGGA 0.428000 28 87 0 0 0.006320 0 0 SYNE2 23224 broad.mit.edu 37 14 64683061 64683061 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:64683061C>T ENST00000357395.3 + 108 19728 c.8584C>T c.(8584-8586)Cca>Tca p.P2862S SYNE2_ENST00000554805.1_Missense_Mutation_p.P260S|SYNE2_ENST00000344113.4_Missense_Mutation_p.P6477S|SYNE2_ENST00000555002.1_Missense_Mutation_p.P3134S|SYNE2_ENST00000555022.1_Missense_Mutation_p.P355S|SYNE2_ENST00000458046.2_Missense_Mutation_p.P134S|SYNE2_ENST00000394768.2_Missense_Mutation_p.P2862S|SYNE2_ENST00000441438.2_Missense_Mutation_p.P8S|SYNE2_ENST00000358025.3_Missense_Mutation_p.P6500S|SYNE2_ENST00000554584.1_Missense_Mutation_p.P6419S|ESR2_ENST00000542956.1_Intron Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6477 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) CAGGAATGTTCCACCTGTTCC 0.493000 11 52 0 0 0.013537 0 0 S1PR1 1901 broad.mit.edu 37 1 101705422 101705422 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:101705422G>A ENST00000305352.6 + 2 1257 c.882G>A c.(880-882)gaG>gaA p.E294E NM_001400.4 NP_001391.2 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 294 cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 43 TCAGAGCGGAGTACTTCCTGG 0.562000 68 158 0 0 0.014410 0 0 TMEM215 401498 broad.mit.edu 37 9 32784491 32784491 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:32784491G>A ENST00000342743.5 + 2 675 c.310G>A c.(310-312)Ggc>Agc p.G104S NM_212558.2 NP_997723.2 Q68D42 TM215_HUMAN transmembrane protein 215 104 integral to membrane endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2) 12 CCTAGAATCCGGCAAGGGGAG 0.602000 17 34 0 0 0.006122 0 0 MYLK2 85366 broad.mit.edu 37 20 30419644 30419644 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:30419644C>T ENST00000375994.2 + 10 1836 c.1563C>T c.(1561-1563)atC>atT p.I521I MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Silent_p.I521I Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 521 Protein kinase. cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CCAACCTCATCGTCAAGGACC 0.532000 21 33 0 0 0.014323 0 0 LAMA1 284217 broad.mit.edu 37 18 7044747 7044747 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:7044747G>A ENST00000389658.3 - 7 1043 c.950C>T c.(949-951)aCc>aTc p.T317I NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 317 Laminin EGF-like 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGAGGACACGGTTCCCGGCCT 0.473000 22 60 0 0 0.003330 0 0 ADD2 119 broad.mit.edu 37 2 70901819 70901819 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:70901819C>T ENST00000264436.3 - 14 2176 c.1732G>A c.(1732-1734)Gaa>Aaa p.E578K ADD2_ENST00000407644.2_Missense_Mutation_p.E578K|ADD2_ENST00000355733.3_Missense_Mutation_p.E578K NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) 578 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 CCATCAAGTTCTAGTTTCTTC 0.542000 11 51 0 0 0.013537 0 0 LRRC32 2615 broad.mit.edu 37 11 76370955 76370955 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:76370955G>A ENST00000407242.2 - 3 1924 c.1682C>T c.(1681-1683)aCc>aTc p.T561I AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.T561I|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.T561I NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 561 integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 CCGGAGGCTGGTCTCCAGGCC 0.667000 18 20 0 0 0.004990 0 0 ZNF208 7757 broad.mit.edu 37 19 22154154 22154154 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:22154154C>T ENST00000397126.4 - 4 3830 c.3682G>A c.(3682-3684)Gaa>Aaa p.E1228K ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) CCACATTCTTCACATTTGTAG 0.393000 7 32 0 0 0.003080 0 0 CLCA1 1179 broad.mit.edu 37 1 86957012 86957012 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:86957012C>T ENST00000234701.3 + 10 1773 c.1422C>T c.(1420-1422)gcC>gcT p.A474A CLCA1_ENST00000394711.1_Silent_p.A474A A8K7I4 CLCA1_HUMAN chloride channel accessory 1 474 VWFA. calcium ion transport extracellular space|integral to plasma membrane chloride channel activity NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) CTTTTGGGGCCCTTTCATCAG 0.388000 22 47 0 0 0.014323 0 0 NCR2 9436 broad.mit.edu 37 6 41318520 41318520 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:41318520C>T ENST00000373089.5 + 5 837 c.749C>T c.(748-750)tCc>tTc p.S250F NCR2_ENST00000373086.3_3'UTR|NCR2_ENST00000373083.4_3'UTR NM_004828.3 NP_004819.2 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 250 cellular defense response integral to plasma membrane transmembrane receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) acctcagtttcctcacctgta 0.433000 12 22 0 0 0.010729 0 0 DAB2 1601 broad.mit.edu 37 5 39390557 39390557 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:39390557T>A ENST00000545653.1 - 5 981 c.451A>T c.(451-453)Acc>Tcc p.T151S DAB2_ENST00000509337.1_Missense_Mutation_p.T151S|DAB2_ENST00000512525.1_5'UTR|DAB2_ENST00000320816.6_Missense_Mutation_p.T151S|DAB2_ENST00000339788.6_Missense_Mutation_p.T151S NM_001244871.1 NP_001231800.1 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 151 PID. cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) TGTTGCCCGGTTTTTATGGCA 0.448000 17 51 0 0 0.008871 0 0 LAMA2 3908 broad.mit.edu 37 6 129722412 129722412 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:129722412A>G ENST00000421865.2 + 38 5538 c.5489A>G c.(5488-5490)aAc>aGc p.N1830S NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1830 Domain II and I. 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) CAAATTGAGAACACTTTAAAA 0.388000 22 56 0 0 0.004656 0 0 CLEC16A 23274 broad.mit.edu 37 16 11272318 11272318 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:11272318G>A ENST00000409790.1 + 24 3163 c.2933G>A c.(2932-2934)aGc>aAc p.S978N CLEC16A_ENST00000381822.2_Missense_Mutation_p.S65N NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 978 p.0?(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 GAGACAGCCAGCCTGTCCCCC 0.627000 10 51 0 0 0.006214 0 0 CLINT1 9685 broad.mit.edu 37 5 157216574 157216574 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:157216574G>A ENST00000523094.1 - 11 1533 c.1326_splice c.e11-1 p.P443_splice CLINT1_ENST00000296951.5_Splice_Site_p.P443_splice|CLINT1_ENST00000523908.1_Splice_Site_p.P461_splice|CLINT1_ENST00000530742.1_Splice_Site_p.P443_splice|CLINT1_ENST00000411809.2_Intron NM_001195555.1|NM_001195556.1 NP_001182484.1|NP_001182485.1 Q14677 EPN4_HUMAN clathrin interactor 1 459 endocytosis|post-Golgi vesicle-mediated transport clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm clathrin binding|lipid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1) 21 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) ATTTTGCAAAGGCTGGAAAAT 0.343000 11 21 0 0 0.008291 0 0 LPA 4018 broad.mit.edu 37 6 161007585 161007585 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:161007585C>T ENST00000447678.1 - 26 4145 c.4025G>A c.(4024-4026)aGa>aAa p.R1342K LPA_ENST00000316300.5_Missense_Mutation_p.R1342K NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3850 Kringle 12. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GTACTCCCATCTGACACTGGG 0.502000 20 48 0 0 0.008871 0 0 PSG9 5678 broad.mit.edu 37 19 43762487 43762487 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:43762487C>T ENST00000244293.7 - 4 897 c.831G>A c.(829-831)ggG>ggA p.G277G PSG9_ENST00000443718.3_Silent_p.G277G|PSG9_ENST00000270077.3_Silent_p.G370G|PSG9_ENST00000593948.1_Silent_p.G277G|PSG9_ENST00000418820.2_Silent_p.G277G|PSG9_ENST00000291752.5_Silent_p.G184G|PSG9_ENST00000596730.1_Silent_p.G184G Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 277 Ig-like C2-type 2. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) GCTGAAACTTCCCATTAATTG 0.443000 70 145 0 0 0.014410 0 0 IL10RA 3587 broad.mit.edu 37 11 117870289 117870289 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:117870289T>A ENST00000227752.3 + 7 1790 c.1670T>A c.(1669-1671)cTc>cAc p.L557H IL10RA_ENST00000545409.1_Missense_Mutation_p.L408H|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.L537H NM_001558.3 NP_001549.2 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha 557 integral to membrane|plasma membrane interleukin-10 receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) CCAGGTGGTCTCCTGGGCAGC 0.572000 31 19 0 0 0.012213 0 0 SLC7A9 11136 broad.mit.edu 37 19 33353099 33353099 + Missense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:33353099G>T ENST00000023064.4 - 6 820 c.629C>A c.(628-630)tCt>tAt p.S210Y SLC7A9_ENST00000590341.1_Missense_Mutation_p.S210Y|SLC7A9_ENST00000587772.1_Missense_Mutation_p.S210Y NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 210 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) GCCCTCGAAAGAATTATCAAA 0.527000 22 47 6.21321e-17 6.81844e-17 0.002780 1 0 RFX7 64864 broad.mit.edu 37 15 56390286 56390286 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:56390286G>A ENST00000423270.1 - 8 1099 c.1100C>T c.(1099-1101)cCc>cTc p.P367L RFX7_ENST00000559447.2_Missense_Mutation_p.P270L|RFX7_ENST00000422057.1_Missense_Mutation_p.P270L|RFX7_ENST00000317318.6_Missense_Mutation_p.P367L NM_022841.5 NP_073752.5 Q2KHR2 RFX7_HUMAN regulatory factor X, 7 270 regulation of transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 TACCGGAATGGGACTAGGGAC 0.398000 8 21 0 0 0.004482 0 0 FBLN5 10516 broad.mit.edu 37 14 92343975 92343975 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:92343975G>A ENST00000267620.10 - 11 1333 c.1164C>T c.(1162-1164)acC>acT p.T388T FBLN5_ENST00000556154.1_Silent_p.T352T|FBLN5_ENST00000342058.4_Silent_p.T347T Q9UBX5 FBLN5_HUMAN fibulin 5 347 cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 28 all_cancers(154;0.0722) GGTACAAGATGGTAAAGGGCT 0.547000 33 22 0 0 0.004289 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50513589 50513589 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:50513589C>T ENST00000435965.1 - 2 421 c.248G>A c.(247-249)gGc>gAc p.G83D CACNA2D2_ENST00000423994.2_Missense_Mutation_p.G83D|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.G83D|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.G83D|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.G83D|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.G83D|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.G14D|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.G83D|CACNA2D2_ENST00000487413.1_5'UTR Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 2 83 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity p.G83D(1) breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) CCGCATCACGCCGTCGACCTC 0.632000 5 10 0 0 0.001168 0 0 SLC16A7 9194 broad.mit.edu 37 12 60173326 60173326 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:60173326G>A ENST00000261187.4 + 5 1467 c.1303G>A c.(1303-1305)Gaa>Aaa p.E435K SLC16A7_ENST00000547379.1_Missense_Mutation_p.E435K|SLC16A7_ENST00000543448.1_Missense_Mutation_p.E336K|SLC16A7_ENST00000552432.1_Missense_Mutation_p.E435K|SLC16A7_ENST00000552024.1_Missense_Mutation_p.E435K NM_001270622.1|NM_001270623.1|NM_004731.3 NP_001257551.1|NP_001257552.1|NP_004722.2 O60669 MOT2_HUMAN solute carrier family 16 (monocarboxylate transporter), member 7 435 integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1) 30 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) GCTTGCAAAGGAAAGGAAGGA 0.418000 3 12 0 0 0.004672 0 0 ART5 116969 broad.mit.edu 37 11 3661515 3661515 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:3661515C>T ENST00000397068.3 - 2 536 c.144G>A c.(142-144)gaG>gaA p.E48E ART5_ENST00000397067.3_Silent_p.E48E|ART5_ENST00000359918.4_Silent_p.E48E NM_053017.3 NP_443750.2 Q96L15 NAR5_HUMAN ADP-ribosyltransferase 5 48 extracellular region NAD(P)+-protein-arginine ADP-ribosyltransferase activity breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1) 11 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19) GGGCTGCCTTCTCCTCCATCT 0.627000 13 38 0 0 0.001855 0 0 SERPINI2 5276 broad.mit.edu 37 3 167183119 167183119 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:167183119G>A ENST00000476257.1 - 6 1039 c.741C>T c.(739-741)agC>agT p.S247S SERPINI2_ENST00000264677.4_Silent_p.S247S|SERPINI2_ENST00000461846.1_Silent_p.S247S|SERPINI2_ENST00000471111.1_Silent_p.S247S O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 247 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 TGATAATTAAGCTAAATTCAT 0.318000 29 61 0 0 0.008361 0 0 LOC102546299 102546299 broad.mit.edu 37 5 164028204 164028204 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:164028204C>T ENST00000486913.3 + 0 382 CTC-340A15.2_ENST00000522303.1_RNA|CTC-340A15.2_ENST00000519570.1_RNA|CTC-340A15.2_ENST00000523704.1_RNA|CTC-340A15.2_ENST00000522646.1_RNA|CTC-340A15.2_ENST00000517508.1_RNA GATCATATCCCGCAGGTGCGT 0.587000 3 3 0 0 0.009096 0 0 SNHG14 104472715 broad.mit.edu 37 15 25434596 25434596 + RNA SNP G G C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:25434596G>C ENST00000424208.1 + 0 937 SNHG14_ENST00000414175.1_RNA|SNORD115-11_ENST00000363616.1_RNA NR_003305.1 GTCCTGAAGAGAGGTGATGAC 0.527000 56 172 0 0 0.014410 0 0 SAMD4B 55095 broad.mit.edu 37 19 39866355 39866355 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:39866355C>T ENST00000314471.6 + 7 1768 c.733C>T c.(733-735)Cag>Tag p.Q245* SAMD4B_ENST00000596368.1_Nonsense_Mutation_p.Q245*|SAMD4B_ENST00000598913.1_Nonsense_Mutation_p.Q245* NM_018028.2 NP_060498.2 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 245 protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) TACAAGCCCCCAGGTCCCTGG 0.617000 57 132 0 0 0.014410 0 0 OR6Y1 391112 broad.mit.edu 37 1 158517231 158517231 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:158517231G>A ENST00000302617.3 - 1 664 c.665C>T c.(664-666)tCc>tTc p.S222F NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) AGCAGCGTAGGATGCCACCAC 0.547000 24 44 0 0 0.014323 0 0 BRD4 23476 broad.mit.edu 37 19 15350023 15350023 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:15350023G>A ENST00000263377.2 - 18 3850 c.3629C>T c.(3628-3630)cCg>cTg p.P1210L NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 1210 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) GGGGGTGGTCGGATGCTTCTG 0.607000 T C15orf55 lethal midline carcinoma of young people 9 30 0 0 0.010729 0 0 CRIP3 401262 broad.mit.edu 37 6 43273742 43273742 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:43273742C>T ENST00000274990.4 - 7 620 c.616G>A c.(616-618)Ggt>Agt p.G206S CRIP3_ENST00000372569.3_Intron Q6Q6R5 CRIP3_HUMAN cysteine-rich protein 3 206 cytoplasm zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) ACCCACAGACCATGTACATGC 0.592000 21 32 0 0 0.010504 0 0 SLC35C2 51006 broad.mit.edu 37 20 44980833 44980833 + Missense_Mutation SNP G G A rs138124634 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:44980833G>A ENST00000372227.1 - 8 1234 c.694C>T c.(694-696)Cgt>Tgt p.R232C SLC35C2_ENST00000372229.1_Missense_Mutation_p.R99C|SLC35C2_ENST00000317734.8_Missense_Mutation_p.R211C|SLC35C2_ENST00000243896.2_Missense_Mutation_p.R232C|SLC35C2_ENST00000372230.5_Missense_Mutation_p.R232C|SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000543605.1_Missense_Mutation_p.R261C Q9NQQ7 S35C2_HUMAN solute carrier family 35 (GDP-fucose transporter), member C2 232 transport integral to membrane cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 16 Myeloproliferative disorder(115;0.0122) TCCTGGAAACGGAAGATTTTC 0.582000 18 66 0 0 0.008871 0 0 PML 5371 broad.mit.edu 37 15 74326924 74326924 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:74326924C>T ENST00000435786.2 + 7 1832 c.1763C>T c.(1762-1764)tCc>tTc p.S588F PML_ENST00000359928.4_Intron|PML_ENST00000354026.6_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000268059.6_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000569477.1_Intron|PML_ENST00000436891.3_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000395132.2_Intron NM_033240.2 NP_150243.2 P29590 PML_HUMAN promyelocytic leukemia 587 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 CATTTCAGGTCCCAGGGGGCA 0.592000 T """RARA, PAX5""" """APL, ALL""" 9 20 0 0 0.004482 0 0 PTPRK 5796 broad.mit.edu 37 6 128312003 128312003 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:128312003C>T ENST00000368227.3 - 22 3424 c.3058G>A c.(3058-3060)Gat>Aat p.D1020N PTPRK_ENST00000368210.3_Missense_Mutation_p.D1021N|PTPRK_ENST00000368226.4_Missense_Mutation_p.D1003N|PTPRK_ENST00000532331.1_Missense_Mutation_p.D1025N|PTPRK_ENST00000368215.3_Missense_Mutation_p.D1002N|PTPRK_ENST00000368213.5_Missense_Mutation_p.D1009N|PTPRK_ENST00000368207.3_Missense_Mutation_p.D1035N Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1002 Tyrosine-protein phosphatase 1. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) ACTTCAGTATCATCAGGCCAA 0.348000 6 80 0 0 0.003080 0 0 DIO3 1735 broad.mit.edu 37 14 102028019 102028019 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:102028019C>T ENST00000510508.4 + 1 332 c.186C>T c.(184-186)ctC>ctT p.L62L DIO3_ENST00000359323.3_Silent_p.L36L P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 36 cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1) 22 all_neural(303;0.185) TCTGGCTTCTCGATTTCTTGT 0.662000 10 38 0 0 0.010729 0 0 RGS7 6000 broad.mit.edu 37 1 240939511 240939511 + Silent SNP C C T rs114705999 by1000genomes TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:240939511C>T ENST00000366565.1 - 18 1797 c.1416G>A c.(1414-1416)ggG>ggA p.G472G RGS7_ENST00000366562.4_Silent_p.G454G|RGS7_ENST00000348120.2_3'UTR|RGS7_ENST00000366564.1_Silent_p.G454G|RGS7_ENST00000446183.2_3'UTR|RGS7_ENST00000331110.7_Intron|RGS7_ENST00000366563.1_3'UTR NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 472 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity p.G472G(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TGAGAGATTTCCCCTGAGAAA 0.383000 5 51 0 0 0.000602 0 0 AMOTL2 51421 broad.mit.edu 37 3 134089733 134089733 + Silent SNP G G A rs139339298 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:134089733G>A ENST00000514516.1 - 2 895 c.717C>T c.(715-717)tcC>tcT p.S239S AMOTL2_ENST00000513145.1_Silent_p.S181S|AMOTL2_ENST00000511759.1_Intron|AMOTL2_ENST00000249883.5_Silent_p.S181S|AMOTL2_ENST00000422605.2_Silent_p.S181S NM_001278683.1 NP_001265612.1 Q9Y2J4 AMOL2_HUMAN angiomotin like 2 181 endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 19 GGAAGCTGTGGGAGGAGCTCA 0.697000 11 22 0 0 0.008291 0 0 EPHB6 2051 broad.mit.edu 37 7 142566827 142566827 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:142566827C>T ENST00000392957.2 + 16 3171 c.2384C>T c.(2383-2385)tCg>tTg p.S795L EPHB6_ENST00000442129.1_Missense_Mutation_p.S795L|EPHB6_ENST00000411471.2_Missense_Mutation_p.S518L NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 795 Protein kinase. 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) GTCCATCGCTCGCTGTCTGCC 0.637000 11 38 0 0 0.010729 0 0 OR2M5 127059 broad.mit.edu 37 1 248308994 248308994 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:248308994C>T ENST00000366476.1 + 1 545 c.545C>T c.(544-546)cCt>cTt p.P182L NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 182 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) TGTGACTTCCCTTCCCTACTA 0.418000 63 152 0 0 0.014410 0 0 ADAM22 53616 broad.mit.edu 37 7 87774472 87774472 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:87774472C>T ENST00000398204.4 + 16 1676 c.1353C>T c.(1351-1353)ttC>ttT p.F451F ADAM22_ENST00000398201.4_Silent_p.F451F|ADAM22_ENST00000315984.7_Silent_p.F451F|ADAM22_ENST00000398209.3_Silent_p.F451F|ADAM22_ENST00000265727.7_Silent_p.F451F NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 451 Disintegrin. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) GCAATGGCTTCATTGAAACTG 0.413000 19 27 0 0 0.003330 0 0 MED12L 116931 broad.mit.edu 37 3 151127083 151127083 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:151127083C>T ENST00000474524.1 + 38 5806 c.5768C>T c.(5767-5769)cCt>cTt p.P1923L MED12L_ENST00000273432.4_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1923 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CGGCCCTCCCCTCAGCTCCCT 0.532000 22 69 0 0 0.003330 0 0 RGS22 26166 broad.mit.edu 37 8 101014554 101014554 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:101014554C>T ENST00000360863.6 - 18 2860 c.2666G>A c.(2665-2667)cGg>cAg p.R889Q RGS22_ENST00000523437.1_Missense_Mutation_p.R877Q|RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523287.1_Missense_Mutation_p.R708Q NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 889 RGS 1. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AGTTATTCTCCGGAACTGCTC 0.318000 7 28 0 0 0.001984 0 0 GTF2F1 2962 broad.mit.edu 37 19 6387513 6387513 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:6387513G>A ENST00000394456.5 - 5 848 c.384C>T c.(382-384)acC>acT p.T128T CTB-180A7.6_ENST00000599584.1_RNA|GTF2F1_ENST00000429701.2_Intron NM_002096.2 NP_002087.2 P35269 T2FA_HUMAN general transcription factor IIF, polypeptide 1, 74kDa 128 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cell junction|transcription factor TFIIF complex catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4) 16 CGGGGCACTGGGTGAAGATGT 0.632000 25 40 0 0 0.003954 0 0 RBBP6 5930 broad.mit.edu 37 16 24573481 24573481 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:24573481C>T ENST00000319715.4 + 10 1720 c.1289_splice c.e10+1 p.R430_splice RBBP6_ENST00000381039.3_Splice_Site_p.R430_splice|RBBP6_ENST00000348022.2_Splice_Site_p.R430_splice NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 430 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) TGGACCTTTTCGGTAAGCCTG 0.403000 22 46 0 0 0.003330 0 0 SOS1 6654 broad.mit.edu 37 2 39222477 39222477 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:39222477G>A ENST00000426016.1 - 21 3219 c.3133C>T c.(3133-3135)Cca>Tca p.P1045S SOS1_ENST00000402219.2_Missense_Mutation_p.P1045S|SOS1_ENST00000395038.2_Missense_Mutation_p.P1045S Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 1045 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) CCTGGTCTTGGGTTTGATGGA 0.408000 Noonan syndrome 29 55 0 0 0.010818 0 0 OR10H5 284433 broad.mit.edu 37 19 15905669 15905669 + Nonsense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:15905669G>T ENST00000308940.8 + 1 909 c.811G>T c.(811-813)Gga>Tga p.G271* NM_001004466.1 NP_001004466.1 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, member 5 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 GTCTCCGGAAGGAGACACCTT 0.567000 11 22 1.61879e-10 1.77066e-10 0.013537 1 0 GJA8 2703 broad.mit.edu 37 1 147381356 147381356 + Missense_Mutation SNP G G A rs150041151 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:147381356G>A ENST00000240986.4 + 2 1327 c.1274G>A c.(1273-1275)cGa>cAa p.R425Q GJA8_ENST00000369235.1_Missense_Mutation_p.R425Q NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 425 cell communication|visual perception connexon complex|integral to plasma membrane channel activity p.R425Q(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) GCCAGCAGCCGAGCCAGGTCA 0.502000 13 23 0 0 0.003163 0 0 GORASP2 26003 broad.mit.edu 37 2 171822366 171822366 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:171822366C>T ENST00000234160.4 + 10 1900 c.1085C>T c.(1084-1086)tCc>tTc p.S362F GORASP2_ENST00000493692.1_3'UTR|GORASP2_ENST00000452526.2_Missense_Mutation_p.S374F NM_001201428.1|NM_015530.4 NP_001188357.1|NP_056345.3 Q9H8Y8 GORS2_HUMAN golgi reassembly stacking protein 2, 55kDa 362 Pro-rich. Golgi membrane breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 CCCCTGCCATCCGAGTTCCTC 0.582000 24 38 0 0 0.005443 0 0 PLCH1 23007 broad.mit.edu 37 3 155200306 155200306 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:155200306G>A ENST00000460012.1 - 23 3776 c.3419C>T c.(3418-3420)tCc>tTc p.S1140F PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Missense_Mutation_p.S1178F|PLCH1_ENST00000414191.1_Missense_Mutation_p.S1140F|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.S1140F Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1178 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AATAAGATGGGAAATTACACT 0.463000 11 31 0 0 0.013537 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18808905 18808905 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:18808905G>A ENST00000400664.1 + 1 1482 c.1430G>A c.(1429-1431)gGg>gAg p.G477E NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 477 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TGCCTGAGCGGGGCAGAGCGC 0.667000 29 67 0 0 0.006320 0 0 MAP7 9053 broad.mit.edu 37 6 136742909 136742909 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:136742909C>T ENST00000354570.3 - 2 506 c.96G>A c.(94-96)aaG>aaA p.K32K MAP7_ENST00000544465.1_Silent_p.K17K|MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000438100.2_Silent_p.K54K|MAP7_ENST00000454590.1_Silent_p.K54K 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 32 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) AGGCATTTTTCTTATCTTGCA 0.378000 10 86 0 0 0.010729 0 0 OR7D4 125958 broad.mit.edu 37 19 9325025 9325025 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9325025C>T ENST00000308682.2 - 1 517 c.489G>A c.(487-489)atG>atA p.M163I NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 TCAACCTCTTCATCAGTAGAA 0.507000 26 38 0 0 0.003330 0 0 MRGPRD 116512 broad.mit.edu 37 11 68748292 68748292 + Missense_Mutation SNP C C T rs138059734 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:68748292C>T ENST00000309106.3 - 1 163 c.164G>A c.(163-165)cGa>cAa p.R55Q NM_198923.2 NP_944605.2 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 55 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2) 22 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CCTGTGCATTCGAAAGCCCAG 0.597000 23 33 0 0 0.014323 0 0 SETD1A 9739 broad.mit.edu 37 16 30970485 30970485 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:30970485C>T ENST00000262519.8 + 3 910 c.224C>T c.(223-225)tCc>tTc p.S75F NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 75 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 AGAGACTTTTCCCTCCCAGTC 0.493000 29 60 0 0 0.009535 0 0 ROBO2 6092 broad.mit.edu 37 3 77666843 77666843 + Missense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:77666843G>T ENST00000461745.1 + 22 4373 c.3473G>T c.(3472-3474)cGg>cTg p.R1158L ROBO2_ENST00000487694.3_Missense_Mutation_p.R1174L|ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Missense_Mutation_p.R1158L NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1158 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CCATCCCCACGGGAAGAGATG 0.478000 18 57 2.54575e-18 2.79475e-18 0.010504 1 0 TRBV10-2 28584 broad.mit.edu 37 7 142206977 142206977 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:142206977G>A ENST00000426318.2 - 0 34 TCCAGGGCAGGATCTTGTGTC 0.552000 6 43 0 0 0.003080 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106558318 106558318 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:106558318G>A ENST00000526355.1 - 8 2624 c.2156C>T c.(2155-2157)tCc>tTc p.S719F GUCY1A2_ENST00000282249.2_Missense_Mutation_p.S750F|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.S740F NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 719 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) GATGTTGTAGGAAACCTTTTT 0.483000 45 64 0 0 0.014410 0 0 REC8 9985 broad.mit.edu 37 14 24646965 24646965 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:24646965G>A ENST00000311457.3 + 12 1460 c.e12+1 REC8_ENST00000559919.1_Splice_Site O95072 REC8_HUMAN REC8 meiotic recombination protein mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion nucleoplasm breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(265;0.00839) CAGCCCAGAGGTGAGTAGCCT 0.637000 5 13 0 0 0.000602 0 0 MMEL1 79258 broad.mit.edu 37 1 2523021 2523021 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:2523021C>T ENST00000288709.6 - 23 2428 c.2188G>A c.(2188-2190)Gac>Aac p.D730N MMEL1_ENST00000502556.1_Missense_Mutation_p.D582N|MMEL1_ENST00000378412.3_Missense_Mutation_p.D739N NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 739 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) CTGTGGACGTCTGTCTTGATG 0.627000 46 107 0 0 0.014410 0 0 ZNF638 27332 broad.mit.edu 37 2 71650425 71650425 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:71650425G>A ENST00000409544.1 + 22 4411 c.3781G>A c.(3781-3783)Gct>Act p.A1261T ZNF638_ENST00000409407.1_Missense_Mutation_p.A201T|ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000264447.4_Missense_Mutation_p.A1261T NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 1261 Glu-rich. RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 TATGGTAGAAGCTGTAGCTGA 0.393000 11 38 0 0 0.001855 0 0 TNXB 7148 broad.mit.edu 37 6 32017111 32017111 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:32017111C>T ENST00000375244.3 - 28 9894 c.9693G>A c.(9691-9693)aaG>aaA p.K3231K TNXB_ENST00000375247.2_Silent_p.K3229K P22105 TENX_HUMAN tenascin XB 3276 Fibronectin type-III 24. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 ACAGATGCATCTTGTATTTGC 0.682000 66 175 0 0 0.014410 0 0 STXBP5L 9515 broad.mit.edu 37 3 121126146 121126146 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:121126146G>A ENST00000273666.6 + 24 2987 c.2716G>A c.(2716-2718)Ggt>Agt p.G906S STXBP5L_ENST00000471454.1_Missense_Mutation_p.G882S|STXBP5L_ENST00000492541.1_Missense_Mutation_p.G906S|STXBP5L_ENST00000497029.1_Missense_Mutation_p.G880S|STXBP5L_ENST00000472879.1_Missense_Mutation_p.G882S NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 906 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) GGACCGAATGGGTGGATTAAT 0.383000 14 26 0 0 0.001855 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110456968 110456968 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:110456968C>T ENST00000260283.4 - 13 1671 c.1387G>A c.(1387-1389)Gat>Aat p.D463N ARHGAP20_ENST00000357139.3_Missense_Mutation_p.D437N|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.D427N|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.D437N|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.D440N|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.D6N|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.D427N NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 463 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) TTCTCTTCATCATTTCCTTGA 0.259000 13 63 0 0 0.004007 0 0 FCRL5 83416 broad.mit.edu 37 1 157514687 157514687 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:157514687G>A ENST00000361835.3 - 4 650 c.493C>T c.(493-495)Cgc>Tgc p.R165C FCRL5_ENST00000368190.3_Missense_Mutation_p.R165C|FCRL5_ENST00000368191.3_Missense_Mutation_p.R80C|FCRL5_ENST00000368189.3_Missense_Mutation_p.R165C|FCRL5_ENST00000356953.4_Missense_Mutation_p.R165C NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 165 integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CCAGTACAGCGATATGCACCA 0.368000 14 83 0 0 0.002450 0 0 OPN1MW2 728458 broad.mit.edu 37 X 153490621 153490621 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:153490621C>T ENST00000369929.4 + 2 417 c.357C>T c.(355-357)ttC>ttT p.F119F OPN1MW2_ENST00000488220.1_3'UTR NM_001048181.2 NP_001041646.1 opsin 1 (cone pigments), medium-wave-sensitive 2 haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1) 6 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ATGGCTACTTCGTGCTGGGCC 0.607000 36 53 0 0 0.014410 0 0 TTLL4 9654 broad.mit.edu 37 2 219612839 219612839 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:219612839C>T ENST00000392102.1 + 12 2730 c.2390C>T c.(2389-2391)tCc>tTc p.S797F TTLL4_ENST00000258398.4_Missense_Mutation_p.S797F|TTLL4_ENST00000457313.1_Missense_Mutation_p.S632F|TTLL4_ENST00000442769.1_Missense_Mutation_p.S733F NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 797 TTL. protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) TATTCGCCTTCCATGAAGAGC 0.468000 21 44 0 0 0.012319 0 0 ERC2 26059 broad.mit.edu 37 3 56330340 56330340 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:56330340C>T ENST00000288221.6 - 3 1036 c.781G>A c.(781-783)Gag>Aag p.E261K NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 261 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CTAAAGTTCTCCTCGGTCAGC 0.542000 64 152 0 0 0.014410 0 0 CCDC170 80129 broad.mit.edu 37 6 151865706 151865706 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:151865706G>A ENST00000367290.5 + 4 532 c.e4-1 CCDC170_ENST00000239374.7_Splice_Site|CCDC170_ENST00000544131.1_Splice_Site Q8IYT3 CF097_HUMAN coiled-coil domain containing 170 TTGCCTAACAGAAAGTGTTCA 0.348000 3 13 0 0 0.004672 0 0 CD6 923 broad.mit.edu 37 11 60777153 60777153 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:60777153G>A ENST00000313421.7 + 5 1077 c.891G>A c.(889-891)tcG>tcA p.S297S CD6_ENST00000344028.5_Silent_p.S297S|CD6_ENST00000452451.2_Silent_p.S297S|CD6_ENST00000352009.5_Silent_p.S297S|CD6_ENST00000346437.4_Silent_p.S297S|CD6_ENST00000545105.1_Intron NM_006725.4 NP_006716.3 P30203 CD6_HUMAN CD6 molecule 297 SRCR 3. cell adhesion cell surface|integral to plasma membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1) 18 GGTACCCATCGGAGGCCAAGG 0.637000 15 36 0 0 0.002450 0 0 WDR3 10885 broad.mit.edu 37 1 118497970 118497970 + Silent SNP G G A rs148919618 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:118497970G>A ENST00000349139.4 + 24 2489 c.2442G>A c.(2440-2442)ggG>ggA p.G814G SPAG17_ENST00000336338.5_Intron NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 814 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) TTTTTAAAGGGATCAAGTCGA 0.333000 9 33 0 0 0.008291 0 0 ITGA2 3673 broad.mit.edu 37 5 52374689 52374689 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:52374689C>T ENST00000296585.5 + 24 3056 c.2913C>T c.(2911-2913)ttC>ttT p.F971F NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 971 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) GTCCAAAATTCATCTTCTCCC 0.373000 7 12 0 0 0.008291 0 0 PNPLA7 375775 broad.mit.edu 37 9 140437926 140437926 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:140437926G>A ENST00000406427.1 - 6 800 c.464C>T c.(463-465)tCt>tTt p.S155F PNPLA7_ENST00000277531.4_Missense_Mutation_p.S130F NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 130 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) TGGCAGGTGAGAATTCTTCAC 0.612000 31 69 0 0 0.003271 0 0 POP1 10940 broad.mit.edu 37 8 99146817 99146817 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:99146817C>T ENST00000401707.2 + 7 1022 c.941C>T c.(940-942)tCc>tTc p.S314F POP1_ENST00000349693.3_Missense_Mutation_p.S314F NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 314 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) ATCTGGAAGTCCCAGAGGACC 0.507000 23 68 0 0 0.003330 0 0 FAM3D 131177 broad.mit.edu 37 3 58635049 58635049 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:58635049C>T ENST00000358781.2 - 4 448 c.138G>A c.(136-138)aaG>aaA p.K46K NM_138805.2 NP_620160.1 Q96BQ1 FAM3D_HUMAN family with sequence similarity 3, member D 46 negative regulation of insulin secretion extracellular region cytokine activity large_intestine(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169) CACGGATCTCCTTGGTGGGCG 0.632000 15 27 0 0 0.007413 0 0 ZNF229 7772 broad.mit.edu 37 19 44936407 44936407 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:44936407C>T ENST00000588931.1 - 5 661 c.228G>A c.(226-228)agG>agA p.R76R ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000291187.4_Intron NM_014518.2 NP_055333.2 Q9UJW7 ZN229_HUMAN zinc finger protein 229 76 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) CCAGAGGATTCCTCTCACCCA 0.443000 28 66 0 0 0.008361 0 0 TBX18 9096 broad.mit.edu 37 6 85446758 85446758 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:85446758G>A ENST00000369663.5 - 8 1806 c.1469C>T c.(1468-1470)tCg>tTg p.S490L TBX18_ENST00000606784.1_Intron NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 490 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) GGACATTCCCGAAATCTGCAT 0.527000 46 112 0 0 0.014410 0 0 C11orf80 79703 broad.mit.edu 37 11 66571633 66571633 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:66571633A>G ENST00000360962.4 + 9 1017 c.1010A>G c.(1009-1011)aAc>aGc p.N337S C11orf80_ENST00000527634.1_Missense_Mutation_p.N119S|C11orf80_ENST00000540737.1_Missense_Mutation_p.N172S|C11orf80_ENST00000532565.2_Missense_Mutation_p.N118S|C11orf80_ENST00000525449.2_Missense_Mutation_p.N182S|C11orf80_ENST00000346672.4_Missense_Mutation_p.N183S NM_024650.3 NP_078926.3 Q8N6T0 CK080_HUMAN chromosome 11 open reading frame 80 182 autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 14 GTTTCTTCCAACCAGCTTAAC 0.438000 11 23 0 0 0.010729 0 0 PCOLCE2 26577 broad.mit.edu 37 3 142557691 142557691 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:142557691C>T ENST00000295992.3 - 5 937 c.631G>A c.(631-633)Gat>Aat p.D211N PCOLCE2_ENST00000485766.1_Missense_Mutation_p.D211N NM_013363.3 NP_037495.1 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 211 CUB 2. extracellular region collagen binding|heparin binding|peptidase activator activity NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 32 GCCACATAATCATATCGGCAG 0.373000 10 37 0 0 0.003163 0 0 FAM47C 442444 broad.mit.edu 37 X 37027273 37027273 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:37027273G>A ENST00000358047.3 + 1 842 c.790G>A c.(790-792)Gag>Aag p.E264K NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 264 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 GGAGCCTCCCGAGACTGGAGT 0.612000 20 9 0 0 0.010504 0 0 MYO3A 53904 broad.mit.edu 37 10 26315456 26315456 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:26315456G>A ENST00000265944.5 + 10 1114 c.948G>A c.(946-948)aaG>aaA p.K316K MYO3A_ENST00000543632.1_Silent_p.K316K NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 316 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 GCACAGAAAAGGCCAGGTAAT 0.323000 8 19 0 0 0.008291 0 0 ANK3 288 broad.mit.edu 37 10 61829254 61829254 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:61829254G>A ENST00000280772.1 - 37 11576 c.11385C>T c.(11383-11385)tcC>tcT p.S3795S 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) 3795 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 TCTGTATAGTGGAAGAATCCA 0.363000 10 51 0 0 0.006214 0 0 ADAD2 161931 broad.mit.edu 37 16 84230520 84230520 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:84230520G>A ENST00000268624.3 + 11 2031 c.1938G>A c.(1936-1938)ctG>ctA p.L646L RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000315906.5_Silent_p.L564L|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA NM_139174.3 NP_631913.3 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 564 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 CTCTCCTCCTGGACCAGCAGG 0.667000 5 12 0 0 0.001168 0 0 LRRC4 64101 broad.mit.edu 37 7 127670245 127670245 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:127670245C>T ENST00000249363.3 - 2 706 c.449G>A c.(448-450)cGg>cAg p.R150Q SND1_ENST00000354725.3_Intron NM_022143.4 NP_071426.1 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 150 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2) 26 Lung(243;0.124) CCAGAGCTCCCGCAGCTTGGA 0.612000 21 49 0 0 0.012319 0 0 PCDHB15 56121 broad.mit.edu 37 5 140625948 140625948 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140625948G>A ENST00000231173.3 + 1 802 c.802G>A c.(802-804)Gat>Aat p.D268N NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 268 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCTGCTAGGGATTTAGACAC 0.498000 5 9 0 0 0.000602 0 0 GIGYF1 64599 broad.mit.edu 37 7 100285673 100285673 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:100285673G>A ENST00000275732.5 - 2 1305 c.96C>T c.(94-96)ccC>ccT p.P32P GIGYF1_ENST00000471340.2_5'UTR NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 32 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GCTTGTATTTGGGCATGGCAG 0.637000 8 54 0 0 0.004482 0 0 RAB11B 9230 broad.mit.edu 37 19 8467468 8467468 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:8467468G>A ENST00000594216.1 + 4 554 c.530G>A c.(529-531)gGg>gAg p.G177E RAB11B_ENST00000328024.6_Intron|RAB11B_ENST00000601897.1_Missense_Mutation_p.G58E Q15907 RB11B_HUMAN RAB11B, member RAS oncogene family 0 cell cycle|protein transport|small GTPase mediated signal transduction plasma membrane GDP binding|GTP binding|GTPase activity large_intestine(2)|lung(1)|ovary(1) 4 GGACCAGATGGGTGTGGGTAG 0.512000 9 12 0 0 0.004482 0 0 DNAH5 1767 broad.mit.edu 37 5 13900509 13900509 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:13900509G>A ENST00000265104.4 - 15 2169 c.2065C>T c.(2065-2067)Cat>Tat p.H689Y NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 689 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) AGACCTACATGAATTTCTTCA 0.373000 Kartagener syndrome 4 16 0 0 0.000602 0 0 NEFM 4741 broad.mit.edu 37 8 24772225 24772225 + Nonsense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:24772225A>T ENST00000221166.5 + 1 1701 c.919A>T c.(919-921)Aag>Tag p.K307* NEFM_ENST00000518131.1_Nonsense_Mutation_p.K307*|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Nonsense_Mutation_p.K307* P07197 NFM_HUMAN neurofilament, medium polypeptide 307 Coil 2B.|Rod. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) CGAGCAGAACAAGGAGGCCAT 0.627000 13 12 0 0 0.002450 0 0 SLC35G5 83650 broad.mit.edu 37 8 11189494 11189494 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:11189494C>T ENST00000382435.4 + 1 1098 c.879C>T c.(877-879)gcC>gcT p.A293A NM_054028.1 NP_473369.1 Q96KT7 AMCL2_HUMAN solute carrier family 35, member G5 293 DUF6 2. integral to membrane TGGTTGTGGCCCTTATACTGC 0.572000 52 81 0 0 0.014410 0 0 EPHA2 1969 broad.mit.edu 37 1 16461625 16461625 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:16461625G>A ENST00000358432.5 - 7 1642 c.1488C>T c.(1486-1488)gaC>gaT p.D496D NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 496 Fibronectin type-III 2. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) CTGGGGCCAGGTCGTCCAGGG 0.662000 83 140 0 0 0.014410 0 0 NLRP14 338323 broad.mit.edu 37 11 7092536 7092536 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:7092536C>T ENST00000299481.4 + 12 3625 c.3279C>T c.(3277-3279)ttC>ttT p.F1093F NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 1093 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) GGTGGTGTTTCTGATTTGAAG 0.353000 10 20 0 0 0.006214 0 0 OR4K1 79544 broad.mit.edu 37 14 20404079 20404079 + Missense_Mutation SNP T T G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:20404079T>G ENST00000285600.4 + 1 313 c.254T>G c.(253-255)tTt>tGt p.F85C NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) CTTGTAGACTTTTTTATTGAG 0.418000 15 164 0 0 0.006122 0 0 ARHGAP19-SLIT1 100533184 broad.mit.edu 37 10 99023382 99023382 + Missense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:99023382C>A ENST00000453547.2 - 4 407 c.408G>T c.(406-408)ttG>ttT p.L136F ARHGAP19_ENST00000358531.4_Missense_Mutation_p.L136F|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.L127F|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.L136F|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.L136F|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.L127F CCTCTACTCGCAAGTCTGTTT 0.378000 8 26 0.000157383 0.000170414 0.003080 1 0 OR7E24 26648 broad.mit.edu 37 19 9362580 9362580 + Missense_Mutation SNP G G C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9362580G>C ENST00000456448.1 + 1 975 c.861G>C c.(859-861)agG>agC p.R287S NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 CATCCCCCAGGAAGAGTATGG 0.512000 13 31 0 0 0.004990 0 0 FGF5 2250 broad.mit.edu 37 4 81188190 81188190 + Missense_Mutation SNP G G A rs139356908 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:81188190G>A ENST00000456523.3 + 1 398 c.212G>A c.(211-213)gGa>gAa p.G71E FGF5_ENST00000312465.7_Missense_Mutation_p.G71E NM_033143.2 NP_149134.1 P12034 FGF5_HUMAN fibroblast growth factor 5 71 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity p.G71V(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 GGCAGCCAAGGAAGTGGCTTG 0.612000 20 47 0 0 0.014323 0 0 ITGA4 3676 broad.mit.edu 37 2 182350645 182350645 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:182350645G>A ENST00000397033.2 + 10 1509 c.1079G>A c.(1078-1080)gGa>gAa p.G360E NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 360 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) AACCTCGTTGGAAGTGACAAA 0.368000 18 25 0 0 0.014323 0 0 SOHLH2 54937 broad.mit.edu 37 13 36744763 36744763 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:36744763G>A ENST00000379881.3 - 10 1250 c.1162C>T c.(1162-1164)Cat>Tat p.H388Y CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.H465Y|SOHLH2_ENST00000554962.1_Missense_Mutation_p.H465Y NM_017826.2 NP_060296.2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 p.H388N(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273) GAAGGTAAATGAATTGAAATG 0.483000 25 38 0 0 0.003954 0 0 ZNF558 148156 broad.mit.edu 37 19 8922501 8922501 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:8922501G>A ENST00000601372.1 - 10 1376 c.665C>T c.(664-666)tCc>tTc p.S222F ZNF558_ENST00000444186.2_Missense_Mutation_p.S151F|ZNF558_ENST00000301475.1_Missense_Mutation_p.S222F Q96NG5 ZN558_HUMAN zinc finger protein 558 222 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.S222F(1) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 CAGTCTAAGGGATGAGGGATC 0.408000 7 24 0 0 0.001984 0 0 NMUR2 56923 broad.mit.edu 37 5 151784180 151784180 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:151784180C>T ENST00000255262.3 - 1 660 c.495G>A c.(493-495)agG>agA p.R165R NMUR2_ENST00000518933.1_Intron NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 165 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) TGCCGAGGATCCTGAGGGCCC 0.637000 6 27 0 0 0.001168 0 0 CHI3L2 1117 broad.mit.edu 37 1 111770380 111770380 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:111770380C>T ENST00000445067.2 + 3 800 c.29C>T c.(28-30)tCt>tTt p.S10F CHI3L2_ENST00000369744.2_Missense_Mutation_p.S10F|CHI3L2_ENST00000369748.4_Missense_Mutation_p.S10F Q15782 CH3L2_HUMAN chitinase 3-like 2 10 chitin catabolic process extracellular space cation binding|chitinase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1) 19 all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141) GACCAGAAGTCTCTCTGGGCA 0.483000 14 46 0 0 0.004007 0 0 TCEB3B 51224 broad.mit.edu 37 18 44561506 44561506 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:44561506G>A ENST00000332567.4 - 1 482 c.130C>T c.(130-132)Ctg>Ttg p.L44L KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 44 TFIIS N-terminal. regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GTCTCCGCCAGGATGTCTGCC 0.572000 4 15 0 0 0.009096 0 0 CREB3L4 148327 broad.mit.edu 37 1 153946425 153946425 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:153946425G>A ENST00000368607.3 + 10 1338 c.1072G>A c.(1072-1074)Gag>Aag p.E358K CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000271889.4_Missense_Mutation_p.E358K|CREB3L4_ENST00000368603.1_Missense_Mutation_p.E358K|CREB3L4_ENST00000368600.3_Missense_Mutation_p.E338K|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 14 30 0 0 0.001855 0 0 NMUR2 56923 broad.mit.edu 37 5 151784302 151784302 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:151784302G>A ENST00000255262.3 - 1 538 c.373C>T c.(373-375)Ctc>Ttc p.L125F NMUR2_ENST00000518933.1_Intron NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 125 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) GTCTCAAAGAGGGCCGTCTTG 0.607000 17 55 0 0 0.008871 0 0 SHFM1 7979 broad.mit.edu 37 7 96339008 96339008 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:96339008G>A ENST00000248566.2 - 1 195 c.68C>T c.(67-69)cCt>cTt p.P23L SHFM1_ENST00000413065.1_Missense_Mutation_p.P23L|SHFM1_ENST00000444799.1_Missense_Mutation_p.P23L|SHFM1_ENST00000417009.1_Missense_Mutation_p.P23L NM_006304.1 NP_006295.1 P60896 DSS1_HUMAN split hand/foot malformation (ectrodactyly) type 1 23 proteolysis proteasome complex peptidase activity|protein binding breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987) ACCTTCGGCAGGGAACTCTTC 0.597000 Homologous recombination 56 93 0 0 0.014410 0 0 IL1R2 7850 broad.mit.edu 37 2 102625058 102625058 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:102625058G>A ENST00000332549.3 + 2 250 c.21G>A c.(19-21)ttG>ttA p.L7L IL1R2_ENST00000441002.1_Silent_p.L7L|IL1R2_ENST00000393414.2_Silent_p.L7L NM_004633.3 NP_004624.1 P27930 IL1R2_HUMAN interleukin 1 receptor, type II 7 immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) TGTACGTGTTGGTAATGGGAG 0.542000 41 139 0 0 0.014410 0 0 DCUN1D3 123879 broad.mit.edu 37 16 20873619 20873619 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:20873619G>A ENST00000324344.3 - 2 527 c.242C>T c.(241-243)tCc>tTc p.S81F DCUN1D3_ENST00000563934.1_Missense_Mutation_p.S81F|ERI2_ENST00000564349.1_Intron NM_173475.2 NP_775746.1 Q8IWE4 DCNL3_HUMAN DCN1, defective in cullin neddylation 1, domain containing 3 81 negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C perinuclear region of cytoplasm NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2) 14 GBM - Glioblastoma multiforme(48;0.249) CTCGGCATTGGACTTGGACTC 0.567000 40 107 0 0 0.008740 0 0 ATP13A5 344905 broad.mit.edu 37 3 193002816 193002816 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:193002816G>A ENST00000342358.4 - 27 3230 c.3113C>T c.(3112-3114)tCa>tTa p.S1038L ATP13A5_ENST00000495496.1_5'UTR NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 1038 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) ACTTAAAATTGAACCAGGAAT 0.393000 9 27 0 0 0.006214 0 0 SYT15 83849 broad.mit.edu 37 10 46968689 46968689 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:46968689G>A ENST00000374323.3 - 2 993 c.406C>T c.(406-408)Ctt>Ttt p.L136F SYT15_ENST00000374325.3_Missense_Mutation_p.L83F|SYT15_ENST00000374321.4_Missense_Mutation_p.L83F|SYT15_ENST00000503753.1_Missense_Mutation_p.L83F Q9BQS2 SYT15_HUMAN synaptotagmin XV 83 integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 CGGCCTTGAAGGGTTGGGGGC 0.637000 5 90 0 0 0.000602 0 0 LRRK1 79705 broad.mit.edu 37 15 101562664 101562664 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:101562664C>T ENST00000284395.5 + 16 2320 c.1920C>T c.(1918-1920)atC>atT p.I640I LRRK1_ENST00000388948.3_Silent_p.I643I Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 643 Roc. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AGATGATCATCGTGGGTCCCC 0.587000 18 61 0 0 0.010504 0 0 RIMS2 9699 broad.mit.edu 37 8 104898041 104898041 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:104898041A>G ENST00000507740.1 + 2 874 c.638A>G c.(637-639)gAa>gGa p.E213G RIMS2_ENST00000436393.2_Missense_Mutation_p.E183G|RIMS2_ENST00000262231.10_Missense_Mutation_p.E213G|RIMS2_ENST00000406091.3_Missense_Mutation_p.E405G NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 436 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GCTGCCATGGAAAATCAGCGA 0.458000 HNSCC(12;0.0054) 14 26 0 0 0.003163 0 0 KCNH2 3757 broad.mit.edu 37 7 150648587 150648587 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:150648587G>A ENST00000392968.2 - 5 2726 c.1606C>T c.(1606-1608)Ccc>Tcc p.P536S KCNH2_ENST00000262186.5_Missense_Mutation_p.P632S|KCNH2_ENST00000330883.4_Missense_Mutation_p.P292S|KCNH2_ENST00000430723.3_Missense_Mutation_p.P632S Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 632 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) TTGGTGTTGGGAGAGACGTTG 0.622000 41 54 0 0 0.006999 0 0 RYR1 6261 broad.mit.edu 37 19 38991630 38991630 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:38991630G>A ENST00000355481.4 + 47 7745 c.7614_splice c.e47+1 p.T2538_splice RYR1_ENST00000359596.3_Splice_Site_p.T2538_splice|RYR1_ENST00000360985.3_Splice_Site_p.T2538_splice NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2538 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) CGCTGGACACGGTGAGCAACC 0.617000 6 19 0 0 0.001168 0 0 FOLH1 2346 broad.mit.edu 37 11 49204777 49204777 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:49204777C>T ENST00000340334.7 - 8 1167 c.799G>A c.(799-801)Gga>Aga p.G267R FOLH1_ENST00000356696.3_Missense_Mutation_p.G282R|FOLH1_ENST00000533034.1_Missense_Mutation_p.G267R|FOLH1_ENST00000256999.2_Missense_Mutation_p.G282R|FOLH1_ENST00000343844.4_5'UTR NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 282 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) TCTGCAATTCCACGCCTATAA 0.348000 9 85 0 0 0.010729 0 0 NLRP13 126204 broad.mit.edu 37 19 56413423 56413423 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:56413423C>T ENST00000588751.1 - 9 2791 c.2767G>A c.(2767-2769)Gat>Aat p.D923N NLRP13_ENST00000342929.3_Missense_Mutation_p.D923N Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 923 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) AGGTTACCATCTGGGCGACCC 0.547000 9 46 0 0 0.008291 0 0 CETP 1071 broad.mit.edu 37 16 57004978 57004978 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:57004978C>T ENST00000200676.3 + 6 691 c.561C>T c.(559-561)ttC>ttT p.F187F CETP_ENST00000566128.1_Silent_p.F122F|CETP_ENST00000379780.2_Silent_p.F187F|CETP_ENST00000569082.1_3'UTR NM_000078.2 NP_000069.2 P11597 CETP_HUMAN cholesteryl ester transfer protein, plasma 187 cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling high-density lipoprotein particle|vesicle cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3) 23 TCACAAATTTCATCTCCTTCA 0.582000 14 39 0 0 0.004007 0 0 EHMT1 79813 broad.mit.edu 37 9 140708909 140708909 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:140708909C>T ENST00000460843.1 + 22 3234 c.3207C>T c.(3205-3207)tcC>tcT p.S1069S NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 1069 Pre-SET. DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) ACGACTGCTCCTCCAGCAACT 0.632000 29 80 0 0 0.003755 0 0 PARP8 79668 broad.mit.edu 37 5 50117146 50117146 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:50117146C>T ENST00000281631.5 + 16 1926 c.1768C>T c.(1768-1770)Cct>Tct p.P590S PARP8_ENST00000514342.2_Intron|PARP8_ENST00000505554.1_Missense_Mutation_p.P569S|PARP8_ENST00000505697.2_Missense_Mutation_p.P590S|PARP8_ENST00000514067.2_Intron|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Intron NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 590 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) TCCTAATGATCCTCAGATGTT 0.403000 6 31 0 0 0.003080 0 0 BRF1 2972 broad.mit.edu 37 14 105688140 105688140 + Translation_Start_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:105688140C>T ENST00000547530.1 - 0 742 BRF1_ENST00000446501.2_Missense_Mutation_p.G149D|BRF1_ENST00000440513.3_Missense_Mutation_p.G272D|BRF1_ENST00000327359.3_Missense_Mutation_p.G272D|BRF1_ENST00000546474.1_Missense_Mutation_p.G387D|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000392557.4_Missense_Mutation_p.G183D|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000379937.2_Missense_Mutation_p.G360D Q92994 TF3B_HUMAN BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) GGGGGCACCACCAAGGAGCTC 0.687000 6 9 0 0 0.001984 0 0 FAT3 120114 broad.mit.edu 37 11 92616291 92616291 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:92616291G>A ENST00000298047.6 + 23 12686 c.12669G>A c.(12667-12669)caG>caA p.Q4223Q FAT3_ENST00000533797.1_Silent_p.Q558Q|FAT3_ENST00000409404.2_Silent_p.Q4223Q|FAT3_ENST00000525166.1_Silent_p.Q4073Q Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4223 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ACGTCTACCAGGAGGTGGGGC 0.672000 TCGA Ovarian(4;0.039) 59 170 0 0 0.014410 0 0 SLC25A16 8034 broad.mit.edu 37 10 70248224 70248224 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:70248224G>A ENST00000265870.2 - 7 871 c.773_splice c.e7+1 p.S258_splice SLC25A16_ENST00000539557.1_Splice_Site_p.S160_splice|SLC25A16_ENST00000493963.1_5'UTR NM_152707.3 NP_689920.1 P16260 GDC_HUMAN solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16 258 coenzyme biosynthetic process|pantothenate metabolic process integral to membrane|mitochondrial inner membrane binding|solute:solute antiporter activity endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 7 AGAAACTTACGATATTGTCTG 0.318000 4 12 0 0 0.009096 0 0 VLDLR 7436 broad.mit.edu 37 9 2648285 2648285 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:2648285C>T ENST00000382100.2 + 13 2256 c.1900C>T c.(1900-1902)Cgt>Tgt p.R634C VLDLR_ENST00000382099.2_Missense_Mutation_p.R634C NM_003383.3 NP_003374.3 P98155 VLDLR_HUMAN very low density lipoprotein receptor 634 cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123) TGGCCAAGATCGTAGGATAGT 0.408000 40 39 0 0 0.007835 0 0 TNC 3371 broad.mit.edu 37 9 117849292 117849292 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:117849292C>T ENST00000350763.4 - 3 1129 c.718G>A c.(718-720)Gaa>Aaa p.E240K TNC_ENST00000542877.1_Missense_Mutation_p.E240K|TNC_ENST00000340094.3_Missense_Mutation_p.E240K|TNC_ENST00000535648.1_Missense_Mutation_p.E240K|TNC_ENST00000345230.3_Missense_Mutation_p.E240K|TNC_ENST00000537320.1_Missense_Mutation_p.E240K|TNC_ENST00000346706.3_Missense_Mutation_p.E240K|TNC_ENST00000423613.2_Missense_Mutation_p.E240K|TNC_ENST00000341037.4_Missense_Mutation_p.E240K NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 240 EGF-like 3. 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 GCGTAGCCTTCGAAACAGATG 0.607000 15 34 0 0 0.004007 0 0 LRRC10 376132 broad.mit.edu 37 12 70004117 70004117 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:70004117C>T ENST00000361484.3 - 1 825 c.502G>A c.(502-504)Gag>Aag p.E168K NM_201550.2 NP_963844.2 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 168 nucleus large_intestine(2)|lung(6) 8 all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) GTCCTCAGCTCCTGGAGGCGC 0.607000 9 47 0 0 0.004482 0 0 ZNF648 127665 broad.mit.edu 37 1 182025607 182025607 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:182025607G>A ENST00000339948.3 - 2 1746 c.1539C>T c.(1537-1539)ttC>ttT p.F513F NM_001009992.1 NP_001009992.1 Q5T619 ZN648_HUMAN zinc finger protein 648 513 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 40 AGGCAATGCGGAAGGCCCTGC 0.622000 8 16 0 0 0.003080 0 0 TMEM117 84216 broad.mit.edu 37 12 44238716 44238716 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:44238716C>T ENST00000266534.3 + 2 389 c.262C>T c.(262-264)Cat>Tat p.H88Y TMEM117_ENST00000551577.1_Missense_Mutation_p.H88Y|TMEM117_ENST00000536799.1_Missense_Mutation_p.P17L NM_032256.1 NP_115632.1 Q9H0C3 TM117_HUMAN transmembrane protein 117 88 endoplasmic reticulum|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1) 23 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) ATTTCTGTTCCATCAGCGTTT 0.373000 35 22 0 0 0.008740 0 0 FCRL3 115352 broad.mit.edu 37 1 157667587 157667587 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:157667587G>A ENST00000368184.3 - 5 712 c.421C>T c.(421-423)Cct>Tct p.P141S FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.P141S NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 141 Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) TAACTATTAGGAAGCTGTTTT 0.353000 25 85 0 0 0.006320 0 0 SLC22A8 9376 broad.mit.edu 37 11 62782234 62782234 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:62782234G>A ENST00000336232.2 - 2 332 c.197C>T c.(196-198)cCa>cTa p.P66L SLC22A8_ENST00000430500.2_Missense_Mutation_p.P66L|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000311438.8_Missense_Mutation_p.P66L|SLC22A8_ENST00000545207.1_Intron NM_001184732.1|NM_001184736.1|NM_004254.3 NP_001171661.1|NP_001171665.1|NP_004245.2 Q8TCC7 S22A8_HUMAN solute carrier family 22 (organic anion transporter), member 8 66 response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 CTTCCCATTTGGGCCCATGGG 0.632000 80 113 0 0 0.014410 0 0 ADCY8 114 broad.mit.edu 37 8 131792904 131792904 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:131792904C>T ENST00000286355.5 - 18 5580 c.3488G>A c.(3487-3489)gGa>gAa p.G1163E ADCY8_ENST00000377928.3_Missense_Mutation_p.G1032E NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 1163 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|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TTTGATTTTTCCTTCCTGTTC 0.512000 HNSCC(32;0.087) 24 50 0 0 0.003330 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519312 113519312 + Missense_Mutation SNP C C T rs76910192 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:113519312C>T ENST00000284601.3 - 4 1903 c.1835G>A c.(1834-1836)gGg>gAg p.G612E NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 612 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 ACCAGTTATCCCTCCTAAAGC 0.393000 5 92 0 0 0.000602 0 0 TRDV1 28518 broad.mit.edu 37 14 22564750 22564750 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:22564750C>T ENST00000390452.2 + 0 219 AGATGATTTTCCTTATTCGCC 0.428000 19 55 0 0 0.007413 0 0 SNTN 132203 broad.mit.edu 37 3 63638413 63638413 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:63638413G>A ENST00000496807.1 + 1 40 c.38G>A c.(37-39)gGa>gAa p.G13E SNTN_ENST00000343837.3_Missense_Mutation_p.G17E A6NMZ2 SNTAN_HUMAN sentan, cilia apical structure protein 17 cilium calcium ion binding endometrium(2)|ovary(1) 3 CACTTGGAAGGAGATCCCAAT 0.478000 20 31 0 0 0.014323 0 0 TEKT3 64518 broad.mit.edu 37 17 15212016 15212016 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:15212016C>T ENST00000395930.1 - 8 1407 c.1221G>A c.(1219-1221)ccG>ccA p.P407P TEKT3_ENST00000338696.2_Silent_p.P407P NM_031898.2 NP_114104.1 Q9BXF9 TEKT3_HUMAN tektin 3 407 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 23 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) ACTCAATGTTCGGCCGTCTTG 0.577000 32 28 0 0 0.003271 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53675229 53675229 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:53675229G>A ENST00000262135.4 - 18 2935 c.2842C>T c.(2842-2844)Cct>Tct p.P948S RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.P948S|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.P948S|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.P948S NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 948 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) GATGCTGGAGGAAGTCTTTGA 0.348000 85 243 0 0 0.014410 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22473158 22473158 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:22473158G>A ENST00000557788.2 - 0 112 GCAGGTGAGGGACAGGGTCTC 0.632000 8 44 0 0 0.003080 0 0 HTR2A 3356 broad.mit.edu 37 13 47409563 47409563 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:47409563C>T ENST00000378688.4 - 3 956 c.825G>A c.(823-825)cgG>cgA p.R275R HTR2A_ENST00000543956.1_Silent_p.R191R|HTR2A_ENST00000542664.1_Silent_p.R275R P28223 5HT2A_HUMAN 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 275 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CTAATTTGGCCCGTGTGCCAA 0.458000 15 21 0 0 0.004007 0 0 F8 2157 broad.mit.edu 37 X 154159406 154159406 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:154159406C>T ENST00000360256.4 - 14 2859 c.2659G>A c.(2659-2661)Gca>Aca p.A887T NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 887 B. 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) AACTCTGTTGCTGCAGTTGTC 0.413000 13 11 0 0 0.002450 0 0 VWA3B 200403 broad.mit.edu 37 2 98928323 98928323 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:98928323C>T ENST00000477737.1 + 27 3767 c.3563C>T c.(3562-3564)cCa>cTa p.P1188L VWA3B_ENST00000490947.2_3'UTR NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1188 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CTCTTCTGGCCACTGAAAGAA 0.587000 3 14 0 0 0.009096 0 0 C14orf37 145407 broad.mit.edu 37 14 58598337 58598337 + Missense_Mutation SNP G G A rs145807752 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:58598337G>A ENST00000267485.7 - 4 1918 c.1724C>T c.(1723-1725)cCt>cTt p.P575L C14orf37_ENST00000334342.5_5'UTR NM_001001872.2 NP_001001872.2 Q86TY3 CN037_HUMAN chromosome 14 open reading frame 37 575 integral to membrane binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1) 33 AGGAAGTGCAGGGGAAATGCT 0.498000 31 34 0 0 0.008361 0 0 DSG3 1830 broad.mit.edu 37 18 29049214 29049214 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:29049214C>T ENST00000257189.4 + 12 1882 c.1799C>T c.(1798-1800)cCa>cTa p.P600L NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 600 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) ACTTCTTACCCAACCACAAGC 0.587000 26 40 0 0 0.004656 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161022294 161022294 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:161022294G>A ENST00000368013.3 - 8 1196 c.876C>T c.(874-876)atC>atT p.I292I ARHGAP30_ENST00000368016.3_Silent_p.I292I|ARHGAP30_ENST00000368015.1_Silent_p.I115I NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 292 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) CTAAATTGAAGATAGACCTCC 0.547000 30 174 0 0 0.007291 0 0 ABCB11 8647 broad.mit.edu 37 2 169850324 169850324 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:169850324G>A ENST00000263817.6 - 8 804 c.680C>T c.(679-681)aCc>aTc p.T227I NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 227 ABC transmembrane type-1 1. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) ACCACAGATGGTCGAGGTCAT 0.428000 6 8 0 0 0.001168 0 0 CASC1 55259 broad.mit.edu 37 12 25314098 25314098 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:25314098C>T ENST00000354189.5 - 3 264 c.229G>A c.(229-231)Gaa>Aaa p.E77K CASC1_ENST00000395987.3_Missense_Mutation_p.E19K|CASC1_ENST00000395990.2_5'UTR|CASC1_ENST00000320267.9_Missense_Mutation_p.E13K|CASC1_ENST00000537577.1_5'UTR|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000545133.1_Intron NM_001082972.1 NP_001076441.1 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 13 Glu-rich. breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) TTCAATCGTTCAGCTTTGGTG 0.368000 820 103 0 0 0.014410 0 0 CCDC60 160777 broad.mit.edu 37 12 119942892 119942892 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:119942892C>T ENST00000327554.2 + 7 1132 c.667C>T c.(667-669)Ccc>Tcc p.P223S RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 223 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) ATTCAAAATTCCCACAATGCG 0.517000 36 24 0 0 0.004289 0 0 MYT1L 23040 broad.mit.edu 37 2 1983498 1983498 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:1983498G>A ENST00000399161.2 - 6 799 c.52C>T c.(52-54)Cga>Tga p.R18* MYT1L_ENST00000428368.2_Nonsense_Mutation_p.R18* NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 18 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) GACATACCTCGAACCCCTTTG 0.587000 18 10 0 0 0.006122 0 0 TRIM21 6737 broad.mit.edu 37 11 4410968 4410968 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:4410968C>T ENST00000254436.7 - 3 532 c.420G>A c.(418-420)caG>caA p.Q140Q TRIM21_ENST00000543625.1_Silent_p.Q140Q NM_003141.3 NP_003132.2 P19474 RO52_HUMAN tripartite motif containing 21 140 cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3) 16 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) CTAATGCCACCTGGAGCTTCT 0.463000 20 90 0 0 0.002780 0 0 TFAP2C 7022 broad.mit.edu 37 20 55206395 55206395 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:55206395C>T ENST00000201031.2 + 2 426 c.183C>T c.(181-183)ccC>ccT p.P61P TFAP2C_ENST00000544508.1_5'UTR NM_003222.3 NP_003213.1 Q92754 AP2C_HUMAN transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) 61 Gln/Pro-rich (transactivation domain). cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Colorectal(105;0.229) CCTACTTTCCCCCTCCCTACC 0.701000 5 25 0 0 0.001168 0 0 INADL 10207 broad.mit.edu 37 1 62456008 62456008 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:62456008G>A ENST00000371158.2 + 28 3953 c.3839G>A c.(3838-3840)cGa>cAa p.R1280Q INADL_ENST00000543708.1_Missense_Mutation_p.R64Q|INADL_ENST00000545929.1_5'UTR|INADL_ENST00000316485.6_Missense_Mutation_p.R1280Q NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 1280 PDZ 7. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 GCAGATGGACGAATGCGTATT 0.453000 16 39 0 0 0.006122 0 0 OR1A1 8383 broad.mit.edu 37 17 3119431 3119431 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:3119431G>A ENST00000304094.1 + 1 517 c.517G>A c.(517-519)Gaa>Aaa p.E173K NM_014565.2 NP_055380.2 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, member 1 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 TGGCAACCAGGAAGTGGCCAA 0.488000 26 28 0 0 0.003954 0 0 TEX29 121793 broad.mit.edu 37 13 111980602 111980602 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:111980602G>A ENST00000283547.1 + 3 260 c.131G>A c.(130-132)tGc>tAc p.C44Y NM_152324.1 NP_689537.1 Q8N6K0 CM016_HUMAN testis expressed 29 44 integral to membrane CTCGGGTGCTGCTTCTACGAA 0.572000 25 29 0 0 0.006320 0 0 CACNA1H 8912 broad.mit.edu 37 16 1270464 1270464 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:1270464G>A ENST00000348261.5 + 35 6780 c.6532G>A c.(6532-6534)Gct>Act p.A2178T CACNA1H_ENST00000565831.1_Missense_Mutation_p.A2172T|CACNA1H_ENST00000358590.4_Missense_Mutation_p.A2172T NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 2178 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GGCCGAGCCCGCTCTGGGTGC 0.746000 17 44 0 0 0.006122 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74911432 74911432 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:74911432G>A ENST00000289575.5 + 11 2158 c.1763_splice c.e11+1 p.R588_splice SLCO2B1_ENST00000525650.1_Splice_Site_p.R444_splice|SLCO2B1_ENST00000532236.1_Splice_Site_p.R472_splice|SLCO2B1_ENST00000428359.2_Splice_Site_p.R566_splice|SLCO2B1_ENST00000341411.4_Splice_Site_p.R361_splice|SLCO2B1_ENST00000454962.2_Splice_Site_p.R361_splice|SLCO2B1_ENST00000531756.1_Splice_Site_p.R333_splice NM_007256.4 NP_009187.1 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 588 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) CTCATCCTAAGGTGAAGGTGG 0.602000 28 56 0 0 0.007291 0 0 TGM6 343641 broad.mit.edu 37 20 2381057 2381057 + Missense_Mutation SNP G G A rs148376598 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:2381057G>A ENST00000202625.2 + 7 1017 c.956G>A c.(955-957)cGg>cAg p.R319Q TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Missense_Mutation_p.R319Q NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 319 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) TCCTTCGGGCGGACCCTGGAG 0.612000 26 34 0 0 0.006320 0 0 GRM1 2911 broad.mit.edu 37 6 146755520 146755520 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:146755520C>T ENST00000361719.2 + 9 3643 c.3173C>T c.(3172-3174)cCc>cTc p.P1058L GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P1058L NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1058 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCCGGTGGTCCCGGGAACGGG 0.667000 8 24 0 0 0.003080 0 0 MUC16 94025 broad.mit.edu 37 19 9048241 9048241 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9048241G>A ENST00000397910.4 - 5 33593 c.33390C>T c.(33388-33390)gcC>gcT p.A11130A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11132 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 CATGACTGGTGGCCATTGAAG 0.498000 9 50 0 0 0.006214 0 0 ZNF701 55762 broad.mit.edu 37 19 53085707 53085707 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:53085707G>A ENST00000540331.1 + 5 818 c.593G>A c.(592-594)gGa>gAa p.G198E CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.G132E|ZNF701_ENST00000301093.2_Missense_Mutation_p.G198E NM_001172655.1 NP_001166126.1 Q9NV72 ZN701_HUMAN zinc finger protein 701 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(6) 14 OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402) AGGCATGCTGGAAACAAACCT 0.398000 32 64 0 0 0.003755 0 0 SERPINB6 5269 broad.mit.edu 37 6 2948624 2948624 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:2948624G>A ENST00000380520.1 - 6 3033 c.1039C>T c.(1039-1041)Ccc>Tcc p.P347S SERPINB6_ENST00000380546.3_Missense_Mutation_p.P347S|SERPINB6_ENST00000380539.1_Missense_Mutation_p.P347S|SERPINB6_ENST00000335686.5_Missense_Mutation_p.P347S|SERPINB6_ENST00000380529.1_Missense_Mutation_p.P347S|SERPINB6_ENST00000380524.1_Missense_Mutation_p.P347S P35237 SPB6_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 6 347 regulation of proteolysis centrosome|cytosol|protein complex protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2) 17 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) CAGAAGCGGGGGACGAATCTG 0.587000 8 46 0 0 0.004482 0 0 MUC16 94025 broad.mit.edu 37 19 9046043 9046043 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9046043G>A ENST00000397910.4 - 5 35791 c.35588C>T c.(35587-35589)cCa>cTa p.P11863L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11865 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 AGTTGAAGTTGGAATCATTGT 0.488000 33 86 0 0 0.012213 0 0 NCF4 4689 broad.mit.edu 37 22 37272105 37272105 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:37272105C>T ENST00000248899.6 + 9 977 c.793C>T c.(793-795)Ccc>Tcc p.P265S NCF4_ENST00000397147.4_Silent_p.L346L NM_000631.4 NP_000622.2 Q15080 NCF4_HUMAN neutrophil cytosolic factor 4, 40kDa 265 cell communication|immune response|oxidation-reduction process cytosol|NADPH oxidase complex phosphatidylinositol binding|protein dimerization activity cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 CAGCAGCACTCCCCTATTGAA 0.577000 5 11 0 0 0.000602 0 0 PREX1 57580 broad.mit.edu 37 20 47253040 47253040 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:47253040G>A ENST00000396220.1 - 32 4150 c.4128C>T c.(4126-4128)gtC>gtT p.V1376V PREX1_ENST00000371941.3_Silent_p.V1376V Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 1376 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) AGTGCAGCAGGACGCCCGTGG 0.721000 6 10 0 0 0.004482 0 0 APOB 338 broad.mit.edu 37 2 21230014 21230014 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:21230014G>A ENST00000233242.1 - 26 9853 c.9726C>T c.(9724-9726)ctC>ctT p.L3242L NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3242 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 p.L3242L(1) 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) AGGTCCTGGGGAGCTCGTCGT 0.378000 88 243 0 0 0.014410 0 0 HMGCS2 3158 broad.mit.edu 37 1 120306903 120306903 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:120306903C>T ENST00000369406.3 - 2 500 c.451G>A c.(451-453)Gat>Aat p.D151N HMGCS2_ENST00000544913.2_Missense_Mutation_p.D151N|HMGCS2_ENST00000476640.1_5'UTR NM_005518.3 NP_005509.1 P54868 HMCS2_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 151 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) TTGCCTGAATCCTGGAAGAGT 0.512000 156 344 0 0 0.014410 0 0 ST18 9705 broad.mit.edu 37 8 53084550 53084550 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:53084550C>T ENST00000276480.7 - 10 1554 c.871G>A c.(871-873)Gaa>Aaa p.E291K NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 291 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 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) CTACCCTCTTCCGTCATTACT 0.537000 11 46 0 0 0.008291 0 0 TMEM57 55219 broad.mit.edu 37 1 25784985 25784985 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:25784985C>T ENST00000374343.4 + 6 935 c.756C>T c.(754-756)taC>taT p.Y252Y TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000470035.1_3'UTR NM_018202.4 NP_060672.2 Q8N5G2 MACOI_HUMAN transmembrane protein 57 252 axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) AGATAGAATACCGAGAAAAAG 0.378000 40 59 0 0 0.008740 0 0 RYR2 6262 broad.mit.edu 37 1 237875071 237875071 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:237875071C>T ENST00000366574.2 + 71 10574 c.10257C>T c.(10255-10257)ttC>ttT p.F3419F RYR2_ENST00000542537.1_Silent_p.F3403F|RYR2_ENST00000360064.6_Silent_p.F3417F NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3419 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGCAGAACTTCGTTGTACAGA 0.323000 6 20 0 0 0.003080 0 0 RNF19B 127544 broad.mit.edu 37 1 33404090 33404090 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:33404090G>A ENST00000356990.5 - 8 1649 c.1650C>T c.(1648-1650)ccC>ccT p.P550P RNF19B_ENST00000373456.7_Silent_p.P551P|RNF19B_ENST00000235150.4_Silent_p.P550P NM_001127361.1 NP_001120833.1 Q6ZMZ0 RN19B_HUMAN ring finger protein 19B 551 integral to membrane ligase activity|protein binding|zinc ion binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4) 13 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CTGTGTCTTTGGGGAAAATTT 0.463000 18 94 0 0 0.008871 0 0 PPP1R12B 4660 broad.mit.edu 37 1 202391754 202391754 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:202391754C>T ENST00000406302.3 + 3 582 c.429C>T c.(427-429)ttC>ttT p.F143F PPP1R12B_ENST00000480184.1_Silent_p.F143F|PPP1R12B_ENST00000356764.2_Silent_p.F143F|PPP1R12B_ENST00000336894.4_Silent_p.F143F NM_001197131.1|NM_002481.3 NP_001184060.1|NP_002472.2 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory subunit 12B 143 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(75;0.166) GCAGGTATTTCATTAATCACG 0.413000 15 61 0 0 0.006122 0 0 CNGB1 1258 broad.mit.edu 37 16 57994767 57994767 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:57994767G>A ENST00000564448.1 - 8 571 c.511C>T c.(511-513)Cct>Tct p.P171S CNGB1_ENST00000311183.4_Missense_Mutation_p.P171S|CNGB1_ENST00000251102.8_Missense_Mutation_p.P171S Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 171 Pro-rich. sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 GGGGGCTGAGGAAGCACTCTT 0.637000 16 35 0 0 0.004990 0 0 CACNA1E 777 broad.mit.edu 37 1 181754848 181754848 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:181754848G>A ENST00000526775.1 + 42 5787 c.e42-1 CACNA1E_ENST00000367567.4_Splice_Site|CACNA1E_ENST00000367570.1_Splice_Site|CACNA1E_ENST00000358338.5_Splice_Site|CACNA1E_ENST00000360108.3_Splice_Site|CACNA1E_ENST00000357570.5_Splice_Site|CACNA1E_ENST00000367573.2_Splice_Site NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TTTTTACCCAGAAAAATGCCC 0.453000 52 116 0 0 0.014410 0 0 HNRNPUL1 11100 broad.mit.edu 37 19 41807588 41807588 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:41807588C>T ENST00000392006.3 + 11 1839 c.1666C>T c.(1666-1668)Cat>Tat p.H556Y HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.H456Y|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.H442Y|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.H456Y|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.H467Y|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.H456Y|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.H556Y NM_007040.3 NP_008971.2 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 556 Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 29 TGTCCCAGATCATGCGGTCTT 0.483000 16 29 0 0 0.004007 0 0 TNS4 84951 broad.mit.edu 37 17 38652542 38652542 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:38652542C>T ENST00000254051.6 - 2 294 c.136G>A c.(136-138)Gaa>Aaa p.E46K NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 46 apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) CCCCAGCCTTCCGTGGTGTAG 0.677000 37 12 0 0 0.004878 0 0 LRP1B 53353 broad.mit.edu 37 2 141819760 141819760 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:141819760C>T ENST00000389484.3 - 8 2067 c.1096G>A c.(1096-1098)Gat>Aat p.D366N NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 366 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) GTCTTTGAATCAATTATCCTT 0.423000 TSP Lung(27;0.18) 15 53 0 0 0.002450 0 0 KIAA1217 56243 broad.mit.edu 37 10 24722007 24722007 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:24722007C>T ENST00000376454.3 + 4 667 c.637C>T c.(637-639)Ctc>Ttc p.L213F KIAA1217_ENST00000430453.2_Missense_Mutation_p.L134F|KIAA1217_ENST00000458595.1_Missense_Mutation_p.L213F|KIAA1217_ENST00000376462.1_Missense_Mutation_p.L133F|KIAA1217_ENST00000376452.3_Missense_Mutation_p.L213F NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 213 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 AATCCGTGCTCTCTTCGTAAG 0.458000 7 24 0 0 0.003080 0 0 XIRP2 129446 broad.mit.edu 37 2 168104641 168104641 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:168104641C>T ENST00000409195.1 + 9 6828 c.6739C>T c.(6739-6741)Cac>Tac p.H2247Y XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H2025Y|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.H2247Y NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2072 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 GACTGATGTTCACTTGAAAAG 0.383000 9 12 0 0 0.008291 0 0 HPS1 3257 broad.mit.edu 37 10 100183637 100183637 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:100183637G>A ENST00000325103.6 - 15 1638 c.1405C>T c.(1405-1407)Cag>Tag p.Q469* HPS1_ENST00000361490.4_Nonsense_Mutation_p.Q469*|HPS1_ENST00000467246.1_5'UTR NM_000195.3 NP_000186.2 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 469 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) CCACATGCCTGGAGCAGCCTG 0.642000 Hermansky-Pudlak syndrome 5 24 0 0 0.001168 0 0 TRIM21 6737 broad.mit.edu 37 11 4410916 4410916 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:4410916C>T ENST00000254436.7 - 3 584 c.472G>A c.(472-474)Gtg>Atg p.V158M TRIM21_ENST00000543625.1_Missense_Mutation_p.V158M NM_003141.3 NP_003132.2 P19474 RO52_HUMAN tripartite motif containing 21 158 cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3) 16 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) GCAATTTCCACTTCCAACTTC 0.498000 28 99 0 0 0.008361 0 0 ZNF724P 440519 broad.mit.edu 37 19 23405549 23405549 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:23405549G>A ENST00000418100.1 - 4 1615 c.1498C>T c.(1498-1500)Cat>Tat p.H500Y endometrium(3)|kidney(1)|lung(2)|ovary(2) 8 TCTCCAGTATGAATTTTCTTA 0.373000 8 12 0 0 0.004482 0 0 TCEA2 6919 broad.mit.edu 37 20 62701941 62701941 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:62701941C>T ENST00000361317.2 + 9 1133 c.691C>T c.(691-693)Ctg>Ttg p.L231L TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000343484.5_Silent_p.L258L NM_198723.1 NP_942016.1 Q15560 TCEA2_HUMAN transcription elongation factor A (SII), 2 258 TFIIS central. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent transcription elongation factor complex DNA binding|protein binding|translation elongation factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7) 12 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) GCAGACAGACCTGTTCACCTG 0.632000 6 11 0 0 0.001168 0 0 RNF17 56163 broad.mit.edu 37 13 25439030 25439030 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:25439030G>A ENST00000255324.5 + 29 4047 c.3995G>A c.(3994-3996)tGg>tAg p.W1332* RNF17_ENST00000339524.3_Intron|RNF17_ENST00000381921.1_Intron NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1332 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) AAAAATCCATGGGAGAAATTG 0.289000 33 21 0 0 0.004878 0 0 MAGEA1 4100 broad.mit.edu 37 X 152482329 152482329 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:152482329C>T ENST00000356661.5 - 3 900 c.682G>A c.(682-684)Gag>Aag p.E228K NM_004988.4 NP_004979.3 P43355 MAGA1_HUMAN melanoma antigen family A, 1 (directs expression of antigen MZ2-E) 228 MAGE. cytoplasm|plasma membrane breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCACTGTGCTCCCTCCCATCA 0.572000 33 16 0 0 0.004289 0 0 SCN3A 6328 broad.mit.edu 37 2 165947222 165947222 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:165947222G>A ENST00000360093.3 - 28 5932 c.5441C>T c.(5440-5442)tCt>tTt p.S1814F SCN3A_ENST00000409101.3_Missense_Mutation_p.S1765F|SCN3A_ENST00000540861.1_Missense_Mutation_p.S297F|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Missense_Mutation_p.S1814F NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1814 voltage-gated sodium channel complex voltage-gated sodium channel activity p.S1814Y(1)|p.S1765Y(1) 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) TGCAAAATCAGAGAGTTTAGA 0.483000 20 78 0 0 0.014323 0 0 CFHR5 81494 broad.mit.edu 37 1 196971768 196971768 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:196971768G>A ENST00000367414.5 + 8 1432 c.1376G>A c.(1375-1377)cGa>cAa p.R459Q CFHR5_ENST00000256785.4_Missense_Mutation_p.R435Q NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 435 Sushi 8. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 AAAGATGGACGATGGCAATCA 0.333000 6 20 0 0 0.001168 0 0 MYCT1 80177 broad.mit.edu 37 6 153043382 153043382 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:153043382T>C ENST00000367245.5 + 2 710 c.702T>C c.(700-702)gaT>gaC p.D234D MYCT1_ENST00000529453.1_Intron NM_025107.2 NP_079383.2 Q8N699 MYCT1_HUMAN myc target 1 234 nucleus NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 20 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) CATTCCCAGATTCCTGAGTAG 0.468000 7 77 0 0 0.003080 0 0 CYP2C19 1557 broad.mit.edu 37 10 96522541 96522541 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:96522541G>A ENST00000371321.3 + 1 161 c.79G>A c.(79-81)Gga>Aga p.G27R CYP2C19_ENST00000464755.1_Intron NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 27 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) CTCTGGGAGAGGAAAACTCCC 0.443000 21 50 0 0 0.008871 0 0 CLIP4 79745 broad.mit.edu 37 2 29356663 29356663 + Silent SNP G G A rs138670709 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:29356663G>A ENST00000320081.5 + 5 765 c.510G>A c.(508-510)ttG>ttA p.L170L CLIP4_ENST00000404424.1_Silent_p.L170L|CLIP4_ENST00000401617.2_Silent_p.L63L|CLIP4_ENST00000401605.1_Silent_p.L170L NM_024692.4 NP_078968.3 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, member 4 170 endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(172;0.155) GAGTGATTTTGAAAACATCGA 0.343000 8 24 0 0 0.004482 0 0 ABCC4 10257 broad.mit.edu 37 13 95830019 95830019 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:95830019G>A ENST00000376887.4 - 13 1783 c.1669C>T c.(1669-1671)Ctc>Ttc p.L557F ABCC4_ENST00000431522.1_Missense_Mutation_p.L557F|ABCC4_ENST00000536256.1_Missense_Mutation_p.L482F|ABCC4_ENST00000412704.1_Missense_Mutation_p.L557F|ABCC4_ENST00000538287.1_3'UTR NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 557 ABC transporter 1. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TCGTCCAGGAGATAGATGTCA 0.433000 16 15 0 0 0.007413 0 0 OR8H1 219469 broad.mit.edu 37 11 56058404 56058404 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:56058404C>T ENST00000313022.2 - 1 162 c.135G>A c.(133-135)atG>atA p.M45I NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) TTATCAATATCATCCCCACAT 0.428000 53 97 0 0 0.014410 0 0 HTR7 3363 broad.mit.edu 37 10 92509065 92509065 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:92509065G>A ENST00000371721.3 - 2 1068 c.826C>T c.(826-828)Cct>Tct p.P276S HTR7_ENST00000371719.2_Missense_Mutation_p.P276S|HTR7_ENST00000277874.6_Missense_Mutation_p.P276S|HTR7_ENST00000336152.3_Missense_Mutation_p.P276S P34969 5HT7R_HUMAN 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled 276 blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) GGGAAGCCAGGAAACTTGTGT 0.512000 7 25 0 0 0.003080 0 0 OR8A1 390275 broad.mit.edu 37 11 124440379 124440379 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:124440379C>T ENST00000284287.3 + 1 487 c.415C>T c.(415-417)Cgc>Tgc p.R139C NM_001005194.1 NP_001005194.1 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, member 1 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2) 22 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) GGCCTACGACCGCTATGTTGC 0.493000 5 37 0 0 0.000602 0 0 CNN1 1264 broad.mit.edu 37 19 11660273 11660273 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:11660273G>A ENST00000592923.1 + 7 1064 c.487G>A c.(487-489)Gga>Aga p.G163R CNN1_ENST00000544952.1_Missense_Mutation_p.G193R|CNN1_ENST00000535659.2_Missense_Mutation_p.G163R|CNN1_ENST00000252456.2_Missense_Mutation_p.G213R P51911 CNN1_HUMAN calponin 1, basic, smooth muscle 213 actomyosin structure organization|regulation of smooth muscle contraction cytoskeleton actin binding|calmodulin binding breast(1)|endometrium(2)|large_intestine(4)|lung(2) 9 CACCAACAAAGGAGCCAGCCA 0.692000 12 24 0 0 0.013537 0 0 B3GALT1 8708 broad.mit.edu 37 2 168725897 168725897 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:168725897C>T ENST00000305861.1 + 2 699 c.348C>T c.(346-348)ttC>ttT p.F116F B3GALT1_ENST00000392690.2_Silent_p.F116F|AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA NM_020981.3 NP_066191.1 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 116 lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 CCACCCTGTTCCTCCTGGGCA 0.488000 15 26 0 0 0.002450 0 0 PCLO 27445 broad.mit.edu 37 7 82582368 82582368 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:82582368G>A ENST00000423517.2 - 5 8238 c.7901C>T c.(7900-7902)tCt>tTt p.S2634F PCLO_ENST00000333891.8_Missense_Mutation_p.S2634F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2565 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 CTGTTCTGAAGAAATTGGAAT 0.453000 33 54 0 0 0.003271 0 0 XKR3 150165 broad.mit.edu 37 22 17288700 17288700 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:17288700G>A ENST00000331428.5 - 2 366 c.264C>T c.(262-264)ttC>ttT p.F88F NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 88 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AGTCTTTGTTGAAAAACATCA 0.338000 14 44 0 0 0.003163 0 0 CD93 22918 broad.mit.edu 37 20 23065742 23065742 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:23065742C>T ENST00000246006.4 - 1 1235 c.1088G>A c.(1087-1089)gGg>gAg p.G363E NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 363 EGF-like 3; calcium-binding (Potential). cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GCGGAAGCCCCCAGGGGTGTT 0.642000 10 19 0 0 0.008291 0 0 NGF 4803 broad.mit.edu 37 1 115828826 115828826 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:115828826C>T ENST00000369512.2 - 3 759 c.591G>A c.(589-591)tgG>tgA p.W197* RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 197 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) AATATGAGTTCCAGTGCTTTG 0.512000 17 52 0 0 0.006122 0 0 PLEKHA1 59338 broad.mit.edu 37 10 124152833 124152833 + Silent SNP C C T rs142005373 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:124152833C>T ENST00000368988.1 + 2 240 c.117C>T c.(115-117)ttC>ttT p.F39F PLEKHA1_ENST00000433307.1_Silent_p.F39F|PLEKHA1_ENST00000368990.3_Silent_p.F39F|PLEKHA1_ENST00000538022.1_Silent_p.F39F|PLEKHA1_ENST00000494222.1_3'UTR|PLEKHA1_ENST00000368989.2_Silent_p.F39F Q9HB21 PKHA1_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 39 PH 1. B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization cytoplasm|nucleus|ruffle membrane PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding p.F39F(2) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 13 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) AAGATAGTTTCGTGTGGTACA 0.343000 4 20 0 0 0.009096 0 0 CMYA5 202333 broad.mit.edu 37 5 79033450 79033450 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:79033450G>A ENST00000446378.2 + 2 8893 c.8862G>A c.(8860-8862)ttG>ttA p.L2954L NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2954 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) GTGAGATATTGAATATTCATG 0.368000 6 14 0 0 0.001168 0 0 CHRDL1 91851 broad.mit.edu 37 X 109922606 109922606 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:109922606C>T ENST00000218054.4 - 11 1394 c.1198G>A c.(1198-1200)Gag>Aag p.E400K CHRDL1_ENST00000434224.1_Missense_Mutation_p.E321K|CHRDL1_ENST00000394797.4_Missense_Mutation_p.E400K|CHRDL1_ENST00000444321.2_Missense_Mutation_p.E401K|CHRDL1_ENST00000482160.1_Missense_Mutation_p.E322K|CHRDL1_ENST00000372042.1_Missense_Mutation_p.E402K|CHRDL1_ENST00000372045.1_Missense_Mutation_p.E394K NM_001143981.1|NM_001143982.1|NM_145234.3 NP_001137453.1|NP_001137454.1|NP_660277.2 Q9BU40 CRDL1_HUMAN chordin-like 1 394 BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1) 31 GGAAGCTCCTCAAACATCCTC 0.448000 12 34 0 0 0.001855 0 0 LRRC66 339977 broad.mit.edu 37 4 52860896 52860896 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:52860896C>T ENST00000343457.3 - 4 2298 c.2292G>A c.(2290-2292)ggG>ggA p.G764G NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 764 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 TCTTGCATTTCCCTGGAATTG 0.463000 36 27 0 0 0.003755 0 0 SLC22A14 9389 broad.mit.edu 37 3 38355398 38355398 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:38355398C>T ENST00000273173.4 + 7 1435 c.1344C>T c.(1342-1344)atC>atT p.I448I SLC22A14_ENST00000448498.1_Silent_p.I448I NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 448 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) TCCAAGCCATCATCTGGTGCT 0.592000 24 66 0 0 0.004656 0 0 CD2 914 broad.mit.edu 37 1 117311250 117311250 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:117311250G>A ENST00000369478.3 + 5 1009 c.901G>A c.(901-903)Gga>Aga p.G301R NM_001767.3 NP_001758.2 P06729 CD2_HUMAN CD2 molecule 301 Pro-rich. 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) CCCGCCTCCTGGACACCGTGT 0.602000 18 54 0 0 0.004990 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798094 55798094 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:55798094C>T ENST00000313555.1 + 1 200 c.200C>T c.(199-201)tCt>tTt p.S67F NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) AGCAACTTATCTTTCTTAGAC 0.343000 12 35 0 0 0.010729 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110439294 110439294 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:110439294G>A ENST00000378402.5 + 25 3013 c.2909G>A c.(2908-2910)gGa>gAa p.G970E NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 970 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) GAGGGAATGGGAAGAATCTCA 0.552000 HNSCC(38;0.096) 13 40 0 0 0.001855 0 0 PDPN 10630 broad.mit.edu 37 1 13940889 13940889 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:13940889A>T ENST00000294489.6 + 5 1034 c.693A>T c.(691-693)aaA>aaT p.K231N PDPN_ENST00000475043.1_Missense_Mutation_p.K113N|PDPN_ENST00000509009.1_Missense_Mutation_p.K150N|PDPN_ENST00000376057.4_Missense_Mutation_p.K231N|PDPN_ENST00000487038.1_Missense_Mutation_p.K113N|PDPN_ENST00000376061.4_Missense_Mutation_p.K113N|PDPN_ENST00000513143.1_Missense_Mutation_p.K113N Q86YL7 PDPN_HUMAN podoplanin 155 cell morphogenesis|lymphangiogenesis|regulation of cell shape filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) TTATGCGAAAAATGTCGGGAA 0.418000 36 72 0 0 0.006999 0 0 OAS3 4940 broad.mit.edu 37 12 113407527 113407527 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:113407527G>A ENST00000228928.7 + 15 3398 c.3219G>A c.(3217-3219)cgG>cgA p.R1073R RP1-71H24.1_ENST00000552784.1_RNA NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 1073 OAS domain 3. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 GCATGGGACGGAATGGCATCC 0.622000 19 8 0 0 0.014323 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530067 140530067 + Missense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140530067G>T ENST00000231136.1 + 1 229 c.229G>T c.(229-231)Gat>Tat p.D77Y PCDHB6_ENST00000543635.1_Intron NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 77 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTGCAGTTTGATCCACAGAC 0.532000 22 59 2.37509e-13 2.60123e-13 0.010504 1 0 ADRB1 153 broad.mit.edu 37 10 115804525 115804525 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:115804525G>A ENST00000369295.2 + 1 720 c.634G>A c.(634-636)Gac>Aac p.D212N NM_000684.2 NP_000675.1 P08588 ADRB1_HUMAN adrenoceptor beta 1 212 positive regulation of cAMP biosynthetic process integral to plasma membrane alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity large_intestine(4)|lung(1)|upper_aerodigestive_tract(1) 6 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0124)|all cancers(201;0.0298) Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246) CTGCTACAACGACCCCAAGTG 0.652000 4 19 0 0 0.000602 0 0 OR2T6 254879 broad.mit.edu 37 1 248551788 248551788 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:248551788G>A ENST00000355728.2 + 1 879 c.879G>A c.(877-879)agG>agA p.R293R NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 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) ACAGTCTGAGGAACAGGGATG 0.458000 16 38 0 0 0.008871 0 0 GPRIN2 9721 broad.mit.edu 37 10 46999750 46999750 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:46999750C>T ENST00000374314.4 + 1 1825 c.870C>T c.(868-870)tcC>tcT p.S290S GPRIN2_ENST00000374317.1_Silent_p.S290S O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 290 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 CTGGGCATTCCCATTGCTGTG 0.597000 5 82 0 0 0.001168 0 0 MARCH10 162333 broad.mit.edu 37 17 60879061 60879061 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:60879061G>A ENST00000544856.2 - 3 414 c.36C>T c.(34-36)ttC>ttT p.F12F MARCH10_ENST00000456609.2_Silent_p.F12F|MARCH10_ENST00000311269.5_Silent_p.F12F|MARCH10_ENST00000583600.1_Silent_p.F12F Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 12 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 GAACATCGCTGAAGAACTTCT 0.453000 81 30 0 0 0.014410 0 0 ECEL1 9427 broad.mit.edu 37 2 233346544 233346544 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:233346544C>T ENST00000304546.1 - 13 2022 c.1812G>A c.(1810-1812)ggG>ggA p.G604G ECEL1_ENST00000409941.1_Silent_p.G602G NM_004826.2 NP_004817.2 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 604 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) TGCCGATGCCCCCGTAGTTGA 0.677000 11 41 0 0 0.010729 0 0 SEC16A 9919 broad.mit.edu 37 9 139345853 139345853 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:139345853G>A ENST00000313050.7 - 21 6240 c.6167C>T c.(6166-6168)tCg>tTg p.S2056L SEC16A_ENST00000290037.6_Missense_Mutation_p.S1878L|SEC16A_ENST00000371706.3_Missense_Mutation_p.S1878L|SEC16A_ENST00000431893.2_Missense_Mutation_p.S1878L NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 1878 Pro-rich.|Required for interaction with SEC23A. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) CACCGTCCTCGAGGGGGTCTG 0.627000 6 38 0 0 0.001168 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43895992 43895992 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:43895992G>A ENST00000389420.3 - 4 829 c.830C>T c.(829-831)tCg>tTg p.S277L ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S277L NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 277 Peptidase M12B. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TTGCAAATTCGATCCATGAGC 0.289000 13 8 0 0 0.001855 0 0 TCEB3B 51224 broad.mit.edu 37 18 44561247 44561247 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:44561247C>T ENST00000332567.4 - 1 741 c.389G>A c.(388-390)cGg>cAg p.R130Q KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 130 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GCGTGCTGTCCGTCTGTGCTC 0.637000 18 106 0 0 0.007413 0 0 ALK 238 broad.mit.edu 37 2 29754810 29754810 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:29754810G>A ENST00000389048.3 - 4 2031 c.1125C>T c.(1123-1125)atC>atT p.I375I ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 375 MAM 1. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GCATCAGGAGGATCTCTCTTG 0.532000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 14 37 0 0 0.002450 0 0 OR5T1 390155 broad.mit.edu 37 11 56043563 56043563 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:56043563C>T ENST00000313033.2 + 1 535 c.449C>T c.(448-450)cCc>cTc p.P150L NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) AGCATGTCACCCAGAGTCTAT 0.448000 54 125 0 0 0.014410 0 0 CLCN6 1185 broad.mit.edu 37 1 11889376 11889376 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:11889376C>T ENST00000346436.6 + 13 1297 c.1245C>T c.(1243-1245)ctC>ctT p.L415L CLCN6_ENST00000376487.3_Silent_p.L393L|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Silent_p.L415L NM_001286.3 NP_001277.1 P51797 CLCN6_HUMAN chloride channel, voltage-sensitive 6 415 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) CATTCCAGCTCCAGGTAACCC 0.483000 23 42 0 0 0.014323 0 0 SERPINA7 6906 broad.mit.edu 37 X 105280677 105280677 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:105280677C>T ENST00000327674.4 - 1 708 c.373G>A c.(373-375)Gaa>Aaa p.E125K SERPINA7_ENST00000372563.1_Missense_Mutation_p.E125K P05543 THBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 125 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) AATTCCAGTTCCTTCTTTGGA 0.453000 63 23 0 0 0.014410 0 0 SLC4A11 83959 broad.mit.edu 37 20 3210170 3210170 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:3210170C>T ENST00000380059.3 - 14 1972 c.1871_splice c.e14+1 p.S624_splice SLC4A11_ENST00000539553.1_Splice_Site_p.S581_splice|SLC4A11_ENST00000380056.3_Splice_Site_p.S597_splice|SLC4A11_ENST00000474451.1_5'UTR NM_001174090.1 NP_001167561.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 597 Membrane (bicarbonate transporter). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 AGCCCCTCACCTCTTCTTGAA 0.657000 12 28 0 0 0.003163 0 0 KALRN 8997 broad.mit.edu 37 3 123946890 123946890 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:123946890G>A ENST00000360013.3 + 2 248 c.121G>A c.(121-123)Gaa>Aaa p.E41K KALRN_ENST00000460856.1_Missense_Mutation_p.E41K|KALRN_ENST00000240874.3_Missense_Mutation_p.E41K NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 41 CRAL-TRIO. 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 TATCCTAAAGGAAAAGGTGGC 0.458000 26 120 0 0 0.006320 0 0 DPP9 91039 broad.mit.edu 37 19 4684699 4684699 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:4684699G>A ENST00000262960.9 - 18 2431 c.2154C>T c.(2152-2154)ttC>ttT p.F718F DPP9_ENST00000598800.1_Silent_p.F689F|AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000601173.1_5'UTR|DPP9_ENST00000594671.1_Silent_p.F689F NM_139159.4 NP_631898.3 Q86TI2 DPP9_HUMAN dipeptidyl-peptidase 9 689 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) GGGCCCCTTCGAACCGAAGCC 0.602000 3 8 0 0 0.004672 0 0 PACSIN1 29993 broad.mit.edu 37 6 34499442 34499442 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:34499442C>T ENST00000538621.1 + 9 1348 c.1103C>T c.(1102-1104)cCc>cTc p.P368L PACSIN1_ENST00000374043.2_Missense_Mutation_p.P326L|PACSIN1_ENST00000244458.2_Missense_Mutation_p.P368L NM_001199583.1 NP_001186512.1 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in neurons 1 368 endocytosis protein kinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 13 AGTGGGAACCCCTTTGGGGGC 0.627000 17 140 0 0 0.010504 0 0 TRANK1 9881 broad.mit.edu 37 3 36898104 36898104 + Missense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:36898104C>A ENST00000429976.2 - 12 3224 c.2977G>T c.(2977-2979)Gcc>Tcc p.A993S TRANK1_ENST00000428977.2_Missense_Mutation_p.A443S|TRANK1_ENST00000301807.6_Missense_Mutation_p.A443S O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 993 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 ATGTTAAAGGCCATGTTGGTG 0.537000 57 143 2.3441e-25 2.57526e-25 0.014410 1 0 PIWIL4 143689 broad.mit.edu 37 11 94340698 94340698 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:94340698C>T ENST00000299001.6 + 14 1943 c.1732C>T c.(1732-1734)Ctt>Ttt p.L578F RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA NM_152431.2 NP_689644.2 Q7Z3Z4 PIWL4_HUMAN piwi-like RNA-mediated gene silencing 4 578 Piwi. cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2) 30 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CCAATGTGTGCTTGCTCGGAC 0.463000 16 27 0 0 0.004990 0 0 FAM135B 51059 broad.mit.edu 37 8 139153476 139153476 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:139153476C>T ENST00000395297.1 - 17 3925 c.3755G>A c.(3754-3756)gGa>gAa p.G1252E NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1252 p.G1252V(2)|p.G1252E(2) 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) GTACAGGGTTCCCAGGTGAGG 0.537000 HNSCC(54;0.14) 26 43 0 0 0.004656 0 0 ZNF43 7594 broad.mit.edu 37 19 21992307 21992307 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:21992307C>T ENST00000594012.1 - 7 1028 c.514G>A c.(514-516)Gaa>Aaa p.E172K ZNF43_ENST00000354959.4_Missense_Mutation_p.E178K|ZNF43_ENST00000595461.1_Missense_Mutation_p.E172K|ZNF43_ENST00000598381.1_Missense_Mutation_p.E172K NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) TTGCCACATTCTTTGCATTTG 0.289000 12 18 0 0 0.010729 0 0 RNF144B 255488 broad.mit.edu 37 6 18465262 18465262 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:18465262G>A ENST00000259939.3 + 8 1193 c.876G>A c.(874-876)cgG>cgA p.R292R RNF144B_ENST00000429054.2_Silent_p.R203R NM_182757.3 NP_877434.2 Q7Z419 R144B_HUMAN ring finger protein 144B 292 apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(7) 11 Ovarian(93;0.00365)|Breast(50;0.0145) all_hematologic(90;0.0536) OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105) AGTCCTGTCGGGGCAAGAAGA 0.493000 16 15 0 0 0.003163 0 0 PLXNB1 5364 broad.mit.edu 37 3 48464919 48464919 + Missense_Mutation SNP G G C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:48464919G>C ENST00000358536.4 - 3 1371 c.1102C>G c.(1102-1104)Cca>Gca p.P368A PLXNB1_ENST00000358459.4_Missense_Mutation_p.P368A|PLXNB1_ENST00000456774.1_Missense_Mutation_p.P368A|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.P368A NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 368 Sema. axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CTCACCACTGGCAGCTGTGCA 0.597000 4 57 0 0 0.000602 0 0 ARAP1 116985 broad.mit.edu 37 11 72423317 72423317 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:72423317C>T ENST00000359373.5 - 7 1797 c.946G>A c.(946-948)Gac>Aac p.D316N ARAP1_ENST00000429686.1_Missense_Mutation_p.D71N|ARAP1_ENST00000426523.1_Missense_Mutation_p.D71N|ARAP1_ENST00000334211.8_Missense_Mutation_p.D71N|ARAP1_ENST00000455638.2_Missense_Mutation_p.D316N|ARAP1_ENST00000393609.3_Missense_Mutation_p.D316N|ARAP1_ENST00000393605.3_Missense_Mutation_p.D76N Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 316 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 GGCGGCCCGTCCATGGGGTGT 0.662000 114 254 0 0 0.014410 0 0 EDN1 1906 broad.mit.edu 37 6 12294190 12294190 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:12294190G>A ENST00000379375.5 + 3 517 c.250G>A c.(250-252)Gga>Aga p.G84R NM_001168319.1|NM_001955.4 NP_001161791.1|NP_001946.3 P05305 EDN1_HUMAN endothelin 1 84 artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction cytoplasm|extracellular space cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 13 all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12) all_hematologic(90;0.117) TGTTCCGTATGGACTTGGAAG 0.413000 11 16 0 0 0.010729 0 0 FOXJ1 2302 broad.mit.edu 37 17 74136158 74136158 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:74136158G>A ENST00000322957.6 - 2 673 c.319C>T c.(319-321)Cca>Tca p.P107S NM_001454.3 NP_001445.2 Q92949 FOXJ1_HUMAN forkhead box J1 107 actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding large_intestine(1)|liver(1)|pancreas(1)|skin(1) 4 LUSC - Lung squamous cell carcinoma(166;0.187) TCGGGGGGTGGGGCCTGCAGC 0.726000 7 18 0 0 0.004482 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72191409 72191409 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:72191409G>A ENST00000555818.1 + 17 4882 c.4534G>A c.(4534-4536)Gaa>Aaa p.E1512K SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E1491K|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.E966K|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E1491K NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1512 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) CGATGGCAATGAAATAGCCCA 0.493000 17 26 0 0 0.014323 0 0 FGF6 2251 broad.mit.edu 37 12 4554479 4554479 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:4554479C>T ENST00000228837.2 - 1 301 c.258G>A c.(256-258)cgG>cgA p.R86R NM_020996.1 NP_066276.2 P10767 FGF6_HUMAN fibroblast growth factor 6 86 angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space growth factor activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) AGTAGAGCCTCCGCTGCCGCT 0.652000 20 16 0 0 0.008871 0 0 OPLAH 26873 broad.mit.edu 37 8 145111556 145111556 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:145111556G>A ENST00000426825.1 - 13 1890 c.1809C>T c.(1807-1809)ccC>ccT p.P603P OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 603 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) CCCCCGCACGGGGCGAGCGGG 0.672000 6 20 0 0 0.001168 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42067532 42067532 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:42067532C>T ENST00000457542.2 + 2 345 c.59C>T c.(58-60)tCc>tTc p.S20F MAPKBP1_ENST00000260357.7_5'UTR|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.S20F|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.S20F|MAPKBP1_ENST00000507762.1_Intron|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.S20F NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 20 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) AGATCTCCATCCATCAAACTG 0.547000 14 36 0 0 0.004007 0 0 OVCH2 341277 broad.mit.edu 37 11 7721909 7721909 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:7721909C>T ENST00000454689.1 - 0 834 OVCH2_ENST00000534193.1_RNA NM_198185.3 NP_937828.3 ovochymase 2 (gene/pseudogene) cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2) 15 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) CCAGGGGATCCTTGATCACTT 0.507000 8 22 0 0 0.003080 0 0 ADAM28 10863 broad.mit.edu 37 8 24168913 24168913 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:24168913G>A ENST00000265769.4 + 5 456 c.346G>A c.(346-348)Gtt>Att p.V116I RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.V116I|ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000519689.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 116 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) TAATGAAAAGGTTTCTGACGC 0.373000 17 35 0 0 0.010504 0 0 RIN2 54453 broad.mit.edu 37 20 19956095 19956095 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:19956095C>T ENST00000255006.6 + 8 1722 c.1573C>T c.(1573-1575)Ccc>Tcc p.P525S RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR NM_001242581.1|NM_018993.3 NP_001229510.1|NP_061866.1 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 476 endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 CATGGCGCCCCCCATCAAGTC 0.587000 10 37 0 0 0.006214 0 0 PLB1 151056 broad.mit.edu 37 2 28855815 28855815 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:28855815G>A ENST00000422425.2 + 55 4018 c.3974G>A c.(3973-3975)gGg>gAg p.G1325E PLB1_ENST00000327757.5_Missense_Mutation_p.G1336E|PLB1_ENST00000541605.1_Missense_Mutation_p.G301E NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 1336 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) TTGCAGAGAGGGGACACTGAC 0.582000 21 48 0 0 0.003330 0 0 WDFY3 23001 broad.mit.edu 37 4 85674967 85674967 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:85674967G>A ENST00000322366.6 - 35 6029 c.5622C>T c.(5620-5622)ttC>ttT p.F1874F WDFY3_ENST00000295888.4_Silent_p.F1874F Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1874 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) AATATCTGAAGAACTGCATCA 0.483000 12 23 0 0 0.013537 0 0 ENTHD1 150350 broad.mit.edu 37 22 40283749 40283749 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:40283749C>T ENST00000325157.6 - 2 254 c.4G>A c.(4-6)Gcg>Acg p.A2T NM_152512.3 NP_689725.2 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 2 breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) CTCCTGAACGCCATAAGTAAT 0.408000 5 22 0 0 0.001168 0 0 OR10R2 343406 broad.mit.edu 37 1 158450494 158450494 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:158450494C>T ENST00000368152.1 + 1 827 c.827C>T c.(826-828)tCc>tTc p.S276F RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) GGCTGTGCTTCCTTCATCTAC 0.488000 21 33 0 0 0.010504 0 0 IMPG1 3617 broad.mit.edu 37 6 76751789 76751789 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:76751789C>T ENST00000369950.3 - 2 311 c.122G>A c.(121-123)aGa>aAa p.R41K IMPG1_ENST00000369963.3_Intron NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 41 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TGTTTCATTTCTTGGGGGATT 0.318000 27 57 0 0 0.009535 0 0 HHIPL2 79802 broad.mit.edu 37 1 222721128 222721128 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:222721128C>T ENST00000343410.6 - 1 317 c.259G>A c.(259-261)Gaa>Aaa p.E87K NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 87 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) TCAAAATATTCCATGATGTCC 0.522000 191 341 0 0 0.014410 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576787 33576787 + Missense_Mutation SNP G G A rs149776016 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:33576787G>A ENST00000504830.1 - 19 3679 c.3344C>T c.(3343-3345)tCg>tTg p.S1115L ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S1030L NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1115 Spacer 2. 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 GCCTCCCTCCGAGGTAGGACC 0.493000 HNSCC(64;0.19) 16 27 0 0 0.004007 0 0 TTN 7273 broad.mit.edu 37 2 179556794 179556794 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179556794C>T ENST00000589042.1 - 121 31935 c.31711G>A c.(31711-31713)Gag>Aag p.E10571K TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E9327K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E10254K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10254 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) GGCTTTTTCTCCTCTGGCACG 0.463000 9 48 0 0 0.006214 0 0 DNAH9 1770 broad.mit.edu 37 17 11556254 11556254 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:11556254G>A ENST00000262442.3 + 14 2598 c.2530G>A c.(2530-2532)Gat>Aat p.D844N DNAH9_ENST00000454412.2_Missense_Mutation_p.D844N NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 844 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 p.D844Y(1) 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) TGATCGGCATGATCGAATGGA 0.418000 12 32 0 0 0.013537 0 0 ANKRD7 56311 broad.mit.edu 37 7 117876137 117876137 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:117876137C>T ENST00000357099.4 + 5 744 c.571C>T c.(571-573)Cca>Tca p.P191S ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000433239.1_Missense_Mutation_p.P118S|ANKRD7_ENST00000417525.1_Missense_Mutation_p.P118S|ANKRD7_ENST00000265224.4_Missense_Mutation_p.P171S Q92527 ANKR7_HUMAN ankyrin repeat domain 7 171 male gonad development breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1) 29 TAACAATAATCCAAAAATGGT 0.279000 8 79 0 0 0.006214 0 0 ABCC4 10257 broad.mit.edu 37 13 95861831 95861831 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:95861831G>A ENST00000376887.4 - 6 756 c.642C>T c.(640-642)ttC>ttT p.F214F ABCC4_ENST00000431522.1_Silent_p.F214F|ABCC4_ENST00000536256.1_Silent_p.F139F|ABCC4_ENST00000412704.1_Silent_p.F214F|ABCC4_ENST00000538287.1_3'UTR NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 214 ABC transmembrane type-1 1. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) CTGCCCACAGGAAGTGTAAGA 0.473000 4 21 0 0 0.000602 0 0 MRAP2 112609 broad.mit.edu 37 6 84765107 84765107 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:84765107G>A ENST00000257776.4 + 2 205 c.70G>A c.(70-72)Gaa>Aaa p.E24K NM_138409.2 NP_612418.2 Q96G30 MRAP2_HUMAN melanocortin 2 receptor accessory protein 2 24 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 19 TTACACCTGGGAATATGAATA 0.393000 21 43 0 0 0.008871 0 0 DOCK3 1795 broad.mit.edu 37 3 51198003 51198003 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:51198003G>A ENST00000266037.9 + 12 930 c.907G>A c.(907-909)Gac>Aac p.D303N NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 303 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GCTCCTGAACGACTCAAAGAA 0.507000 5 13 0 0 0.001168 0 0 SEMA3D 223117 broad.mit.edu 37 7 84697527 84697527 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:84697527G>A ENST00000284136.6 - 5 612 c.569C>T c.(568-570)cCt>cTt p.P190L SEMA3D_ENST00000444867.1_Missense_Mutation_p.P190L NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 190 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 TGAAGCAAAAGGCTGCTGAGG 0.358000 19 20 0 0 0.014323 0 0 FRAS1 80144 broad.mit.edu 37 4 79410226 79410226 + Missense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:79410226G>T ENST00000264895.6 + 59 9390 c.8950G>T c.(8950-8952)Ggg>Tgg p.G2984W NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2979 Calx-beta 4. cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 ATTTCTCAAAGGGGACAAAGT 0.398000 14 17 2.31682e-05 2.51316e-05 0.003163 1 0 ZNF138 7697 broad.mit.edu 37 7 64292269 64292269 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:64292269C>T ENST00000359735.3 + 4 825 c.478C>T c.(478-480)Cat>Tat p.H160Y ZNF138_ENST00000307355.7_Missense_Mutation_p.H217Y|ZNF138_ENST00000397136.2_Missense_Mutation_p.H160Y|ZNF138_ENST00000440155.2_Missense_Mutation_p.H191Y|ZNF138_ENST00000440598.1_3'UTR|ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000437743.1_Missense_Mutation_p.H185Y NM_001271637.1|NM_001271639.1 NP_001258566.1|NP_001258568.1 B4DP87 B4DP87_HUMAN zinc finger protein 138 191 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding kidney(1)|large_intestine(3)|lung(2)|stomach(1) 7 Lung NSC(55;0.0795)|all_lung(88;0.18) TAAGAAAATTCATACTGGAGA 0.333000 18 23 0 0 0.007413 0 0 HTR1D 3352 broad.mit.edu 37 1 23520171 23520171 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:23520171G>A ENST00000374619.1 - 1 1051 c.542C>T c.(541-543)gCc>gTc p.A181V HTR1D_ENST00000314113.3_Missense_Mutation_p.A181V NM_000864.4 NP_000855.1 P28221 5HT1D_HUMAN 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled 181 G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission integral to plasma membrane serotonin receptor activity NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185) Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315) CTCCTCCTGGGCCTTGGCCTG 0.602000 20 46 0 0 0.012319 0 0 SPTLC2 9517 broad.mit.edu 37 14 77978671 77978671 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:77978671C>T ENST00000216484.2 - 12 1838 c.1645G>A c.(1645-1647)Gac>Aac p.D549N NM_004863.3 NP_004854.1 O15270 SPTC2_HUMAN serine palmitoyltransferase, long chain base subunit 2 549 integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5) 19 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0346) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) AAGGGCCTGTCCAGTAGAGGT 0.493000 9 67 0 0 0.004482 0 0 RPTN 126638 broad.mit.edu 37 1 152128866 152128866 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:152128866C>T ENST00000316073.3 - 3 773 c.709G>A c.(709-711)Gat>Aat p.D237N NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 237 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TAATGAGAATCCTGAATTGGT 0.413000 60 106 0 0 0.014410 0 0 ENPP4 22875 broad.mit.edu 37 6 46111020 46111020 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:46111020C>T ENST00000321037.4 + 4 1235 c.1005C>T c.(1003-1005)gaC>gaT p.D335D NM_014936.4 NP_055751.1 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) 335 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 18 CAGTAGGTGACCATGGTTATG 0.358000 20 62 0 0 0.004656 0 0 PHLDB1 23187 broad.mit.edu 37 11 118513099 118513099 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:118513099C>T ENST00000361417.2 + 14 3275 c.2864C>T c.(2863-2865)tCc>tTc p.S955F PHLDB1_ENST00000534672.1_Intron|PHLDB1_ENST00000527898.1_Intron|PHLDB1_ENST00000356063.5_Intron|PHLDB1_ENST00000524713.1_Missense_Mutation_p.S98F NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 955 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) GCCAAAGCTTCCCGTCAGCTG 0.637000 25 36 0 0 0.006320 0 0 PSD4 23550 broad.mit.edu 37 2 113950132 113950132 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:113950132C>T ENST00000245796.6 + 6 1999 c.1804C>T c.(1804-1806)Cgg>Tgg p.R602W PSD4_ENST00000441564.2_Missense_Mutation_p.R574W NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 602 SEC7. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GGAGGGCTTCCGGAAGTCTGA 0.597000 8 21 0 0 0.004482 0 0 CDRT1 374286 broad.mit.edu 37 17 15519090 15519090 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:15519090G>A ENST00000455584.2 - 8 1512 c.1469C>T c.(1468-1470)tCc>tTc p.S490F CDRT1_ENST00000395906.3_Missense_Mutation_p.S180F TTTCTCAGGGGAAAAACACAC 0.473000 12 20 0 0 0.013537 0 0 GPR116 221395 broad.mit.edu 37 6 46821784 46821784 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:46821784T>C ENST00000283296.7 - 21 4274 c.3986A>G c.(3985-3987)gAa>gGa p.E1329G GPR116_ENST00000456426.2_Missense_Mutation_p.E1187G|GPR116_ENST00000362015.4_Missense_Mutation_p.E1309G|GPR116_ENST00000545669.1_3'UTR|GPR116_ENST00000265417.7_Missense_Mutation_p.E1329G NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 1329 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) GCTGGTTGCTTCTGGGGTGGA 0.498000 51 98 0 0 0.014410 0 0 MYH11 4629 broad.mit.edu 37 16 15835382 15835382 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:15835382C>T ENST00000338282.6 - 22 2903 c.2797G>A c.(2797-2799)Gag>Aag p.E933K MYH11_ENST00000396324.3_Missense_Mutation_p.E940K|MYH11_ENST00000300036.5_Missense_Mutation_p.E933K|MYH11_ENST00000452625.2_Missense_Mutation_p.E940K|AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000576790.1_Missense_Mutation_p.E933K NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 933 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 TCTTCCTCCTCCTCCAGGCGG 0.612000 T CBFB AML 19 88 0 0 0.008871 0 0 OSBPL3 26031 broad.mit.edu 37 7 24854706 24854706 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:24854706G>A ENST00000313367.2 - 19 2595 c.2144C>T c.(2143-2145)tCc>tTc p.S715F OSBPL3_ENST00000396431.1_Missense_Mutation_p.S684F|OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000353930.1_Missense_Mutation_p.S679F|OSBPL3_ENST00000431825.2_Missense_Mutation_p.S648F|OSBPL3_ENST00000352860.1_Missense_Mutation_p.S684F|OSBPL3_ENST00000409069.1_Missense_Mutation_p.S648F|OSBPL3_ENST00000396429.1_Missense_Mutation_p.S679F NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 715 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 GCAGTAGCAGGAATCATCATG 0.502000 73 142 0 0 0.014410 0 0 PLCB4 5332 broad.mit.edu 37 20 9317805 9317805 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:9317805C>T ENST00000378501.2 + 2 132 c.117C>T c.(115-117)ttC>ttT p.F39F PLCB4_ENST00000378493.1_Silent_p.F39F|PLCB4_ENST00000414679.2_Silent_p.F39F|PLCB4_ENST00000278655.4_Silent_p.F39F|PLCB4_ENST00000378473.3_Silent_p.F39F|PLCB4_ENST00000334005.3_Silent_p.F39F|PLCB4_ENST00000492632.1_3'UTR NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 39 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.F39F(1) 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 ACTGCCTCTTCAAAGTGGATG 0.378000 7 52 0 0 0.010729 0 0 DNAH10 196385 broad.mit.edu 37 12 124364270 124364270 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:124364270C>T ENST00000409039.3 + 49 8227 c.8202C>T c.(8200-8202)ttC>ttT p.F2734F NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2734 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TTGGAGACTTCCAGATGGCTC 0.512000 105 71 0 0 0.014410 0 0 GRM8 2918 broad.mit.edu 37 7 126173045 126173045 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:126173045G>A ENST00000339582.2 - 9 3199 c.2391C>T c.(2389-2391)ttC>ttT p.F797F GRM8_ENST00000358373.3_Silent_p.F797F|GRM8_ENST00000444921.2_Silent_p.F797F O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 797 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) AGATGGGGATGAAAGCTAACC 0.393000 HNSCC(24;0.065) 9 26 0 0 0.013537 0 0 APOB 338 broad.mit.edu 37 2 21234337 21234337 + Silent SNP C C T rs149787297 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:21234337C>T ENST00000233242.1 - 26 5530 c.5403G>A c.(5401-5403)ctG>ctA p.L1801L NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1801 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 p.L1801L(1) 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) CATTGTATTTCAGGTCACTGT 0.403000 142 527 0 0 0.014410 0 0 SLC4A8 9498 broad.mit.edu 37 12 51853830 51853830 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:51853830C>T ENST00000453097.2 + 8 1168 c.951C>T c.(949-951)gcC>gcT p.A317A SLC4A8_ENST00000535225.2_Silent_p.A264A|SLC4A8_ENST00000358657.3_Silent_p.A344A|SLC4A8_ENST00000514353.3_Silent_p.A264A|SLC4A8_ENST00000394856.1_Silent_p.A264A NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 317 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) CCATTGTTGCCTTTGTGAGGC 0.458000 120 74 0 0 0.014410 0 0 VPS13B 157680 broad.mit.edu 37 8 100520086 100520086 + Nonsense_Mutation SNP C C T rs145741622 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:100520086C>T ENST00000358544.2 + 28 4357 c.4246C>T c.(4246-4248)Cga>Tga p.R1416* VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Intron NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1416 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) CTTGTTGGTTCGACCCATCAG 0.453000 22 55 0 0 0.005443 0 0 POPDC3 64208 broad.mit.edu 37 6 105606598 105606598 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:105606598C>T ENST00000254765.3 - 4 901 c.623G>A c.(622-624)cGa>cAa p.R208Q BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369120.2_RNA NM_022361.4 NP_071756.2 Q9HBV1 POPD3_HUMAN popeye domain containing 3 208 integral to membrane NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1) 26 all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238) AGACACATATCGACAATCAGT 0.413000 20 172 0 0 0.008871 0 0 RGPD3 653489 broad.mit.edu 37 2 107041049 107041049 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:107041049C>T ENST00000409886.3 - 20 3461 c.3374G>A c.(3373-3375)gGa>gAa p.G1125E RGPD3_ENST00000304514.7_Missense_Mutation_p.G1125E NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1125 RanBD1 1. intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCTATCTGATCCAGAGAGGGG 0.433000 47 202 0 0 0.014410 0 0 PCDH18 54510 broad.mit.edu 37 4 138452772 138452772 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:138452772G>A ENST00000344876.4 - 1 857 c.471C>T c.(469-471)ccC>ccT p.P157P PCDH18_ENST00000507846.1_5'UTR|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Silent_p.P157P NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 157 Cadherin 2. 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) CACTGTCCAGGGGAATGCGAG 0.443000 10 11 0 0 0.010729 0 0 MLIP 90523 broad.mit.edu 37 6 53989330 53989330 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:53989330G>A ENST00000514921.1 + 3 392 c.279G>A c.(277-279)gcG>gcA p.A93A MLIP_ENST00000509997.1_Silent_p.A41A|MLIP_ENST00000358276.5_Silent_p.A87A|MLIP_ENST00000502396.1_Silent_p.A104A|MLIP_ENST00000370877.2_Silent_p.A41A|MLIP_ENST00000274897.5_Silent_p.A93A|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370876.2_Silent_p.A31A Q5VWP3 MLIP_HUMAN muscular LMNA-interacting protein 93 nuclear envelope|PML body protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 GAGACCAAGCGAAATTGACTT 0.403000 22 36 0 0 0.002780 0 0 RYR3 6263 broad.mit.edu 37 15 34145783 34145783 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:34145783G>A ENST00000389232.4 + 96 13769 c.13699G>A c.(13699-13701)Gga>Aga p.G4567R RYR3_ENST00000415757.3_Missense_Mutation_p.G4562R|RYR3_ENST00000559917.1_3'UTR NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 4567 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AGATCTCTACGGAGCAGAACG 0.488000 10 24 0 0 0.013537 0 0 MARCH10 162333 broad.mit.edu 37 17 60814506 60814506 + Silent SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:60814506T>A ENST00000544856.2 - 7 1098 c.720A>T c.(718-720)ggA>ggT p.G240G MARCH10_ENST00000456609.2_Silent_p.G241G|MARCH10_ENST00000311269.5_Silent_p.G241G|MARCH10_ENST00000583600.1_Silent_p.G279G|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 241 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 GACTATTTTTTCCTTGGAAGG 0.532000 90 31 0 0 0.014410 0 0 SDK1 221935 broad.mit.edu 37 7 3990647 3990647 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:3990647G>A ENST00000404826.2 + 6 1079 c.940G>A c.(940-942)Gaa>Aaa p.E314K SDK1_ENST00000389531.3_Missense_Mutation_p.E314K NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 314 Ig-like C2-type 3. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GACCACCTTGGAATGTATAGC 0.547000 17 26 0 0 0.007413 0 0 SRGAP3 9901 broad.mit.edu 37 3 9034636 9034636 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:9034636G>A ENST00000383836.3 - 20 2939 c.2512C>T c.(2512-2514)Ccc>Tcc p.P838S SRGAP3_ENST00000360413.3_Missense_Mutation_p.P814S NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 838 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) TGCTCCGTGGGGGACTGGAGG 0.567000 T RAF1 pilocytic astrocytoma 20 42 0 0 0.008871 0 0 DAW1 164781 broad.mit.edu 37 2 228769694 228769694 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:228769694G>A ENST00000373666.2 + 8 1334 c.698G>A c.(697-699)aGa>aAa p.R233K DAW1_ENST00000545118.1_Missense_Mutation_p.R218K|DAW1_ENST00000309931.2_Missense_Mutation_p.R233K dynein assembly factor with WDR repeat domains 1 TCAGGAGACAGAATCATCACG 0.408000 38 76 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179640842 179640842 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179640842G>A ENST00000589042.1 - 28 5973 c.5749C>T c.(5749-5751)Cct>Tct p.P1917S TTN_ENST00000460472.2_Missense_Mutation_p.P1871S|TTN_ENST00000360870.5_Missense_Mutation_p.P1917S|TTN_ENST00000359218.5_Missense_Mutation_p.P1871S|TTN_ENST00000342992.6_Missense_Mutation_p.P1917S|TTN_ENST00000342175.6_Missense_Mutation_p.P1871S|TTN_ENST00000591111.1_Missense_Mutation_p.P1917S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1635 Ig-like 9. 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) ACACCTTCAGGATTTTCCGCG 0.453000 28 136 0 0 0.008361 0 0 OR4C15 81309 broad.mit.edu 37 11 55321940 55321940 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:55321940G>A ENST00000314644.2 + 1 158 c.158G>A c.(157-159)gGa>gAa p.G53E NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TTTTCCTTGGGAAACATGCAA 0.358000 HNSCC(20;0.049) 29 83 0 0 0.012213 0 0 GPR42 2866 broad.mit.edu 37 19 35862963 35862963 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:35862963C>T ENST00000454971.1 + 2 903 c.702C>T c.(700-702)ttC>ttT p.F234F GPR42_ENST00000597214.1_Silent_p.F234F G protein-coupled receptor 42 (gene/pseudogene) endometrium(1)|kidney(1)|skin(2) 4 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) TGCTCAACTTCCTTGTCTGCT 0.642000 17 17 0 0 0.004990 0 0 PODXL2 50512 broad.mit.edu 37 3 127358261 127358261 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:127358261C>T ENST00000342480.6 + 2 283 c.244C>T c.(244-246)Ccc>Tcc p.P82S NM_015720.2 NP_056535.1 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 82 leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 26 CTCAGGCTTCCCCAGCGAAGA 0.602000 7 20 0 0 0.003080 0 0 FOLH1 2346 broad.mit.edu 37 11 49204776 49204776 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:49204776C>T ENST00000340334.7 - 8 1168 c.800G>A c.(799-801)gGa>gAa p.G267E FOLH1_ENST00000356696.3_Missense_Mutation_p.G282E|FOLH1_ENST00000533034.1_Missense_Mutation_p.G267E|FOLH1_ENST00000256999.2_Missense_Mutation_p.G282E|FOLH1_ENST00000343844.4_5'UTR NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 282 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) CTCTGCAATTCCACGCCTATA 0.353000 9 86 0 0 0.010729 0 0 NKX2-2 4821 broad.mit.edu 37 20 21494126 21494126 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:21494126A>G ENST00000377142.4 - 1 538 c.182T>C c.(181-183)cTg>cCg p.L61P NM_002509.3 NP_002500.1 O95096 NKX22_HUMAN NK2 homeobox 2 61 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 GGGGTTCTTCAGGGGCAGGCT 0.677000 10 21 0 0 0.006214 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519169 113519169 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:113519169C>T ENST00000284601.3 - 4 2046 c.1978G>A c.(1978-1980)Gaa>Aaa p.E660K NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 660 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 CCCTGACTTTCCAGAACATTC 0.368000 23 89 0 0 0.014323 0 0 CSNK2A1 1457 broad.mit.edu 37 20 468211 468211 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:468211C>T ENST00000217244.3 - 12 1208 c.833G>A c.(832-834)cGa>cAa p.R278Q CSNK2A1_ENST00000349736.5_Missense_Mutation_p.R278Q|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.R278Q|CSNK2A1_ENST00000400217.1_Missense_Mutation_p.R142Q NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide 278 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity p.R278Q(1) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) CCATCGCTTTCGAGAGTGTCT 0.507000 9 56 0 0 0.008291 0 0 GALNT15 117248 broad.mit.edu 37 3 16216774 16216774 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:16216774C>T ENST00000339732.5 + 1 619 c.116C>T c.(115-117)aCc>aTc p.T39I GALNT15_ENST00000437509.1_Missense_Mutation_p.T39I NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 CCCCACCACACCCTGCACCAG 0.597000 16 60 0 0 0.003163 0 0 OR6K6 128371 broad.mit.edu 37 1 158725001 158725001 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:158725001C>T ENST00000368144.2 + 1 492 c.396C>T c.(394-396)ttC>ttT p.F132F NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 132 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) TGTACTTTTTCCACTCACTTG 0.493000 14 56 0 0 0.002450 0 0 STK31 56164 broad.mit.edu 37 7 23825160 23825160 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:23825160G>A ENST00000354639.3 + 18 2607 c.2143G>A c.(2143-2145)Gaa>Aaa p.E715K STK31_ENST00000433467.2_Missense_Mutation_p.E738K|STK31_ENST00000428484.1_Missense_Mutation_p.E715K|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.E738K NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 738 Protein kinase. Y -> C (in Ref. 2; AAK17193). ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 GCCCATGAAGGAACTTAGCAG 0.418000 20 86 0 0 0.012319 0 0 BRINP3 339479 broad.mit.edu 37 1 190250722 190250722 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:190250722C>T ENST00000367462.3 - 3 626 c.395G>A c.(394-396)gGg>gAg p.G132E RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Intron NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 132 extracellular region p.G132E(1) 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) GAAATGTGTCCCATATTTCTT 0.453000 14 40 0 0 0.003163 0 0 CYP7B1 9420 broad.mit.edu 37 8 65517309 65517309 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:65517309C>T ENST00000310193.3 - 5 1336 c.1163G>A c.(1162-1164)cGa>cAa p.R388Q CYP7B1_ENST00000523954.1_5'UTR NM_004820.3 NP_004811.1 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, polypeptide 1 388 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) GTCTCCCTTTCGCACACAGTA 0.453000 25 51 0 0 0.007291 0 0 GRIK3 2899 broad.mit.edu 37 1 37337848 37337848 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:37337848G>A ENST00000373091.3 - 4 689 c.673C>T c.(673-675)Cgg>Tgg p.R225W GRIK3_ENST00000373093.4_Missense_Mutation_p.R225W NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 225 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CGGAATTCCCGGCCTCGCTTC 0.592000 16 31 0 0 0.004990 0 0 OR4S1 256148 broad.mit.edu 37 11 48328680 48328680 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:48328680C>T ENST00000319988.1 + 1 906 c.906C>T c.(904-906)gtC>gtT p.V302V NM_001004725.1 NP_001004725.1 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, member 1 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 TGTTTAGGGTCAAGAGGAGCT 0.418000 13 15 0 0 0.001855 0 0 ST18 9705 broad.mit.edu 37 8 53073993 53073993 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:53073993G>A ENST00000276480.7 - 14 2219 c.1536C>T c.(1534-1536)ttC>ttT p.F512F NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 512 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 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) GGCGTTTACCGAAAACTTGGG 0.438000 11 60 0 0 0.010729 0 0 TMPPE 643853 broad.mit.edu 37 3 33135527 33135527 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:33135527G>A ENST00000342462.4 - 2 351 c.161C>T c.(160-162)tCg>tTg p.S54L GLB1_ENST00000307363.5_Intron|TMPPE_ENST00000416695.2_Intron|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307377.8_Intron|GLB1_ENST00000445488.2_Intron NM_001039770.2 NP_001034859.2 Q6ZT21 TMPPE_HUMAN transmembrane protein with metallophosphoesterase domain 54 integral to membrane metal ion binding breast(1)|large_intestine(5)|lung(6)|prostate(1) 13 GAGCAAGAGCGAGTTGACAAA 0.572000 6 18 0 0 0.003080 0 0 BEND2 139105 broad.mit.edu 37 X 18221903 18221903 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:18221903G>A ENST00000380033.4 - 5 757 c.625C>T c.(625-627)Ccc>Tcc p.P209S BEND2_ENST00000380030.3_Missense_Mutation_p.P209S NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 209 p.E204fs*66(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 ACAATTCTGGGATATGATAAA 0.488000 51 33 0 0 0.014410 0 0 SEZ6L 23544 broad.mit.edu 37 22 26688885 26688885 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:26688885C>T ENST00000529632.2 + 2 804 c.608C>T c.(607-609)tCc>tTc p.S203F SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.S203F|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S203F|SEZ6L_ENST00000248933.6_Missense_Mutation_p.S203F|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.S203F 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 203 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 CTGCAAATCTCCCCCTTCACT 0.667000 16 81 0 0 0.006122 0 0 NBEAL1 65065 broad.mit.edu 37 2 204031988 204031988 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:204031988C>T ENST00000449802.1 + 37 6148 c.5815C>T c.(5815-5817)Cga>Tga p.R1939* NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 1939 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TTCTCAAATTCGAGAGATTCA 0.368000 112 215 0 0 0.014410 0 0 NEUROD4 58158 broad.mit.edu 37 12 55420921 55420921 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:55420921G>A ENST00000242994.3 + 2 1076 c.698G>A c.(697-699)gGa>gAa p.G233E NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 233 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 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 AAGAGTTTGGGAGAATCGTCC 0.517000 42 17 0 0 0.008740 0 0 PKHD1 5314 broad.mit.edu 37 6 51935805 51935805 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:51935805G>A ENST00000371117.3 - 9 941 c.667_splice c.e9+1 p.I222_splice PKHD1_ENST00000340994.4_Splice_Site_p.I222_splice NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 222 IPT/TIG 2. I -> V (in ARPKD). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CTAACAGACCGATGTAGTCGC 0.403000 13 81 0 0 0.001855 0 0 COL1A2 1278 broad.mit.edu 37 7 94051242 94051242 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:94051242G>A ENST00000297268.6 + 39 2852 c.2381G>A c.(2380-2382)cGg>cAg p.R794Q NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 794 Missing (in OI2A). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GCTGCTGGACGGACTGGTCCC 0.458000 HNSCC(75;0.22) 11 49 0 0 0.001855 0 0 SELE 6401 broad.mit.edu 37 1 169698761 169698761 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:169698761G>A ENST00000333360.7 - 6 908 c.769C>T c.(769-771)Caa>Taa p.Q257* SELE_ENST00000367776.1_Nonsense_Mutation_p.Q257*|SELE_ENST00000367777.1_Nonsense_Mutation_p.Q257*|SELE_ENST00000367779.4_Nonsense_Mutation_p.Q257*|SELE_ENST00000367775.1_Nonsense_Mutation_p.Q195*|SELE_ENST00000367780.4_Nonsense_Mutation_p.Q195*|SELE_ENST00000367774.1_Nonsense_Mutation_p.Q257*|SELE_ENST00000367782.4_Nonsense_Mutation_p.Q257*|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Nonsense_Mutation_p.Q257* NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 257 Sushi 2. Q -> P (in dbSNP:rs3917422). actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) CCAGGGTTTTGGAAACATTCC 0.438000 34 81 0 0 0.004289 0 0 ITPRIPL2 162073 broad.mit.edu 37 16 19126433 19126433 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:19126433C>T ENST00000381440.3 + 1 1180 c.650C>T c.(649-651)cCa>cTa p.P217L CTD-2349B8.1_ENST00000564808.2_Intron NM_001034841.3 NP_001030013.1 Q3MIP1 IPIL2_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 2 217 integral to membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 CCACCCTCACCATCGGGGGCC 0.697000 OREG0023657 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 28 0 0 0.004007 0 0 GRIA1 2890 broad.mit.edu 37 5 153190777 153190777 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:153190777G>A ENST00000285900.5 + 16 3056 c.2713G>A c.(2713-2715)Gga>Aga p.G905R GRIA1_ENST00000521843.2_Missense_Mutation_p.G836R|GRIA1_ENST00000518142.1_Missense_Mutation_p.G825R|GRIA1_ENST00000340592.5_Missense_Mutation_p.G905R|GRIA1_ENST00000518783.1_Missense_Mutation_p.G915R|GRIA1_ENST00000448073.4_Missense_Mutation_p.G915R NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 905 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GGGAGCCACGGGATTGTAACT 0.557000 5 18 0 0 0.003080 0 0 MAPK13 5603 broad.mit.edu 37 6 36106768 36106768 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:36106768G>A ENST00000211287.4 + 11 1216 c.954G>A c.(952-954)acG>acA p.T318T MAPK13_ENST00000373766.5_3'UTR|MAPK13_ENST00000373761.6_Silent_p.T308T|MAPK13_ENST00000373759.1_3'UTR NM_002754.4 NP_002745.1 O15264 MK13_HUMAN mitogen-activated protein kinase 13 318 cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress ATP binding|MAP kinase activity|protein binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1) 12 AGGAAGAGACGGAGGCCCAGC 0.602000 10 47 0 0 0.013537 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140712038 140712038 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140712038G>A ENST00000517417.1 + 1 1787 c.1787G>A c.(1786-1788)aGa>aAa p.R596K PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R596K NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGGTGGACAGAGACTCGGGC 0.697000 6 34 0 0 0.001168 0 0 LDLRAD3 143458 broad.mit.edu 37 11 36248875 36248875 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:36248875C>T ENST00000315571.5 + 5 716 c.695C>T c.(694-696)aCc>aTc p.T232I LDLRAD3_ENST00000524419.1_Missense_Mutation_p.T222I|LDLRAD3_ENST00000528989.1_Missense_Mutation_p.T183I|LDLRAD3_ENST00000529759.1_3'UTR NM_174902.2 NP_777562.1 Q86YD5 LRAD3_HUMAN low density lipoprotein receptor class A domain containing 3 232 integral to membrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1) 28 all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177) all_hematologic(20;0.124) TGCAACGTCACCTACAACGTC 0.627000 16 52 0 0 0.007413 0 0 ANK2 287 broad.mit.edu 37 4 114278605 114278605 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:114278605C>T ENST00000357077.4 + 38 8884 c.8831C>T c.(8830-8832)aCc>aTc p.T2944I ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.T2911I|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2911 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GAAAGCAAAACCCAAACAGAT 0.408000 49 33 0 0 0.014410 0 0 NCF4 4689 broad.mit.edu 37 22 37273719 37273719 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:37273719G>A ENST00000248899.6 + 10 1058 c.874G>A c.(874-876)Ggg>Agg p.G292R NCF4_ENST00000397147.4_3'UTR NM_000631.4 NP_000622.2 Q15080 NCF4_HUMAN neutrophil cytosolic factor 4, 40kDa 292 cell communication|immune response|oxidation-reduction process cytosol|NADPH oxidase complex phosphatidylinositol binding|protein dimerization activity cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 GGACGCTGAGGGGGATCTGGT 0.602000 14 42 0 0 0.003163 0 0 OTX2 5015 broad.mit.edu 37 14 57268766 57268766 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:57268766C>T ENST00000339475.5 - 5 857 c.581G>A c.(580-582)aGt>aAt p.S194N OTX2_ENST00000555006.1_Missense_Mutation_p.S186N|OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000408990.3_Missense_Mutation_p.S186N NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3 NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1 P32243 OTX2_HUMAN orthodenticle homeobox 2 186 axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway growth cone|nucleus|protein complex eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 19 Medulloblastoma(1;0.00184)|all_neural(1;0.00414) ATATCCTTGACTATAACCTGA 0.537000 28 30 0 0 0.005443 0 0 FAM73A 374986 broad.mit.edu 37 1 78272765 78272765 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:78272765C>T ENST00000370791.3 + 5 648 c.616C>T c.(616-618)Cca>Tca p.P206S FAM73A_ENST00000443751.2_Missense_Mutation_p.P168S NM_001270384.1|NM_198549.3 NP_001257313.1|NP_940951.1 Q8NAN2 FA73A_HUMAN family with sequence similarity 73, member A 206 integral to membrane breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 19 Colorectal(170;0.226) TGTGACTACTCCAGAGAACTT 0.333000 23 50 0 0 0.004656 0 0 ITGA4 3676 broad.mit.edu 37 2 182399556 182399556 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:182399556G>A ENST00000397033.2 + 27 3327 c.2897G>A c.(2896-2898)gGa>gAa p.G966E NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 966 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) CTACTGGAAGGACTACATCAT 0.323000 13 40 0 0 0.004007 0 0 DNAH6 1768 broad.mit.edu 37 2 84811170 84811170 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:84811170G>A ENST00000389394.3 + 15 2414 c.2277G>A c.(2275-2277)aaG>aaA p.K759K DNAH6_ENST00000398278.2_Silent_p.K759K|DNAH6_ENST00000237449.6_Silent_p.K759K NM_001370.1 NP_001361.1 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy chain 6 759 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 AAATGTACAAGCTTATGGAAC 0.383000 24 46 0 0 0.002780 0 0 NCF2 4688 broad.mit.edu 37 1 183546838 183546838 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:183546838C>T ENST00000413720.1 - 3 536 c.262G>A c.(262-264)Gat>Aat p.D88N NCF2_ENST00000367536.1_Missense_Mutation_p.D88N|NCF2_ENST00000418089.1_Missense_Mutation_p.D88N|NCF2_ENST00000367535.3_Missense_Mutation_p.D88N NM_001190794.1 NP_001177723.1 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 88 cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 ATAGCCAAATCATATCTGCAG 0.443000 34 64 0 0 0.003271 0 0 LRP1 4035 broad.mit.edu 37 12 57604507 57604507 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:57604507C>T ENST00000243077.3 + 83 13227 c.12761C>T c.(12760-12762)cCc>cTc p.P4254L NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4254 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) CCAGGCATGCCCACGTGCCGG 0.657000 52 40 0 0 0.014410 0 0 OR2Y1 134083 broad.mit.edu 37 5 180166621 180166621 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:180166621G>A ENST00000307832.2 - 1 478 c.438C>T c.(436-438)atC>atT p.I146I NM_001001657.1 NP_001001657.1 Q8NGV0 OR2Y1_HUMAN olfactory receptor, family 2, subfamily Y, member 1 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCAGGAGGCGATAGCCAGGG 0.572000 7 15 0 0 0.004482 0 0 HDAC9 9734 broad.mit.edu 37 7 18624924 18624924 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:18624924C>T ENST00000406451.3 + 3 193 c.43C>T c.(43-45)Cct>Tct p.P15S HDAC9_ENST00000406072.1_Missense_Mutation_p.P43S|HDAC9_ENST00000417496.2_Missense_Mutation_p.P57S|HDAC9_ENST00000524023.1_5'UTR|HDAC9_ENST00000428307.2_Missense_Mutation_p.P15S|HDAC9_ENST00000441542.2_Missense_Mutation_p.P15S|HDAC9_ENST00000401921.1_Missense_Mutation_p.P15S|HDAC9_ENST00000456174.2_5'UTR|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000405010.3_Missense_Mutation_p.P15S|HDAC9_ENST00000432645.2_Missense_Mutation_p.P15S NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 15 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|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 binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) GTCAGAAGTTCCTGTGGGCCT 0.478000 28 147 0 0 0.012213 0 0 PAPPA 5069 broad.mit.edu 37 9 119065059 119065059 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:119065059C>T ENST00000328252.3 + 10 3346 c.2977C>T c.(2977-2979)Cat>Tat p.H993Y PAPPA_ENST00000534838.1_Missense_Mutation_p.H31Y|RP11-45A16.4_ENST00000451100.1_RNA NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 993 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 GTGCTATTTCCATGATGGTGA 0.453000 16 32 0 0 0.004990 0 0 WASF3 10810 broad.mit.edu 37 13 27216450 27216450 + Silent SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:27216450C>A ENST00000361042.4 + 3 268 c.43C>A c.(43-45)Cgg>Agg p.R15R WASF3_ENST00000335327.5_Silent_p.R15R|WASF3_ENST00000496788.1_3'UTR Q9UPY6 WASF3_HUMAN WAS protein family, member 3 15 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) GCACTTGTGCCGGGGAGCTCT 0.448000 23 51 4.72057e-08 5.14567e-08 0.003954 1 0 GGH 8836 broad.mit.edu 37 8 63927919 63927919 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:63927919G>A ENST00000260118.6 - 9 1331 c.929C>T c.(928-930)tCa>tTa p.S310L NM_003878.2 NP_003869.1 Q92820 GGH_HUMAN gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) 310 Gamma-glutamyl hydrolase. glutamine metabolic process extracellular space|lysosome|melanosome gamma-glutamyl-peptidase activity breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1) 11 Breast(64;0.0716) all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131) Folic Acid(DB00158)|L-Glutamic Acid(DB00142) TTGCTGAAATGAAGAAATATT 0.303000 4 23 0 0 0.000602 0 0 KIF3C 3797 broad.mit.edu 37 2 26151896 26151896 + Missense_Mutation SNP G G A rs13030360 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:26151896G>A ENST00000264712.3 - 8 2912 c.2333C>T c.(2332-2334)tCc>tTc p.S778F KIF3C_ENST00000405914.1_Missense_Mutation_p.S778F NM_002254.6 NP_002245.4 O14782 KIF3C_HUMAN kinesin family member 3C 778 Globular (Potential). 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) AGAGGCCAGGGAGGCATGTGT 0.607000 31 61 0 0 0.005524 0 0 CAMK1D 57118 broad.mit.edu 37 10 12803023 12803023 + Missense_Mutation SNP C C T rs143417427 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:12803023C>T ENST00000378847.3 + 4 713 c.376C>T c.(376-378)Cgc>Tgc p.R126C CAMK1D_ENST00000378845.1_Missense_Mutation_p.R126C NM_153498.2 NP_705718.1 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 126 Protein kinase. calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity p.R126S(2) endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) CACTCTGATCCGCCAAGTCTT 0.527000 38 118 0 0 0.011902 0 0 POU6F2 11281 broad.mit.edu 37 7 39503873 39503873 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:39503873T>C ENST00000559001.1 + 8 1600 c.1499T>C c.(1498-1500)cTt>cCt p.L500P POU6F2_ENST00000403058.1_Missense_Mutation_p.L555P|POU6F2_ENST00000518318.2_Intron P78424 PO6F2_HUMAN POU class 6 homeobox 2 555 POU-specific. L -> M (in dbSNP:rs4992268). 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 AACCCTGGCCTTTTGTATCCT 0.547000 31 77 0 0 0.012213 0 0 BRD7 29117 broad.mit.edu 37 16 50402112 50402112 + Silent SNP G G A rs145220538 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:50402112G>A ENST00000394688.3 - 2 306 c.147C>T c.(145-147)ttC>ttT p.F49F BRD7_ENST00000401491.3_5'UTR|BRD7_ENST00000394689.2_Silent_p.F49F Q9NPI1 BRD7_HUMAN bromodomain containing 7 49 Lys-rich. cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleus histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2) 22 all_cancers(37;0.0127) TTTTGTCTTCGAAGAGGCTGG 0.498000 21 84 0 0 0.014323 0 0 ZFP14 57677 broad.mit.edu 37 19 36832048 36832048 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:36832048G>A ENST00000270001.7 - 5 795 c.680C>T c.(679-681)cCc>cTc p.P227L NM_020917.2 NP_065968.1 Q9HCL3 ZFP14_HUMAN ZFP14 zinc finger protein 227 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 26 Esophageal squamous(110;0.162) ACATTCATAGGGTTTCTCACC 0.438000 13 35 0 0 0.013537 0 0 BPTF 2186 broad.mit.edu 37 17 65907764 65907764 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:65907764C>T ENST00000321892.4 + 13 4203 c.4142C>T c.(4141-4143)tCa>tTa p.S1381L BPTF_ENST00000424123.3_Missense_Mutation_p.S1242L|BPTF_ENST00000306378.6_Missense_Mutation_p.S1255L|BPTF_ENST00000335221.5_Missense_Mutation_p.S1381L Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1381 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) GCTTTACATTCATCAGTGCCT 0.408000 43 20 0 0 0.007835 0 0 PDE7B 27115 broad.mit.edu 37 6 136495007 136495007 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:136495007C>T ENST00000308191.6 + 9 1087 c.784C>T c.(784-786)Cat>Tat p.H262Y RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA NM_018945.3 NP_061818.1 Q9NP56 PDE7B_HUMAN phosphodiesterase 7B 262 Catalytic (By similarity). signal transduction|synaptic transmission cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Colorectal(23;0.24) OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147) Dyphylline(DB00651)|Ketotifen(DB00920) GCTTCTTGCTCATTTGCCAAA 0.418000 14 45 0 0 0.003163 0 0 DEF6 50619 broad.mit.edu 37 6 35277517 35277517 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:35277517G>A ENST00000316637.5 + 2 172 c.167G>A c.(166-168)cGa>cAa p.R56Q DEF6_ENST00000542066.1_5'UTR NM_022047.3 NP_071330.3 Q9H4E7 DEFI6_HUMAN differentially expressed in FDCP 6 homolog (mouse) 56 cytoplasm|nucleus|plasma membrane cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 15 GAACACTTCCGAGATGATGAT 0.572000 16 38 0 0 0.004007 0 0 PHKG2 5261 broad.mit.edu 37 16 30762575 30762575 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:30762575C>T ENST00000563588.1 + 3 483 c.244C>T c.(244-246)Cgc>Tgc p.R82C RP11-2C24.4_ENST00000483578.1_lincRNA|PHKG2_ENST00000424889.3_Missense_Mutation_p.R82C|PHKG2_ENST00000328273.7_Missense_Mutation_p.R82C NM_000294.2 NP_000285.1 P15735 PHKG2_HUMAN phosphorylase kinase, gamma 2 (testis) 82 Protein kinase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity ovary(1)|skin(1) 2 Colorectal(24;0.198) ACACATCCTTCGCCAGGTCGC 0.622000 20 24 0 0 0.014323 0 0 SYT16 83851 broad.mit.edu 37 14 62536387 62536387 + Missense_Mutation SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:62536387A>C ENST00000430451.2 + 2 787 c.590A>C c.(589-591)cAa>cCa p.Q197P RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Missense_Mutation_p.Q197P NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 197 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GTGATCAAACAATTTGAGATT 0.488000 52 68 0 0 0.014410 0 0 KRT28 162605 broad.mit.edu 37 17 38950178 38950178 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:38950178C>T ENST00000306658.7 - 6 1164 c.1099G>A c.(1099-1101)Gag>Aag p.E367K NM_181535.3 NP_853513.2 Q7Z3Y7 K1C28_HUMAN keratin 28 367 Coil 2.|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) TTCTGGCCCTCGGTCTCGGTT 0.552000 90 64 0 0 0.014410 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52115667 52115667 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:52115667C>T ENST00000222107.4 - 9 1611 c.1473G>A c.(1471-1473)agG>agA p.R491R SIGLEC5_ENST00000599649.1_Silent_p.R491R|SIGLEC5_ENST00000534261.2_Silent_p.R491R|SIGLEC5_ENST00000570106.2_Silent_p.R491R|SIGLEC5_ENST00000429354.3_Silent_p.R491R O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 491 cell adhesion integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) AGGGCTTCTTCCTGGAACCCT 0.483000 24 46 0 0 0.014323 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204228696 204228696 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:204228696G>A ENST00000272203.3 - 8 1013 c.697C>T c.(697-699)Ccg>Tcg p.P233S PLEKHA6_ENST00000414478.1_Missense_Mutation_p.P253S NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 233 Pro-rich. breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) GCTTTCACCGGAGGCTCTTTC 0.647000 19 45 0 0 0.014323 0 0 PGBD1 84547 broad.mit.edu 37 6 28264676 28264676 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:28264676C>T ENST00000405948.2 + 5 1146 c.726C>T c.(724-726)ctC>ctT p.L242L PGBD1_ENST00000259883.3_Silent_p.L242L NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 242 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 GGAGGAACCTCTGTGGGAACT 0.512000 23 49 0 0 0.003954 0 0 ATP4A 495 broad.mit.edu 37 19 36050758 36050758 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:36050758G>A ENST00000262623.3 - 7 1033 c.1005C>T c.(1003-1005)ttC>ttT p.F335F NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 335 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) CGATGGCCATGAAGAAGACCA 0.602000 6 27 0 0 0.001168 0 0 CACNA2D3 55799 broad.mit.edu 37 3 55108198 55108198 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:55108198C>T ENST00000474759.1 + 38 3289 c.3241C>T c.(3241-3243)Ctg>Ttg p.L1081L CACNA2D3_ENST00000415676.2_Silent_p.L1081L|CACNA2D3_ENST00000490478.1_Silent_p.L987L|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000288197.5_Silent_p.L1081L NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 1081 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) AGTCCTCCTTCTGCTCCCTCT 0.502000 31 78 0 0 0.004878 0 0 GTPBP1 9567 broad.mit.edu 37 22 39120355 39120355 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:39120355C>T ENST00000216044.5 + 6 1245 c.1012C>T c.(1012-1014)Ccc>Tcc p.P338S NM_004286.4 NP_004277.2 O00178 GTPB1_HUMAN GTP binding protein 1 338 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 18 Melanoma(58;0.04) CCGGAAGATCCCCGTGCTGGT 0.537000 9 47 0 0 0.008291 0 0 APOB 338 broad.mit.edu 37 2 21230801 21230801 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:21230801G>A ENST00000233242.1 - 26 9066 c.8939C>T c.(8938-8940)tCc>tTc p.S2980F NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2980 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) AAAGTTGAGGGAGCCAGATTC 0.428000 95 356 0 0 0.014410 0 0 SNX27 81609 broad.mit.edu 37 1 151638458 151638458 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:151638458C>T ENST00000368843.3 + 6 1076 c.956C>T c.(955-957)gCc>gTc p.A319V SNX27_ENST00000482791.1_3'UTR|SNX27_ENST00000458013.2_Missense_Mutation_p.A319V|SNX27_ENST00000368838.1_Missense_Mutation_p.A226V NM_030918.5 NP_112180.4 Q96L92 SNX27_HUMAN sorting nexin family member 27 319 Ras-associating. cell communication|protein transport|signal transduction cytosol|early endosome phosphatidylinositol binding|protein binding central_nervous_system(1)|large_intestine(2)|ovary(2) 5 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) AATTACTTTGCCTTATTTGAA 0.373000 18 31 0 0 0.014323 0 0 NMNAT3 349565 broad.mit.edu 37 3 139297758 139297758 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:139297758C>T ENST00000406164.1 - 4 701 c.138G>A c.(136-138)tgG>tgA p.W46* RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000339837.5_Nonsense_Mutation_p.W46*|NMNAT3_ENST00000413939.2_Intron|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000511444.1_Nonsense_Mutation_p.W46*|NMNAT3_ENST00000512391.1_Nonsense_Mutation_p.W83*|NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000296202.7_Nonsense_Mutation_p.W83* Q96T66 NMNA3_HUMAN nicotinamide nucleotide adenylyltransferase 3 83 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 GCTCACTCTCCCAAGGGTCCA 0.592000 17 22 0 0 0.006122 0 0 ATP8B3 148229 broad.mit.edu 37 19 1802530 1802530 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:1802530C>T ENST00000539485.1 - 11 1252 c.1019G>A c.(1018-1020)aGg>aAg p.R340K ATP8B3_ENST00000525591.1_Missense_Mutation_p.R287K|ATP8B3_ENST00000526092.1_Missense_Mutation_p.R287K|ATP8B3_ENST00000310127.6_Missense_Mutation_p.R340K O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 340 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTTGCGAATCCTGCAGCCTCG 0.562000 5 25 0 0 0.000602 0 0 IGHV1-8 28472 broad.mit.edu 37 14 106539350 106539350 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:106539350C>T ENST00000390599.2 - 0 141 CACCTCAGCCCCAGACTGCAC 0.542000 35 20 0 0 0.008740 0 0 PRPF8 10594 broad.mit.edu 37 17 1579318 1579318 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:1579318C>T ENST00000572621.1 - 17 2848 c.2583G>A c.(2581-2583)agG>agA p.R861R PRPF8_ENST00000304992.6_Silent_p.R861R Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 861 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) CTAGCTCCTCCCTCTGAGACT 0.537000 7 15 0 0 0.001984 0 0 RGPD4 285190 broad.mit.edu 37 2 108487731 108487731 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:108487731G>A ENST00000408999.3 + 20 3348 c.3271G>A c.(3271-3273)Gag>Aag p.E1091K RGPD4_ENST00000354986.4_Missense_Mutation_p.E1091K NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1091 RanBD1 1. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TCTCAAAAACGAGGTCAATGG 0.408000 85 284 0 0 0.014410 0 0 ASNS 440 broad.mit.edu 37 7 97488238 97488238 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:97488238G>A ENST00000175506.4 - 7 1231 c.703C>T c.(703-705)Ctc>Ttc p.L235F ASNS_ENST00000394308.3_Missense_Mutation_p.L235F|ASNS_ENST00000444334.1_Missense_Mutation_p.L214F|ASNS_ENST00000437628.1_Missense_Mutation_p.L152F|ASNS_ENST00000422745.1_Missense_Mutation_p.L214F|ASNS_ENST00000455086.1_Missense_Mutation_p.L152F|ASNS_ENST00000394309.3_Missense_Mutation_p.L235F NM_183356.3 NP_899199.2 P08243 ASNS_HUMAN asparagine synthetase (glutamine-hydrolyzing) 235 Asparagine synthetase. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) AGGATCCTGAGGTTGTTCTTC 0.338000 33 70 0 0 0.004289 0 0 DNAH7 56171 broad.mit.edu 37 2 196681402 196681402 + Silent SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:196681402A>G ENST00000312428.6 - 51 9811 c.9711T>C c.(9709-9711)ctT>ctC p.L3237L NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3237 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 ACAGGATGAAAAGGTTAATAA 0.328000 4 30 0 0 0.000602 0 0 TNC 3371 broad.mit.edu 37 9 117819660 117819660 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:117819660G>A ENST00000350763.4 - 15 4762 c.4351C>T c.(4351-4353)Ccc>Tcc p.P1451S TNC_ENST00000542877.1_Missense_Mutation_p.P1087S|TNC_ENST00000340094.3_Missense_Mutation_p.P1087S|TNC_ENST00000535648.1_Missense_Mutation_p.P1087S|TNC_ENST00000345230.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000423613.2_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.P1360S NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1451 Fibronectin type-III 10. 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 AAGCTCTCGGGAGTTATGTCA 0.388000 38 147 0 0 0.011902 0 0 SSPO 23145 broad.mit.edu 37 7 149483309 149483309 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:149483309G>A ENST00000378016.2 + 0 3377 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTCTGGGATGGAGATCAGGCC 0.637000 4 7 0 0 0.001168 0 0 MUC16 94025 broad.mit.edu 37 19 9070394 9070394 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9070394C>T ENST00000397910.4 - 3 17255 c.17052G>A c.(17050-17052)acG>acA p.T5684T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5686 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 GAGGTGAACTCGTTACGGGCT 0.502000 9 13 0 0 0.008291 0 0 ALOX12B 242 broad.mit.edu 37 17 7980338 7980338 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:7980338C>T ENST00000319144.4 - 9 1505 c.1245G>A c.(1243-1245)agG>agA p.R415R ALOX12B_ENST00000577351.1_5'UTR NM_001139.2 NP_001130.1 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 415 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 TGGGCAGGTTCCTCAGCAAGG 0.632000 Multiple Myeloma(8;0.094) 7 8 0 0 0.003080 0 0 ACAN 176 broad.mit.edu 37 15 89400802 89400802 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:89400802G>A ENST00000439576.2 + 12 5360 c.4986G>A c.(4984-4986)gtG>gtA p.V1662V ACAN_ENST00000352105.7_Silent_p.V1662V|ACAN_ENST00000559004.1_Silent_p.V1662V|ACAN_ENST00000561243.1_Silent_p.V1662V NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1662 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) TTTCCCTAGTGGATTCTACAT 0.527000 10 92 0 0 0.006214 0 0 OR52B2 255725 broad.mit.edu 37 11 6190735 6190735 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:6190735G>A ENST00000530810.1 - 1 903 c.822C>T c.(820-822)gtC>gtT p.V274V RP11-290F24.3_ENST00000529961.1_RNA NM_001004052.1 NP_001004052.1 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, member 2 274 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCAAGATATGGACATGTTGAG 0.463000 15 27 0 0 0.003163 0 0 TAS2R40 259286 broad.mit.edu 37 7 142919780 142919780 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:142919780C>T ENST00000408947.3 + 1 651 c.609C>T c.(607-609)ttC>ttT p.F203F NM_176882.1 NP_795363.1 P59535 T2R40_HUMAN taste receptor, type 2, member 40 203 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 Melanoma(164;0.059) TGGGGATCTTCGTTCCTCTGA 0.502000 28 45 0 0 0.007291 0 0 C1RL 51279 broad.mit.edu 37 12 7252533 7252533 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:7252533G>A ENST00000266542.4 - 4 672 c.580C>T c.(580-582)Cac>Tac p.H194Y C1RL_ENST00000545280.1_Missense_Mutation_p.H78Y|C1RL_ENST00000544702.1_Missense_Mutation_p.H194Y NM_016546.2 NP_057630.2 Q9NZP8 C1RL_HUMAN complement component 1, r subcomponent-like 194 complement activation, classical pathway|innate immune response|proteolysis serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TCCTGGCAGTGGTTCTGGACC 0.597000 27 16 0 0 0.009535 0 0 PHF20L1 51105 broad.mit.edu 37 8 133844532 133844532 + Silent SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:133844532T>A ENST00000395386.2 + 15 2096 c.1797T>A c.(1795-1797)tcT>tcA p.S599S PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Silent_p.S574S NM_016018.4 NP_057102.4 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 599 nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2) 15 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) GGTGCTCTTCTCCACTAACTC 0.393000 27 70 0 0 0.012213 0 0 PODXL 5420 broad.mit.edu 37 7 131195814 131195814 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:131195814C>T ENST00000541194.1 - 2 742 c.485G>A c.(484-486)gGg>gAg p.G162E PODXL_ENST00000537928.1_Missense_Mutation_p.G160E|PODXL_ENST00000378555.3_Missense_Mutation_p.G160E|PODXL_ENST00000322985.9_Missense_Mutation_p.G160E NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 160 Thr-rich. cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) GCTGCTTTTCCCCCCAGAGTT 0.522000 20 153 0 0 0.003330 0 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89100554 89100554 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:89100554C>T ENST00000393525.3 + 0 1089 gtatcttttcctGCTGTCTCT 0.338000 5 17 0 0 0.000602 0 0 NFKBIA 4792 broad.mit.edu 37 14 35872485 35872485 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:35872485G>A ENST00000216797.5 - 3 519 c.418C>T c.(418-420)Cga>Tga p.R140* NFKBIA_ENST00000557389.1_Nonsense_Mutation_p.R50*|NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557140.1_Nonsense_Mutation_p.R140* NM_020529.2 NP_065390.1 P25963 IKBA_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha 140 anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|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|I-kappaB/NF-kappaB complex|nucleus|plasma membrane identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding breast(3)|endometrium(1)|large_intestine(2)|liver(1) 7 Breast(36;0.0484)|Hepatocellular(127;0.158) Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891) GBM - Glioblastoma multiforme(112;0.0222) CGAAAGTCTCGGAGCTCAGGA 0.587000 13 67 0 0 0.003163 0 0 SCN3A 6328 broad.mit.edu 37 2 165984493 165984493 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:165984493C>T ENST00000360093.3 - 18 3532 c.3041G>A c.(3040-3042)gGa>gAa p.G1014E SCN3A_ENST00000409101.3_Missense_Mutation_p.G965E|SCN3A_ENST00000283254.7_Missense_Mutation_p.G1014E NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1014 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) ATAATCAATTCCCTTTTGCAT 0.363000 20 26 0 0 0.008871 0 0 SDK1 221935 broad.mit.edu 37 7 4304908 4304908 + Silent SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:4304908G>T ENST00000404826.2 + 45 6673 c.6534G>T c.(6532-6534)gcG>gcT p.A2178A SDK1_ENST00000466611.1_3'UTR|SDK1_ENST00000389531.3_Silent_p.A2158A NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 2178 cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GCTCCGAGGCGGGCGCGCAGC 0.721000 10 12 3.07112e-06 3.3368e-06 0.010729 1 0 OR5H1 26341 broad.mit.edu 37 3 97851849 97851849 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:97851849C>T ENST00000354565.2 + 1 308 c.308C>T c.(307-309)tCg>tTg p.S103L RP11-343D2.11_ENST00000508964.1_RNA NM_001005338.1 NP_001005338.1 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, member 1 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S103L(1) breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 CAGTTTTTTTCGTTTGCAATC 0.393000 44 92 0 0 0.011902 0 0 IL1F10 84639 broad.mit.edu 37 2 113832355 113832355 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:113832355C>T ENST00000393197.2 + 3 595 c.174C>T c.(172-174)ttC>ttT p.F58F IL1F10_ENST00000341010.2_Silent_p.F58F|IL1F10_ENST00000337569.3_Silent_p.F58F NM_032556.5 NP_115945.4 Q8WWZ1 IL1FA_HUMAN interleukin 1 family, member 10 (theta) 58 extracellular space cytokine activity|interleukin-1 receptor antagonist activity endometrium(1)|lung(6)|ovary(1) 8 TCCCCATTTTCCTGGGGATCC 0.582000 19 49 0 0 0.010504 0 0 SLC15A2 6565 broad.mit.edu 37 3 121613360 121613360 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:121613360C>T ENST00000489711.1 + 1 425 c.37C>T c.(37-39)Ctt>Ttt p.L13F SLC15A2_ENST00000295605.2_Missense_Mutation_p.L13F NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 13 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) CAAGGAAACTCTTTTTTCACC 0.483000 51 112 0 0 0.014410 0 0 GCSAML 148823 broad.mit.edu 37 1 247712513 247712513 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:247712513G>A ENST00000366491.2 + 4 517 c.20G>A c.(19-21)cGa>cAa p.R7Q GCSAML_ENST00000366488.4_Missense_Mutation_p.R7Q|GCSAML_ENST00000536561.1_Missense_Mutation_p.R7Q|GCSAML_ENST00000366489.1_Missense_Mutation_p.R7Q|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Missense_Mutation_p.E128K|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron germinal center-associated, signaling and motility-like TATCTCCTGCGAAAACTCAGG 0.463000 16 41 0 0 0.004007 0 0 TNR 7143 broad.mit.edu 37 1 175335252 175335252 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:175335252G>A ENST00000367674.1 - 11 2784 c.2076C>T c.(2074-2076)ctC>ctT p.L692L TNR_ENST00000263525.2_Silent_p.L692L NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 692 Fibronectin type-III 5. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.L692L(1) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CTGTCACCATGAGGTCTCGGG 0.517000 13 23 0 0 0.001855 0 0 DDX60 55601 broad.mit.edu 37 4 169158547 169158547 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:169158547C>T ENST00000393743.3 - 32 4592 c.4301G>A c.(4300-4302)gGg>gAg p.G1434E NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1434 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) TCCAGCAAACCCCATAGGATT 0.338000 8 15 0 0 0.006214 0 0 SLITRK4 139065 broad.mit.edu 37 X 142716900 142716900 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:142716900G>A ENST00000381779.4 - 2 2250 c.2025C>T c.(2023-2025)acC>acT p.T675T SLITRK4_ENST00000356928.1_Silent_p.T675T|SLITRK4_ENST00000338017.4_Silent_p.T675T NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 675 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) CTTTTTTATTGGTTTTGTGGT 0.483000 52 23 0 0 0.014410 0 0 DOCK3 1795 broad.mit.edu 37 3 51263190 51263190 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:51263190G>A ENST00000266037.9 + 15 1386 c.1363G>A c.(1363-1365)Gga>Aga p.G455R NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 455 DHR-1. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TTATGCAGATGGAGAAATCTT 0.428000 22 88 0 0 0.014323 0 0 HRG 3273 broad.mit.edu 37 3 186394836 186394836 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:186394836G>A ENST00000232003.4 + 7 822 c.741_splice c.e7-1 p.E248_splice NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 248 Cystatin 2. fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) CCTTTTCCAGGAACATGAGAA 0.453000 28 68 0 0 0.006320 0 0 NRG1 3084 broad.mit.edu 37 8 32472036 32472036 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:32472036C>T ENST00000341377.5 + 4 922 c.405C>T c.(403-405)atC>atT p.I135I NRG1_ENST00000287840.5_Silent_p.I135I|NRG1_ENST00000356819.4_Silent_p.I135I|NRG1_ENST00000287842.3_Silent_p.I135I|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000338921.4_Silent_p.I135I|NRG1_ENST00000521670.1_Silent_p.I135I|NRG1_ENST00000405005.2_Silent_p.I135I|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000523079.1_Silent_p.I135I Q02297 NRG1_HUMAN neuregulin 1 135 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) TTTCAGAGATCATCACTGGTA 0.418000 7 62 0 0 0.004482 0 0 ZNF536 9745 broad.mit.edu 37 19 31039022 31039022 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:31039022C>T ENST00000355537.3 + 4 2643 c.2496C>T c.(2494-2496)ttC>ttT p.F832F NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 832 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CTTCTCTGTTCATCAGGCCAG 0.587000 30 62 0 0 0.008361 0 0 WRN 7486 broad.mit.edu 37 8 31015025 31015025 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:31015025C>T ENST00000298139.5 + 33 4210 c.3961C>T c.(3961-3963)Cga>Tga p.R1321* NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 1321 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) TGATGTTATCCGAAACCCTCC 0.483000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 7 21 0 0 0.003080 0 0 OR5M11 219487 broad.mit.edu 37 11 56310459 56310459 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:56310459G>A ENST00000528616.2 - 1 298 c.275C>T c.(274-276)tCc>tTc p.S92F NM_001005245.1 NP_001005245.1 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, member 11 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 ACCAGCAAAGGAAATGGTCTT 0.433000 17 26 0 0 0.006122 0 0 GRIA3 2892 broad.mit.edu 37 X 122459987 122459987 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:122459987G>A ENST00000264357.5 + 4 911 c.619G>A c.(619-621)Gaa>Aaa p.E207K GRIA3_ENST00000371251.1_Missense_Mutation_p.E207K|GRIA3_ENST00000542149.1_Missense_Mutation_p.E207K|GRIA3_ENST00000541091.1_Missense_Mutation_p.E191K|GRIA3_ENST00000371256.5_Missense_Mutation_p.E207K NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 207 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) GCGCATCATTGAAGAAATGGA 0.438000 35 12 0 0 0.003271 0 0 FKBP9L 360132 broad.mit.edu 37 7 55752938 55752938 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:55752938C>T ENST00000455909.1 - 0 625 NR_027340.1|NR_027342.1 FK506 binding protein 9-like endometrium(1)|kidney(1)|lung(3) 5 CTCACCATTCCATATGAACAT 0.517000 4 21 0 0 0.000602 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1811274 1811274 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:1811274G>A ENST00000250894.4 + 13 1661 c.1504G>A c.(1504-1506)Gag>Aag p.E502K MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E496K NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 502 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 AGAAGAGGCGGAGGATGTAAG 0.607000 15 78 0 0 0.010504 0 0 WIPF1 7456 broad.mit.edu 37 2 175436886 175436886 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:175436886C>T ENST00000392547.2 - 5 746 c.647G>A c.(646-648)gGg>gAg p.G216E WIPF1_ENST00000392546.2_Missense_Mutation_p.G216E|WIPF1_ENST00000409415.3_Missense_Mutation_p.G216E|WIPF1_ENST00000409891.1_Missense_Mutation_p.G216E|WIPF1_ENST00000359761.3_Missense_Mutation_p.G216E|AC018890.6_ENST00000412835.1_RNA|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.G216E NM_003387.4 NP_003378.3 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 216 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 AGGAGTGGGCCCGGGGCTGGG 0.642000 17 85 0 0 0.010504 0 0 FAM179A 165186 broad.mit.edu 37 2 29245121 29245121 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:29245121G>A ENST00000379558.4 + 11 1809 c.1458G>A c.(1456-1458)tcG>tcA p.S486S FAM179A_ENST00000403861.2_Silent_p.S431S|FAM179A_ENST00000465300.1_3'UTR NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 486 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GGCCTTTCTCGAACCCGGAGC 0.572000 21 32 0 0 0.010504 0 0 HCN1 348980 broad.mit.edu 37 5 45396623 45396623 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:45396623C>T ENST00000303230.4 - 4 1258 c.1201G>A c.(1201-1203)Gat>Aat p.D401N NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 401 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 CTCGAAGAATCCAGAGACTGG 0.463000 4 15 0 0 0.001168 0 0 LRBA 987 broad.mit.edu 37 4 151203676 151203676 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:151203676C>T ENST00000535741.1 - 55 8715 c.8242G>A c.(8242-8244)Gaa>Aaa p.E2748K LRBA_ENST00000510413.1_Missense_Mutation_p.E2747K|LRBA_ENST00000357115.3_Missense_Mutation_p.E2759K|LRBA_ENST00000503716.1_5'UTR P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 2759 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) AGGCCGTTTTCATAGAATATG 0.458000 13 58 0 0 0.001855 0 0 SCGB1D2 10647 broad.mit.edu 37 11 62010826 62010826 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:62010826C>T ENST00000244926.3 + 2 219 c.121C>T c.(121-123)Ctg>Ttg p.L41L RP11-703H8.9_ENST00000529875.1_RNA NM_006551.3 NP_006542.1 O95969 SG1D2_HUMAN secretoglobin, family 1D, member 2 41 extracellular space binding breast(1)|endometrium(1)|lung(1) 3 TAGTGAACCTCTGTTCAAGTT 0.443000 23 46 0 0 0.004656 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140711178 140711178 + Silent SNP C C T rs148638556 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140711178C>T ENST00000517417.1 + 1 927 c.927C>T c.(925-927)ttC>ttT p.F309F PCDHGA1_ENST00000378105.3_Silent_p.F309F NM_018912.2 NP_061735.1 p.F309F(3) breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACTAGATTTCGAAGAATACA 0.373000 10 18 0 0 0.006214 0 0 BAG3 9531 broad.mit.edu 37 10 121429480 121429480 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:121429480C>T ENST00000369085.3 + 2 604 c.298C>T c.(298-300)Cat>Tat p.H100Y NM_004281.3 NP_004272.2 O95817 BAG3_HUMAN BCL2-associated athanogene 3 100 anti-apoptosis|apoptosis|protein folding cytosol endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) TCCTGTGCTCCATGAAGGCGC 0.637000 24 77 0 0 0.005443 0 0 IMPDH2 3615 broad.mit.edu 37 3 49065936 49065936 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:49065936G>A ENST00000326739.4 - 3 216 c.177C>T c.(175-177)atC>atT p.I59I NM_000884.2 NP_000875.2 P12268 IMDH2_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 2 59 GMP biosynthetic process|purine base metabolic process cytosol|nucleus IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157) TCTTAAGAGTGATTTTCTTGG 0.547000 8 56 0 0 0.004482 0 0 ASPRV1 151516 broad.mit.edu 37 2 70188488 70188488 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:70188488G>A ENST00000320256.4 - 1 909 c.333C>T c.(331-333)gtC>gtT p.V111V NM_152792.2 NP_690005.2 Q53RT3 APRV1_HUMAN aspartic peptidase, retroviral-like 1 111 protein maturation by peptide bond cleavage|skin development aspartic-type endopeptidase activity endometrium(3)|large_intestine(4)|lung(6)|ovary(1) 14 GGTTTGGGACGACATTGGCCC 0.572000 24 39 0 0 0.005443 0 0 HIVEP1 3096 broad.mit.edu 37 6 12163537 12163537 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:12163537C>T ENST00000379388.2 + 9 7332 c.7000C>T c.(7000-7002)Cct>Tct p.P2334S HIVEP1_ENST00000541134.1_Missense_Mutation_p.P199S NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 2334 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TGTAAGACTTCCTCCTGCTGC 0.468000 57 166 0 0 0.014410 0 0 PDE4C 5143 broad.mit.edu 37 19 18329177 18329177 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:18329177G>A ENST00000355502.3 - 14 2068 c.1197C>T c.(1195-1197)tcC>tcT p.S399S PDE4C_ENST00000594617.2_Silent_p.S399S|PDE4C_ENST00000262805.11_Silent_p.S367S|PDE4C_ENST00000539010.1_Silent_p.S168S|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000594465.2_Silent_p.S399S|PDE4C_ENST00000447275.2_Silent_p.S293S Q08493 PDE4C_HUMAN phosphodiesterase 4C, cAMP-specific 399 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) GCACATGCGTGGACTGGGCCA 0.662000 46 75 0 0 0.014410 0 0 ZNF836 162962 broad.mit.edu 37 19 52660524 52660524 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:52660524C>T ENST00000322146.8 - 5 933 c.412G>A c.(412-414)Gaa>Aaa p.E138K CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.E138K NM_001102657.1 NP_001096127.1 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 AGCTGATTTTCAATACATTTG 0.328000 7 18 0 0 0.001984 0 0 ZNF235 9310 broad.mit.edu 37 19 44792651 44792651 + Missense_Mutation SNP G G A rs144837895 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:44792651G>A ENST00000291182.4 - 5 1039 c.937C>T c.(937-939)Cgt>Tgt p.R313C ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron NM_004234.4 NP_004225.3 Q14590 ZN235_HUMAN zinc finger protein 235 313 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 Prostate(69;0.0352)|all_neural(266;0.116) TTCCCAGTACGAACACTTTGT 0.438000 28 47 0 0 0.007291 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110461427 110461427 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:110461427C>T ENST00000260283.4 - 12 1534 c.1250G>A c.(1249-1251)gGa>gAa p.G417E ARHGAP20_ENST00000357139.3_Missense_Mutation_p.G391E|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.G381E|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.G391E|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.G394E|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.G381E NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 417 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) TACTTCGACTCCAGAATTCAA 0.393000 11 19 0 0 0.013537 0 0 ARHGAP19-SLIT1 100533184 broad.mit.edu 37 10 98995003 98995003 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:98995003G>A ENST00000453547.2 - 9 1254 c.1255C>T c.(1255-1257)Cgt>Tgt p.R419C ARHGAP19_ENST00000358531.4_Missense_Mutation_p.R419C|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.R410C|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.R419C|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.R390C|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.R410C|ARHGAP19_ENST00000487035.1_5'UTR GAGCGCGAACGAGCCCTCTTT 0.398000 26 104 0 0 0.006320 0 0 DMRT3 58524 broad.mit.edu 37 9 990650 990650 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:990650C>T ENST00000190165.2 + 2 1102 c.1064C>T c.(1063-1065)gCt>gTt p.A355V NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 355 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) AGTCCCTTGGCTGGGCCTCTG 0.582000 27 34 0 0 0.013726 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161022330 161022330 + Silent SNP C C T rs150654338 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:161022330C>T ENST00000368013.3 - 8 1160 c.840G>A c.(838-840)agG>agA p.R280R ARHGAP30_ENST00000368016.3_Silent_p.R280R|ARHGAP30_ENST00000368015.1_Silent_p.R103R NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 280 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) AAGACCCCTTCCTCCTACAAA 0.537000 57 67 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179590212 179590212 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179590212C>T ENST00000589042.1 - 71 20943 c.20719G>A c.(20719-20721)Gaa>Aaa p.E6907K RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E5663K|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E6590K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6590 Ig-like 50. 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) GCAACATTTTCCACAAATGTA 0.418000 9 35 0 0 0.006214 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38146187 38146187 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:38146187G>A ENST00000317025.8 - 19 3836 c.3319C>T c.(3319-3321)Cct>Tct p.P1107S WHSC1L1_ENST00000527502.1_Missense_Mutation_p.P1107S|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.P1058S NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 1107 AWS. cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) AAGCCACAAGGGTTTTCATCA 0.493000 T NUP98 AML 22 58 0 0 0.014323 0 0 COL28A1 340267 broad.mit.edu 37 7 7529073 7529073 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:7529073C>T ENST00000399429.3 - 13 1251 c.1111G>A c.(1111-1113)Gaa>Aaa p.E371K NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 371 cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) GGTCTTCCTTCTTGGCCTCTT 0.383000 25 45 0 0 0.004656 0 0 SAFB2 9667 broad.mit.edu 37 19 5595504 5595504 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:5595504G>A ENST00000252542.4 - 14 2051 c.1787C>T c.(1786-1788)tCc>tTc p.S596F NM_014649.2 NP_055464.1 Q14151 SAFB2_HUMAN scaffold attachment factor B2 596 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) CTGACTCTTGGAGCTCTGTTT 0.418000 8 21 0 0 0.003080 0 0 VWA3B 200403 broad.mit.edu 37 2 98737762 98737762 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:98737762G>A ENST00000477737.1 + 5 747 c.542_splice c.e5-1 p.R181_splice VWA3B_ENST00000435344.1_Splice_Site_p.R181_splice|VWA3B_ENST00000451075.2_Splice_Site_p.M31_splice NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 181 R -> W (in dbSNP:rs2305355). NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TCCTTTTCAGGGTTTCTCAAG 0.522000 11 18 0 0 0.013537 0 0 XIRP2 129446 broad.mit.edu 37 2 168103357 168103357 + Missense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:168103357G>T ENST00000409195.1 + 9 5544 c.5455G>T c.(5455-5457)Gtt>Ttt p.V1819F XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V1597F|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V1819F NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1644 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 CACAGTTAAGGTTTTTATGAC 0.408000 10 63 0.00829132 0.0089504 0.008291 1 0 PPP1R3A 5506 broad.mit.edu 37 7 113519874 113519874 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:113519874C>T ENST00000284601.3 - 4 1341 c.1273G>A c.(1273-1275)Gat>Aat p.D425N NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 425 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 ACTAGTTCATCACTACTAGTA 0.423000 38 53 0 0 0.005524 0 0 SV2A 9900 broad.mit.edu 37 1 149879733 149879733 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:149879733G>A ENST00000369146.3 - 9 1895 c.1405C>T c.(1405-1407)Cct>Tct p.P469S SV2A_ENST00000369145.1_Missense_Mutation_p.P469S NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 469 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) ATCATGTCAGGAAACCAGACG 0.522000 38 82 0 0 0.011902 0 0 ZAK 51776 broad.mit.edu 37 2 174131021 174131021 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:174131021C>T ENST00000375213.3 + 20 2024 c.1946C>T c.(1945-1947)tCc>tTc p.S649F MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.S649F NM_016653.2 NP_057737.2 AACTTCTCTTCCCTACATCTC 0.483000 13 38 0 0 0.013537 0 0 OR9I1 219954 broad.mit.edu 37 11 57886005 57886005 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:57886005G>A ENST00000302610.1 - 1 911 c.912C>T c.(910-912)gtC>gtT p.V304V OR9Q1_ENST00000335397.3_Intron NM_001005211.1 NP_001005211.1 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, member 1 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V304V(1) endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1) 23 Breast(21;0.0589) GTCTCCTAGCGACCTTTCTGA 0.428000 51 83 0 0 0.014410 0 0 ABCC11 85320 broad.mit.edu 37 16 48261857 48261857 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:48261857G>A ENST00000394747.1 - 3 604 c.255C>T c.(253-255)ccC>ccT p.P85P ABCC11_ENST00000394748.1_Silent_p.P85P|ABCC11_ENST00000353782.5_Silent_p.P85P|ABCC11_ENST00000537808.1_Silent_p.P85P|ABCC11_ENST00000356608.2_Silent_p.P85P NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 85 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) CATTGTCCAGGGGCTGGGGGG 0.498000 16 54 0 0 0.003163 0 0 GALNT15 117248 broad.mit.edu 37 3 16254142 16254142 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:16254142C>T ENST00000339732.5 + 6 1767 c.1264C>T c.(1264-1266)Cag>Tag p.Q422* GALNT15_ENST00000437509.1_Nonsense_Mutation_p.Q422* NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 CTACCAAAATCAGGATTCCCA 0.537000 21 45 0 0 0.012319 0 0 DNAH11 8701 broad.mit.edu 37 7 21789935 21789935 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:21789935G>A ENST00000328843.6 + 55 8945 c.8914G>A c.(8914-8916)Gaa>Aaa p.E2972K DNAH11_ENST00000409508.3_Missense_Mutation_p.E2965K Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2972 AAA 4 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AGACTCCAGGGAAAACTGTTG 0.413000 Kartagener syndrome 8 9 0 0 0.006214 0 0 MUC16 94025 broad.mit.edu 37 19 9073527 9073527 + Missense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9073527G>T ENST00000397910.4 - 3 14122 c.13919C>A c.(13918-13920)tCt>tAt p.S4640Y NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4642 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 TGCATCAAAAGAGGGGACTTC 0.453000 10 90 3.07112e-06 3.3368e-06 0.010729 1 0 ZNF211 10520 broad.mit.edu 37 19 58144753 58144753 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:58144753C>T ENST00000299871.5 + 1 170 c.39C>T c.(37-39)gtC>gtT p.V13V ZNF211_ENST00000420680.1_Intron|ZNF211_ENST00000347302.3_Silent_p.V13V|ZNF211_ENST00000541801.1_Intron|ZNF211_ENST00000391703.3_Intron|ZNF211_ENST00000254182.7_Intron|ZNF211_ENST00000240731.4_Silent_p.V13V|ZNF211_ENST00000544273.1_5'UTR NM_001265597.1 NP_001252526.1 Q13398 ZN211_HUMAN zinc finger protein 211 13 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGCTCCCGGTCCAGCTCCGCC 0.726000 6 18 0 0 0.003080 0 0 KIAA1324 57535 broad.mit.edu 37 1 109743403 109743403 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:109743403G>A ENST00000369939.3 + 21 3037 c.2854G>A c.(2854-2856)Gac>Aac p.D952N KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Missense_Mutation_p.D865N NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 952 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) TACTCTCAAGGACTGTGACCT 0.488000 OREG0013630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 164 339 0 0 0.014410 0 0 C1orf172 126695 broad.mit.edu 37 1 27278660 27278660 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:27278660G>A ENST00000320567.5 - 2 300 c.212C>T c.(211-213)tCc>tTc p.S71F NM_152365.2 NP_689578.2 Q8NAX2 CA172_HUMAN chromosome 1 open reading frame 172 71 NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) GCAGGTGGGGGACTCAAGGGC 0.682000 8 28 0 0 0.004482 0 0 FEZF1 389549 broad.mit.edu 37 7 121944266 121944266 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:121944266G>A ENST00000442488.2 - 1 293 c.226C>T c.(226-228)Ccc>Tcc p.P76S FEZF1_ENST00000427185.2_Missense_Mutation_p.P76S|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.P76S NM_001024613.2|NM_001160264.1 NP_001019784.2|NP_001153736.1 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 76 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1) 25 GGCACGAAGGGGATCATGCAG 0.687000 15 36 0 0 0.002450 0 0 SLC39A13 91252 broad.mit.edu 37 11 47435027 47435027 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:47435027C>T ENST00000524928.1 + 4 624 c.614C>T c.(613-615)cCc>cTc p.P205L SLC39A13_ENST00000362021.4_Missense_Mutation_p.P205L|SLC39A13_ENST00000354884.4_Missense_Mutation_p.P205L|SLC39A13_ENST00000533076.1_Missense_Mutation_p.P205L|SLC39A13_ENST00000529740.1_3'UTR Q96H72 S39AD_HUMAN solute carrier family 39 (zinc transporter), member 13 205 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|kidney(1)|lung(1)|prostate(1) 4 Lung(87;0.0936) GCTGCAGAGCCCGGCCTCGGT 0.692000 9 33 0 0 0.006214 0 0 HTR1D 3352 broad.mit.edu 37 1 23520476 23520476 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:23520476G>A ENST00000374619.1 - 1 746 c.237C>T c.(235-237)tcC>tcT p.S79S HTR1D_ENST00000314113.3_Silent_p.S79S NM_000864.4 NP_000855.1 P28221 5HT1D_HUMAN 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled 79 G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission integral to plasma membrane serotonin receptor activity NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185) Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315) TGGTGGCCAGGGAGCCAATCA 0.537000 52 123 0 0 0.014410 0 0 PHACTR4 65979 broad.mit.edu 37 1 28785613 28785613 + Missense_Mutation SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:28785613A>C ENST00000373839.3 + 3 295 c.34A>C c.(34-36)Act>Cct p.T12P PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.T22P NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 12 actin binding|protein phosphatase inhibitor activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) AGACCAGCCCACTACAGAGCC 0.468000 8 34 0 0 0.003080 0 0 DNAH3 55567 broad.mit.edu 37 16 20996678 20996678 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:20996678C>T ENST00000261383.3 - 48 7385 c.7386G>A c.(7384-7386)aaG>aaA p.K2462K DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2462 AAA 4 (By similarity). 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) CTGCGTAGTTCTTGGTGATCT 0.547000 15 11 0 0 0.002450 0 0 SPHKAP 80309 broad.mit.edu 37 2 228856032 228856032 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:228856032C>T ENST00000392056.3 - 10 4778 c.4732G>A c.(4732-4734)Gaa>Aaa p.E1578K SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1549K NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1578 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TTCTTTTCTTCTACTAATTCA 0.393000 22 45 0 0 0.003330 0 0 SI 6476 broad.mit.edu 37 3 164712147 164712147 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:164712147C>T ENST00000264382.3 - 41 4801 c.4739G>A c.(4738-4740)aGg>aAg p.R1580K NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1580 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) TAGAATATTCCTTGACATTTC 0.353000 HNSCC(35;0.089) 23 50 0 0 0.004656 0 0 C1orf186 440712 broad.mit.edu 37 1 206241558 206241558 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:206241558G>A ENST00000331555.5 - 4 869 c.231C>T c.(229-231)atC>atT p.I77I NM_001007544.1 NP_001007545.1 Q6ZWK4 CA186_HUMAN chromosome 1 open reading frame 186 77 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 9 BRCA - Breast invasive adenocarcinoma(75;0.0754) CAGACATTGGGATGTCTCTCT 0.547000 64 139 0 0 0.014410 0 0 SMU1 55234 broad.mit.edu 37 9 33062142 33062142 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:33062142G>A ENST00000397149.3 - 5 585 c.535C>T c.(535-537)Cct>Tct p.P179S SMU1_ENST00000536631.1_Missense_Mutation_p.P18S NM_018225.2 NP_060695.2 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) 179 cytoplasm|nucleus endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) ATACCAGGAGGAAGCAATCCC 0.428000 20 37 0 0 0.008871 0 0 DDO 8528 broad.mit.edu 37 6 110736674 110736674 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:110736674C>T ENST00000368924.3 - 1 91 c.76G>A c.(76-78)Gac>Aac p.D26N DDO_ENST00000368923.3_Missense_Mutation_p.D26N|DDO_ENST00000368925.1_5'UTR NM_003649.2 NP_003640.2 Q99489 OXDD_HUMAN D-aspartate oxidase 0 aspartate catabolic process peroxisome binding|D-amino-acid oxidase activity|D-aspartate oxidase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3) 24 all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327) all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046) AAGTACCTGTCTCTGAAAAAG 0.517000 4 43 0 0 0.009096 0 0 RXFP2 122042 broad.mit.edu 37 13 32367143 32367143 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:32367143G>A ENST00000298386.2 + 16 1775 c.1704G>A c.(1702-1704)ggG>ggA p.G568G RXFP2_ENST00000380314.1_Silent_p.G544G NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 568 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) ACTTTTATGGGAAAAATGGAG 0.343000 12 22 0 0 0.001855 0 0 HAO1 54363 broad.mit.edu 37 20 7895041 7895041 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:7895041C>T ENST00000378789.3 - 3 366 c.315G>A c.(313-315)atG>atA p.M105I NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 105 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 AACTCAACATCATGCCCGTTC 0.517000 6 22 0 0 0.001984 0 0 OR6T1 219874 broad.mit.edu 37 11 123813896 123813896 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:123813896G>A ENST00000321252.2 - 1 684 c.650C>T c.(649-651)tCc>tTc p.S217F NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S217Y(1) 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) GCAGGCATAGGAAACTGAGGT 0.542000 4 43 0 0 0.009096 0 0 EPPIN 57119 broad.mit.edu 37 20 44174409 44174409 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:44174409C>T ENST00000336443.3 - 1 607 c.44G>A c.(43-45)gGg>gAg p.G15E EPPIN-WFDC6_ENST00000504988.1_Splice_Site_p.R31_splice|EPPIN_ENST00000409554.1_Splice_Site_p.R31_splice|EPPIN_ENST00000555685.1_Splice_Site_p.R31_splice|EPPIN_ENST00000354280.4_Splice_Site_p.R31_splice epididymal peptidase inhibitor GGGACATCTCCCTAGGGAAAG 0.468000 19 51 0 0 0.010504 0 0 IDH3G 3421 broad.mit.edu 37 X 153052286 153052286 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:153052286G>A ENST00000370092.3 - 10 1079 c.894C>T c.(892-894)aaC>aaT p.N298N IDH3G_ENST00000217901.5_Silent_p.N298N|IDH3G_ENST00000427365.2_Silent_p.N240N|IDH3G_ENST00000370093.1_Silent_p.N298N NM_174869.2 NP_777358.1 P51553 IDH3G_HUMAN isocitrate dehydrogenase 3 (NAD+) gamma 298 carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleolus ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1) 17 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) CATGGCCATAGTTGGCCCCAG 0.572000 36 20 0 0 0.004878 0 0 OTOL1 131149 broad.mit.edu 37 3 161221501 161221501 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:161221501G>A ENST00000327928.4 + 4 1205 c.1205G>A c.(1204-1206)cGa>cAa p.R402Q NM_001080440.1 NP_001073909.1 A6NHN0 OTOL1_HUMAN otolin 1 402 C1q. collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 CGACCTGCTCGAATCAGTCTG 0.468000 8 9 0 0 0.003080 0 0 OR10C1 442194 broad.mit.edu 37 6 29408591 29408591 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:29408591C>T ENST00000444197.2 + 1 1509 c.799C>T c.(799-801)Ccg>Tcg p.P267S OR11A1_ENST00000377149.1_Intron NM_013941.3 NP_039229.3 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene) 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 CAGCTACGATCCGGCCACTGA 0.572000 64 109 0 0 0.014410 0 0 CADPS 8618 broad.mit.edu 37 3 62464011 62464011 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:62464011T>C ENST00000383710.4 - 23 3603 c.3254A>G c.(3253-3255)gAa>gGa p.E1085G CADPS_ENST00000357948.3_Missense_Mutation_p.E1006G|CADPS_ENST00000283269.9_Missense_Mutation_p.E1046G NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 1085 Interaction with DRD2.|MHD1. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) AAACTCTTCTTCAGGCCAGTG 0.473000 10 68 0 0 0.008291 0 0 TNFRSF10D 8793 broad.mit.edu 37 8 22995424 22995424 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:22995424A>G ENST00000312584.3 - 9 1214 c.1120T>C c.(1120-1122)Tat>Cat p.Y374H NM_003840.4 NP_003831.2 Q9UBN6 TR10D_HUMAN tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain 374 anti-apoptosis|apoptosis integral to membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) TCTTCTTCATAAAAGAGCTTT 0.488000 3 34 0 0 0.004672 0 0 ARAP2 116984 broad.mit.edu 37 4 36126563 36126563 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:36126563T>C ENST00000303965.4 - 22 4156 c.3667A>G c.(3667-3669)Aaa>Gaa p.K1223E NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 1223 Rho-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 CCATATTTTTTAATTCTTTCC 0.358000 26 21 0 0 0.007291 0 0 PLCH1 23007 broad.mit.edu 37 3 155200581 155200581 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:155200581T>C ENST00000460012.1 - 23 3501 c.3144A>G c.(3142-3144)ccA>ccG p.P1048P PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Silent_p.P1086P|PLCH1_ENST00000414191.1_Silent_p.P1048P|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Silent_p.P1048P Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1086 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AATGCTGCTTTGGGGAGAGAG 0.507000 59 106 0 0 0.014410 0 0 PHKA1 5255 broad.mit.edu 37 X 71843002 71843002 + Silent SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:71843002C>A ENST00000373545.3 - 18 2355 c.1917G>T c.(1915-1917)ctG>ctT p.L639L PHKA1_ENST00000373539.3_Silent_p.L639L|PHKA1_ENST00000373542.4_Silent_p.L639L|PHKA1_ENST00000541944.1_Silent_p.L639L|PHKA1_ENST00000339490.3_Silent_p.L639L P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 639 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) TGCCAGATTCCAGGTAATCAT 0.413000 18 11 1.2644e-06 1.37553e-06 0.010504 1 0 RFX1 5989 broad.mit.edu 37 19 14079479 14079479 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:14079479G>A ENST00000254325.4 - 12 1864 c.1630C>T c.(1630-1632)Cag>Tag p.Q544* NM_002918.4 NP_002909.4 P22670 RFX1_HUMAN regulatory factor X, 1 (influences HLA class II expression) 544 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) TCCATCTTCTGGATGGGCTTG 0.682000 17 27 0 0 0.012319 0 0 TTN 7273 broad.mit.edu 37 2 179583544 179583544 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179583544A>T ENST00000589042.1 - 84 24607 c.24383T>A c.(24382-24384)cTg>cAg p.L8128Q TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.L6884Q|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.L7811Q NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7811 Ig-like 63. 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) AAAATCTTCCAGAGAGATGTT 0.488000 13 24 0 0 0.004007 0 0 ZNF585A 199704 broad.mit.edu 37 19 37643740 37643740 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:37643740G>A ENST00000356958.4 - 5 1319 c.1061C>T c.(1060-1062)tCc>tTc p.S354F ZNF585A_ENST00000355533.2_Missense_Mutation_p.S299F|ZNF585A_ENST00000392157.2_Missense_Mutation_p.S299F|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.S299F Q6P3V2 Z585A_HUMAN zinc finger protein 585A 354 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGTACATATGGAAGATTTCTC 0.398000 39 62 0 0 0.008740 0 0 SALL1 6299 broad.mit.edu 37 16 51171035 51171035 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:51171035G>A ENST00000440970.1 - 3 4103 c.3672C>T c.(3670-3672)atC>atT p.I1224I SALL1_ENST00000541611.1_Silent_p.I144I|SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000251020.4_Silent_p.I1321I NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 1321 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.I1321I(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) AACTCGTGACGATCTCCTTGC 0.592000 6 27 0 0 0.001168 0 0 PLA2G7 7941 broad.mit.edu 37 6 46672297 46672297 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:46672297C>T ENST00000274793.7 - 12 1522 c.1326G>A c.(1324-1326)taG>taA p.*442* PLA2G7_ENST00000537365.1_Silent_p.*442* NM_005084.3 NP_005075.3 Q13093 PAFA_HUMAN phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) 0 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1) 14 Lung(136;0.192) TATTTTAATCCTAATTGTATT 0.353000 7 29 0 0 0.001984 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18691095 18691095 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:18691095G>A ENST00000433979.1 + 24 3322 c.3206G>A c.(3205-3207)cGa>cAa p.R1069Q PIK3C2G_ENST00000266497.5_Missense_Mutation_p.R1069Q|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R1110Q NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 1069 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) TACAGGGACCGAGCTCCTTTC 0.368000 25 12 0 0 0.006320 0 0 FMN2 56776 broad.mit.edu 37 1 240370204 240370204 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:240370204C>T ENST00000319653.9 + 5 2322 c.2092C>T c.(2092-2094)Cct>Tct p.P698S NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 698 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GAGGCAGTATCCTGCCCTGGA 0.498000 9 44 0 0 0.008291 0 0 FLNC 2318 broad.mit.edu 37 7 128494960 128494960 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:128494960G>A ENST00000325888.8 + 42 7390 c.7129G>A c.(7129-7131)Gaa>Aaa p.E2377K RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.E2344K NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2377 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TGTCGTCCAGGAACCAGGTGG 0.627000 20 48 0 0 0.014323 0 0 MIR557 693142 broad.mit.edu 37 1 168344851 168344851 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:168344851G>A ENST00000385239.1 + 0 90 NR_030284.1 GTCTTTGAAAGGAGGTGGAGA 0.463000 46 106 0 0 0.014410 0 0 GIMAP5 55340 broad.mit.edu 37 7 150439746 150439746 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:150439746G>A ENST00000358647.3 + 3 886 c.519G>A c.(517-519)ctG>ctA p.L173L GIMAP5_ENST00000479556.1_3'UTR NM_018384.4 NP_060854.2 GTPase, IMAP family member 5 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACTGCAGCCTGAAAGACCTGG 0.577000 49 74 0 0 0.014410 0 0 OSBPL2 9885 broad.mit.edu 37 20 60854366 60854366 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:60854366C>T ENST00000313733.3 + 7 847 c.645C>T c.(643-645)ccC>ccT p.P215P OSBPL2_ENST00000439951.2_Silent_p.P123P|OSBPL2_ENST00000358053.2_Silent_p.P203P NM_144498.1 NP_653081.1 Q9H1P3 OSBL2_HUMAN oxysterol binding protein-like 2 215 lipid transport lipid binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) AGGCGGAGCCCCGAGGCACCA 0.582000 11 21 0 0 0.013537 0 0 GPR111 222611 broad.mit.edu 37 6 47646785 47646785 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:47646785G>A ENST00000398742.2 + 3 231 c.182G>A c.(181-183)gGa>gAa p.G61E GPR111_ENST00000507065.1_Missense_Mutation_p.G61E|GPR111_ENST00000296862.1_Missense_Mutation_p.G129E Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 129 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 GACACTCAGGGAAATATGGGG 0.458000 20 28 0 0 0.008871 0 0 HRASLS5 117245 broad.mit.edu 37 11 63230976 63230976 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:63230976C>T ENST00000540857.1 - 6 941 c.809G>A c.(808-810)tGa>tAa p.*270* HRASLS5_ENST00000539221.1_3'UTR|HRASLS5_ENST00000301790.4_Silent_p.*280* NM_001146728.1|NM_001146729.1|NM_054108.3 NP_001140200.1|NP_001140201.1|NP_473449.1 Q96KN8 HRSL5_HUMAN HRAS-like suppressor family, member 5 0 endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 14 TCATCACCTTCAGGCAGTTAT 0.468000 33 134 0 0 0.005524 0 0 MME 4311 broad.mit.edu 37 3 154856008 154856008 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:154856008G>A ENST00000460393.1 + 9 958 c.838G>A c.(838-840)Gaa>Aaa p.E280K MME_ENST00000462745.1_Missense_Mutation_p.E280K|MME_ENST00000493237.1_Missense_Mutation_p.E280K|MME_ENST00000360490.2_Missense_Mutation_p.E280K|MME_ENST00000492661.1_Missense_Mutation_p.E280K NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 280 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) TATGGAATTGGAAAAAGAAAT 0.338000 21 49 0 0 0.002780 0 0 RBM12B 389677 broad.mit.edu 37 8 94746800 94746800 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:94746800G>A ENST00000399300.2 - 3 2052 c.1839C>T c.(1837-1839)caC>caT p.H613H RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Silent_p.H613H NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 613 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) CCTCCCTAGGGTGCCTGAAGT 0.642000 15 45 0 0 0.004007 0 0 TTN 7273 broad.mit.edu 37 2 179429354 179429354 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179429354C>T ENST00000589042.1 - 326 81729 c.81505G>A c.(81505-81507)Gat>Aat p.D27169N TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D18104N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D18229N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D24601N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D18296N|TTN_ENST00000591111.1_Missense_Mutation_p.D25528N|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25528 Ig-like 129. 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) TCACATGGATCACGAGCAACA 0.443000 17 22 0 0 0.012319 0 0 STC1 6781 broad.mit.edu 37 8 23702352 23702352 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:23702352G>A ENST00000290271.2 - 4 958 c.675C>T c.(673-675)ctC>ctT p.L225L STC1_ENST00000524323.1_Silent_p.L156L NM_003155.2 NP_003146.1 P52823 STC1_HUMAN stanniocalcin 1 225 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) GGTTCCTGAGGAGGACTTTCA 0.547000 17 39 0 0 0.007413 0 0 CASR 846 broad.mit.edu 37 3 121980613 121980613 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:121980613C>T ENST00000498619.1 + 4 1169 c.731C>T c.(730-732)tCc>tTc p.S244F CASR_ENST00000296154.5_Missense_Mutation_p.S244F|CASR_ENST00000490131.1_Missense_Mutation_p.S244F NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 244 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) GAACTCATCTCCCAGTACTCT 0.498000 8 131 0 0 0.010729 0 0 KCNA7 3743 broad.mit.edu 37 19 49573376 49573376 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:49573376C>T ENST00000221444.1 - 2 1670 c.1315G>A c.(1315-1317)Gag>Aag p.E439K NM_031886.2 NP_114092.2 Q96RP8 KCNA7_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 7 439 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2) 11 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441) GGTGGTAGCTCAGGTACCTCC 0.622000 24 28 0 0 0.003330 0 0 SLC45A2 51151 broad.mit.edu 37 5 33964039 33964039 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:33964039G>A ENST00000382102.3 - 3 702 c.645C>T c.(643-645)ttC>ttT p.F215F SLC45A2_ENST00000296589.4_Silent_p.F215F|SLC45A2_ENST00000509381.1_Intron|SLC45A2_ENST00000345083.5_Intron|SLC45A2_ENST00000342059.3_Silent_p.F156F NM_001012509.2 NP_001012527.1 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 215 melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 ACATGACCTGGAATTCTGTAC 0.488000 11 22 0 0 0.008291 0 0 PDCD4 27250 broad.mit.edu 37 10 112645010 112645010 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:112645010G>A ENST00000393104.2 + 6 768 c.e6-1 PDCD4_ENST00000280154.7_Splice_Site|PDCD4_ENST00000481353.1_3'UTR NM_145341.3 NP_663314.1 Q53EL6 PDCD4_HUMAN programmed cell death 4 (neoplastic transformation inhibitor) apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent cytosol|nucleus protein binding|RNA binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 13 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125) TCCCCTCAAAGGAGAACTGTG 0.328000 14 36 0 0 0.001855 0 0 EPN1 29924 broad.mit.edu 37 19 56204342 56204342 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:56204342C>T ENST00000411543.2 + 9 2008 c.1461C>T c.(1459-1461)ccC>ccT p.P487P EPN1_ENST00000270460.6_Silent_p.P401P|EPN1_ENST00000085079.7_Silent_p.P375P NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 401 Ala/Gly/Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) ACACGGAGCCCGACGAGTTCT 0.701000 27 91 0 0 0.010818 0 0 ACADL 33 broad.mit.edu 37 2 211070512 211070512 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:211070512G>A ENST00000233710.3 - 6 839 c.612C>T c.(610-612)atC>atT p.I204I AC006994.2_ENST00000412065.1_RNA NM_001608.3 NP_001599.1 P28330 ACADL_HUMAN acyl-CoA dehydrogenase, long chain 204 carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial matrix long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 Renal(323;0.202) Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621) ACCCATTACTGATGAACACCT 0.383000 25 48 0 0 0.007291 0 0 LYG1 129530 broad.mit.edu 37 2 99907775 99907775 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:99907775G>A ENST00000409448.1 - 6 574 c.258C>T c.(256-258)atC>atT p.I86I LYG1_ENST00000308528.4_Silent_p.I86I Q8N1E2 LYG1_HUMAN lysozyme G-like 1 86 cell wall macromolecule catabolic process|peptidoglycan catabolic process extracellular region lysozyme activity endometrium(2)|kidney(1)|large_intestine(3)|lung(1) 7 AGACACCAGCGATCACGGCAG 0.488000 21 25 0 0 0.014323 0 0 OR2W3 343171 broad.mit.edu 37 1 248058927 248058927 + Silent SNP C C T rs118132111 by1000genomes TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:248058927C>T ENST00000537741.1 + 3 296 c.39C>T c.(37-39)atC>atT p.I13I OR2W3_ENST00000360358.3_Silent_p.I13I Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CCCATTTCATCCTACTGGGAT 0.473000 6 37 0 0 0.001168 0 0 ZNF215 7762 broad.mit.edu 37 11 6977606 6977606 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:6977606C>T ENST00000278319.5 + 7 1986 c.1398C>T c.(1396-1398)aaC>aaT p.N466N ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Silent_p.N466N NM_013250.2 NP_037382.2 Q9UL58 ZN215_HUMAN zinc finger protein 215 466 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) AATGTGTTAACTGTGGAAAAT 0.393000 25 34 0 0 0.003954 0 0 BAD 572 broad.mit.edu 37 11 64037647 64037647 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:64037647G>A ENST00000544785.1 - 2 350 c.350C>T c.(349-351)cCc>cTc p.P117L BAD_ENST00000394532.3_3'UTR|BAD_ENST00000309032.3_3'UTR Q92934 BAD_HUMAN BCL2-associated agonist of cell death 0 activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation cytosol|mitochondrial outer membrane caspase activator activity|phospholipid binding|protein kinase binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1) 4 CAGGGCAGTGGGAACGGGTGG 0.607000 9 32 0 0 0.006214 0 0 SCGB1D1 10648 broad.mit.edu 37 11 61960872 61960872 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:61960872G>A ENST00000306238.3 + 3 314 c.243_splice c.e3-1 p.G82_splice NM_006552.1 NP_006543.1 O95968 SG1D1_HUMAN secretoglobin, family 1D, member 1 82 extracellular space binding endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1) 9 CTATTTCAGGGAAAAATAGCA 0.413000 9 15 0 0 0.010729 0 0 DLG5 9231 broad.mit.edu 37 10 79554636 79554636 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:79554636G>A ENST00000372391.2 - 30 5522 c.5517C>T c.(5515-5517)ttC>ttT p.F1839F DLG5_ENST00000372388.2_Silent_p.F1499F|DLG5_ENST00000459739.1_5'UTR NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1839 Guanylate kinase-like. 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) TGTAGTGGATGAAGATGACAA 0.607000 8 20 0 0 0.003080 0 0 ZAN 7455 broad.mit.edu 37 7 100391855 100391855 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:100391855G>A ENST00000542585.1 + 0 8310 ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_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) GCACCCTGGGGAACCACACCC 0.642000 19 72 0 0 0.002780 0 0 AKR7L 246181 broad.mit.edu 37 1 19597021 19597021 + RNA SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:19597021T>C ENST00000420396.2 - 0 430 AKR7L_ENST00000429712.1_RNA aldo-keto reductase family 7-like breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1) 6 GGCGGCATAGTTGGAGAGGCC 0.637000 16 23 0 0 0.006122 0 0 GRM4 2914 broad.mit.edu 37 6 34004268 34004268 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:34004268C>T ENST00000374181.3 - 8 1788 c.1619G>A c.(1618-1620)tGg>tAg p.W540* GRM4_ENST00000545715.1_Nonsense_Mutation_p.W232*|GRM4_ENST00000455714.2_Nonsense_Mutation_p.W400*|GRM4_ENST00000535756.1_Nonsense_Mutation_p.W407*|GRM4_ENST00000544773.1_Nonsense_Mutation_p.W371*|GRM4_ENST00000374177.3_Nonsense_Mutation_p.W424*|GRM4_ENST00000538487.1_Nonsense_Mutation_p.W540* NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 540 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) CTCGCAGTGCCAGCAGCAAGG 0.652000 12 42 0 0 0.010729 0 0 SLC14A2 8170 broad.mit.edu 37 18 43247946 43247946 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:43247946C>T ENST00000255226.6 + 14 2682 c.1866C>T c.(1864-1866)acC>acT p.T622T SLC14A2_ENST00000586448.1_Silent_p.T622T|SLC14A2_ENST00000589658.1_Silent_p.T99T NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 622 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 GCCTGGGTACCATCATGTCCA 0.562000 38 64 0 0 0.005524 0 0 MCOLN3 55283 broad.mit.edu 37 1 85484831 85484831 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:85484831G>A ENST00000370589.2 - 13 1689 c.1637C>T c.(1636-1638)tCt>tTt p.S546F MCOLN3_ENST00000474447.1_5'UTR|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Missense_Mutation_p.S490F NM_018298.10 NP_060768.8 Q8TDD5 MCLN3_HUMAN mucolipin 3 546 integral to membrane ion channel activity endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1) 34 all cancers(265;0.00957)|Epithelial(280;0.0254) GCAGAATAAAGATACTGGAGG 0.373000 7 44 0 0 0.003080 0 0 PTENP1 11191 broad.mit.edu 37 9 33676283 33676283 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:33676283G>A ENST00000532280.1 - 0 1214 NR_023917.1 GCTTTACAGTGAATTGCTGCA 0.388000 12 46 0 0 0.006122 0 0 EXOC5 10640 broad.mit.edu 37 14 57676445 57676445 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:57676445G>A ENST00000413566.2 - 17 2137 c.1778C>T c.(1777-1779)tCc>tTc p.S593F EXOC5_ENST00000340918.7_Missense_Mutation_p.S528F NM_006544.3 NP_006535.1 O00471 EXOC5_HUMAN exocyst complex component 5 593 exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking cytoplasm breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 22 CCCATCCATGGAATTTTTAAT 0.363000 10 8 0 0 0.008291 0 0 PROSER1 80209 broad.mit.edu 37 13 39587218 39587218 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:39587218G>A ENST00000352251.3 - 11 3004 c.2171C>T c.(2170-2172)tCa>tTa p.S724L PROSER1_ENST00000350125.3_Missense_Mutation_p.S702L|PROSER1_ENST00000484434.2_Intron NM_025138.3 NP_079414.3 Q86XN7 CM023_HUMAN proline and serine rich 1 724 Ser-rich. GGCTATTAATGACCCTGGGAG 0.488000 7 73 0 0 0.001984 0 0 OR4D11 219986 broad.mit.edu 37 11 59271963 59271963 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:59271963C>T ENST00000313253.1 + 1 915 c.915C>T c.(913-915)ctC>ctT p.L305L NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 AGAGAAGACTCGTGCCTTCTG 0.527000 13 19 0 0 0.013537 0 0 IFNAR1 3454 broad.mit.edu 37 21 34715863 34715863 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr21:34715863C>T ENST00000270139.3 + 5 706 c.554C>T c.(553-555)tCc>tTc p.S185F IFNAR1_ENST00000416947.2_Missense_Mutation_p.S116F|IFNAR1_ENST00000442357.2_Missense_Mutation_p.S185F NM_000629.2 NP_000620.2 P17181 INAR1_HUMAN interferon (alpha, beta and omega) receptor 1 185 Fibronectin type-III 1. JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway integral to plasma membrane type I interferon receptor activity breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2) 14 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) AATATTTATTCCAGACATAAA 0.289000 8 26 0 0 0.003080 0 0 ZNF319 57567 broad.mit.edu 37 16 58030886 58030886 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:58030886G>A ENST00000299237.2 - 2 1906 c.1284C>T c.(1282-1284)ttC>ttT p.F428F NM_020807.1 NP_065858.1 Q9P2F9 ZN319_HUMAN zinc finger protein 319 428 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1) 8 CAGGGCACTTGAAGGGCCGCT 0.667000 6 21 0 0 0.001984 0 0 LHFPL4 375323 broad.mit.edu 37 3 9543896 9543896 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:9543896C>T ENST00000287585.6 - 4 1028 c.743G>A c.(742-744)tGa>tAa p.*248* NM_198560.2 NP_940962.1 Q7Z7J7 LHPL4_HUMAN lipoma HMGIC fusion partner-like 4 0 integral to membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1) 10 Medulloblastoma(99;0.227) CCTGGCCTTTCAGGGTCCCTG 0.587000 6 24 0 0 0.003080 0 0 CUL4A 8451 broad.mit.edu 37 13 113899540 113899540 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:113899540C>T ENST00000451881.1 + 14 1468 c.1219C>T c.(1219-1221)Cat>Tat p.H407Y CUL4A_ENST00000326335.4_Missense_Mutation_p.H407Y|CUL4A_ENST00000375440.4_Missense_Mutation_p.H507Y|CUL4A_ENST00000375441.3_Missense_Mutation_p.H407Y NM_001278513.1|NM_003589.2 NP_001265442.1|NP_003580.1 Q13619 CUL4A_HUMAN cullin 4A 507 cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1) 17 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) CATCATGGTTCATTTCAAGCA 0.493000 11 29 0 0 0.002450 0 0 INADL 10207 broad.mit.edu 37 1 62253636 62253636 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:62253636C>T ENST00000371158.2 + 8 1174 c.1060C>T c.(1060-1062)Cct>Tct p.P354S INADL_ENST00000316485.6_Missense_Mutation_p.P354S NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 354 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 CAGCAAGGGCCCTGGTTCTGT 0.488000 11 33 0 0 0.001855 0 0 EGFR 1956 broad.mit.edu 37 7 55266472 55266472 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:55266472G>A ENST00000275493.2 + 23 2941 c.2764G>A c.(2764-2766)Gag>Aag p.E922K EGFR_ENST00000454757.2_Missense_Mutation_p.E869K|EGFR_ENST00000455089.1_Missense_Mutation_p.E877K|EGFR_ENST00000442591.1_Intron NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 922 Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CCCTGCCAGCGAGATCTCCTC 0.517000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 27 73 0 0 0.008361 0 0 SRP54 6729 broad.mit.edu 37 14 35478029 35478029 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:35478029T>A ENST00000556994.1 + 8 874 c.477T>A c.(475-477)ttT>ttA p.F159L SRP54_ENST00000555557.1_Missense_Mutation_p.F95L|SRP54_ENST00000546080.1_Missense_Mutation_p.F110L|SRP54_ENST00000216774.6_Missense_Mutation_p.F159L P61011 SRP54_HUMAN signal recognition particle 54kDa 159 G-domain. GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243) GBM - Glioblastoma multiforme(112;0.0396) GAATTCCATTTTATGGAAGGT 0.323000 5 18 0 0 0.000602 0 0 CDYL2 124359 broad.mit.edu 37 16 80718592 80718592 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:80718592C>T ENST00000299564.8 - 2 614 c.459G>A c.(457-459)caG>caA p.Q153Q CDYL2_ENST00000563890.1_Silent_p.Q153Q|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000562812.1_Silent_p.Q153Q|CDYL2_ENST00000566173.1_Silent_p.Q153Q NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 153 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 CCATCCCGTTCTGAGACTTTT 0.522000 11 57 0 0 0.013537 0 0 IL18R1 8809 broad.mit.edu 37 2 102992414 102992414 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:102992414G>A ENST00000409599.1 + 6 872 c.516G>A c.(514-516)aaG>aaA p.K172K IL18R1_ENST00000233957.1_Silent_p.K172K Q13478 IL18R_HUMAN interleukin 18 receptor 1 172 Ig-like C2-type 2. innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 CAACGATAAAGAAGAACGCCG 0.308000 13 18 0 0 0.013537 0 0 TLR4 7099 broad.mit.edu 37 9 120474857 120474857 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:120474857A>T ENST00000355622.6 + 3 552 c.451A>T c.(451-453)Act>Tct p.T151S TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.T111S NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 151 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 ACATCTCAAAACTTTGAAAGA 0.413000 9 38 0 0 0.004482 0 0 CACHD1 57685 broad.mit.edu 37 1 65130323 65130323 + Missense_Mutation SNP C C T rs145700540 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:65130323C>T ENST00000371073.2 + 15 2237 c.2237C>T c.(2236-2238)tCc>tTc p.S746F CACHD1_ENST00000290039.5_Missense_Mutation_p.S695F|CACHD1_ENST00000495994.1_3'UTR Q5VU97 CAHD1_HUMAN cache domain containing 1 746 calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 TATCCTGGTTCCCTCATGGAC 0.458000 16 118 0 0 0.006122 0 0 LRP1B 53353 broad.mit.edu 37 2 140995765 140995765 + Missense_Mutation SNP C C T rs141605274 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:140995765C>T ENST00000389484.3 - 89 14487 c.13516G>A c.(13516-13518)Gat>Aat p.D4506N NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4506 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) AGACCTCCATCGTTGTGATCA 0.368000 TSP Lung(27;0.18) 7 50 0 0 0.003080 0 0 VPS37A 137492 broad.mit.edu 37 8 17132409 17132409 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:17132409C>T ENST00000324849.4 + 5 1258 c.584C>T c.(583-585)tCa>tTa p.S195L VPS37A_ENST00000521829.1_Missense_Mutation_p.S170L NM_001145152.1|NM_152415.2 NP_001138624.1|NP_689628.2 Q8NEZ2 VP37A_HUMAN vacuolar protein sorting 37 homolog A (S. cerevisiae) 195 cellular membrane organization|endosome transport|protein transport centrosome|late endosome membrane|nucleus autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1) 10 Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212) GCCGCTCCTTCATTTGGTGTC 0.438000 24 75 0 0 0.013726 0 0 TAF1L 138474 broad.mit.edu 37 9 32630383 32630383 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:32630383G>A ENST00000242310.4 - 1 5284 c.5195C>T c.(5194-5196)cCt>cTt p.P1732L NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1732 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TGGAGGCTTAGGTTTCCCATC 0.507000 59 75 0 0 0.014410 0 0 HNF4A 3172 broad.mit.edu 37 20 43043290 43043290 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:43043290C>T ENST00000316099.3 + 5 725 c.636C>T c.(634-636)ccC>ccT p.P212P HNF4A_ENST00000443598.2_Silent_p.P212P|HNF4A_ENST00000457232.1_Silent_p.P190P|HNF4A_ENST00000415691.1_Silent_p.P212P NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 212 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) GCGAGCTCCCCCTGGACGACC 0.622000 55 118 0 0 0.014410 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159818821 159818821 + RNA SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:159818821A>T ENST00000497452.1 - 0 517 Caaggacagaaagcggaaaaa 0.478000 44 134 0 0 0.014410 0 0 PLA2G3 50487 broad.mit.edu 37 22 31533881 31533881 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:31533881G>A ENST00000215885.3 - 4 1133 c.881C>T c.(880-882)tCc>tTc p.S294F NM_015715.3 NP_056530.2 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III 294 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 TGGGCTCCGGGAGCTGGGAGT 0.647000 22 85 0 0 0.002780 0 0 SMC5 23137 broad.mit.edu 37 9 72930412 72930412 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:72930412C>T ENST00000361138.5 + 13 1782 c.1724C>T c.(1723-1725)cCt>cTt p.P575L NM_015110.3 NP_055925.2 Q8IY18 SMC5_HUMAN structural maintenance of chromosomes 5 575 Flexible hinge. DNA recombination|DNA repair chromosome|nucleus ATP binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4) 35 GCACCTGATCCTGTAATGAGT 0.323000 6 21 0 0 0.001168 0 0 TG 7038 broad.mit.edu 37 8 133894774 133894774 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:133894774C>T ENST00000220616.4 + 7 846 c.806C>T c.(805-807)tCc>tTc p.S269F TG_ENST00000377869.1_Missense_Mutation_p.S269F NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 269 Thyroglobulin type-1 3. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GACCTTCCTTCCACCTTCACT 0.463000 41 125 0 0 0.008740 0 0 SLC22A9 114571 broad.mit.edu 37 11 63137682 63137682 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:63137682C>T ENST00000279178.3 + 1 403 c.154C>T c.(154-156)Cac>Tac p.H52Y SLC22A9_ENST00000310969.4_Missense_Mutation_p.H52Y NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 52 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 CTGCTGGGTCCACATCCTGGA 0.488000 44 123 0 0 0.014410 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76482679 76482679 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:76482679C>T ENST00000307431.8 + 7 1140 c.755C>T c.(754-756)cCt>cTt p.P252L CNTNAP4_ENST00000476707.1_Missense_Mutation_p.P256L|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P252L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P228L NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 253 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GCTAAACTGCCTTCCACTTCC 0.453000 3 9 0 0 0.009096 0 0 LCN12 286256 broad.mit.edu 37 9 139846814 139846814 + Missense_Mutation SNP C C G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:139846814C>G ENST00000371633.3 + 1 35 c.35C>G c.(34-36)tCc>tGc p.S12C NM_178536.3 NP_848631.2 Q6JVE5 LCN12_HUMAN lipocalin 12 12 lipid metabolic process extracellular region binding|transporter activity endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106) CTGTGGCTCTCCTTGCTGAAA 0.632000 6 16 0 0 0.001168 0 0 ROS1 6098 broad.mit.edu 37 6 117662585 117662585 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:117662585C>T ENST00000368508.3 - 29 5078 c.4880G>A c.(4879-4881)gGt>gAt p.G1627D GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.G1621D NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1627 Fibronectin type-III 7. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AATATTTCCACCAGACAGTCT 0.398000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 10 52 0 0 0.006214 0 0 NLRP9 338321 broad.mit.edu 37 19 56226547 56226547 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:56226547G>A ENST00000332836.2 - 6 2402 c.2375C>T c.(2374-2376)tCc>tTc p.S792F NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 792 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) GAGGACTTCGGAAATGGAGTC 0.527000 15 23 0 0 0.004007 0 0 SLC6A14 11254 broad.mit.edu 37 X 115589994 115589994 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:115589994G>A ENST00000371900.4 + 14 1890 c.1802G>A c.(1801-1803)aGa>aAa p.R601K SLC6A14_ENST00000463626.1_3'UTR NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 601 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) AGTTGCTGCAGACCAGCTTCT 0.378000 36 16 0 0 0.005524 0 0 COL1A2 1278 broad.mit.edu 37 7 94053670 94053670 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:94053670C>T ENST00000297268.6 + 41 3059 c.2588C>T c.(2587-2589)cCt>cTt p.P863L NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 863 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) ACTCCAGGTCCTCAGGGTCTT 0.502000 HNSCC(75;0.22) 44 82 0 0 0.014410 0 0 SLC1A6 6511 broad.mit.edu 37 19 15083549 15083549 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:15083549G>A ENST00000430939.2 - 2 316 c.187C>T c.(187-189)Cat>Tat p.H63Y SLC1A6_ENST00000221742.3_Silent_p.F58F|SLC1A6_ENST00000600144.1_Silent_p.F58F|SLC1A6_ENST00000598504.1_Silent_p.F58F|SLC1A6_ENST00000544886.2_Silent_p.F58F P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 0 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) TCAGCAGAATGAAGGCGTTTC 0.642000 9 27 0 0 0.008291 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12920100 12920100 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:12920100C>T ENST00000240189.2 + 3 927 c.840C>T c.(838-840)ttC>ttT p.F280F NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 280 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCACCTTCTTCAGTGGGCACC 0.458000 39 79 0 0 0.008740 0 0 MUC16 94025 broad.mit.edu 37 19 9045613 9045613 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9045613G>A ENST00000397910.4 - 5 36221 c.36018C>T c.(36016-36018)acC>acT p.T12006T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12008 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 TCCCAGGTGTGGTCAGAGGAG 0.428000 9 12 0 0 0.008291 0 0 TBATA 219793 broad.mit.edu 37 10 72534976 72534976 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:72534976G>A ENST00000299290.1 - 8 1130 c.741C>T c.(739-741)atC>atT p.I247I TBATA_ENST00000456372.2_Intron NM_152710.2 NP_689923.2 thymus, brain and testes associated GCCAGAACTGGATTGCGCTTA 0.597000 7 29 0 0 0.003080 0 0 ZNF648 127665 broad.mit.edu 37 1 182026398 182026398 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:182026398A>G ENST00000339948.3 - 2 955 c.748T>C c.(748-750)Tac>Cac p.Y250H NM_001009992.1 NP_001009992.1 Q5T619 ZN648_HUMAN zinc finger protein 648 250 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 40 AGGCACCTGTAGGGACGCGCC 0.731000 4 5 0 0 0.009096 0 0 TTN 7273 broad.mit.edu 37 2 179426223 179426223 + Silent SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179426223A>G ENST00000589042.1 - 326 84860 c.84636T>C c.(84634-84636)acT>acC p.T28212T TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Silent_p.T19147T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.T19272T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.T25644T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.T19339T|TTN_ENST00000591111.1_Silent_p.T26571T|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26571 Ig-like 131. 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) CTTTCATTTGAGTATCAGCAA 0.363000 14 50 0 0 0.001855 0 0 PDGFRB 5159 broad.mit.edu 37 5 149506146 149506146 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:149506146G>A ENST00000261799.4 - 11 2080 c.1611C>T c.(1609-1611)gcC>gcT p.A537A NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 537 aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GGGCCAGGATGGCTGAGATCA 0.582000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 12 33 0 0 0.013537 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136382 40136382 + Silent SNP G G A rs142652482 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:40136382G>A ENST00000278198.2 - 2 3424 c.1461C>T c.(1459-1461)acC>acT p.T487T LRRC4C_ENST00000527150.1_Silent_p.T487T|LRRC4C_ENST00000530763.1_Silent_p.T487T|LRRC4C_ENST00000528697.1_Silent_p.T487T Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 487 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) TGGTCACATTGGTGGTCTCCC 0.512000 12 32 0 0 0.010729 0 0 TDRD1 56165 broad.mit.edu 37 10 115970702 115970702 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:115970702G>A ENST00000251864.2 + 13 1789 c.1636G>A c.(1636-1638)Gat>Aat p.D546N TDRD1_ENST00000422662.1_Missense_Mutation_p.D207N|TDRD1_ENST00000369282.1_Missense_Mutation_p.D546N|TDRD1_ENST00000369281.2_Missense_Mutation_p.D546N|TDRD1_ENST00000369280.1_Missense_Mutation_p.D546N NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 546 Tudor 2. DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) AGCCATTGGTGATATATGTTG 0.353000 6 44 0 0 0.001168 0 0 OR5V1 81696 broad.mit.edu 37 6 29323781 29323781 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:29323781C>T ENST00000377154.1 - 4 491 c.192G>A c.(190-192)ggG>ggA p.G64G OR5V1_ENST00000543825.1_Silent_p.G64G Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, member 1 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AGGCCAAGTTCCCTAGAAAAT 0.408000 53 104 0 0 0.014410 0 0 TM9SF1 10548 broad.mit.edu 37 14 24680673 24680673 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:24680673G>A ENST00000556387.1 - 3 340 c.307C>T c.(307-309)Ctt>Ttt p.L103F AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000542700.2_5'UTR|TM9SF1_ENST00000530611.1_Missense_Mutation_p.L103F|CHMP4A_ENST00000347519.6_Missense_Mutation_p.L146F O15321 TM9S1_HUMAN transmembrane 9 superfamily member 1 0 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1) 24 GBM - Glioblastoma multiforme(265;0.0183) ATGGTACGAAGGACTTCTGCA 0.557000 3 12 0 0 0.004672 0 0 KCNAB1 7881 broad.mit.edu 37 3 155838490 155838490 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:155838490G>A ENST00000490337.1 + 1 154 c.90G>A c.(88-90)ggG>ggA p.G30G KCNAB1_ENST00000389636.5_Silent_p.G30G NM_172160.2 NP_751892.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 30 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) CTGTAGCAGGGAAAGACAAAT 0.557000 9 63 0 0 0.004482 0 0 IGDCC3 9543 broad.mit.edu 37 15 65625743 65625743 + Silent SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:65625743A>G ENST00000327987.4 - 6 1085 c.834T>C c.(832-834)ccT>ccC p.P278P IGDCC3_ENST00000559231.1_5'UTR NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 278 Ig-like C2-type 3. breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CCACCCCGATAGGGCGACCAT 0.567000 5 11 0 0 0.001168 0 0 TDRD5 163589 broad.mit.edu 37 1 179631338 179631338 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:179631338G>A ENST00000444136.1 + 15 2672 c.2422G>A c.(2422-2424)Gga>Aga p.G808R TDRD5_ENST00000367614.1_Missense_Mutation_p.G754R|TDRD5_ENST00000294848.8_Missense_Mutation_p.G754R NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 804 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 GATGGGAAAAGGAGGTGATGC 0.453000 26 29 0 0 0.003954 0 0 ASTN1 460 broad.mit.edu 37 1 176926927 176926927 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:176926927C>T ENST00000367654.2 - 11 1811 c.1798G>A c.(1798-1800)Gag>Aag p.E600K ASTN1_ENST00000424564.2_Missense_Mutation_p.E592K|ASTN1_ENST00000367657.3_Missense_Mutation_p.E592K|ASTN1_ENST00000361833.2_Missense_Mutation_p.E592K|ASTN1_ENST00000281881.3_5'UTR O14525 ASTN1_HUMAN astrotactin 1 600 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 AAGAGAACCTCCAGGCTGTCG 0.532000 10 15 0 0 0.006214 0 0 GABRP 2568 broad.mit.edu 37 5 170222290 170222290 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:170222290C>T ENST00000518525.1 + 6 783 c.319C>T c.(319-321)Ctg>Ttg p.L107L GABRP_ENST00000519385.1_Silent_p.L107L|GABRP_ENST00000519598.1_Silent_p.L107L|GABRP_ENST00000265294.4_Silent_p.L107L O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 107 cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 29 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GAGCTTCACTCTGGATGCCCG 0.557000 26 86 0 0 0.004656 0 0 GKN2 200504 broad.mit.edu 37 2 69173445 69173445 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:69173445C>T ENST00000481498.1 - 5 481 c.463G>A c.(463-465)Gaa>Aaa p.E155K GKN2_ENST00000328895.4_Missense_Mutation_p.E155K Q86XP6 GKN2_HUMAN gastrokine 2 155 extracellular region autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1) 15 CGTGTGTTTTCAACCACTTCC 0.443000 32 70 0 0 0.010818 0 0 ALOX12B 242 broad.mit.edu 37 17 7979644 7979644 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:7979644C>T ENST00000319144.4 - 11 1641 c.1381G>A c.(1381-1383)Gaa>Aaa p.E461K ALOX12B_ENST00000577351.1_5'UTR NM_001139.2 NP_001130.1 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 461 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 GCAAAGCCTTCCACGCCCAGG 0.617000 Multiple Myeloma(8;0.094) 3 5 0 0 0.004672 0 0 LRP5 4041 broad.mit.edu 37 11 68207320 68207320 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:68207320G>A ENST00000294304.7 + 21 4530 c.4424G>A c.(4423-4425)cGg>cAg p.R1475Q NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 1475 adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CTCTACGACCGGAACCACGTC 0.721000 8 22 0 0 0.008291 0 0 SRPX2 27286 broad.mit.edu 37 X 99924355 99924355 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:99924355C>T ENST00000373004.3 + 10 1634 c.1206C>T c.(1204-1206)atC>atT p.I402I NM_014467.2 NP_055282.1 O60687 SRPX2_HUMAN sushi-repeat containing protein, X-linked 2 402 angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation cytoplasm|extracellular region receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1) 19 CCAACATCATCGAGGAGCTCA 0.627000 4 7 0 0 0.000602 0 0 DYDC2 84332 broad.mit.edu 37 10 82126466 82126466 + Missense_Mutation SNP C C T rs139612342 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:82126466C>T ENST00000372199.1 + 6 891 c.293C>T c.(292-294)tCc>tTc p.S98F DYDC2_ENST00000372198.1_Missense_Mutation_p.S112F|DYDC2_ENST00000372197.1_Missense_Mutation_p.S98F|DYDC2_ENST00000256039.2_Missense_Mutation_p.S98F|DYDC2_ENST00000444807.2_Missense_Mutation_p.S98F Q96IM9 DYDC2_HUMAN DPY30 domain containing 2 98 protein binding breast(1)|large_intestine(3)|lung(6)|skin(1) 11 Colorectal(32;0.229) GAAACTGTTTCCACGAAGAAG 0.413000 21 68 0 0 0.012319 0 0 THEG 51298 broad.mit.edu 37 19 375875 375875 + Silent SNP G G A rs143456454 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:375875G>A ENST00000342640.4 - 1 138 c.96C>T c.(94-96)ctC>ctT p.L32L THEG_ENST00000346878.2_Silent_p.L32L NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein 32 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGAGCTCTGGAGGCCACGGG 0.662000 12 31 0 0 0.013537 0 0 IL36G 56300 broad.mit.edu 37 2 113742450 113742450 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:113742450G>A ENST00000259205.4 + 5 403 c.334G>A c.(334-336)Gag>Aag p.E112K IL36G_ENST00000376489.2_Missense_Mutation_p.E77K NM_019618.2 NP_062564.1 Q9NZH8 IL36G_HUMAN interleukin 36, gamma 112 cell-cell signaling extracellular space cytokine activity|interleukin-1 receptor antagonist activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1) 14 TGGCCAACCCGAGCCCGTGAA 0.493000 43 70 0 0 0.014410 0 0 DIRAS3 9077 broad.mit.edu 37 1 68512467 68512467 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:68512467C>T ENST00000370981.1 - 4 1150 c.514G>A c.(514-516)Gag>Aag p.E172K DIRAS3_ENST00000395201.1_Missense_Mutation_p.E172K|GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA O95661 DIRA3_HUMAN DIRAS family, GTP-binding RAS-like 3 172 regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 CAATTCCACTCCATCGCACAG 0.527000 36 67 0 0 0.004289 0 0 HYPK 25764 broad.mit.edu 37 15 44092969 44092969 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:44092969C>T ENST00000406925.1 + 2 4284 c.173C>T c.(172-174)tCc>tTc p.S58F SERF2_ENST00000594896.1_Missense_Mutation_p.S104F|HYPK_ENST00000498605.1_3'UTR|HYPK_ENST00000458412.1_Missense_Mutation_p.S58F|HYPK_ENST00000442995.2_Missense_Mutation_p.S58F|SERF2_ENST00000600633.1_Missense_Mutation_p.S58F huntingtin interacting protein K all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) GBM - Glioblastoma multiforme(94;8.1e-07) ATCCAGAGTTCCAATCTGGAG 0.632000 3 12 0 0 0.009096 0 0 CDHR1 92211 broad.mit.edu 37 10 85973023 85973023 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:85973023C>T ENST00000372117.3 + 16 2062 c.1959C>T c.(1957-1959)tcC>tcT p.S653S CDHR1_ENST00000440770.2_Silent_p.S357S|CDHR1_ENST00000332904.3_Silent_p.S653S NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 653 Cadherin 6. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 GCCTATGGTCCCTAGAGGTGC 0.557000 20 85 0 0 0.003330 0 0 AHCYL2 23382 broad.mit.edu 37 7 129046260 129046260 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:129046260C>T ENST00000325006.3 + 10 1302 c.1248C>T c.(1246-1248)tcC>tcT p.S416S AHCYL2_ENST00000446212.1_Silent_p.S314S|AHCYL2_ENST00000490911.1_Silent_p.S313S|AHCYL2_ENST00000474594.1_Silent_p.S313S|AHCYL2_ENST00000446544.2_Silent_p.S415S|AHCYL2_ENST00000531335.2_Silent_p.S335S NM_001130720.2|NM_015328.3 NP_001124192.1|NP_056143.1 Q96HN2 SAHH3_HUMAN adenosylhomocysteinase-like 2 416 one-carbon metabolic process adenosylhomocysteinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 22 CCATGGGCTCCATTGTGTATG 0.493000 33 66 0 0 0.004289 0 0 IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 159604006 159604006 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:159604006G>A ENST00000337808.6 + 4 1466 c.889G>A c.(889-891)Ggg>Agg p.G297R IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.G65R|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.G284R|SCHIP1_ENST00000445224.2_Missense_Mutation_p.G54R|IQCJ-SCHIP1_ENST00000460298.1_Missense_Mutation_p.G257R|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.G346R|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.G373R|SCHIP1_ENST00000482804.1_Missense_Mutation_p.G70R NM_001197107.1|NM_014575.3 NP_001184036.1|NP_055390.1 Q9P0W5 SCHI1_HUMAN 297 cytoplasm identical protein binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 ACTGCAGAGTGGGATGAACTT 0.448000 33 26 0 0 0.013726 0 0 NUP210L 91181 broad.mit.edu 37 1 154026848 154026848 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:154026848G>A ENST00000368559.3 - 25 3410 c.3339C>T c.(3337-3339)atC>atT p.I1113I NUP210L_ENST00000368553.1_Silent_p.I46I|NUP210L_ENST00000271854.3_Silent_p.I1113I NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 1113 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) AGAAGTGAACGATGGATTGGG 0.473000 22 40 0 0 0.012319 0 0 RAC1 5879 broad.mit.edu 37 7 6426907 6426907 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:6426907C>T ENST00000348035.4 + 2 313 c.100C>T c.(100-102)Cct>Tct p.P34S RAC1_ENST00000356142.4_Missense_Mutation_p.P34S|RAC1_ENST00000488373.1_3'UTR NM_006908.4 NP_008839.2 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 34 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) AGAATATATCCCTACTGTGTA 0.363000 22 74 0 0 0.004656 0 0 KIF20B 9585 broad.mit.edu 37 10 91474755 91474755 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:91474755C>T ENST00000416354.1 + 8 828 c.756C>T c.(754-756)tcC>tcT p.S252S KIF20B_ENST00000371728.3_Silent_p.S252S|KIF20B_ENST00000260753.4_Silent_p.S252S|KIF20B_ENST00000394289.2_Silent_p.S252S Q96Q89 KI20B_HUMAN kinesin family member 20B 252 Kinesin-motor. cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 TTGAAGAATCCATAAAAGATT 0.274000 8 26 0 0 0.006214 0 0 TRIM54 57159 broad.mit.edu 37 2 27528634 27528634 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:27528634G>A ENST00000296098.4 + 6 1188 c.918G>A c.(916-918)gtG>gtA p.V306V TRIM54_ENST00000380075.2_Silent_p.V264V NM_032546.3 NP_115935.3 Q9BYV2 TRI54_HUMAN tripartite motif containing 54 264 COS. cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization microtubule|sarcomere signal transducer activity|zinc ion binding cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTAAGCTGGTGGAGTCTGCCA 0.647000 3 7 0 0 0.000602 0 0 CUL9 23113 broad.mit.edu 37 6 43172719 43172719 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:43172719C>T ENST00000252050.4 + 23 4582 c.4498C>T c.(4498-4500)Cgt>Tgt p.R1500C CUL9_ENST00000372647.2_Missense_Mutation_p.R1500C|CUL9_ENST00000354495.3_Missense_Mutation_p.R1390C NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 1500 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 CTTTGTGCCTCGTTACTGTAA 0.577000 49 86 0 0 0.014410 0 0 DNAH10 196385 broad.mit.edu 37 12 124387580 124387580 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:124387580C>T ENST00000409039.3 + 56 9406 c.9381C>T c.(9379-9381)acC>acT p.T3127T NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3127 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CCGAGACGACCCTGGCAGAGG 0.567000 9 6 0 0 0.004482 0 0 OR6X1 390260 broad.mit.edu 37 11 123624392 123624392 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:123624392G>A ENST00000327930.2 - 1 861 c.835C>T c.(835-837)Ctc>Ttc p.L279F NM_001005188.1 NP_001005188.1 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, member 1 279 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2) 23 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) AGGGGGGTGAGGATAGTATTT 0.448000 22 35 0 0 0.010504 0 0 CDC20B 166979 broad.mit.edu 37 5 54420698 54420698 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:54420698G>A ENST00000296733.1 - 9 1322 c.1148C>T c.(1147-1149)cCc>cTc p.P383L CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000322374.6_Missense_Mutation_p.P383L|CDC20B_ENST00000381375.2_Missense_Mutation_p.P383L NM_001170402.1|NM_152623.2 NP_001163873.1|NP_689836.2 Q86Y33 CD20B_HUMAN cell division cycle 20B 383 kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 19 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) TGGATCGTGGGGCCATATTGT 0.542000 15 34 0 0 0.002450 0 0 ABCB9 23457 broad.mit.edu 37 12 123433332 123433332 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:123433332C>T ENST00000542678.1 - 5 3730 c.892G>A c.(892-894)Gac>Aac p.D298N ABCB9_ENST00000344275.7_Missense_Mutation_p.D298N|ABCB9_ENST00000442833.2_Missense_Mutation_p.D298N|ABCB9_ENST00000280560.8_Missense_Mutation_p.D298N|ABCB9_ENST00000392439.3_Missense_Mutation_p.D298N|ABCB9_ENST00000346530.5_Missense_Mutation_p.D298N|ABCB9_ENST00000442028.2_Missense_Mutation_p.D298N|ABCB9_ENST00000540285.1_Missense_Mutation_p.D298N Q9NP78 ABCB9_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 9 298 ABC transmembrane type-1. positive regulation of T cell mediated cytotoxicity|protein transport lysosomal membrane|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111) GAGACCAGGTCGCTGACCATG 0.617000 18 12 0 0 0.010504 0 0 ABCA8 10351 broad.mit.edu 37 17 66928482 66928482 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:66928482C>T ENST00000269080.2 - 6 881 c.744G>A c.(742-744)agG>agA p.R248R ABCA8_ENST00000430352.2_Silent_p.R248R|ABCA8_ENST00000586539.1_Silent_p.R248R NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 248 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) TCATCCTTTTCCTCTCTCTTG 0.388000 10 12 0 0 0.006214 0 0 MARK1 4139 broad.mit.edu 37 1 220824045 220824045 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:220824045G>A ENST00000402574.1 + 14 2151 c.1149G>A c.(1147-1149)caG>caA p.Q383Q MARK1_ENST00000366917.4_Silent_p.Q518Q|MARK1_ENST00000366918.4_Silent_p.Q496Q NM_018650.3 NP_061120.3 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 518 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) TAGCATTGCAGAATGGAAAAG 0.428000 36 72 0 0 0.006999 0 0 KIAA1244 57221 broad.mit.edu 37 6 138601144 138601144 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:138601144C>T ENST00000251691.4 + 14 2470 c.2304C>T c.(2302-2304)ttC>ttT p.F768F NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 768 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) AGAAGGACTTCATGAAGCAGG 0.547000 16 39 0 0 0.006122 0 0 DCLK1 9201 broad.mit.edu 37 13 36428682 36428682 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:36428682G>A ENST00000255448.4 - 6 1200 c.989C>T c.(988-990)tCg>tTg p.S330L DCLK1_ENST00000379893.1_Missense_Mutation_p.S23L|DCLK1_ENST00000460982.1_5'UTR|DCLK1_ENST00000379892.4_Missense_Mutation_p.S330L|DCLK1_ENST00000360631.3_Missense_Mutation_p.S330L NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 330 Pro/Ser-rich. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) TGGGCTTGGCGACTTGCCTGA 0.493000 8 51 0 0 0.006214 0 0 VWF 7450 broad.mit.edu 37 12 6094217 6094217 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:6094217C>T ENST00000261405.5 - 40 7224 c.6970G>A c.(6970-6972)Gag>Aag p.E2324K NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2324 VWFC 1. 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) ATACCACACTCATACTCGGGG 0.607000 35 27 0 0 0.006230 0 0 MAGI1 9223 broad.mit.edu 37 3 65464362 65464362 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:65464362C>T ENST00000330909.8 - 4 661 c.662G>A c.(661-663)cGa>cAa p.R221Q MAGI1_ENST00000402939.2_Missense_Mutation_p.R221Q|MAGI1_ENST00000483466.1_Missense_Mutation_p.R221Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000497477.2_Missense_Mutation_p.R221Q NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 221 Guanylate kinase-like. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GGACTTGGTTCGCTTCGGGGT 0.527000 37 73 0 0 0.004289 0 0 SCIN 85477 broad.mit.edu 37 7 12666397 12666397 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:12666397G>A ENST00000297029.5 + 8 1271 c.1170G>A c.(1168-1170)atG>atA p.M390I SCIN_ENST00000519209.1_Missense_Mutation_p.M143I|SCIN_ENST00000473722.1_3'UTR|SCIN_ENST00000445618.2_Missense_Mutation_p.M143I NM_001112706.2 NP_001106177.1 Q9Y6U3 ADSV_HUMAN scinderin 390 Ca(2+)-dependent actin binding. actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 17 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) AGCACAATATGGTGGATGATG 0.438000 3 9 0 0 0.004672 0 0 ZNF280D 54816 broad.mit.edu 37 15 56993168 56993168 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:56993168G>A ENST00000559237.1 - 5 988 c.305C>T c.(304-306)tCa>tTa p.S102L ZNF280D_ENST00000558320.1_Missense_Mutation_p.S115L|ZNF280D_ENST00000267807.7_Missense_Mutation_p.S115L|ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000559000.1_Missense_Mutation_p.S102L NM_001002843.1 NP_001002843.1 Q6N043 Z280D_HUMAN zinc finger protein 280D 115 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 30 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) AGAACTATCTGAAGATCTAGA 0.388000 6 21 0 0 0.001984 0 0 DNAH7 56171 broad.mit.edu 37 2 196851790 196851790 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:196851790C>T ENST00000312428.6 - 14 1854 c.1754_splice c.e14+1 p.R585_splice NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 585 Stem (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 ACATAAATACCTTGTATTTAC 0.343000 24 45 0 0 0.006320 0 0 SPTBN1 6711 broad.mit.edu 37 2 54858619 54858619 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:54858619G>A ENST00000333896.5 + 15 3781 c.3396G>A c.(3394-3396)caG>caA p.Q1132Q SPTBN1_ENST00000356805.4_Silent_p.Q1145Q NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 1145 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) AGCGGCTGCAGGCCCTGGACA 0.562000 15 79 0 0 0.003163 0 0 PLOD2 5352 broad.mit.edu 37 3 145828077 145828077 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:145828077G>A ENST00000282903.5 - 4 674 c.497C>T c.(496-498)tCa>tTa p.S166L PLOD2_ENST00000360060.3_Missense_Mutation_p.S166L|PLOD2_ENST00000494950.1_Missense_Mutation_p.S111L NM_182943.2 NP_891988.1 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 166 protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) CTCACCTCCTGAATTCAGATA 0.358000 13 44 0 0 0.003163 0 0 TSPAN2 10100 broad.mit.edu 37 1 115593133 115593133 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:115593133C>T ENST00000369516.2 - 8 675 c.644G>A c.(643-645)cGa>cAa p.R215Q TSPAN2_ENST00000491992.1_5'UTR|TSPAN2_ENST00000369514.2_Missense_Mutation_p.R187Q|TSPAN2_ENST00000369515.2_Missense_Mutation_p.R190Q NM_005725.4 NP_005716.2 O60636 TSN2_HUMAN tetraspanin 2 215 integral to membrane central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1) 10 Lung SC(450;0.211) all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) TCGTGAGTTTCGTATCGCACA 0.398000 6 40 0 0 0.001984 0 0 HPS4 89781 broad.mit.edu 37 22 26860329 26860329 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:26860329T>C ENST00000398145.2 - 11 1883 c.1267A>G c.(1267-1269)Agc>Ggc p.S423G HPS4_ENST00000402105.3_Missense_Mutation_p.S418G|HPS4_ENST00000336873.5_Missense_Mutation_p.S423G|HPS4_ENST00000398141.1_Missense_Mutation_p.S436G NM_022081.4 NP_071364.4 Q9NQG7 HPS4_HUMAN Hermansky-Pudlak syndrome 4 423 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 32 CGCAAGCTGCTGATGGCTGTG 0.617000 Hermansky-Pudlak syndrome 28 73 0 0 0.005443 0 0 CD177 57126 broad.mit.edu 37 19 43866322 43866322 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:43866322G>A ENST00000378009.4 + 0 1325 CTC-490G23.4_ENST00000607109.1_RNA|CD177_ENST00000607517.1_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) GACAAATCGGGATCTTCTCTG 0.592000 29 69 0 0 0.003271 0 0 SMTN 6525 broad.mit.edu 37 22 31487081 31487081 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:31487081C>T ENST00000333137.7 + 10 1290 c.1072C>T c.(1072-1074)Ccc>Tcc p.P358S SMTN_ENST00000358743.1_Missense_Mutation_p.P358S|SMTN_ENST00000347557.2_Missense_Mutation_p.P358S NM_001207018.1|NM_134269.2 NP_001193947.1|NP_599031.1 P53814 SMTN_HUMAN smoothelin 358 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25 TGCCCTAAGTCCCCTGACCCC 0.662000 7 51 0 0 0.004482 0 0 SPTA1 6708 broad.mit.edu 37 1 158650416 158650416 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:158650416C>T ENST00000368148.3 - 5 815 c.635G>A c.(634-636)gGg>gAg p.G212E SPTA1_ENST00000368147.3_Missense_Mutation_p.G212E NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 212 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.G212V(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AACAACTCTCCCTTCTTTAGC 0.463000 33 91 0 0 0.003755 0 0 SH3RF3 344558 broad.mit.edu 37 2 110049065 110049065 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:110049065G>A ENST00000309415.6 + 6 1512 c.1512G>A c.(1510-1512)ggG>ggA p.G504G NM_001099289.1 NP_001092759.1 Q8TEJ3 SH3R3_HUMAN SH3 domain containing ring finger 3 504 SH3 3. zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2) 18 GGTTCAAGGGGGCGTCTCTGA 0.622000 6 13 0 0 0.001984 0 0 PCCA 5095 broad.mit.edu 37 13 100807310 100807310 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:100807310C>T ENST00000376285.1 + 5 416 c.378C>T c.(376-378)gcC>gcT p.A126A PCCA_ENST00000376286.4_Silent_p.A100A|PCCA_ENST00000485946.1_3'UTR|PCCA_ENST00000376279.3_Silent_p.A126A NM_000282.3 NP_000273.2 P05165 PCCA_HUMAN propionyl CoA carboxylase, alpha polypeptide 126 Biotin carboxylation. fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2) 26 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) ACATGGATGCCATCATGGAAG 0.458000 5 99 0 0 0.001168 0 0 GUCA1A 2978 broad.mit.edu 37 6 42147103 42147103 + Missense_Mutation SNP G G A rs137984482 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:42147103G>A ENST00000394237.1 + 6 1544 c.568G>A c.(568-570)Gag>Aag p.E190K GUCA1A_ENST00000541991.1_Missense_Mutation_p.E190K|GUCA1A_ENST00000372958.1_Missense_Mutation_p.E190K|GUCA1A_ENST00000053469.4_Missense_Mutation_p.E190K P43080 GUC1A_HUMAN guanylate cyclase activator 1A (retina) 190 signal transduction|visual perception membrane calcium ion binding|calcium sensitive guanylate cyclase activator activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 7 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CGAGCAAGACGAGGAGGGGGC 0.642000 5 9 0 0 0.000602 0 0 MMP26 56547 broad.mit.edu 37 11 5010967 5010967 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:5010967G>A ENST00000380390.1 + 3 405 c.189G>A c.(187-189)cgG>cgA p.R63R MMP26_ENST00000300762.1_Silent_p.R63R|MMP26_ENST00000477339.1_3'UTR Q9NRE1 MMP26_HUMAN matrix metallopeptidase 26 63 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1) 22 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) AATTCCATCGGAATGGGACAG 0.522000 6 25 0 0 0.001168 0 0 FNDC3B 64778 broad.mit.edu 37 3 171965461 171965461 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:171965461C>T ENST00000336824.4 + 5 502 c.403C>T c.(403-405)Cat>Tat p.H135Y FNDC3B_ENST00000415807.2_Missense_Mutation_p.H135Y|FNDC3B_ENST00000416957.1_Missense_Mutation_p.H135Y NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 135 endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) ACATTTTATTCATAACTCACA 0.507000 25 89 0 0 0.003954 0 0 ANO2 57101 broad.mit.edu 37 12 5963220 5963220 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:5963220G>A ENST00000356134.5 - 4 681 c.610C>T c.(610-612)Cct>Tct p.P204S ANO2_ENST00000546188.1_Missense_Mutation_p.P204S|ANO2_ENST00000327087.8_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 83 68 0 0 0.014410 0 0 CAP2 10486 broad.mit.edu 37 6 17426833 17426833 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:17426833C>T ENST00000229922.2 + 3 666 c.134C>T c.(133-135)tCc>tTc p.S45F CAP2_ENST00000378990.2_Missense_Mutation_p.S45F|CAP2_ENST00000489374.1_Missense_Mutation_p.S45F|CAP2_ENST00000465994.1_Missense_Mutation_p.S45F|CAP2_ENST00000493172.1_Missense_Mutation_p.S45F NM_006366.2 NP_006357.1 P40123 CAP2_HUMAN CAP, adenylate cyclase-associated protein, 2 (yeast) 45 activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction plasma membrane actin binding breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1) 27 Breast(50;0.0333)|Ovarian(93;0.0386) all_hematologic(90;0.0466) all cancers(50;0.194)|Epithelial(50;0.227) GTGGCACCCTCCGTGGAAGCC 0.522000 11 54 0 0 0.013537 0 0 LGSN 51557 broad.mit.edu 37 6 63990547 63990547 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:63990547G>A ENST00000370657.4 - 4 942 c.909C>T c.(907-909)ttC>ttT p.F303F LGSN_ENST00000370658.5_Intron Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 303 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) CAGTCTCAATGAAGAAGCTGG 0.423000 10 23 0 0 0.006214 0 0 ARHGAP27 201176 broad.mit.edu 37 17 43474338 43474338 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:43474338G>A ENST00000532038.1 - 10 1364 c.1229C>T c.(1228-1230)tCg>tTg p.S410L ARHGAP27_ENST00000455881.1_Missense_Mutation_p.S291L|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.S610L|CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.S264L|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.S291L|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.S605L|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.S632L Q6ZUM4 RHG27_HUMAN Rho GTPase activating protein 27 632 positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding endometrium(4)|large_intestine(9)|lung(3)|skin(1) 17 Renal(3;0.0405) GCGCTCGCTCGACCCGAAGTC 0.667000 45 23 0 0 0.014410 0 0 TRIM68 55128 broad.mit.edu 37 11 4624525 4624525 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:4624525C>T ENST00000300747.5 - 3 761 c.472G>A c.(472-474)Gag>Aag p.E158K NM_018073.6 NP_060543.5 Q6AZZ1 TRI68_HUMAN tripartite motif containing 68 158 protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) TTCCAGGCCTCTTCTTGCTCT 0.542000 10 52 0 0 0.008291 0 0 LAMP3 27074 broad.mit.edu 37 3 182858380 182858380 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:182858380C>T ENST00000265598.3 - 4 1147 c.892G>A c.(892-894)Gaa>Aaa p.E298K LAMP3_ENST00000466939.1_Missense_Mutation_p.E274K NM_014398.3 NP_055213.2 Q9UQV4 LAMP3_HUMAN lysosomal-associated membrane protein 3 298 cell proliferation integral to membrane|lysosomal membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2) 28 all_cancers(143;9.14e-14)|Ovarian(172;0.0355) all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21) TATGATTCTTCATCCTGTAAA 0.373000 29 31 0 0 0.012213 0 0 SALL1 6299 broad.mit.edu 37 16 51175867 51175867 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:51175867G>A ENST00000251020.4 - 2 299 c.266C>T c.(265-267)cCc>cTc p.P89L SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_5'UTR NM_002968.2 NP_002959.2 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 89 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ATCAGGAGGGGGGCTGGGGGA 0.438000 14 98 0 0 0.004007 0 0 DNAH5 1767 broad.mit.edu 37 5 13882846 13882846 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:13882846C>T ENST00000265104.4 - 21 3357 c.3253G>A c.(3253-3255)Gaa>Aaa p.E1085K CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1085 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) CCTTGAAGTTCATTTTCTCCC 0.303000 Kartagener syndrome 9 29 0 0 0.006214 0 0 PLAA 9373 broad.mit.edu 37 9 26926415 26926415 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:26926415T>A ENST00000397292.3 - 5 1126 c.709A>T c.(709-711)Ata>Tta p.I237L PLAA_ENST00000520884.1_Missense_Mutation_p.I237L NM_001031689.2 NP_001026859.1 Q9Y263 PLAP_HUMAN phospholipase A2-activating protein 237 phospholipid metabolic process|signal transduction phospholipase A2 activator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 17 all_neural(3;3.53e-10)|Glioma(3;2.71e-09) Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011) AAAACGGATATGCTATAAATA 0.328000 19 59 0 0 0.010504 0 0 CDH2 1000 broad.mit.edu 37 18 25616441 25616441 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:25616441G>A ENST00000399380.3 - 1 108 c.72C>T c.(70-72)ttC>ttT p.F24F CDH2_ENST00000269141.3_Intron P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 0 adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TACCTGAAAGGAAAACATACA 0.313000 38 86 0 0 0.004289 0 0 NRXN3 9369 broad.mit.edu 37 14 79175824 79175824 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:79175824G>A ENST00000554719.1 + 4 858 c.367G>A c.(367-369)Gat>Aat p.D123N NRXN3_ENST00000335750.5_Missense_Mutation_p.D123N|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) AGAGAGGAAGGATGCTCGGAG 0.517000 29 49 0 0 0.007291 0 0 PRODH2 58510 broad.mit.edu 37 19 36290948 36290948 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:36290948G>A ENST00000301175.3 - 11 1620 c.1603C>T c.(1603-1605)Ccc>Tcc p.P535S NM_021232.1 NP_067055.1 Q9UF12 PROD2_HUMAN proline dehydrogenase (oxidase) 2 535 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGCTAGTGGGGTATCCTTCGG 0.632000 7 16 0 0 0.004482 0 0 UBIAD1 29914 broad.mit.edu 37 1 11345804 11345804 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:11345804C>T ENST00000376810.5 + 2 959 c.633C>T c.(631-633)gcC>gcT p.A211A UBIAD1_ENST00000376804.2_Intron NM_013319.2 NP_037451.1 Q9Y5Z9 UBIA1_HUMAN UbiA prenyltransferase domain containing 1 211 menaquinone biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus prenyltransferase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487) GGTCCCTGGCCATCTTCCCAC 0.592000 27 82 0 0 0.003271 0 0 FLG 2312 broad.mit.edu 37 1 152279679 152279679 + Silent SNP C C T rs143745201 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:152279679C>T ENST00000368799.1 - 3 7718 c.7683G>A c.(7681-7683)agG>agA p.R2561R FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2561 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.R2561R(1)|p.R2561S(1) 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) ATCCCCAGTTCCTGCTTGTCC 0.587000 Ichthyosis 65 168 0 0 0.014410 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101834348 101834348 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:101834348C>T ENST00000506729.1 - 1 372 c.201G>A c.(199-201)agG>agA p.R67R SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000389019.3_Silent_p.R67R|SLCO6A1_ENST00000379807.3_Silent_p.R67R|SLCO6A1_ENST00000379810.1_Silent_p.R67R|SLCO6A1_ENST00000513675.1_Silent_p.R67R Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 67 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) TGGCTTTTTTCCTTTTTCGGA 0.537000 27 73 0 0 0.008361 0 0 ABCB11 8647 broad.mit.edu 37 2 169792852 169792852 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:169792852C>T ENST00000263817.6 - 22 2826 c.2702G>A c.(2701-2703)aGc>aAc p.S901N NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 901 ABC transmembrane type-1 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) GATGACCAGGCTCAGCTTCCA 0.522000 15 28 0 0 0.002450 0 0 CYP8B1 1582 broad.mit.edu 37 3 42916031 42916031 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:42916031G>A ENST00000316161.4 - 1 1602 c.1278C>T c.(1276-1278)atC>atT p.I426I KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron|CYP8B1_ENST00000437102.1_Silent_p.I426I NM_004391.2 NP_004382.2 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, polypeptide 1 426 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5) 23 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) TGTAGTGGTGGATCTTCTTGC 0.542000 25 95 0 0 0.002780 0 0 TAS2R16 50833 broad.mit.edu 37 7 122634824 122634824 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:122634824C>T ENST00000249284.2 - 1 930 c.865G>A c.(865-867)Gga>Aga p.G289R NM_016945.2 NP_058641.1 Q9NYV7 T2R16_HUMAN taste receptor, type 2, member 16 289 detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TAGCACTTTCCCTTTAGAATC 0.418000 37 67 0 0 0.004289 0 0 COL4A3 1285 broad.mit.edu 37 2 228122341 228122341 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:228122341C>T ENST00000396578.3 + 18 1172 c.1010C>T c.(1009-1011)cCt>cTt p.P337L AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 337 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GACATTGGCCCTCCAGGATTT 0.358000 7 38 0 0 0.004482 0 0 CADPS 8618 broad.mit.edu 37 3 62631473 62631473 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:62631473G>A ENST00000383710.4 - 6 1598 c.1249C>T c.(1249-1251)Cgc>Tgc p.R417C CADPS_ENST00000357948.3_Missense_Mutation_p.R417C|CADPS_ENST00000490353.2_Missense_Mutation_p.R417C|CADPS_ENST00000283269.9_Missense_Mutation_p.R417C NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 417 C2. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) TATACGATGCGATTTGGAGCC 0.473000 36 97 0 0 0.007835 0 0 ZNF699 374879 broad.mit.edu 37 19 9406741 9406741 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9406741A>T ENST00000591998.1 - 6 1567 c.1339T>A c.(1339-1341)Tat>Aat p.Y447N ZNF699_ENST00000308650.3_Missense_Mutation_p.Y447N Q32M78 ZN699_HUMAN zinc finger protein 699 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TTACATTCATAGGGTTTCTCT 0.428000 11 29 0 0 0.010729 0 0 OR13H1 347468 broad.mit.edu 37 X 130678425 130678425 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:130678425C>T ENST00000338616.3 + 1 476 c.378C>T c.(376-378)atC>atT p.I126I NM_001004486.1 NP_001004486.1 Q8NG92 O13H1_HUMAN olfactory receptor, family 13, subfamily H, member 1 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 Acute lymphoblastic leukemia(192;0.000636) TGGTTGCTATCAGCAATCCCC 0.532000 54 19 0 0 0.014410 0 0 CACNA1B 774 broad.mit.edu 37 9 140953602 140953602 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:140953602C>T ENST00000277549.5 + 31 4702 c.2133C>T c.(2131-2133)tcC>tcT p.S711S CACNA1B_ENST00000371372.1_Silent_p.S1515S|CACNA1B_ENST00000371357.1_Silent_p.S1516S|CACNA1B_ENST00000277551.2_Silent_p.S1515S|CACNA1B_ENST00000371363.1_Silent_p.S1515S|CACNA1B_ENST00000371355.4_Silent_p.S1516S Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1515 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CCATGTTCTCCATGGAATGCG 0.502000 19 11 0 0 0.003954 0 0 C14orf105 55195 broad.mit.edu 37 14 57938251 57938251 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:57938251C>T ENST00000216445.3 - 6 849 c.713G>A c.(712-714)tGg>tAg p.W238* C14orf105_ENST00000422976.2_Nonsense_Mutation_p.W278*|C14orf105_ENST00000534126.1_Nonsense_Mutation_p.W237* NM_018168.2 NP_060638.2 Q9NVL8 CN105_HUMAN chromosome 14 open reading frame 105 238 breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1) 11 GCCAATTTTCCAGGGACAGTA 0.388000 6 16 0 0 0.001984 0 0 SPARC 6678 broad.mit.edu 37 5 151045993 151045993 + Missense_Mutation SNP C C G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:151045993C>G ENST00000231061.4 - 8 976 c.663G>C c.(661-663)gaG>gaC p.E221D SPARC_ENST00000537849.1_5'UTR NM_003118.3 NP_003109.1 P09486 SPRC_HUMAN secreted protein, acidic, cysteine-rich (osteonectin) 221 ossification|platelet activation|platelet degranulation|signal transduction basement membrane|extracellular space|platelet alpha granule lumen calcium ion binding|collagen binding central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(196;0.109)|all_hematologic(541;0.122) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) OV - Ovarian serous cystadenocarcinoma(192;0.00118) Becaplermin(DB00102) TATAGTTCTTCTCGAAGTCCC 0.557000 21 47 0 0 0.014323 0 0 SPEG 10290 broad.mit.edu 37 2 220332071 220332071 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:220332071C>T ENST00000312358.7 + 10 3189 c.3057C>T c.(3055-3057)ttC>ttT p.F1019F SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1019 Ig-like 4. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) AGATGCATTTCGATGGCCGCA 0.577000 17 68 0 0 0.004007 0 0 OR13F1 138805 broad.mit.edu 37 9 107267348 107267348 + Missense_Mutation SNP G G A rs140352060 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:107267348G>A ENST00000334726.2 + 1 894 c.805G>A c.(805-807)Gaa>Aaa p.E269K NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 269 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 AGATTCACAGGAAATAGACAA 0.468000 16 34 0 0 0.003163 0 0 LPAR4 2846 broad.mit.edu 37 X 78010384 78010384 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:78010384C>T ENST00000435339.2 + 2 423 c.18C>T c.(16-18)ttC>ttT p.F6F RP11-475D8.1_ENST00000514744.1_RNA|LPAR4_ENST00000373301.2_Silent_p.F6F NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 6 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 ACAGAAGATTCATTGACTTCC 0.438000 15 20 0 0 0.003163 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563698 140563698 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140563698G>A ENST00000361016.2 + 1 2719 c.1564G>A c.(1564-1566)Gag>Aag p.E522K NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 522 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTGGACTACGAGGCCCTGCG 0.701000 15 62 0 0 0.003163 0 0 ARG2 384 broad.mit.edu 37 14 68114885 68114885 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:68114885G>A ENST00000261783.3 + 7 1024 c.844G>A c.(844-846)Gaa>Aaa p.E282K VTI1B_ENST00000554659.1_3'UTR NM_001172.3 NP_001163.1 P78540 ARGI2_HUMAN arginase 2 282 arginine metabolic process|nitric oxide biosynthetic process|urea cycle mitochondrial matrix arginase activity|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1) 11 all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928) L-Arginine(DB00125)|L-Ornithine(DB00129) TATTGCTGAGGAAATACACAA 0.443000 4 40 0 0 0.009096 0 0 COL11A1 1301 broad.mit.edu 37 1 103444981 103444981 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:103444981C>T ENST00000358392.2 - 32 2920 c.2603G>A c.(2602-2604)gGa>gAa p.G868E COL11A1_ENST00000353414.4_Missense_Mutation_p.G817E|COL11A1_ENST00000370096.3_Missense_Mutation_p.G856E|COL11A1_ENST00000512756.1_Missense_Mutation_p.G740E NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 856 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.G868V(1)|p.G856V(1) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCCAGGGAATCCAGTGGAACC 0.338000 9 23 0 0 0.008291 0 0 GJB5 2709 broad.mit.edu 37 1 35223146 35223146 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:35223146C>T ENST00000338513.1 + 2 388 c.215C>T c.(214-216)tCc>tTc p.S72F NM_005268.3 NP_005259.1 O95377 CXB5_HUMAN gap junction protein, beta 5, 31.1kDa 72 cell communication|epidermis development connexon complex|integral to membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 Myeloproliferative disorder(586;0.0393) TTCCCTGTGTCCCATGTGCGC 0.602000 7 60 0 0 0.004482 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110471922 110471922 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:110471922G>A ENST00000378402.5 + 47 7207 c.7103G>A c.(7102-7104)gGa>gAa p.G2368E NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2368 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) ACACACTTAGGAATTACGGTC 0.373000 HNSCC(38;0.096) 3 12 0 0 0.004672 0 0 UNC93A 54346 broad.mit.edu 37 6 167705012 167705012 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:167705012C>T ENST00000230256.3 + 1 210 c.35C>T c.(34-36)tCc>tTc p.S12F UNC93A_ENST00000366829.2_Missense_Mutation_p.S12F|UNC93A_ENST00000366830.2_3'UTR NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) 12 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) CTTGTGGTTTCCTTTGGGTTC 0.453000 25 51 0 0 0.005443 0 0 BRINP3 339479 broad.mit.edu 37 1 190424004 190424004 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:190424004C>T ENST00000367462.3 - 2 248 c.17G>A c.(16-18)aGa>aAa p.R6K FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 6 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) AGCACCAGCTCTGCTTCGCCA 0.468000 9 15 0 0 0.004482 0 0 TTN 7273 broad.mit.edu 37 2 179404821 179404821 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179404821C>T ENST00000589042.1 - 351 98296 c.98072G>A c.(98071-98073)gGa>gAa p.G32691E TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G23626E|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G23751E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G30123E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G23818E|TTN_ENST00000591111.1_Missense_Mutation_p.G31050E|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31050 Ig-like 144. 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) TTTGACTGTTCCTGGTACCTC 0.468000 24 96 0 0 0.003954 0 0 COL3A1 1281 broad.mit.edu 37 2 189863020 189863020 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:189863020G>A ENST00000304636.3 + 28 2122 c.1952G>A c.(1951-1953)gGa>gAa p.G651E COL3A1_ENST00000317840.5_Missense_Mutation_p.G651E NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 651 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GGTCCTCCAGGAGAAAATGGA 0.363000 12 27 0 0 0.013537 0 0 MYO16 23026 broad.mit.edu 37 13 109707925 109707925 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:109707925T>C ENST00000356711.2 + 27 3377 c.3251T>C c.(3250-3252)tTc>tCc p.F1084S MYO16_ENST00000357550.2_Missense_Mutation_p.F1084S|MYO16_ENST00000457511.2_Missense_Mutation_p.F596S NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 1084 Myosin head-like 2. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CGCCTTTCCTTCTCGGATTTC 0.433000 13 83 0 0 0.004990 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18809104 18809104 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:18809104C>T ENST00000400664.1 + 1 1681 c.1629C>T c.(1627-1629)ttC>ttT p.F543F NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 543 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) ATTATCTCTTCGTGGTGTCCG 0.667000 24 40 0 0 0.003330 0 0 CCDC88C 440193 broad.mit.edu 37 14 91875016 91875016 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:91875016T>A ENST00000389857.6 - 3 343 c.257A>T c.(256-258)aAg>aTg p.K86M CCDC88C_ENST00000389856.5_Missense_Mutation_p.K78M|CCDC88C_ENST00000554165.1_5'UTR|CCDC88C_ENST00000553403.1_Missense_Mutation_p.K86M NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 86 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) GTAGTAGGTCTTAATGTTTCT 0.483000 5 28 0 0 0.000602 0 0 OR2K2 26248 broad.mit.edu 37 9 114090020 114090020 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:114090020C>T ENST00000374428.1 - 1 780 c.781G>A c.(781-783)Gga>Aga p.G261R OR2K2_ENST00000302681.1_Missense_Mutation_p.G232R Q8NGT1 OR2K2_HUMAN olfactory receptor, family 2, subfamily K, member 2 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2) 20 TTGTTTCTTCCCTCTGCTGAG 0.443000 5 18 0 0 0.001168 0 0 TMEM45A 55076 broad.mit.edu 37 3 100277280 100277280 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:100277280G>A ENST00000403410.1 + 6 1103 c.483G>A c.(481-483)cgG>cgA p.R161R TMEM45A_ENST00000323523.4_Silent_p.R145R Q9NWC5 TM45A_HUMAN transmembrane protein 45A 145 integral to membrane breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2) 11 CTCATGGCCGGGAAATGCTGG 0.483000 10 74 0 0 0.006214 0 0 ZNF251 90987 broad.mit.edu 37 8 145947750 145947750 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:145947750G>A ENST00000292562.7 - 5 1570 c.1295C>T c.(1294-1296)cCc>cTc p.P432L ZNF251_ENST00000524394.1_Intron NM_138367.1 NP_612376.1 Q9BRH9 ZN251_HUMAN zinc finger protein 251 432 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1) 17 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) ACAAACATAGGGTTTTTCTCC 0.458000 29 56 0 0 0.008361 0 0 GSTM3 2947 broad.mit.edu 37 1 110280150 110280150 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:110280150G>A ENST00000540225.1 - 8 818 c.508C>T c.(508-510)Cag>Tag p.Q170* GSTM3_ENST00000256594.3_Nonsense_Mutation_p.Q170*|GSTM3_ENST00000488824.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000361066.2_Nonsense_Mutation_p.Q170* P21266 GSTM3_HUMAN glutathione S-transferase mu 3 (brain) 170 GST C-terminal. establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus cytoplasm glutathione transferase activity|identical protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1) 9 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) ATACGGTTCTGATCCAAGATA 0.438000 5 78 0 0 0.001984 0 0 CNGA3 1261 broad.mit.edu 37 2 98996729 98996729 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:98996729C>T ENST00000393504.1 + 4 724 c.307C>T c.(307-309)Cgt>Tgt p.R103C CNGA3_ENST00000272602.2_Missense_Mutation_p.R103C|CNGA3_ENST00000436404.2_Missense_Mutation_p.R103C|CNGA3_ENST00000409937.1_Missense_Mutation_p.R107C NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 103 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 TGATCGTTTCCGTGGAGCCGA 0.597000 20 31 0 0 0.010504 0 0 TPGS2 25941 broad.mit.edu 37 18 34376949 34376949 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:34376949G>A ENST00000334295.4 - 7 1149 c.722C>T c.(721-723)tCc>tTc p.S241F TPGS2_ENST00000590652.1_Intron|TPGS2_ENST00000590842.1_Intron|TPGS2_ENST00000587129.1_Intron|TPGS2_ENST00000383056.3_Missense_Mutation_p.S198F|TPGS2_ENST00000593035.1_Missense_Mutation_p.S206F NM_015476.2 NP_056291.2 Q68CL5 TPGS2_HUMAN tubulin polyglutamylase complex subunit 2 241 cytoplasm|microtubule ATTCACAAAGGAGTCGGTCTC 0.443000 23 99 0 0 0.014323 0 0 WDR49 151790 broad.mit.edu 37 3 167240194 167240194 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:167240194C>T ENST00000308378.3 - 12 1932 c.1627G>A c.(1627-1629)Gaa>Aaa p.E543K WDR49_ENST00000476376.1_Missense_Mutation_p.E368K|WDR49_ENST00000453925.2_Intron|WDR49_ENST00000479765.1_Intron NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 543 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 AAAGAAATTTCCTTTTGAATC 0.318000 17 33 0 0 0.004990 0 0 UNC93B1 81622 broad.mit.edu 37 11 67765196 67765196 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:67765196G>A ENST00000227471.2 - 7 934 c.855C>T c.(853-855)ctC>ctT p.L285L UNC93B1_ENST00000530331.1_5'UTR NM_030930.2 NP_112192.2 Q9H1C4 UN93B_HUMAN unc-93 homolog B1 (C. elegans) 285 innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome CCACCACAATGAGGTTTCCGC 0.647000 8 29 0 0 0.003080 0 0 SCNN1G 6340 broad.mit.edu 37 16 23197607 23197607 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:23197607G>A ENST00000300061.2 + 2 158 c.15G>A c.(13-15)gaG>gaA p.E5E NM_001039.3 NP_001030.2 P51170 SCNNG_HUMAN sodium channel, non-voltage-gated 1, gamma subunit 5 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) CACCCGGAGAGAAGATCAAAG 0.587000 8 25 0 0 0.003080 0 0 OR52A1 23538 broad.mit.edu 37 11 5173510 5173510 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:5173510C>T ENST00000380367.1 - 2 507 c.90G>A c.(88-90)ggG>ggA p.G30G OR52A1_ENST00000328942.1_Silent_p.G30G Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, member 1 30 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) AGAATGGAATCCCAATCCAGC 0.458000 15 30 0 0 0.002450 0 0 KRT3 3850 broad.mit.edu 37 12 53186500 53186500 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:53186500C>T ENST00000417996.2 - 4 1092 c.1018G>A c.(1018-1020)Gac>Aac p.D340N KRT3_ENST00000309505.3_Missense_Mutation_p.D340N NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 340 Coil 1B.|Rod. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 CTTACAGCGTCGTAGAGGGTC 0.473000 99 73 0 0 0.014410 0 0 CLTCL1 8218 broad.mit.edu 37 22 19203732 19203732 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:19203732G>A ENST00000263200.10 - 19 3026 c.2954C>T c.(2953-2955)cCt>cTt p.P985L CLTCL1_ENST00000353891.5_Missense_Mutation_p.P985L|CLTCL1_ENST00000427926.1_Missense_Mutation_p.P985L NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 985 Heavy chain arm.|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) AATCTCTTCAGGATCCCGTGT 0.403000 T ? ALCL 19 30 0 0 0.008871 0 0 STEAP4 79689 broad.mit.edu 37 7 87912231 87912231 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:87912231G>A ENST00000380079.4 - 3 810 c.709C>T c.(709-711)Cgt>Tgt p.R237C AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Intron|STEAP4_ENST00000414498.1_Missense_Mutation_p.R237C|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000595121.1_RNA NM_001205315.1|NM_024636.3 NP_001192244.1|NP_078912.2 Q687X5 STEA4_HUMAN STEAP family member 4 237 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) ATAGCCATACGAAATGTATTA 0.363000 10 39 0 0 0.010729 0 0 HECTD1 25831 broad.mit.edu 37 14 31598524 31598524 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:31598524G>A ENST00000399332.1 - 25 4541 c.4053C>T c.(4051-4053)tcC>tcT p.S1351S HECTD1_ENST00000553700.1_Silent_p.S1351S NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 1351 Ser-rich. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) CTGAAACAGTGGATGAAACAG 0.493000 50 49 0 0 0.014410 0 0 UNC13C 440279 broad.mit.edu 37 15 54586115 54586115 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:54586115C>T ENST00000545554.1 + 10 3841 c.3841C>T c.(3841-3843)Cga>Tga p.R1281* UNC13C_ENST00000260323.11_Nonsense_Mutation_p.R1281*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.R1279* Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1281 C2 1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CTCCACAGATCGAATCAAAGT 0.323000 4 41 0 0 0.009096 0 0 FGL2 10875 broad.mit.edu 37 7 76825644 76825644 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:76825644G>A ENST00000248598.5 - 2 1304 c.1272C>T c.(1270-1272)tcC>tcT p.S424S RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron NM_006682.2 NP_006673.1 Q14314 FGL2_HUMAN fibrinogen-like 2 424 Fibrinogen C-terminal. signal transduction fibrinogen complex receptor binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 13 CCTCTTTGAAGGAGGACTTGT 0.438000 4 35 0 0 0.009096 0 0 CIC 23152 broad.mit.edu 37 19 42798877 42798877 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:42798877C>T ENST00000572681.2 + 20 7235 c.7167C>T c.(7165-7167)ttC>ttT p.F2389F CIC_ENST00000160740.3_Silent_p.F1481F|CIC_ENST00000575354.2_Silent_p.F1483F Q96RK0 CIC_HUMAN capicua transcriptional repressor 1483 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) ACCATGGCTTCTTCCCGTCAG 0.592000 """Mis, F, S""" oligodendroglioma 29 54 0 0 0.013726 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858327 9858327 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:9858327G>A ENST00000396573.2 - 14 3383 c.3074C>T c.(3073-3075)tCa>tTa p.S1025L GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1025L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.S868L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.S1025L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1025L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.S1025L NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1025 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.S1025L(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CTGGGATAGTGAATCCTGGCG 0.542000 28 114 0 0 0.009535 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70712964 70712964 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:70712964C>T ENST00000530196.1 - 0 1554 NR_003951.1 TCTGGAAGGTCACATTCATTG 0.483000 18 20 0 0 0.004990 0 0 GBP5 115362 broad.mit.edu 37 1 89729432 89729432 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:89729432C>T ENST00000343435.5 - 9 1885 c.1349G>A c.(1348-1350)cGg>cAg p.R450Q GBP5_ENST00000370459.3_Missense_Mutation_p.R450Q|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000481145.1_5'UTR NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 450 plasma membrane GTP binding|GTPase activity breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) TATTCCTTTCCGAGGCTCCCG 0.433000 35 64 0 0 0.006230 0 0 ARMC4 55130 broad.mit.edu 37 10 28224012 28224012 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:28224012C>T ENST00000305242.5 - 16 2514 c.2422G>A c.(2422-2424)Gga>Aga p.G808R ARMC4_ENST00000545014.1_Missense_Mutation_p.G333R|ARMC4_ENST00000537576.1_Missense_Mutation_p.G500R NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 808 binding p.G808R(1) 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 TGGTTTATTCCAACAAGGAGG 0.458000 20 59 0 0 0.008871 0 0 NLRP4 147945 broad.mit.edu 37 19 56372834 56372834 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:56372834G>A ENST00000301295.6 + 4 2361 c.1939G>A c.(1939-1941)Gac>Aac p.D647N NLRP4_ENST00000587891.1_Missense_Mutation_p.D572N|NLRP4_ENST00000346986.5_Missense_Mutation_p.D647N NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 647 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CCAGGTGCAGGACAGCACCCT 0.567000 19 40 0 0 0.008871 0 0 ZNF582 147948 broad.mit.edu 37 19 56895941 56895941 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:56895941G>A ENST00000301310.4 - 5 1003 c.845C>T c.(844-846)cCc>cTc p.P282L ZNF582_ENST00000586929.1_Missense_Mutation_p.P282L NM_144690.1 NP_653291.1 Q96NG8 ZN582_HUMAN zinc finger protein 582 282 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) ACACTGATAGGGTTTCTCGCC 0.418000 10 37 0 0 0.010729 0 0 SPINK5 11005 broad.mit.edu 37 5 147506639 147506639 + Silent SNP T T G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:147506639T>G ENST00000359874.3 + 31 3124 c.3051T>G c.(3049-3051)tcT>tcG p.S1017S SPINK5_ENST00000256084.7_Silent_p.S987S NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 987 Kazal-like 15. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTTCAGTTCTCTGGTAAGGA 0.388000 6 19 0 0 0.003080 0 0 FCER1A 2205 broad.mit.edu 37 1 159275788 159275788 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:159275788C>T ENST00000368115.1 + 5 441 c.342C>T c.(340-342)ctC>ctT p.L114L FCER1A_ENST00000368114.1_Silent_p.L81L NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 114 Ig-like 2. integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) ACTGGCTGCTCCTTCAGGCCT 0.453000 14 22 0 0 0.002450 0 0 PWWP2A 114825 broad.mit.edu 37 5 159520276 159520276 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:159520276G>A ENST00000456329.3 - 2 1415 c.1381C>T c.(1381-1383)Cga>Tga p.R461* PWWP2A_ENST00000307063.7_Nonsense_Mutation_p.R461*|PWWP2A_ENST00000523662.1_Nonsense_Mutation_p.R461* NM_052927.2 NP_443159.1 Q96N64 PWP2A_HUMAN PWWP domain containing 2A 461 kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTCTGATATCGACGTGTGAAA 0.418000 6 23 0 0 0.001984 0 0 PLCB4 5332 broad.mit.edu 37 20 9416235 9416235 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:9416235G>A ENST00000378501.2 + 25 2532 c.2517G>A c.(2515-2517)aaG>aaA p.K839K PLCB4_ENST00000378493.1_Silent_p.K839K|PLCB4_ENST00000414679.2_Silent_p.K851K|PLCB4_ENST00000278655.4_Silent_p.K839K|PLCB4_ENST00000378473.3_Silent_p.K851K|PLCB4_ENST00000334005.3_Silent_p.K839K|PLCB4_ENST00000492632.1_3'UTR NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 839 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.K839N(1) 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 CAGATCCAAAGAAATTTCTCT 0.363000 22 47 0 0 0.012319 0 0 GPC3 2719 broad.mit.edu 37 X 132730510 132730510 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:132730510C>T ENST00000370818.3 - 7 1976 c.1531G>A c.(1531-1533)Gat>Aat p.D511N GPC3_ENST00000394299.2_Missense_Mutation_p.D534N|GPC3_ENST00000543339.1_Missense_Mutation_p.D457N NM_001164618.1|NM_004484.3 NP_001158090.1|NP_004475.1 P51654 GPC3_HUMAN glypican 3 511 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2) 36 Acute lymphoblastic leukemia(192;0.000127) ATCATTCCATCACCAGAGCCT 0.428000 """T, D, Mis, N, F, S""" Wilms tumour Simpson-Golabi-Behmel syndrome 38 23 0 0 0.009718 0 0 MCUR1 63933 broad.mit.edu 37 6 13801537 13801537 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:13801537G>A ENST00000379170.4 - 4 862 c.724C>T c.(724-726)Ctc>Ttc p.L242F NM_001031713.3 NP_001026883.1 mitochondrial calcium uniporter regulator 1 TCTGCTCTGAGGGCTGAAAAT 0.333000 36 103 0 0 0.011902 0 0 AMOTL2 51421 broad.mit.edu 37 3 134089734 134089734 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:134089734G>A ENST00000514516.1 - 2 894 c.716C>T c.(715-717)tCc>tTc p.S239F AMOTL2_ENST00000513145.1_Missense_Mutation_p.S181F|AMOTL2_ENST00000511759.1_Intron|AMOTL2_ENST00000249883.5_Missense_Mutation_p.S181F|AMOTL2_ENST00000422605.2_Missense_Mutation_p.S181F NM_001278683.1 NP_001265612.1 Q9Y2J4 AMOL2_HUMAN angiomotin like 2 181 endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 19 GAAGCTGTGGGAGGAGCTCAT 0.697000 11 22 0 0 0.008291 0 0 TTN 7273 broad.mit.edu 37 2 179590236 179590236 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179590236C>T ENST00000589042.1 - 71 20919 c.20695G>A c.(20695-20697)Gaa>Aaa p.E6899K RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E5655K|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E6582K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6582 Ig-like 50. 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) CTGATGTTTTCACTTTCTCTA 0.418000 9 43 0 0 0.006214 0 0 SPINK5 11005 broad.mit.edu 37 5 147486600 147486600 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:147486600G>A ENST00000359874.3 + 17 1553 c.1479_splice c.e17-1 p.E494_splice SPINK5_ENST00000398454.1_Splice_Site_p.E494_splice|SPINK5_ENST00000256084.7_Splice_Site_p.E494_splice NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 494 Kazal-like 8. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATTTCCCAGGAAATCTGCAG 0.393000 8 27 0 0 0.004482 0 0 FLG2 388698 broad.mit.edu 37 1 152328559 152328559 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:152328559C>T ENST00000388718.5 - 3 1775 c.1703G>A c.(1702-1704)gGa>gAa p.G568E FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 568 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) CCCATGTTGTCCAAAGCCAGA 0.517000 95 167 0 0 0.014410 0 0 CCT5 22948 broad.mit.edu 37 5 10256136 10256136 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:10256136C>T ENST00000280326.4 + 4 821 c.401C>T c.(400-402)gCc>gTc p.A134V CCT5_ENST00000506600.1_Missense_Mutation_p.A41V|CCT5_ENST00000503026.1_Missense_Mutation_p.A113V|CCT5_ENST00000515390.1_Missense_Mutation_p.A79V|CCT5_ENST00000515676.1_Missense_Mutation_p.A96V NM_012073.3 NP_036205.1 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 134 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2) 26 ATCAGAATAGCCGATGGCTAT 0.502000 9 14 0 0 0.010729 0 0 LRP1 4035 broad.mit.edu 37 12 57589508 57589508 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:57589508C>T ENST00000243077.3 + 53 8971 c.8505C>T c.(8503-8505)ttC>ttT p.F2835F NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2835 LDL-receptor class A 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) CCAAGCACTTCGTGTGTGACC 0.622000 10 32 0 0 0.008291 0 0 TSEN34 79042 broad.mit.edu 37 19 54695980 54695980 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:54695980C>T ENST00000396383.1 + 4 812 c.501C>T c.(499-501)tcC>tcT p.S167S TSEN34_ENST00000302937.4_Silent_p.S167S|TSEN34_ENST00000429671.2_Silent_p.S167S|TSEN34_ENST00000396388.2_Silent_p.S167S Q9BSV6 SEN34_HUMAN TSEN34 tRNA splicing endonuclease subunit 167 mRNA processing|tRNA-type intron splice site recognition and cleavage nucleolus|tRNA-intron endonuclease complex nucleic acid binding|tRNA-intron endonuclease activity endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTCGTCTTCCCAAGCAGGAC 0.607000 12 54 0 0 0.001855 0 0 GFRA1 2674 broad.mit.edu 37 10 117884979 117884979 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:117884979T>C ENST00000439649.3 - 5 875 c.508A>G c.(508-510)Atc>Gtc p.I170V GFRA1_ENST00000369236.1_Missense_Mutation_p.I170V|GFRA1_ENST00000355422.6_Missense_Mutation_p.I175V|GFRA1_ENST00000544592.1_Missense_Mutation_p.I54V NM_001145453.1 NP_001138925.1 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 175 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) CACGGGGTGATGTACGCCGAC 0.582000 6 16 0 0 0.001168 0 0 MYH1 4619 broad.mit.edu 37 17 10412965 10412965 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:10412965C>T ENST00000226207.5 - 15 1518 c.1424G>A c.(1423-1425)aGc>aAc p.S475N CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 475 Myosin head-like. 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 CTGCTCCAGGCTGTTGAACTA 0.398000 30 28 0 0 0.010818 0 0 APOBEC3F 200316 broad.mit.edu 37 22 39445537 39445537 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:39445537T>C ENST00000308521.5 + 5 1031 c.674T>C c.(673-675)gTa>gCa p.V225A APOBEC3G_ENST00000452957.2_Intron NM_145298.5 NP_660341.2 Q9HC16 ABC3G_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F 227 base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2) 16 Melanoma(58;0.04) ATGGAAGTTGTAAAGCACCAC 0.478000 46 56 0 0 0.014410 0 0 IGKV1D-43 28891 broad.mit.edu 37 2 90249257 90249257 + RNA SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:90249257T>A ENST00000468879.1 + 0 394 TCTTCATCTATTATGCATCCA 0.502000 30 110 0 0 0.013726 0 0 MSR1 4481 broad.mit.edu 37 8 15978105 15978105 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:15978105C>T ENST00000262101.5 - 9 1165 c.1044G>A c.(1042-1044)acG>acA p.T348T MSR1_ENST00000445506.2_Silent_p.T366T|MSR1_ENST00000355282.2_Intron|MSR1_ENST00000350896.3_Intron P21757 MSRE_HUMAN macrophage scavenger receptor 1 348 cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) GTCGAACTTTCGTAAATGGAG 0.433000 17 27 0 0 0.004990 0 0 KLHL41 10324 broad.mit.edu 37 2 170367288 170367288 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:170367288C>T ENST00000284669.1 + 1 1077 c.1000C>T c.(1000-1002)Ccc>Tcc p.P334S RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron NM_006063.2 NP_006054.2 kelch-like family member 41 TGAGCAGATTCCCAGAAATCA 0.423000 9 65 0 0 0.008291 0 0 CATSPER4 378807 broad.mit.edu 37 1 26526468 26526468 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:26526468C>T ENST00000456354.2 + 7 973 c.906C>T c.(904-906)ttC>ttT p.F302F NM_198137.1 NP_937770.1 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 302 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) TCAACCTGTTCGTCATCGTGG 0.517000 12 20 0 0 0.010729 0 0 HERC2P2 400322 broad.mit.edu 37 15 23300012 23300012 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:23300012G>A ENST00000560464.1 - 0 4275 GCTGCACCACGATCGGCAGAG 0.602000 8 8 0 0 0.003080 0 0 WBSCR17 64409 broad.mit.edu 37 7 70853359 70853359 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:70853359C>T ENST00000333538.5 + 3 1195 c.561C>T c.(559-561)atC>atT p.I187I WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 187 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TGAAGGAAATCATTCTGGTGG 0.542000 4 25 0 0 0.009096 0 0 CSMD1 64478 broad.mit.edu 37 8 3081268 3081268 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:3081268G>A ENST00000520002.1 - 29 5025 c.4470C>T c.(4468-4470)atC>atT p.I1490I CSMD1_ENST00000602557.1_Silent_p.I1490I|CSMD1_ENST00000542608.1_Silent_p.I1489I|CSMD1_ENST00000400186.3_Silent_p.I1490I|CSMD1_ENST00000602723.1_Silent_p.I1490I|CSMD1_ENST00000539096.1_Silent_p.I1489I|CSMD1_ENST00000537824.1_Silent_p.I1489I|CSMD1_ENST00000523387.1_5'UTR Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1490 CUB 9. integral to membrane p.I1489I(1)|p.I1218I(1) 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) ATATCAAGGCGATGACAAAGT 0.428000 14 55 0 0 0.004007 0 0 GPR179 440435 broad.mit.edu 37 17 36499484 36499484 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:36499484G>A ENST00000342292.4 - 1 209 c.189C>T c.(187-189)ctC>ctT p.L63L NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 63 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CTCCAGAGTAGAGATAAGCGA 0.632000 26 35 0 0 0.005443 0 0 ZAN 7455 broad.mit.edu 37 7 100382394 100382394 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:100382394G>A ENST00000542585.1 + 0 6917 ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_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) TGTGCTGAGTGAAGACAAGTG 0.612000 6 16 0 0 0.001168 0 0 ZDBF2 57683 broad.mit.edu 37 2 207171359 207171359 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:207171359C>T ENST00000374423.3 + 5 2493 c.2107C>T c.(2107-2109)Cgt>Tgt p.R703C NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 703 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TCAGTCTAGCCGTTCTTCTCT 0.408000 15 21 0 0 0.002450 0 0 HYDIN 54768 broad.mit.edu 37 16 71127722 71127722 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:71127722C>T ENST00000393567.2 - 11 1594 c.1444G>A c.(1444-1446)Gag>Aag p.E482K HYDIN_ENST00000448089.2_Missense_Mutation_p.E482K|HYDIN_ENST00000448691.1_Missense_Mutation_p.E482K|HYDIN_ENST00000538248.1_Missense_Mutation_p.E509K|HYDIN_ENST00000541601.1_Missense_Mutation_p.E499K|HYDIN_ENST00000393550.2_Missense_Mutation_p.E482K|HYDIN_ENST00000288168.10_Missense_Mutation_p.E499K|HYDIN_ENST00000321489.5_Missense_Mutation_p.E482K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 482 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GTGCTTACCTCATAACAATGT 0.388000 6 22 0 0 0.001984 0 0 SPRR2D 6703 broad.mit.edu 37 1 153012660 153012660 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:153012660G>A ENST00000368757.1 - 2 443 c.163C>T c.(163-165)Cct>Tct p.P55S SPRR2D_ENST00000368756.1_Missense_Mutation_p.P55S|SPRR2D_ENST00000360379.3_Missense_Mutation_p.P55S|SPRR2D_ENST00000368758.3_Missense_Mutation_p.P55S P22532 SPR2D_HUMAN small proline-rich protein 2D 55 keratinization cornified envelope|cytoplasm p.P55S(1) endometrium(1)|skin(1) 2 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) GTCACAGGAGGATATTTCTGC 0.557000 65 198 0 0 0.014410 0 0 S100A8 6279 broad.mit.edu 37 1 153362599 153362599 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:153362599C>T ENST00000368733.3 - 3 431 c.262G>A c.(262-264)Gaa>Aaa p.E88K S100A8_ENST00000368732.1_Missense_Mutation_p.E88K NM_002964.4 NP_002955.2 P05109 S10A8_HUMAN S100 calcium binding protein A8 88 VAAHKKSHEESHKE -> WQPTKKAMKKATKSS (in Ref. 1; CAA68390). chemotaxis cytoplasm|cytoskeleton|plasma membrane calcium ion binding|protein binding breast(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) TGGCTTTCTTCATGGCTTTTT 0.473000 25 110 0 0 0.003954 0 0 CACNA1S 779 broad.mit.edu 37 1 201046156 201046156 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:201046156G>A ENST00000362061.3 - 12 1945 c.1719C>T c.(1717-1719)ttC>ttT p.F573F CACNA1S_ENST00000367338.3_Silent_p.F573F NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 573 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CCAGGAGGGCGAAGATGACGA 0.567000 6 70 0 0 0.001168 0 0 OR10A6 390093 broad.mit.edu 37 11 7950088 7950088 + Missense_Mutation SNP C C T rs139869925 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:7950088C>T ENST00000309838.2 - 1 121 c.122G>A c.(121-123)gGa>gAa p.G41E NM_001004461.1 NP_001004461.1 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, member 6 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AATGGCATTTCCTATCAGGGT 0.468000 15 61 0 0 0.004007 0 0 SRGAP3 9901 broad.mit.edu 37 3 9034637 9034637 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:9034637G>A ENST00000383836.3 - 20 2938 c.2511C>T c.(2509-2511)tcC>tcT p.S837S SRGAP3_ENST00000360413.3_Silent_p.S813S NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 837 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) GCTCCGTGGGGGACTGGAGGT 0.562000 T RAF1 pilocytic astrocytoma 21 40 0 0 0.010504 0 0 C2CD2 25966 broad.mit.edu 37 21 43332482 43332482 + Silent SNP C C T rs148517689 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr21:43332482C>T ENST00000380486.3 - 7 1153 c.912G>A c.(910-912)acG>acA p.T304T C2CD2_ENST00000329623.7_Silent_p.T149T NM_015500.1 NP_056315.1 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 304 C2. cytosol|extracellular region|nucleus endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 GAGTGTTTTTCGTCAGGGTGC 0.542000 10 6 0 0 0.001855 0 0 CNTN5 53942 broad.mit.edu 37 11 100221454 100221454 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:100221454C>T ENST00000524871.1 + 24 3342 c.3052C>T c.(3052-3054)Cac>Tac p.H1018Y CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.H944Y|CNTN5_ENST00000528682.1_Missense_Mutation_p.H1018Y|CNTN5_ENST00000279463.3_Missense_Mutation_p.H1018Y NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 1018 Fibronectin type-III 4. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GCAAGAGGGTCACAGCAACAG 0.383000 6 29 0 0 0.001168 0 0 OR10G8 219869 broad.mit.edu 37 11 123900509 123900509 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:123900509C>T ENST00000431524.1 + 1 213 c.180C>T c.(178-180)ttC>ttT p.F60F NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 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) TGTACTACTTCCTCACCAACC 0.532000 9 62 0 0 0.006214 0 0 UBE2C 11065 broad.mit.edu 37 20 44443052 44443052 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:44443052C>T ENST00000405520.1 + 2 879 c.42C>T c.(40-42)ttC>ttT p.F14F UBE2C_ENST00000496085.1_3'UTR|UBE2C_ENST00000372568.4_Silent_p.F14F|UBE2C_ENST00000335046.3_Silent_p.F53F|UBE2C_ENST00000243893.6_Intron|UBE2C_ENST00000356455.4_Silent_p.F53F|UBE2C_ENST00000352551.5_Intron NM_181802.1 NP_861518.1 O00762 UBE2C_HUMAN ubiquitin-conjugating enzyme E2C 53 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization anaphase-promoting complex|cytosol|nucleoplasm ATP binding|protein binding|ubiquitin-protein ligase activity large_intestine(2)|lung(2)|skin(1) 5 Myeloproliferative disorder(115;0.0122) TTTCTGCCTTCCCTGAATCAG 0.493000 6 50 0 0 0.001984 0 0 PCLO 27445 broad.mit.edu 37 7 82475901 82475901 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:82475901G>A ENST00000423517.2 - 12 14150 c.13813C>T c.(13813-13815)Cat>Tat p.H4605Y PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Missense_Mutation_p.H4605Y NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4493 C2 1. 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 GGTGGCTCATGAAGTTCCAGA 0.333000 9 32 0 0 0.004482 0 0 KIAA1958 158405 broad.mit.edu 37 9 115421617 115421617 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:115421617C>T ENST00000337530.6 + 4 1715 c.1419C>T c.(1417-1419)ttC>ttT p.F473F KIAA1958_ENST00000536272.1_Silent_p.F501F NM_133465.2 NP_597722.1 Q8N8K9 K1958_HUMAN KIAA1958 473 endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 GCTCGGACTTCCTGGCCACCT 0.547000 18 26 0 0 0.004990 0 0 USH2A 7399 broad.mit.edu 37 1 216498891 216498891 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:216498891G>A ENST00000366943.2 - 6 1285 c.899C>T c.(898-900)tCa>tTa p.S300L USH2A_ENST00000307340.3_Missense_Mutation_p.S300L|USH2A_ENST00000366942.3_Missense_Mutation_p.S300L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 300 Laminin N-terminal. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACGGCAATGTGATTGGGCATG 0.502000 HNSCC(13;0.011) 6 32 0 0 0.001984 0 0 SCN5A 6331 broad.mit.edu 37 3 38647622 38647622 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:38647622C>T ENST00000413689.1 - 10 1351 c.1158G>A c.(1156-1158)ggG>ggA p.G386G SCN5A_ENST00000449557.2_Silent_p.G386G|SCN5A_ENST00000451551.2_Silent_p.G386G|SCN5A_ENST00000425664.1_Silent_p.G386G|SCN5A_ENST00000423572.2_Silent_p.G386G|SCN5A_ENST00000450102.2_Silent_p.G386G|SCN5A_ENST00000455624.2_Silent_p.G386G|SCN5A_ENST00000414099.2_Silent_p.G386G|SCN5A_ENST00000333535.4_Silent_p.G386G|SCN5A_ENST00000443581.1_Silent_p.G386G NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 386 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) TGTAGATCTTCCCTGCGGACC 0.557000 17 29 0 0 0.010504 0 0 EMILIN2 84034 broad.mit.edu 37 18 2891813 2891813 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:2891813G>A ENST00000254528.3 + 4 1847 c.1688G>A c.(1687-1689)gGg>gAg p.G563E NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 563 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) AAGCCTCATGGGATGGAAGGT 0.488000 11 47 0 0 0.010729 0 0 MYO3A 53904 broad.mit.edu 37 10 26465757 26465757 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:26465757C>T ENST00000265944.5 + 31 4587 c.4421C>T c.(4420-4422)tCt>tTt p.S1474F MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1474 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 CGAGTTTCTTCTCAGCAGTGC 0.373000 8 30 0 0 0.008291 0 0 LRG1 116844 broad.mit.edu 37 19 4538810 4538810 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:4538810G>A ENST00000306390.6 - 2 646 c.186C>T c.(184-186)atC>atT p.I62I LRG1_ENST00000586883.1_5'UTR|CTB-50L17.14_ENST00000586020.1_Intron NM_052972.2 NP_443204.1 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 62 extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) GGTAGCCGGGGATTTCGGCAG 0.637000 16 56 0 0 0.007413 0 0 PARM1 25849 broad.mit.edu 37 4 75938106 75938106 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:75938106C>T ENST00000307428.7 + 2 727 c.515C>T c.(514-516)tCc>tTc p.S172F RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron NM_015393.3 NP_056208.2 Q6UWI2 PARM1_HUMAN prostate androgen-regulated mucin-like protein 1 172 positive regulation of telomerase activity early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane cervix(1)|endometrium(2)|lung(4)|ovary(1) 8 TTTTCTGCCTCCGTTACTACC 0.582000 49 81 0 0 0.014410 0 0 LRRC31 79782 broad.mit.edu 37 3 169557796 169557796 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:169557796G>A ENST00000316428.5 - 9 1690 c.1633C>T c.(1633-1635)Cac>Tac p.H545Y LRRC31_ENST00000523069.1_3'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.H489Y NM_001277127.1|NM_024727.2 NP_001264056.1|NP_079003.2 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 545 cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) TGGTCAAAGTGAATGCTTCTT 0.403000 13 32 0 0 0.002450 0 0 MROH9 80133 broad.mit.edu 37 1 170967413 170967413 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:170967413G>A ENST00000367759.4 + 15 1748 c.1594G>A c.(1594-1596)Gaa>Aaa p.E532K MROH9_ENST00000367758.3_Missense_Mutation_p.E532K NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 ATTCCTCACTGAAGTGAGTTT 0.398000 26 49 0 0 0.006320 0 0 OR51F1 256892 broad.mit.edu 37 11 4790428 4790428 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:4790428G>A ENST00000380383.1 - 1 740 c.741C>T c.(739-741)ttC>ttT p.F247F OR51F1_ENST00000343430.3_Silent_p.F240F|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, member 1 240 integral to membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) CACAGGTGCTGAAGACCTTGT 0.488000 21 36 0 0 0.012319 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883574 228883574 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:228883574C>T ENST00000392056.3 - 7 2042 c.1996G>A c.(1996-1998)Gaa>Aaa p.E666K SPHKAP_ENST00000344657.5_Missense_Mutation_p.E666K NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 666 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TGTGCCAGTTCATTCCTGACG 0.443000 40 64 0 0 0.008740 0 0 FAM129A 116496 broad.mit.edu 37 1 184764422 184764422 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:184764422C>T ENST00000367511.3 - 14 2669 c.2476G>A c.(2476-2478)Gaa>Aaa p.E826K FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 826 Glu-rich. 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 CCTCTTCCTTCATGGGCAGTG 0.647000 15 39 0 0 0.003163 0 0 MROH2B 133558 broad.mit.edu 37 5 41065475 41065475 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:41065475C>T ENST00000399564.4 - 4 769 c.319G>A c.(319-321)Gaa>Aaa p.E107K NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B ACAACGAATTCATCTGGTAGC 0.418000 6 16 0 0 0.001168 0 0 ROBO2 6092 broad.mit.edu 37 3 77638049 77638049 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:77638049G>A ENST00000461745.1 + 17 3548 c.2648G>A c.(2647-2649)cGa>cAa p.R883Q ROBO2_ENST00000487694.3_Missense_Mutation_p.R899Q|ROBO2_ENST00000332191.8_Missense_Mutation_p.R883Q NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 883 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TTGTATTGGCGAAGAAAGAAG 0.418000 26 50 0 0 0.009535 0 0 OR10X1 128367 broad.mit.edu 37 1 158549442 158549442 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:158549442G>A ENST00000368150.1 - 1 247 c.248C>T c.(247-249)tCc>tTc p.S83F NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) CTCAGAGAAGGAGAGTGCACT 0.502000 20 53 0 0 0.003954 0 0 AHNAK2 113146 broad.mit.edu 37 14 105414692 105414692 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:105414692G>A ENST00000333244.5 - 7 7215 c.7096C>T c.(7096-7098)Ctc>Ttc p.L2366F AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2366 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) TGAACGCTGAGGTCAGTGGTC 0.652000 31 116 0 0 0.010818 0 0 C16orf78 123970 broad.mit.edu 37 16 49430414 49430414 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:49430414C>T ENST00000299191.3 + 4 592 c.475C>T c.(475-477)Ccc>Tcc p.P159S NM_144602.2 NP_653203.1 Q8WTQ4 CP078_HUMAN chromosome 16 open reading frame 78 159 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1) 22 TGTCTTAGATCCCATGTTACA 0.493000 22 42 0 0 0.012319 0 0 AKR1B1 231 broad.mit.edu 37 7 134134532 134134532 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:134134532G>A ENST00000285930.4 - 4 448 c.369C>T c.(367-369)ttC>ttT p.F123F AKR1B1_ENST00000489022.1_5'UTR NM_001628.2 NP_001619.1 P15121 ALDR_HUMAN aldo-keto reductase family 1, member B1 (aldose reductase) 123 C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress cytosol|extracellular space|nucleus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2) 14 NADH(DB00157)|Sulindac(DB00605) CATCCAATGGGAAAAATTCCT 0.468000 53 79 0 0 0.014410 0 0 OR2Y1 134083 broad.mit.edu 37 5 180166600 180166600 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:180166600G>A ENST00000307832.2 - 1 499 c.459C>T c.(457-459)ttC>ttT p.F153F NM_001001657.1 NP_001001657.1 Q8NGV0 OR2Y1_HUMAN olfactory receptor, family 2, subfamily Y, member 1 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAGAGTTCACGAAACCCGCAC 0.552000 4 14 0 0 0.009096 0 0 ACOT12 134526 broad.mit.edu 37 5 80643737 80643737 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:80643737T>A ENST00000307624.3 - 6 537 c.509A>T c.(508-510)gAt>gTt p.D170V NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 170 Acyl coenzyme A hydrolase 2. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) TTCCTCTTCATCAAAAATGAG 0.498000 35 103 0 0 0.003271 0 0 NAV3 89795 broad.mit.edu 37 12 78511887 78511887 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:78511887T>A ENST00000397909.2 + 14 3023 c.2850T>A c.(2848-2850)gaT>gaA p.D950E NAV3_ENST00000228327.6_Missense_Mutation_p.D950E|NAV3_ENST00000266692.7_Missense_Mutation_p.D950E|NAV3_ENST00000536525.2_Missense_Mutation_p.D950E Q8IVL0 NAV3_HUMAN neuron navigator 3 950 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 CAGAAGAAGATTTTGACAGCC 0.488000 HNSCC(70;0.22) 65 46 0 0 0.014410 0 0 MYO18B 84700 broad.mit.edu 37 22 26194048 26194048 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:26194048G>A ENST00000335473.7 + 12 2755 c.2505G>A c.(2503-2505)gcG>gcA p.A835A MYO18B_ENST00000536101.1_Silent_p.A835A|MYO18B_ENST00000407587.2_Silent_p.A835A NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 835 Myosin head-like. A -> G (in a lung squamous cell carcinoma sample; somatic mutation). nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 ACCTGGGTGCGGCGGGGGCCT 0.662000 11 12 0 0 0.010729 0 0 SLC35F3 148641 broad.mit.edu 37 1 234445036 234445036 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:234445036C>T ENST00000366618.3 + 4 943 c.798C>T c.(796-798)atC>atT p.I266I SLC35F3_ENST00000366617.3_Silent_p.I197I NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 197 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) TCTCATGGATCGTTCTCAGGG 0.443000 16 37 0 0 0.006122 0 0 POMT1 10585 broad.mit.edu 37 9 134385753 134385753 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:134385753C>T ENST00000423007.1 + 9 1248 c.806C>T c.(805-807)tCt>tTt p.S269F POMT1_ENST00000354713.4_Missense_Mutation_p.S239F|POMT1_ENST00000419118.2_Missense_Mutation_p.S117F|POMT1_ENST00000341012.7_Missense_Mutation_p.S215F|POMT1_ENST00000404875.2_Missense_Mutation_p.S152F|POMT1_ENST00000541219.1_Missense_Mutation_p.S47F|POMT1_ENST00000372228.3_Missense_Mutation_p.S291F|POMT1_ENST00000402686.3_Missense_Mutation_p.S269F NM_001136113.1 NP_001129585.1 Q9Y6A1 POMT1_HUMAN protein-O-mannosyltransferase 1 291 multicellular organismal development|protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 31 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259) GTCTTCCGCTCTGGGCCCCAC 0.542000 18 31 0 0 0.014323 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120921 38120921 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:38120921C>T ENST00000406386.3 + 7 2613 c.2358C>T c.(2356-2358)gcC>gcT p.A786A RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 786 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CCAATAGAGCCACACGAGACA 0.547000 18 31 0 0 0.010504 0 0 TMEM63C 57156 broad.mit.edu 37 14 77705801 77705801 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:77705801G>A ENST00000298351.4 + 11 916 c.772G>A c.(772-774)Gac>Aac p.D258N NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 258 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) CTTCTGCTACGACGTCAGGAA 0.622000 26 39 0 0 0.007291 0 0 PPEF2 5470 broad.mit.edu 37 4 76804350 76804350 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:76804350C>T ENST00000286719.7 - 9 1108 c.752G>A c.(751-753)gGc>gAc p.G251D NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 251 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CTTGGTGAAGCCATATCTAGA 0.328000 12 33 0 0 0.013537 0 0 CDH11 1009 broad.mit.edu 37 16 64981514 64981514 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:64981514C>T ENST00000268603.4 - 13 2998 c.2383G>A c.(2383-2385)Gat>Aat p.D795N CDH11_ENST00000566827.1_Missense_Mutation_p.D669N|CDH11_ENST00000394156.3_3'UTR NM_001797.2 NP_001788.2 P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 795 adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding p.D795Y(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) TGTTAAGAATCGTCATCAAAA 0.363000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 13 51 0 0 0.001855 0 0 KDM7A 80853 broad.mit.edu 37 7 139791650 139791650 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:139791650C>T ENST00000397560.2 - 19 2782 c.2685G>A c.(2683-2685)aaG>aaA p.K895K NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 895 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) ATGCCGGTCTCTTGGTGGGGT 0.483000 11 122 0 0 0.004007 0 0 CRB1 23418 broad.mit.edu 37 1 197404044 197404044 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:197404044C>T ENST00000367397.1 + 5 2052 c.1194C>T c.(1192-1194)agC>agT p.S398S CRB1_ENST00000535699.1_Silent_p.S993S|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367400.3_Silent_p.S1017S|CRB1_ENST00000544212.1_Silent_p.S498S|CRB1_ENST00000367399.2_Silent_p.S905S P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1017 EGF-like 10; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 GTGGCAACAGCTTTTATATGC 0.398000 24 44 0 0 0.003330 0 0 PENK 5179 broad.mit.edu 37 8 57353905 57353905 + Missense_Mutation SNP C C T rs149967411 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:57353905C>T ENST00000314922.3 - 2 806 c.730G>A c.(730-732)Gac>Aac p.D244N PENK_ENST00000451791.2_Missense_Mutation_p.D244N NM_006211.3 NP_006202.1 P01210 PENK_HUMAN proenkephalin 244 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) CCTTCTTCGTCGGAGGGCAGA 0.493000 12 82 0 0 0.010729 0 0 ACSL5 51703 broad.mit.edu 37 10 114177616 114177616 + Missense_Mutation SNP G G A rs34585626 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:114177616G>A ENST00000393081.1 + 14 1538 c.1231G>A c.(1231-1233)Gga>Aga p.G411R RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000433418.1_Missense_Mutation_p.G411R|ACSL5_ENST00000354655.4_Missense_Mutation_p.G411R|ACSL5_ENST00000356116.1_Missense_Mutation_p.G467R|ACSL5_ENST00000369410.3_Missense_Mutation_p.G193R|ACSL5_ENST00000354273.4_Missense_Mutation_p.G411R NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 411 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) CAGCCTGGGCGGAAGGGTTCG 0.493000 15 75 0 0 0.006122 0 0 ANK3 288 broad.mit.edu 37 10 61831953 61831953 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:61831953C>T ENST00000280772.1 - 37 8877 c.8686G>A c.(8686-8688)Gaa>Aaa p.E2896K 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) 2896 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 GACATAAATTCATTCTTTTGA 0.353000 9 36 0 0 0.004482 0 0 ORAI2 80228 broad.mit.edu 37 7 102087224 102087224 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:102087224G>A ENST00000356387.2 + 4 725 c.490G>A c.(490-492)Gag>Aag p.E164K ORAI2_ENST00000478730.1_Missense_Mutation_p.E164K|ORAI2_ENST00000403646.3_Missense_Mutation_p.E164K|ORAI2_ENST00000473939.1_Missense_Mutation_p.E164K|ORAI2_ENST00000488996.1_3'UTR NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3 NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 2 164 integral to membrane protein binding autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 CTTCCTGGCCGAGGTGGTGCT 0.677000 24 106 0 0 0.003330 0 0 LOC154761 154761 broad.mit.edu 37 7 143510010 143510010 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:143510010C>T ENST00000494978.1 - 0 1568 NR_015421.1 CACAAAGCATCACAAAGACTC 0.478000 4 11 0 0 0.009096 0 0 ZNF883 169834 broad.mit.edu 37 9 115760556 115760556 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:115760556C>T ENST00000427548.1 - 0 1257 P0CG24 ZN883_HUMAN zinc finger protein 883 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding TGAACTATGGCTTTACATTTA 0.348000 7 67 0 0 0.001984 0 0 GLB1L2 89944 broad.mit.edu 37 11 134240216 134240216 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:134240216C>T ENST00000535456.2 + 12 1326 c.1138C>T c.(1138-1140)Ctt>Ttt p.L380F GLB1L2_ENST00000389881.3_Missense_Mutation_p.L380F|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.L380F NM_138342.3 NP_612351.2 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 380 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) ACCTGACCTTCTTCCCAAGAT 0.607000 5 85 0 0 0.004482 0 0 SLC22A6 9356 broad.mit.edu 37 11 62752125 62752125 + Missense_Mutation SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:62752125A>C ENST00000377871.3 - 1 304 c.38T>G c.(37-39)gTc>gGc p.V13G SLC22A6_ENST00000360421.4_Missense_Mutation_p.V13G|SLC22A6_ENST00000458333.2_Missense_Mutation_p.V13G|SLC22A6_ENST00000421062.2_Missense_Mutation_p.V13G NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 13 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GAAGCGGCCGACACCCCCCAC 0.637000 7 16 0 0 0.006214 0 0 ZNF417 147687 broad.mit.edu 37 19 58421035 58421035 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:58421035G>A ENST00000312026.5 - 3 775 c.611C>T c.(610-612)cCc>cTc p.P204L ZNF417_ENST00000536263.1_Missense_Mutation_p.P5L|ZNF417_ENST00000595559.1_Missense_Mutation_p.P203L|CTD-2583A14.9_ENST00000602124.1_Intron NM_152475.2 NP_689688.2 Q8TAU3 ZN417_HUMAN zinc finger protein 417 204 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1) 18 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151) CTCCTGAAAGGGTGGGCCATG 0.468000 26 62 0 0 0.014410 0 0 PDE4B 5142 broad.mit.edu 37 1 66384349 66384349 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:66384349G>A ENST00000329654.4 + 3 299 c.112G>A c.(112-114)Gac>Aac p.D38N PDE4B_ENST00000371049.3_Missense_Mutation_p.D38N NM_001037341.1 NP_001032418.1 Q07343 PDE4B_HUMAN phosphodiesterase 4B, cAMP-specific 38 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) ACTTGGGATCGACCTCTGGAG 0.433000 20 43 0 0 0.012319 0 0 RGS7BP 401190 broad.mit.edu 37 5 63890621 63890621 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:63890621C>T ENST00000334025.2 + 4 874 c.548C>T c.(547-549)tCa>tTa p.S183L 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 183 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) GACTCCTCATCATCCCCCGTA 0.498000 13 40 0 0 0.001855 0 0 ANK1 286 broad.mit.edu 37 8 41581147 41581147 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:41581147C>T ENST00000396942.1 - 8 799 c.716G>A c.(715-717)gGc>gAc p.G239D ANK1_ENST00000352337.4_Missense_Mutation_p.G239D|ANK1_ENST00000379758.2_Missense_Mutation_p.G239D|ANK1_ENST00000347528.4_Missense_Mutation_p.G239D|ANK1_ENST00000289734.7_Missense_Mutation_p.G239D|ANK1_ENST00000265709.8_Missense_Mutation_p.G272D|ANK1_ENST00000396945.1_Missense_Mutation_p.G239D P16157 ANK1_HUMAN ankyrin 1, erythrocytic 239 89 kDa domain. 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) TGGCGTGATGCCGTTCTGAAG 0.642000 7 40 0 0 0.001984 0 0 OR51V1 283111 broad.mit.edu 37 11 5221098 5221098 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:5221098G>A ENST00000321255.1 - 1 832 c.833C>T c.(832-834)tCc>tTc p.S278F NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 278 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCCACGGGGGAAAGGTGCTT 0.463000 9 31 0 0 0.008291 0 0 LARGE 9215 broad.mit.edu 37 22 33673202 33673202 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:33673202G>A ENST00000354992.2 - 15 2488 c.1917C>T c.(1915-1917)ttC>ttT p.F639F LARGE_ENST00000402320.1_Silent_p.F587F|LARGE_ENST00000437602.2_Silent_p.F590F|LARGE_ENST00000452586.2_Silent_p.F438F|LARGE_ENST00000397394.2_Silent_p.F639F|LARGE_ENST00000337431.2_Silent_p.F587F NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 639 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity p.F639F(2) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) GCCACTTGGCGAAGTTTGTGG 0.582000 5 19 0 0 0.001168 0 0 ACTC1 70 broad.mit.edu 37 15 35083473 35083473 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:35083473C>T ENST00000290378.4 - 6 1487 c.832G>A c.(832-834)Gaa>Aaa p.E278K RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 278 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) TAAGTTGTTTCATGGATGCCA 0.463000 17 76 0 0 0.010504 0 0 SYT13 57586 broad.mit.edu 37 11 45274136 45274136 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:45274136G>A ENST00000020926.3 - 4 793 c.682C>T c.(682-684)Ccc>Tcc p.P228S NM_001247987.1|NM_020826.2 NP_001234916.1|NP_065877.1 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 228 C2 1. transport vesicle p.P228T(1) breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2) 23 TCCGCCAGGGGGAGCACCAGG 0.682000 OREG0020928 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 68 0 0 0.013537 0 0 TICAM1 148022 broad.mit.edu 37 19 4817408 4817408 + Missense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:4817408C>A ENST00000248244.5 - 2 1211 c.982G>T c.(982-984)Gtc>Ttc p.V328F NM_182919.3 NP_891549.1 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 328 Pro-rich. apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) TGGTCTTTGACAGAGCAGGGG 0.572000 6 68 5.18039e-06 5.62651e-06 0.003080 1 0 ADAMDEC1 27299 broad.mit.edu 37 8 24253266 24253266 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:24253266G>A ENST00000538205.1 + 6 707 c.160G>A c.(160-162)Gaa>Aaa p.E54K RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.E133K|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.E54K|RP11-624C23.1_ENST00000519689.1_RNA NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 133 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.E133K(1) NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) CATCCTAAATGAAAAGAATTC 0.363000 8 30 0 0 0.006214 0 0 FAM135B 51059 broad.mit.edu 37 8 139151271 139151271 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:139151271C>T ENST00000395297.1 - 18 4029 c.3859G>A c.(3859-3861)Gat>Aat p.D1287N NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1287 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) TTGCGCAAATCAGCATTATCC 0.428000 HNSCC(54;0.14) 23 51 0 0 0.002780 0 0 ISL1 3670 broad.mit.edu 37 5 50687127 50687127 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:50687127G>A ENST00000230658.7 + 5 1370 c.785G>A c.(784-786)gGa>gAa p.G262E ISL1_ENST00000511384.1_Intron|ISL1_ENST00000505475.2_3'UTR NM_002202.2 NP_002193.2 P61371 ISL1_HUMAN ISL LIM homeobox 1 262 Gln-rich. generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(810;0.000845)|Breast(144;0.0411) GGGATGACAGGAACTCCCATG 0.517000 8 15 0 0 0.003080 0 0 ACSL5 51703 broad.mit.edu 37 10 114172982 114172982 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:114172982C>T ENST00000393081.1 + 12 1307 c.1000C>T c.(1000-1002)Cgg>Tgg p.R334W RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000433418.1_Missense_Mutation_p.R334W|ACSL5_ENST00000354655.4_Missense_Mutation_p.R334W|ACSL5_ENST00000356116.1_Missense_Mutation_p.R390W|ACSL5_ENST00000369410.3_Missense_Mutation_p.R116W|ACSL5_ENST00000354273.4_Missense_Mutation_p.R334W NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 334 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) AGGGGATATTCGGTTGCTGGC 0.468000 14 69 0 0 0.003163 0 0 OR8I2 120586 broad.mit.edu 37 11 55861551 55861551 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:55861551C>T ENST00000302124.2 + 1 799 c.768C>T c.(766-768)ttC>ttT p.F256F OR8I2_ENST00000560768.1_3'UTR Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) CTCTGATTTTCACCTATTTGC 0.498000 22 73 0 0 0.002780 0 0 KCNQ4 9132 broad.mit.edu 37 1 41283836 41283836 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:41283836G>A ENST00000347132.5 + 3 488 c.405_splice c.e3-1 p.E136_splice KCNQ4_ENST00000509682.2_Splice_Site_p.E136_splice NM_004700.3|NM_172163.2 NP_004691.2|NP_751895.1 P56696 KCNQ4_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 4 136 sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1) 26 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) GGTCCCACAGGAATTCGTGAT 0.632000 17 77 0 0 0.004990 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795419 142795419 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:142795419C>T ENST00000370498.1 - 2 1012 c.259G>A c.(259-261)Gaa>Aaa p.E87K NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 87 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TCTAGGCCTTCGTCCTCCTCC 0.488000 121 79 0 0 0.014410 0 0 MUC16 94025 broad.mit.edu 37 19 9083076 9083076 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9083076G>A ENST00000397910.4 - 1 8942 c.8739C>T c.(8737-8739)tcC>tcT p.S2913S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2914 Ser-rich.|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 TGGTGTTCAGGGACTGTCCAG 0.488000 7 48 0 0 0.003080 0 0 COL6A5 256076 broad.mit.edu 37 3 130159251 130159251 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:130159251G>A ENST00000265379.6 + 35 6563 c.6069G>A c.(6067-6069)atG>atA p.M2023I COL6A5_ENST00000432398.2_Missense_Mutation_p.M2023I A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 2023 Nonhelical region.|VWFA 9. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 GGAGAAAGATGGGTACAGTAA 0.398000 10 38 0 0 0.006214 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155920976 155920976 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:155920976G>A ENST00000368316.1 - 24 2733 c.2263C>T c.(2263-2265)Cgg>Tgg p.R755W ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R755W|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R782W|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R784W|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R783W Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 783 actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) TCCCCATCCCGAGAGTTGGCT 0.657000 5 25 0 0 0.000602 0 0 PLCG2 5336 broad.mit.edu 37 16 81888096 81888096 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:81888096G>A ENST00000359376.3 + 3 455 c.241G>A c.(241-243)Gat>Aat p.D81N PLCG2_ENST00000565400.1_3'UTR NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 81 PH. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 GAACTCCAAAGATTTCGAGCG 0.468000 24 62 0 0 0.003954 0 0 DHX16 8449 broad.mit.edu 37 6 30632922 30632922 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:30632922G>A ENST00000376442.3 - 6 1246 c.1051C>T c.(1051-1053)Ccc>Tcc p.P351S NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 351 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity kidney(2)|ovary(2) 4 TGATACTTGGGCTCCTGAGAG 0.632000 4 20 0 0 0.000602 0 0 ALDH1B1 219 broad.mit.edu 37 9 38395964 38395964 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:38395964G>A ENST00000377698.3 + 2 372 c.219G>A c.(217-219)cgG>cgA p.R73R NM_000692.4 NP_000683.3 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1 family, member B1 73 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) AAGGTGACCGGGCTGATGTGG 0.632000 25 50 0 0 0.003330 0 0 IGHV3-73 28409 broad.mit.edu 37 14 107211187 107211187 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:107211187C>T ENST00000390636.2 - 0 181 TCAGGGACCCCCCAGGCTGGA 0.622000 17 31 0 0 0.007413 0 0 GRAMD4 23151 broad.mit.edu 37 22 47071398 47071398 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:47071398C>T ENST00000406902.1 + 17 1725 c.1512C>T c.(1510-1512)tcC>tcT p.S504S GRAMD4_ENST00000361034.3_Silent_p.S504S|GRAMD4_ENST00000408031.1_Silent_p.S27S Q6IC98 GRAM4_HUMAN GRAM domain containing 4 504 GRAM. apoptosis integral to membrane|mitochondrial membrane breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 12 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) AATCTGGGTCCTCAAAGAGGA 0.562000 14 64 0 0 0.002450 0 0 SYN2 6854 broad.mit.edu 37 3 12208783 12208783 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:12208783C>T ENST00000432424.2 + 0 1202 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 CTCTGCGATGCTGGAGCAGAT 0.522000 55 158 0 0 0.014410 0 0 DGKK 139189 broad.mit.edu 37 X 50119069 50119069 + RNA SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:50119069T>C ENST00000376025.2 - 0 3426 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) GCCACTGTCTTGGCCGTAAAA 0.443000 11 11 0 0 0.010729 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76523672 76523672 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:76523672G>A ENST00000307431.8 + 14 2354 c.1969G>A c.(1969-1971)Gag>Aag p.E657K CNTNAP4_ENST00000476707.1_Missense_Mutation_p.E661K|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.E609K|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.E585K NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 658 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 TGGGTTTTTCGAGTATGTGGC 0.458000 3 9 0 0 0.004672 0 0 SIX2 10736 broad.mit.edu 37 2 45235713 45235713 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:45235713G>A ENST00000303077.6 - 1 856 c.537C>T c.(535-537)gaC>gaT p.D179D NM_016932.4 NP_058628.3 Q9NPC8 SIX2_HUMAN SIX homeobox 2 179 nucleus sequence-specific DNA binding transcription factor activity endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 22 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CGGCCGCCCGGTCGCGCTGCC 0.682000 27 56 0 0 0.009535 0 0 PRKCQ 5588 broad.mit.edu 37 10 6540414 6540414 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:6540414G>A ENST00000263125.5 - 5 585 c.486C>T c.(484-486)ttC>ttT p.F162F PRKCQ_ENST00000539722.1_Silent_p.F37F|PRKCQ_ENST00000397176.2_Silent_p.F162F NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 162 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 AGGTGGCAGTGAACTCGTGGC 0.522000 14 58 0 0 0.004990 0 0 HECTD1 25831 broad.mit.edu 37 14 31642629 31642629 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:31642629G>A ENST00000399332.1 - 6 1377 c.889C>T c.(889-891)Ctt>Ttt p.L297F HECTD1_ENST00000553700.1_Missense_Mutation_p.L297F NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 297 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) GACCTCAGAAGATCCTAGAAA 0.353000 15 21 0 0 0.002450 0 0 MUC16 94025 broad.mit.edu 37 19 9080501 9080501 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9080501C>T ENST00000397910.4 - 2 9733 c.9530G>A c.(9529-9531)gGa>gAa p.G3177E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3178 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.A3175fs*111(1) 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 CGTGGAATTTCCTTGTGCTGC 0.498000 12 109 0 0 0.002450 0 0 HEPN1 641654 broad.mit.edu 37 11 124789832 124789832 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:124789832C>T ENST00000408930.5 + 1 687 c.186C>T c.(184-186)tcC>tcT p.S62S HEPACAM_ENST00000298251.4_3'UTR NM_001037558.2 NP_001032647.2 Q6WQI6 HEPN1_HUMAN hepatocellular carcinoma, down-regulated 1 62 cytoplasm large_intestine(1)|lung(1)|stomach(1) 3 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287) ACTGCCACTCCTATGAACTGT 0.488000 6 33 0 0 0.001984 0 0 OR5B2 390190 broad.mit.edu 37 11 58190485 58190485 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:58190485G>A ENST00000302581.2 - 1 301 c.250C>T c.(250-252)Ctt>Ttt p.L84F NM_001005566.2 NP_001005566.1 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, member 2 84 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) TCTCCTCTAAGGAACCCAGCC 0.493000 33 60 0 0 0.004289 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871280 51871280 + Missense_Mutation SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:51871280A>C ENST00000371497.5 + 2 2170 c.1283A>C c.(1282-1284)aAa>aCa p.K428T TSHZ2_ENST00000329613.6_Missense_Mutation_p.K425T|TSHZ2_ENST00000603338.2_Missense_Mutation_p.K425T NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 428 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) GCAGTGGAGAAAATGCAGTCG 0.502000 35 83 0 0 0.005524 0 0 ZYG11B 79699 broad.mit.edu 37 1 53282222 53282222 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:53282222C>T ENST00000294353.6 + 13 2110 c.1965C>T c.(1963-1965)ttC>ttT p.F655F ZYG11B_ENST00000443756.2_Silent_p.F585F|ZYG11B_ENST00000545132.1_3'UTR NM_024646.2 NP_078922.1 Q9C0D3 ZY11B_HUMAN zyg-11 family member B, cell cycle regulator 655 protein binding breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 30 ATCCATTTTTCCCATTACTTG 0.373000 42 95 0 0 0.014410 0 0 SLC6A5 9152 broad.mit.edu 37 11 20636293 20636293 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:20636293C>T ENST00000525748.1 + 6 1327 c.1054C>T c.(1054-1056)Ccc>Tcc p.P352S NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 352 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) GACCGCTTATCCCAACGTGAC 0.398000 37 77 0 0 0.006230 0 0 APOB 338 broad.mit.edu 37 2 21233505 21233505 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:21233505C>T ENST00000233242.1 - 26 6362 c.6235G>A c.(6235-6237)Gaa>Aaa p.E2079K NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2079 Heparin-binding. 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) TCAAAATATTCTTGCAAGGTC 0.343000 106 342 0 0 0.014410 0 0 TLE2 7089 broad.mit.edu 37 19 3009669 3009669 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:3009669G>A ENST00000262953.6 - 13 1306 c.1044C>T c.(1042-1044)ccC>ccT p.P348P TLE2_ENST00000447365.2_Intron|TLE2_ENST00000591529.1_Silent_p.P362P|TLE2_ENST00000590536.1_Silent_p.P349P|TLE2_ENST00000426948.2_Silent_p.P362P|TLE2_ENST00000443826.3_Silent_p.P226P|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000455444.2_Silent_p.P226P NM_003260.4 NP_003251.2 Q04725 TLE2_HUMAN transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) 348 Pro/Ser-rich. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACGTGGTGAAGGGACTGGACA 0.647000 5 16 0 0 0.001168 0 0 TBX15 6913 broad.mit.edu 37 1 119427478 119427478 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:119427478C>T ENST00000369429.3 - 8 1695 c.1686G>A c.(1684-1686)atG>atA p.M562I TBX15_ENST00000207157.3_Missense_Mutation_p.M456I Q96SF7 TBX15_HUMAN T-box 15 562 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) TGCTGTGCTCCATCCCTGACG 0.557000 12 57 0 0 0.013537 0 0 HORMAD1 84072 broad.mit.edu 37 1 150672652 150672652 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:150672652C>T ENST00000368993.2 - 14 1145 c.1040G>A c.(1039-1041)gGa>gAa p.G347E HORMAD1_ENST00000361824.2_Missense_Mutation_p.G347E|HORMAD1_ENST00000322343.7_Missense_Mutation_p.G340E|HORMAD1_ENST00000368995.4_Missense_Mutation_p.G267E Q86X24 HORM1_HUMAN HORMA domain containing 1 347 blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly chromosome|nucleus breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3) 16 all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) TGGTTGATTTCCATTTGCCTC 0.308000 8 24 0 0 0.006214 0 0 LRP5 4041 broad.mit.edu 37 11 68125224 68125224 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:68125224G>A ENST00000294304.7 + 3 701 c.595G>A c.(595-597)Gga>Aga p.G199R NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 199 Beta-propeller 1. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CTGGCCCAATGGACTGACCAT 0.602000 17 21 0 0 0.004007 0 0 USP39 10713 broad.mit.edu 37 2 85872198 85872198 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:85872198C>T ENST00000323701.6 + 11 1565 c.1555C>T c.(1555-1557)Ctt>Ttt p.L519F USP39_ENST00000409025.1_Missense_Mutation_p.L519F|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Missense_Mutation_p.L416F|USP39_ENST00000409766.3_Intron|USP39_ENST00000409470.1_Missense_Mutation_p.L519F NM_006590.3 NP_006581.2 Q53GS9 SNUT2_HUMAN ubiquitin specific peptidase 39 519 spliceosome assembly|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 19 GATCCACGTGCTTCATCATGT 0.527000 10 30 0 0 0.013537 0 0 C15orf48 84419 broad.mit.edu 37 15 45723275 45723275 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:45723275C>T ENST00000344300.3 + 2 303 c.113C>T c.(112-114)aCc>aTc p.T38I RP11-519G16.5_ENST00000559553.1_RNA|C15orf48_ENST00000396650.2_Missense_Mutation_p.T38I NM_032413.3 NP_115789.1 Q9C002 NMES1_HUMAN chromosome 15 open reading frame 48 38 nucleus large_intestine(1)|lung(2)|ovary(1) 4 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06) CTTTGGAAAACCGATGTGATG 0.403000 33 80 0 0 0.013726 0 0 CDH10 1008 broad.mit.edu 37 5 24505229 24505229 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:24505229G>A ENST00000264463.4 - 8 1892 c.1385C>T c.(1384-1386)gCt>gTt p.A462V NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 462 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) ACTGATTTCAGCAGCAATAAC 0.274000 HNSCC(23;0.051) 11 17 0 0 0.002450 0 0 COL5A2 1290 broad.mit.edu 37 2 189936776 189936776 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:189936776G>A ENST00000374866.3 - 18 1422 c.1148C>T c.(1147-1149)cCt>cTt p.P383L NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 383 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) CTTCATTCCAGGATTTCCTGG 0.333000 10 12 0 0 0.013537 0 0 MAP1A 4130 broad.mit.edu 37 15 43817595 43817595 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:43817595G>A ENST00000382031.1 + 5 4669 c.4638G>A c.(4636-4638)gcG>gcA p.A1546A MAP1A_ENST00000399453.1_Silent_p.A1308A|MAP1A_ENST00000300231.5_Silent_p.A1308A P78559 MAP1A_HUMAN microtubule-associated protein 1A 1308 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) TACCTGGGGCGATCACAAGCC 0.507000 23 48 0 0 0.003954 0 0 PELI2 57161 broad.mit.edu 37 14 56763339 56763339 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:56763339C>T ENST00000267460.4 + 6 1004 c.718C>T c.(718-720)Ctg>Ttg p.L240L NM_021255.2 NP_067078.1 Q9HAT8 PELI2_HUMAN pellino E3 ubiquitin protein ligase family member 2 240 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 22 GACCAACGTCCTGCAGGACGG 0.473000 24 27 0 0 0.003954 0 0 OR8B2 26595 broad.mit.edu 37 11 124252580 124252580 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:124252580G>A ENST00000375013.2 - 1 678 c.660C>T c.(658-660)ttC>ttT p.F220F NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) TAGTGACAATGAAAACATAAG 0.413000 7 81 0 0 0.006214 0 0 OR3A4P 390756 broad.mit.edu 37 17 3214098 3214098 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:3214098C>T ENST00000573491.1 - 0 359 OR3A4P_ENST00000323164.4_RNA CAAACTGTTGCCCTGTCTCCT 0.532000 65 77 0 0 0.014410 0 0 KCTD16 57528 broad.mit.edu 37 5 143586772 143586772 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:143586772C>T ENST00000507359.2 + 2 1586 c.495C>T c.(493-495)ttC>ttT p.F165F KCTD16_ENST00000512467.1_Silent_p.F165F NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 165 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) AGTGGGGTTTCATTACTGTGG 0.537000 9 25 0 0 0.008291 0 0 COL7A1 1294 broad.mit.edu 37 3 48623516 48623516 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:48623516G>A ENST00000328333.8 - 27 3821 c.3714C>T c.(3712-3714)ttC>ttT p.F1238F COL7A1_ENST00000454817.1_Silent_p.F1238F NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1238 Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCTGAGTAGTGAAGGATGCCT 0.557000 53 77 0 0 0.014410 0 0 PAGE4 9506 broad.mit.edu 37 X 49598451 49598451 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:49598451G>A ENST00000218068.6 + 5 374 c.295G>A c.(295-297)Gat>Aat p.D99N PAGE4_ENST00000376141.1_Missense_Mutation_p.D99N NM_007003.2 NP_008934.1 O60829 GAGC1_HUMAN P antigen family, member 4 (prostate associated) 99 Ovarian(276;0.236) TATTTTAGGAGATGGGCAGCC 0.333000 6 3 0 0 0.003080 0 0 PADI4 23569 broad.mit.edu 37 1 17690199 17690199 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:17690199C>T ENST00000375448.4 + 16 1967 c.1941C>T c.(1939-1941)acC>acT p.T647T NM_012387.2 NP_036519.2 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 647 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) ACTGCGGCACCAACGTGCGCA 0.602000 12 22 0 0 0.013537 0 0 TSPAN16 26526 broad.mit.edu 37 19 11408880 11408880 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:11408880G>A ENST00000316737.1 + 2 282 c.132G>A c.(130-132)acG>acA p.T44T TSPAN16_ENST00000592955.1_Silent_p.T44T|TSPAN16_ENST00000590327.1_Silent_p.T44T NM_012466.2 NP_036598.1 Q9UKR8 TSN16_HUMAN tetraspanin 16 44 integral to membrane breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1) 12 CCTCTCTGACGAATGTCCTCG 0.537000 27 48 0 0 0.008361 0 0 SAMD7 344658 broad.mit.edu 37 3 169644770 169644770 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:169644770G>A ENST00000428432.2 + 6 1109 c.720G>A c.(718-720)acG>acA p.T240T SAMD7_ENST00000335556.3_Silent_p.T240T NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 240 p.T240T(1) NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) CAAGTGAAACGAATGAAAAGC 0.493000 10 47 0 0 0.008291 0 0 DLGAP5 9787 broad.mit.edu 37 14 55647984 55647984 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:55647984C>T ENST00000247191.2 - 5 743 c.527G>A c.(526-528)cGa>cAa p.R176Q DLGAP5_ENST00000395425.2_Missense_Mutation_p.R176Q NM_014750.4 NP_055565.3 Q15398 DLGP5_HUMAN discs, large (Drosophila) homolog-associated protein 5 176 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 44 TGGACCAGGTCGGATTGCTCG 0.358000 11 17 0 0 0.001855 0 0 ARID2 196528 broad.mit.edu 37 12 46246002 46246002 + Nonsense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:46246002A>T ENST00000334344.6 + 15 4268 c.4096A>T c.(4096-4098)Aaa>Taa p.K1366* ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.K976*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.K1217* NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1366 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TGATTTTGATAAAGGAGATGG 0.358000 """N, S, F""" hepatocellular carcinoma 11 5 0 0 0.008291 0 0 B3GAT1 27087 broad.mit.edu 37 11 134252840 134252840 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:134252840C>T ENST00000524765.1 - 4 5226 c.682G>A c.(682-684)Gag>Aag p.E228K B3GAT1_ENST00000312527.4_Missense_Mutation_p.E228K|B3GAT1_ENST00000537389.1_Missense_Mutation_p.E241K|B3GAT1_ENST00000392580.1_Missense_Mutation_p.E228K Q9P2W7 B3GA1_HUMAN beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) 228 carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) CGTGGGGCCTCGTACCGCAGG 0.657000 3 5 0 0 0.004672 0 0 TTC31 64427 broad.mit.edu 37 2 74720195 74720195 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:74720195C>T ENST00000442235.2 + 8 724 c.386C>T c.(385-387)tCt>tTt p.S129F TTC31_ENST00000410003.1_3'UTR|TTC31_ENST00000233623.5_Silent_p.L470L Q49AM3 TTC31_HUMAN tetratricopeptide repeat domain 31 475 binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 TGTCTCCACTCTTGCATTATC 0.607000 49 131 0 0 0.014410 0 0 SCN5A 6331 broad.mit.edu 37 3 38640490 38640490 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:38640490G>A ENST00000413689.1 - 13 2135 c.1942C>T c.(1942-1944)Ccg>Tcg p.P648S SCN5A_ENST00000449557.2_Missense_Mutation_p.P648S|SCN5A_ENST00000451551.2_Missense_Mutation_p.P648S|SCN5A_ENST00000425664.1_Missense_Mutation_p.P648S|SCN5A_ENST00000423572.2_Missense_Mutation_p.P648S|SCN5A_ENST00000450102.2_Missense_Mutation_p.P648S|SCN5A_ENST00000455624.2_Missense_Mutation_p.P648S|SCN5A_ENST00000414099.2_Missense_Mutation_p.P648S|SCN5A_ENST00000333535.4_Missense_Mutation_p.P648S|SCN5A_ENST00000443581.1_Missense_Mutation_p.P648S NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 648 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) TCTACACACGGAGCCTGGGAG 0.647000 23 43 0 0 0.012319 0 0 CD163 9332 broad.mit.edu 37 12 7632515 7632515 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:7632515C>T ENST00000359156.4 - 16 3623 c.3421G>A c.(3421-3423)Gaa>Aaa p.E1141K CD163_ENST00000396620.3_Intron|CD163_ENST00000432237.2_Intron|CD163_ENST00000541972.1_Intron NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 1141 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 GCCTCCTTTTCCATTCCAGAA 0.368000 17 16 0 0 0.004990 0 0 MICAL3 57553 broad.mit.edu 37 22 18300929 18300929 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:18300929C>T ENST00000441493.2 - 26 4850 c.4498G>A c.(4498-4500)Gag>Aag p.E1500K NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1500 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) TGAGCAGGCTCCCGGGGGGGC 0.667000 4 12 0 0 0.009096 0 0 PTPRF 5792 broad.mit.edu 37 1 44083233 44083233 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:44083233A>T ENST00000359947.4 + 24 4529 c.4189A>T c.(4189-4191)Atc>Ttc p.I1397F PTPRF_ENST00000372414.3_Missense_Mutation_p.I1397F|PTPRF_ENST00000372413.3_Missense_Mutation_p.I1388F|PTPRF_ENST00000438120.1_Missense_Mutation_p.I1388F|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.I756F NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1397 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CCTTACCTCTATCGATGGTGA 0.552000 49 109 0 0 0.014410 0 0 TNFRSF10D 8793 broad.mit.edu 37 8 23002145 23002145 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:23002145G>A ENST00000312584.3 - 7 866 c.772C>T c.(772-774)Ctt>Ttt p.L258F NM_003840.4 NP_003831.2 Q9UBN6 TR10D_HUMAN tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain 258 anti-apoptosis|apoptosis integral to membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) CGCCGGAAAAGGACCTTGGGA 0.597000 9 33 0 0 0.006214 0 0 XKR7 343702 broad.mit.edu 37 20 30584564 30584564 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:30584564G>A ENST00000217299.3 + 3 1218 c.1044G>A c.(1042-1044)acG>acA p.T348T NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 348 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) AAGGGGAGACGGACTTCTGCA 0.562000 9 15 0 0 0.013537 0 0 CD163L1 283316 broad.mit.edu 37 12 7585176 7585176 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:7585176G>A ENST00000313599.3 - 4 659 c.602C>T c.(601-603)tCt>tTt p.S201F CD163L1_ENST00000396630.1_Missense_Mutation_p.S201F|CD163L1_ENST00000416109.2_Missense_Mutation_p.S211F Q9NR16 C163B_HUMAN CD163 molecule-like 1 201 SRCR 2. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 AGAAATAAAAGAAGATGGACA 0.468000 24 14 0 0 0.002780 0 0 SLC1A1 6505 broad.mit.edu 37 9 4566058 4566058 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:4566058C>T ENST00000262352.3 + 5 688 c.452C>T c.(451-453)cCt>cTt p.P151L NM_004170.5 NP_004161.4 P43005 EAA3_HUMAN solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 151 D-aspartate import|L-glutamate import|synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1) 15 Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457) GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183) L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142) AATATGTTCCCTGAGAATCTT 0.328000 11 69 0 0 0.001855 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711578 155711578 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:155711578G>A ENST00000295101.2 + 3 1736 c.1259G>A c.(1258-1260)aGt>aAt p.S420N NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 420 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) TTGAGGATGAGTTCTACAACT 0.393000 36 58 0 0 0.004878 0 0 RTP2 344892 broad.mit.edu 37 3 187416406 187416406 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:187416406C>T ENST00000358241.1 - 2 986 c.558G>A c.(556-558)ccG>ccA p.P186P NM_001004312.2 NP_001004312.2 Q5QGT7 RTP2_HUMAN receptor (chemosensory) transporter protein 2 186 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding large_intestine(3)|lung(14)|skin(1) 18 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) CCTGGGCCCTCGGCTTGGAGG 0.602000 9 37 0 0 0.004482 0 0 LCT 3938 broad.mit.edu 37 2 136548425 136548425 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:136548425G>A ENST00000264162.2 - 15 5148 c.5138C>T c.(5137-5139)tCg>tTg p.S1713L NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1713 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) GTCTGGCCACGAGCGATCTGC 0.448000 9 54 0 0 0.008291 0 0 ZNF99 7652 broad.mit.edu 37 19 22951144 22951144 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:22951144C>T ENST00000397104.3 - 3 251 c.252G>A c.(250-252)tgG>tgA p.W84* ZNF99_ENST00000596209.1_Nonsense_Mutation_p.W63* 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) TCTTCATATTCCAAGGCTCTT 0.378000 6 13 0 0 0.006214 0 0 DCUN1D3 123879 broad.mit.edu 37 16 20873618 20873618 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:20873618G>A ENST00000324344.3 - 2 528 c.243C>T c.(241-243)tcC>tcT p.S81S DCUN1D3_ENST00000563934.1_Silent_p.S81S|ERI2_ENST00000564349.1_Intron NM_173475.2 NP_775746.1 Q8IWE4 DCNL3_HUMAN DCN1, defective in cullin neddylation 1, domain containing 3 81 negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C perinuclear region of cytoplasm NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2) 14 GBM - Glioblastoma multiforme(48;0.249) CCTCGGCATTGGACTTGGACT 0.562000 40 107 0 0 0.009718 0 0 EXT1 2131 broad.mit.edu 37 8 119122824 119122824 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:119122824A>T ENST00000378204.2 - 1 1268 c.462T>A c.(460-462)ttT>ttA p.F154L NM_000127.2 NP_000118.2 Q16394 EXT1_HUMAN exostosin glycosyltransferase 1 154 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2) 38 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) GACTCAGGACAAAGAGGCACG 0.498000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Langer-Giedion syndrome;Hereditary Multiple Exostoses 46 68 0 0 0.011902 0 0 ZNF551 90233 broad.mit.edu 37 19 58198211 58198211 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:58198211C>T ENST00000282296.5 + 3 753 c.568C>T c.(568-570)Ccc>Tcc p.P190S AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.P174S NM_001270938.1 NP_001257867.1 Q7Z340 ZN551_HUMAN zinc finger protein 551 190 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CTTCCCAGCCCCCACGGACCT 0.502000 11 56 0 0 0.010729 0 0 BDKRB2 624 broad.mit.edu 37 14 96706854 96706854 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:96706854C>T ENST00000542454.2 + 3 3196 c.108C>T c.(106-108)ttC>ttT p.F36F BDKRB2_ENST00000539359.1_Silent_p.F36F|BDKRB2_ENST00000306005.3_Silent_p.F63F|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Silent_p.F63F P30411 BKRB2_HUMAN bradykinin receptor B2 63 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) AGCCCCCCTTCCTCTGGGTGC 0.592000 25 102 0 0 0.003954 0 0 IGLV1-36 28826 broad.mit.edu 37 22 22786696 22786696 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:22786696C>T ENST00000390301.2 + 0 286 CTGACCGATTCTCTGGCTCCA 0.532000 32 71 0 0 0.009535 0 0 PLEC 5339 broad.mit.edu 37 8 144996879 144996879 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:144996879G>A ENST00000322810.4 - 31 7798 c.7629C>T c.(7627-7629)ttC>ttT p.F2543F PLEC_ENST00000398774.2_Silent_p.F2374F|PLEC_ENST00000354589.3_Silent_p.F2406F|PLEC_ENST00000436759.2_Silent_p.F2433F|PLEC_ENST00000356346.3_Silent_p.F2392F|PLEC_ENST00000527096.1_Silent_p.F2429F|PLEC_ENST00000345136.3_Silent_p.F2406F|PLEC_ENST00000357649.2_Silent_p.F2410F|PLEC_ENST00000354958.2_Silent_p.F2384F NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2543 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CCTGCTTCCGGAAGCGCTGGG 0.677000 8 12 0 0 0.003080 0 0 HRG 3273 broad.mit.edu 37 3 186395181 186395181 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:186395181G>A ENST00000232003.4 + 7 1167 c.1087G>A c.(1087-1089)Gga>Aga p.G363R NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 363 His/Pro-rich (HRR). fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) gcatccccatggacaccatcc 0.507000 10 12 0 0 0.006214 0 0 TRPC5 7224 broad.mit.edu 37 X 111090643 111090643 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:111090643C>T ENST00000262839.2 - 6 2317 c.1399G>A c.(1399-1401)Gag>Aag p.E467K NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 467 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 TCCCATTCCTCCCTTGGACGA 0.428000 11 21 0 0 0.001855 0 0 PSMD2 5708 broad.mit.edu 37 3 184019348 184019348 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:184019348C>T ENST00000310118.4 + 4 939 c.381C>T c.(379-381)tcC>tcT p.S127S EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_5'UTR|PSMD2_ENST00000435761.1_5'UTR|PSMD2_ENST00000459910.1_3'UTR NM_002808.3 NP_002799.3 Q13200 PSMD2_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 127 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2) 27 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) ACATCATCTCCGTTTTGGCCA 0.488000 33 56 0 0 0.009535 0 0 RBP3 5949 broad.mit.edu 37 10 48387923 48387923 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:48387923C>T ENST00000224600.4 - 1 3068 c.2955G>A c.(2953-2955)ctG>ctA p.L985L NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 985 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GGTCAGCCCCCAGGATCTCGG 0.617000 12 51 0 0 0.001855 0 0 COL1A2 1278 broad.mit.edu 37 7 94052311 94052311 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:94052311G>A ENST00000297268.6 + 40 2917 c.2446G>A c.(2446-2448)Gaa>Aaa p.E816K NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 816 Missing (in OI2A). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TGCTGGGAAAGAAGGGCTTCG 0.562000 HNSCC(75;0.22) 31 95 0 0 0.009535 0 0 NF1 4763 broad.mit.edu 37 17 29679366 29679366 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:29679366C>T ENST00000358273.4 + 51 7932 c.7549C>T c.(7549-7551)Cga>Tga p.R2517* NF1_ENST00000356175.3_Nonsense_Mutation_p.R2496*|NF1_ENST00000444181.2_Nonsense_Mutation_p.R310*|NF1_ENST00000417592.2_Intron NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2517 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.?(3)|p.R2517*(1) 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) GACCAGTCCCCGAGCCAGGAA 0.468000 """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) 15 14 0 0 0.003163 0 0 KCNQ3 3786 broad.mit.edu 37 8 133144457 133144457 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:133144457C>T ENST00000388996.4 - 14 2274 c.1854G>A c.(1852-1854)atG>atA p.M618I KCNQ3_ENST00000521134.1_Missense_Mutation_p.M498I|KCNQ3_ENST00000519445.1_Missense_Mutation_p.M606I NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 618 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) ACTTCCCCATCATGCTTTGGT 0.348000 4 24 0 0 0.009096 0 0 TEKT4 150483 broad.mit.edu 37 2 95541342 95541342 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:95541342G>A ENST00000295201.4 + 5 1083 c.946G>A c.(946-948)Gaa>Aaa p.E316K AC097374.2_ENST00000568768.1_RNA NM_144705.2 NP_653306.1 Q8WW24 TEKT4_HUMAN tektin 4 316 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 28 GACACTGCGGGAAATCACAGA 0.607000 18 22 0 0 0.007413 0 0 OR4K17 390436 broad.mit.edu 37 14 20586527 20586527 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:20586527G>A ENST00000315543.4 + 1 962 c.962G>A c.(961-963)aGa>aAa p.R321K NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) TATACTCTGAGAAACAAAGAA 0.363000 4 30 0 0 0.009096 0 0 SAMD9 54809 broad.mit.edu 37 7 92732986 92732986 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:92732986G>A ENST00000379958.2 - 3 2694 c.2425C>T c.(2425-2427)Ctt>Ttt p.L809F NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 809 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) TACTGCAGAAGATAGACATTA 0.363000 18 53 0 0 0.007413 0 0 ZNF501 115560 broad.mit.edu 37 3 44776090 44776090 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:44776090C>T ENST00000396048.2 + 3 614 c.177C>T c.(175-177)ttC>ttT p.F59F NM_001258280.1|NM_145044.3 NP_001245209.1|NP_659481.2 Q96CX3 ZN501_HUMAN zinc finger protein 501 59 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579) GAAGTTGTTTCCGTAAACAGT 0.398000 6 41 0 0 0.001168 0 0 GRIA4 2893 broad.mit.edu 37 11 105795202 105795202 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:105795202G>A ENST00000393127.2 + 12 2000 c.1554G>A c.(1552-1554)atG>atA p.M518I GRIA4_ENST00000530497.1_Missense_Mutation_p.M518I|GRIA4_ENST00000525187.1_Missense_Mutation_p.M518I|GRIA4_ENST00000282499.5_Missense_Mutation_p.M518I NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 518 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) AGCCCTTCATGAGTTTGGGCA 0.418000 35 58 0 0 0.003271 0 0 TIGIT 201633 broad.mit.edu 37 3 114014666 114014666 + Silent SNP C C G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:114014666C>G ENST00000481065.1 + 3 3152 c.537C>G c.(535-537)acC>acG p.T179T TIGIT_ENST00000486257.1_Silent_p.T112T|TIGIT_ENST00000383671.3_Silent_p.T112T Q495A1 TIGIT_HUMAN T cell immunoreceptor with Ig and ITIM domains 112 negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production cell surface|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1) 17 TCTATCACACCTACCCTGATG 0.562000 11 40 0 0 0.013537 0 0 ATP13A5 344905 broad.mit.edu 37 3 192994600 192994600 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:192994600G>A ENST00000342358.4 - 29 3452 c.3335C>T c.(3334-3336)tCg>tTg p.S1112L ATP13A5_ENST00000495496.1_5'UTR NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 1112 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) AACCCTCCACGATGTTATGGT 0.313000 13 20 0 0 0.003163 0 0 BIRC6 57448 broad.mit.edu 37 2 32726811 32726811 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:32726811A>T ENST00000421745.2 + 47 9197 c.9063A>T c.(9061-9063)gaA>gaT p.E3021D NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 3021 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding p.E2993D(1)|p.E3021D(1) NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) CTAAACATGAAAACTTTCATG 0.398000 11 54 0 0 0.013537 0 0 EPRS 2058 broad.mit.edu 37 1 220191809 220191809 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:220191809G>A ENST00000366923.3 - 12 1745 c.1476C>T c.(1474-1476)atC>atT p.I492I NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 492 Glutamyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TAAACGCCCAGATTTTGTCCC 0.378000 14 47 0 0 0.003163 0 0 PDZD8 118987 broad.mit.edu 37 10 119044546 119044546 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:119044546G>A ENST00000334464.5 - 5 1937 c.1698C>T c.(1696-1698)ccC>ccT p.P566P PDZD8_ENST00000482496.1_5'UTR NM_173791.3 NP_776152.1 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 566 Pro-rich. intracellular signal transduction metal ion binding kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) AAGTTTTTAGGGGTGGAGGTT 0.453000 23 52 0 0 0.003954 0 0 LRRTM3 347731 broad.mit.edu 37 10 68688078 68688078 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:68688078C>T ENST00000361320.4 + 2 1982 c.1404C>T c.(1402-1404)tcC>tcT p.S468S CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 468 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 AAAGACAGTCCCTAAAGCAAA 0.522000 9 30 0 0 0.006214 0 0 TBC1D3B 414059 broad.mit.edu 37 17 34499226 34499226 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:34499226C>T ENST00000454519.3 - 7 634 c.485G>A c.(484-486)cGa>cAa p.R162Q CTB-91J4.1_ENST00000592460.1_RNA|TBC1D3B_ENST00000398801.3_Missense_Mutation_p.R162Q NM_001001417.5 NP_001001417.5 A6NDS4 TBC3B_HUMAN TBC1 domain family, member 3B 162 Rab-GAP TBC. intracellular Rab GTPase activator activity endometrium(2)|lung(3)|pancreas(1) 6 Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GGTTCCGTATCGATCCCTGAA 0.567000 118 400 0 0 0.014410 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65810436 65810436 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:65810436G>A ENST00000312006.4 - 3 1119 c.838C>T c.(838-840)Ccc>Tcc p.P280S GAL3ST3_ENST00000527878.1_Missense_Mutation_p.P280S NM_033036.2 NP_149025.1 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 280 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity kidney(1)|lung(9)|ovary(2)|skin(2) 14 agcgccgcggggATGGCGGCC 0.751000 4 8 0 0 0.009096 0 0 RASGRF2 5924 broad.mit.edu 37 5 80382676 80382676 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:80382676G>A ENST00000265080.4 + 9 1361 c.1294G>A c.(1294-1296)Gac>Aac p.D432N RASGRF2_ENST00000502677.1_3'UTR NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 432 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TGAAGTCAGCGACACTGAAAA 0.468000 5 23 0 0 0.000602 0 0 LRRC8D 55144 broad.mit.edu 37 1 90399360 90399360 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:90399360G>A ENST00000337338.5 + 3 1140 c.733G>A c.(733-735)Ggg>Agg p.G245R LRRC8D_ENST00000394593.3_Missense_Mutation_p.G245R NM_001134479.1 NP_001127951.1 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member D 245 integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1) 29 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) CAGTGATGAAGGGAGCCCCAG 0.458000 17 34 0 0 0.007413 0 0 TIMD4 91937 broad.mit.edu 37 5 156375506 156375506 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:156375506G>A ENST00000274532.2 - 5 821 c.765C>T c.(763-765)tcC>tcT p.S255S TIMD4_ENST00000407087.3_Intron NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 255 Ser-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCCAAACTTTGGACTCTTTGG 0.433000 29 91 0 0 0.008361 0 0 RGS7 6000 broad.mit.edu 37 1 241519024 241519024 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:241519024G>A ENST00000366565.1 - 2 434 c.53C>T c.(52-54)tCa>tTa p.S18L RGS7_ENST00000366562.4_Missense_Mutation_p.S18L|RGS7_ENST00000348120.2_Missense_Mutation_p.S18L|RGS7_ENST00000366564.1_Missense_Mutation_p.S18L|RGS7_ENST00000407727.1_Missense_Mutation_p.S18L|RGS7_ENST00000401882.1_Missense_Mutation_p.S18L|RGS7_ENST00000366563.1_Missense_Mutation_p.S18L NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 18 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) CATGTTGGGTGATTCATCGGC 0.468000 32 55 0 0 0.013726 0 0 TTN 7273 broad.mit.edu 37 2 179542471 179542471 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179542471C>T ENST00000589042.1 - 146 34392 c.34168G>A c.(34168-34170)Gaa>Aaa p.E11390K TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E10146K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E11073K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11073 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) GGTGGAATTTCCTCTTCTTCA 0.433000 21 105 0 0 0.004656 0 0 LAMA3 3909 broad.mit.edu 37 18 21483903 21483903 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:21483903G>A ENST00000313654.9 + 50 6566 c.6325G>A c.(6325-6327)Gaa>Aaa p.E2109K LAMA3_ENST00000399516.3_Missense_Mutation_p.E2053K|LAMA3_ENST00000269217.6_Missense_Mutation_p.E500K|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.E444K NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2109 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATAGGAATATGAAAAATTAGC 0.363000 7 43 0 0 0.003080 0 0 ZMYND12 84217 broad.mit.edu 37 1 42905641 42905641 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:42905641G>A ENST00000372565.3 - 4 749 c.480C>T c.(478-480)gtC>gtT p.V160V ZMYND12_ENST00000433602.2_Silent_p.V50V NM_032257.4 NP_115633.3 Q9H0C1 ZMY12_HUMAN zinc finger, MYND-type containing 12 160 intracellular zinc ion binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2) 17 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TTGATTTGAGGACTGTCCACT 0.443000 21 112 0 0 0.003330 0 0 RYR2 6262 broad.mit.edu 37 1 237843767 237843767 + Silent SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:237843767T>A ENST00000366574.2 + 62 9224 c.8907T>A c.(8905-8907)ccT>ccA p.P2969P RYR2_ENST00000542537.1_Silent_p.P2953P|RYR2_ENST00000360064.6_Silent_p.P2967P NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2969 Modulator (Potential). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCGTTCTTCCTTTAATTGATC 0.423000 12 18 0 0 0.013537 0 0 QRICH2 84074 broad.mit.edu 37 17 74287112 74287112 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:74287112G>A ENST00000262765.5 - 4 3377 c.3198C>T c.(3196-3198)ttC>ttT p.F1066F NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 1066 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 GTGCCAGCAGGAACTGGATCT 0.532000 67 24 0 0 0.014410 0 0 DTWD1 56986 broad.mit.edu 37 15 49924493 49924493 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:49924493C>T ENST00000251250.6 + 4 609 c.402C>T c.(400-402)gaC>gaT p.D134D DTWD1_ENST00000403028.3_Silent_p.D134D|DTWD1_ENST00000558653.1_Silent_p.D134D|DTWD1_ENST00000415425.1_Silent_p.D47D|DTWD1_ENST00000559223.1_3'UTR NM_020234.5 NP_064619.2 Q8N5C7 DTWD1_HUMAN DTW domain containing 1 134 endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all_lung(180;0.0384) all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05) AAGAAAAGGACCATGAAGTAG 0.318000 9 48 0 0 0.013537 0 0 TTN 7273 broad.mit.edu 37 2 179638756 179638756 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179638756G>A ENST00000589042.1 - 31 7363 c.7139C>T c.(7138-7140)tCc>tTc p.S2380F TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S2334F|TTN_ENST00000360870.5_Missense_Mutation_p.S2380F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S2334F|TTN_ENST00000342992.6_Missense_Mutation_p.S2380F|TTN_ENST00000342175.6_Missense_Mutation_p.S2334F|TTN_ENST00000591111.1_Missense_Mutation_p.S2380F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2103 Ig-like 13. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.S2334F(2)|p.S2380F(2) 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) ACTTTCCAAGGAGACTTTAAC 0.473000 45 62 0 0 0.010771 0 0 PAPL 390928 broad.mit.edu 37 19 39591400 39591400 + Missense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:39591400C>A ENST00000331256.5 + 7 988 c.714C>A c.(712-714)caC>caA p.H238Q PAPL_ENST00000594229.1_Missense_Mutation_p.T197K NM_001004318.2 NP_001004318.2 Q6ZNF0 PAPL_HUMAN 238 extracellular region acid phosphatase activity|metal ion binding GTCCCGCCCACATCATCTCCT 0.607000 14 35 3.27435e-08 3.57051e-08 0.002450 1 0 SIRPA 140885 broad.mit.edu 37 20 1902297 1902297 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:1902297C>T ENST00000358771.4 + 3 845 c.693C>T c.(691-693)gcC>gcT p.A231A SIRPA_ENST00000356025.3_Silent_p.A231A|SIRPA_ENST00000400068.3_Silent_p.A231A NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 231 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) GCGAGGTGGCCCACGTCACCT 0.617000 4 48 0 0 0.003080 0 0 LEPREL1 55214 broad.mit.edu 37 3 189700921 189700921 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:189700921G>A ENST00000319332.5 - 8 1435 c.1238C>T c.(1237-1239)tCa>tTa p.S413L LEPREL1_ENST00000427335.2_Missense_Mutation_p.S232L NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 413 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus 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 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) GTTCACTCCTGAAGGGACCCT 0.408000 26 71 0 0 0.007291 0 0 ARPP21 10777 broad.mit.edu 37 3 35750488 35750488 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:35750488G>A ENST00000187397.4 + 11 1279 c.823G>A c.(823-825)Gac>Aac p.D275N ARPP21_ENST00000458225.1_Intron|ARPP21_ENST00000337271.5_Intron|ARPP21_ENST00000417925.1_Intron|ARPP21_ENST00000444190.1_Intron NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 275 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 ATTTAGAGATGACAGACGAAG 0.383000 4 14 0 0 0.000602 0 0 GRIN2A 2903 broad.mit.edu 37 16 10273906 10273906 + Silent SNP G G A rs145961628 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:10273906G>A ENST00000396573.2 - 3 672 c.363C>T c.(361-363)ttC>ttT p.F121F GRIN2A_ENST00000330684.3_Silent_p.F121F|GRIN2A_ENST00000562109.1_Silent_p.F121F|GRIN2A_ENST00000396575.2_Silent_p.F121F|GRIN2A_ENST00000404927.2_Silent_p.F121F NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 121 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.F121L(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AGATGGGGACGAAGGTGTGGG 0.602000 19 36 0 0 0.012319 0 0 NPR1 4881 broad.mit.edu 37 1 153661483 153661483 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:153661483G>A ENST00000368680.3 + 16 2944 c.2472G>A c.(2470-2472)gcG>gcA p.A824A NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 824 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity p.A824A(1) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) AGCAGTACGCGAACAATCTGG 0.622000 48 87 0 0 0.014410 0 0 EED 8726 broad.mit.edu 37 11 85963196 85963196 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:85963196C>T ENST00000263360.6 + 3 960 c.274C>T c.(274-276)Cat>Tat p.H92Y EED_ENST00000327320.4_Missense_Mutation_p.H92Y|EED_ENST00000528180.1_Missense_Mutation_p.H92Y|EED_ENST00000351625.6_Missense_Mutation_p.H92Y NM_003797.3 NP_003788.2 O75530 EED_HUMAN embryonic ectoderm development 92 Interaction with EZH2 (By similarity). negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|identical protein binding haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 21 Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092) ATAGGAAGATCATAACCAACC 0.343000 6 24 0 0 0.001984 0 0 LRRC7 57554 broad.mit.edu 37 1 70478773 70478773 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:70478773G>A ENST00000310961.5 + 14 1569 c.e14+1 LRRC7_ENST00000035383.5_Splice_Site|LRRC7_ENST00000415775.2_Splice_Site Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 GTGACAACAGGTATTTTTGCA 0.328000 43 70 0 0 0.009718 0 0 CORO1A 11151 broad.mit.edu 37 16 30199684 30199684 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:30199684G>A ENST00000219150.5 + 10 1373 c.1068G>A c.(1066-1068)tcG>tcA p.S356S CORO1A_ENST00000570045.1_Silent_p.S356S|CORO1A_ENST00000565497.1_Intron NM_001193333.2|NM_007074.3 NP_001180262.1|NP_009005.1 P31146 COR1A_HUMAN coronin, actin binding protein, 1A 356 cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 9 GCCCACAGTCGGACCTGTTCC 0.677000 19 73 0 0 0.007413 0 0 HOXB13 10481 broad.mit.edu 37 17 46804308 46804308 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:46804308C>T ENST00000290295.7 - 2 1283 c.699G>A c.(697-699)cgG>cgA p.R233R NM_006361.5 NP_006352.2 Q92826 HXB13_HUMAN homeobox B13 233 angiogenesis|epidermis development|response to wounding sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|lung(6)|prostate(1) 11 CCGCATACTCCCGCTCCAGCT 0.612000 47 25 0 0 0.014410 0 0 PPM1E 22843 broad.mit.edu 37 17 57058257 57058257 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:57058257G>A ENST00000308249.2 + 7 2262 c.2133G>A c.(2131-2133)ggG>ggA p.G711G NM_014906.4 NP_055721.3 Q8WY54 PPM1E_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1E 720 protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) CTGGAAGTGGGAAGAGAAATA 0.418000 39 14 0 0 0.006230 0 0 C6orf165 154313 broad.mit.edu 37 6 88144730 88144730 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:88144730G>A ENST00000507897.1 + 11 1536 c.1453G>A c.(1453-1455)Gaa>Aaa p.E485K C6ORF165_ENST00000369562.4_Missense_Mutation_p.E485K Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 485 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) TCAACTATTGGAACTTCATCA 0.269000 19 36 0 0 0.007413 0 0 KXD1 79036 broad.mit.edu 37 19 18672911 18672911 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:18672911C>T ENST00000602094.1 + 2 1505 c.45C>T c.(43-45)atC>atT p.I15I KXD1_ENST00000595073.1_Silent_p.I15I|KXD1_ENST00000601630.1_Silent_p.I15I|KXD1_ENST00000222307.4_Silent_p.I15I|KXD1_ENST00000599000.1_Silent_p.I15I|KXD1_ENST00000540691.1_Silent_p.I15I|KXD1_ENST00000598830.1_Silent_p.I15I|KXD1_ENST00000599319.1_Silent_p.I15I|KXD1_ENST00000539106.1_Silent_p.I15I Q9BQD3 CS050_HUMAN KxDL motif containing 1 15 protein binding GCGGCCGCATCCTGAGCATGG 0.587000 9 17 0 0 0.013537 0 0 HSD17B7 51478 broad.mit.edu 37 1 162767626 162767626 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:162767626C>T ENST00000367917.3 + 4 435 c.367C>T c.(367-369)Ctg>Ttg p.L123L HSD17B7_ENST00000254521.3_Silent_p.L123L|HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367913.1_3'UTR P56937 DHB7_HUMAN hydroxysteroid (17-beta) dehydrogenase 7 123 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_hematologic(112;0.115) NADH(DB00157) AGCTGAAGGCCTGCTGACCCA 0.413000 7 23 0 0 0.010729 0 0 OR2T34 127068 broad.mit.edu 37 1 248737590 248737590 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:248737590C>T ENST00000328782.2 - 1 490 c.469G>A c.(469-471)Gga>Aga p.G157R NM_001001821.1 NP_001001821.1 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, member 34 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 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) TCAACCATTCCCAAAACCCAG 0.522000 10 26 0 0 0.006122 0 0 KDM4D 55693 broad.mit.edu 37 11 94731240 94731240 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:94731240C>T ENST00000335080.5 + 3 1536 c.704C>T c.(703-705)tCc>tTc p.S235F KDM4D_ENST00000536741.1_Missense_Mutation_p.S235F NM_018039.2 NP_060509.2 Q6B0I6 KDM4D_HUMAN lysine (K)-specific demethylase 4D 235 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 CCAGGCAGTTCCCGGGGTTGT 0.592000 10 42 0 0 0.010729 0 0 OR56B1 387748 broad.mit.edu 37 11 5758396 5758396 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:5758396G>A ENST00000317121.3 + 1 716 c.650G>A c.(649-651)gGg>gAg p.G217E TRIM5_ENST00000380027.1_Intron NM_001005180.2 NP_001005180.1 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, member 1 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) CTTGGAATGGGGAGTGATCTA 0.478000 7 29 0 0 0.001984 0 0 PLCL2 23228 broad.mit.edu 37 3 17052024 17052024 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:17052024G>A ENST00000418129.2 + 2 1273 c.808G>A c.(808-810)Gaa>Aaa p.E270K PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000432376.1_Missense_Mutation_p.E270K|PLCL2_ENST00000396755.2_Missense_Mutation_p.E270K NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 396 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 AGAGGGTCAGGAAAAGGGCTG 0.403000 16 47 0 0 0.003163 0 0 MYLK4 340156 broad.mit.edu 37 6 2683362 2683362 + Missense_Mutation SNP C C T rs147055313 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:2683362C>T ENST00000274643.7 - 7 922 c.580G>A c.(580-582)Gat>Aat p.D194N MYLK4_ENST00000268446.5_Missense_Mutation_p.D194N NM_001012418.3 NP_001012418.2 Q86YV6 MYLK4_HUMAN myosin light chain kinase family, member 4 194 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Ovarian(93;0.0412) all_hematologic(90;0.0897) TAGCTCTCATCGATGATGCGG 0.488000 19 34 0 0 0.008871 0 0 COL11A2 1302 broad.mit.edu 37 6 33132116 33132116 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:33132116G>A ENST00000341947.2 - 65 5225 c.4998C>T c.(4996-4998)ctC>ctT p.L1666L COL11A2_ENST00000374708.4_Silent_p.L1580L|COL11A2_ENST00000374714.1_Silent_p.L1640L|COL11A2_ENST00000374712.1_Silent_p.L1585L|COL11A2_ENST00000395197.1_Silent_p.L1606L|COL11A2_ENST00000374713.1_Silent_p.L1619L|COL11A2_ENST00000357486.1_Silent_p.L1645L|COL11A2_ENST00000361917.1_Silent_p.L1559L|COL11A2_ENST00000477772.1_5'UTR NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1666 Fibrillar collagen NC1. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 TGGCCCCACGGAGTCTCAGGG 0.627000 13 20 0 0 0.002450 0 0 HEPH 9843 broad.mit.edu 37 X 65390523 65390523 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:65390523G>A ENST00000519389.1 + 2 452 c.273G>A c.(271-273)tgG>tgA p.W91* HEPH_ENST00000343002.2_Nonsense_Mutation_p.W37*|HEPH_ENST00000419594.1_Nonsense_Mutation_p.W40*|HEPH_ENST00000441993.2_Nonsense_Mutation_p.W40*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.W40*|HEPH_ENST00000336279.5_Intron Q9BQS7 HEPH_HUMAN hephaestin 37 Plastocyanin-like 1. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 ATGTGCAGTGGAACTATGCTC 0.522000 11 6 0 0 0.008291 0 0 OR52N4 390072 broad.mit.edu 37 11 5776645 5776645 + Silent SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:5776645G>T ENST00000317254.3 + 1 723 c.675G>T c.(673-675)cgG>cgT p.R225R TRIM5_ENST00000380027.1_Intron NM_001005175.2 NP_001005175.3 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene) 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) TGATTCTCCGGGCAGTGGTCA 0.488000 22 58 4.16121e-05 4.51223e-05 0.002780 1 0 FKBP9L 360132 broad.mit.edu 37 7 55752937 55752937 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:55752937C>T ENST00000455909.1 - 0 626 NR_027340.1|NR_027342.1 FK506 binding protein 9-like endometrium(1)|kidney(1)|lung(3) 5 CCTCACCATTCCATATGAACA 0.522000 4 22 0 0 0.000602 0 0 USP7 7874 broad.mit.edu 37 16 8990881 8990881 + Missense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:8990881C>A ENST00000344836.4 - 26 2992 c.2794G>T c.(2794-2796)Ggg>Tgg p.G932W USP7_ENST00000535863.1_Missense_Mutation_p.G833W|USP7_ENST00000381886.4_Missense_Mutation_p.G916W NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 932 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 GCTTTCTCCCCAAGCTCCACG 0.448000 26 145 3.73148e-12 4.08601e-12 0.007291 1 0 TBPL2 387332 broad.mit.edu 37 14 55907200 55907200 + Missense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:55907200G>T ENST00000247219.5 - 1 134 c.64C>A c.(64-66)Ccg>Acg p.P22T NM_199047.2 NP_950248.1 Q6SJ96 TBPL2_HUMAN TATA box binding protein like 2 22 Poly-Pro. multicellular organismal development|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 8 GGTGGGGGCGGGTAAGAGGGT 0.697000 20 40 3.5997e-14 3.94459e-14 0.014323 1 0 MYH2 4620 broad.mit.edu 37 17 10440619 10440619 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:10440619C>T ENST00000245503.5 - 16 2212 c.1828G>A c.(1828-1830)Gga>Aga p.G610R CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.G610R|MYH2_ENST00000532183.1_Missense_Mutation_p.G610R NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 610 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TGGTACAGTCCAACCACGGTC 0.483000 55 59 0 0 0.014410 0 0 MAGEA1 4100 broad.mit.edu 37 X 152482399 152482399 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:152482399C>T ENST00000356661.5 - 3 830 c.612G>A c.(610-612)atG>atA p.M204I NM_004988.4 NP_004979.3 P43355 MAGA1_HUMAN melanoma antigen family A, 1 (directs expression of antigen MZ2-E) 204 MAGE. cytoplasm|plasma membrane breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGCCGCCCTCCATTGCAATCA 0.547000 34 17 0 0 0.004878 0 0 XIRP2 129446 broad.mit.edu 37 2 168103356 168103356 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:168103356G>A ENST00000409195.1 + 9 5543 c.5454G>A c.(5452-5454)aaG>aaA p.K1818K XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.K1596K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.K1818K NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1643 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 ACACAGTTAAGGTTTTTATGA 0.408000 10 63 0 0 0.008291 0 0 NAALADL2 254827 broad.mit.edu 37 3 175165038 175165038 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:175165038G>A ENST00000454872.1 + 6 1240 c.1112G>A c.(1111-1113)cGa>cAa p.R371Q NAALADL2_ENST00000473253.1_3'UTR NM_207015.2 NP_996898.2 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 2 371 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) AGACAAAGCCGATCAAACCTC 0.378000 6 9 0 0 0.001168 0 0 CFAP54 144535 broad.mit.edu 37 12 97073515 97073515 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:97073515C>T ENST00000524981.3 + 7 1054 c.1054C>T c.(1054-1056)Ctt>Ttt p.L352F Q6ZTY8 CL063_HUMAN 326 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 TTCATTATTTCTTGCACAGAC 0.428000 60 36 0 0 0.014410 0 0 EPHA8 2046 broad.mit.edu 37 1 22902951 22902951 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:22902951G>A ENST00000166244.3 + 3 473 c.401G>A c.(400-402)gGg>gAg p.G134E EPHA8_ENST00000374644.4_Missense_Mutation_p.G134E|EPHA8_ENST00000538803.1_Missense_Mutation_p.G134E NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 134 integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CGCGACCTGGGGGCCAGCACA 0.587000 20 42 0 0 0.008871 0 0 GABBR2 9568 broad.mit.edu 37 9 101056138 101056138 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:101056138C>T ENST00000259455.2 - 18 3048 c.2589G>A c.(2587-2589)caG>caA p.Q863Q NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 863 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) TCCACTGTAGCTGGGGATTTT 0.373000 35 53 0 0 0.004289 0 0 MIER2 54531 broad.mit.edu 37 19 307485 307485 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:307485G>A ENST00000264819.4 - 13 1260 c.1250C>T c.(1249-1251)gCc>gTc p.A417V NM_017550.1 NP_060020.1 Q8N344 MIER2_HUMAN mesoderm induction early response 1, family member 2 417 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCATCAGAGGCCACTCCGGG 0.672000 5 11 0 0 0.000602 0 0 ARIH2 10425 broad.mit.edu 37 3 49011154 49011154 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:49011154C>T ENST00000356401.4 + 9 1132 c.793C>T c.(793-795)Cac>Tac p.H265Y ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Missense_Mutation_p.H265Y NM_006321.2 NP_006312.1 O95376 ARI2_HUMAN ariadne RBR E3 ubiquitin protein ligase 2 265 developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) TCAGATGTATCACGCACCCAC 0.408000 11 36 0 0 0.010729 0 0 STARD4 134429 broad.mit.edu 37 5 110835597 110835597 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:110835597C>T ENST00000296632.3 - 6 739 c.605G>A c.(604-606)cGa>cAa p.R202Q STARD4_ENST00000512160.1_3'UTR NM_139164.1 NP_631903.1 Q96DR4 STAR4_HUMAN StAR-related lipid transfer (START) domain containing 4 202 START. lipid transport lipid binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 12 all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248) OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138) TAAAGCTTTTCGTAAATCACC 0.403000 8 31 0 0 0.003080 0 0 TGM5 9333 broad.mit.edu 37 15 43552275 43552275 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:43552275G>A ENST00000220420.5 - 3 418 c.411C>T c.(409-411)atC>atT p.I137I TGM5_ENST00000349114.4_Intron NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 137 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) TGAAAAGCAGGATGAACTCCC 0.602000 11 46 0 0 0.008291 0 0 MC2R 4158 broad.mit.edu 37 18 13884916 13884916 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:13884916C>T ENST00000327606.3 - 2 782 c.602G>A c.(601-603)cGa>cAa p.R201Q NM_000529.2 NP_000520.1 Q01718 ACTHR_HUMAN melanocortin 2 receptor (adrenocorticotropic hormone) 201 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Corticotropin(DB01285)|Cosyntropin(DB01284) GGTGTGGGATCGAGCCAGCAG 0.577000 20 27 0 0 0.010504 0 0 PRAMEF17 391004 broad.mit.edu 37 1 13716932 13716932 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:13716932G>A ENST00000376098.4 + 2 445 c.419G>A c.(418-420)aGg>aAg p.R140K NM_001099851.1 NP_001093321.1 Q5VTA0 PRA17_HUMAN PRAME family member 17 140 kidney(1)|lung(2) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GACTATCCAAGGACGGGAGAG 0.537000 40 161 0 0 0.014410 0 0 FOXJ2 55810 broad.mit.edu 37 12 8196551 8196551 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:8196551C>T ENST00000162391.3 + 5 1627 c.482C>T c.(481-483)tCc>tTc p.S161F FOXJ2_ENST00000428177.2_Missense_Mutation_p.S161F NM_018416.2 NP_060886.1 Q9P0K8 FOXJ2_HUMAN forkhead box J2 161 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) CCTCAGCTGTCCCAAGACTCA 0.542000 44 15 0 0 0.011902 0 0 ZNF622 90441 broad.mit.edu 37 5 16453243 16453243 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:16453243G>A ENST00000308683.2 - 5 1311 c.1185C>T c.(1183-1185)tcC>tcT p.S395S NM_033414.2 NP_219482.1 Q969S3 ZN622_HUMAN zinc finger protein 622 395 cytoplasm|nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 ATCTCATCAAGGAGCGATGAC 0.478000 12 48 0 0 0.010729 0 0 NUP205 23165 broad.mit.edu 37 7 135279449 135279449 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:135279449C>T ENST00000285968.6 + 13 2011 c.1985C>T c.(1984-1986)tCc>tTc p.S662F NUP205_ENST00000440390.2_Intron NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 662 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 ATTGCTGCTTCCCTCTGGCAG 0.448000 13 32 0 0 0.004007 0 0 SIK3 23387 broad.mit.edu 37 11 116732000 116732000 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:116732000G>A ENST00000375300.1 - 18 2276 c.2271C>T c.(2269-2271)atC>atT p.I757I SIK3_ENST00000542607.1_Silent_p.I699I|SIK3_ENST00000488337.1_Intron|SIK3_ENST00000292055.4_Silent_p.I699I|SIK3_ENST00000434315.2_Silent_p.I598I|SIK3_ENST00000446921.2_Silent_p.I757I|SIK3_ENST00000375288.1_Intron Q9Y2K2 SIK3_HUMAN SIK family kinase 3 699 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 CGTGAGGCTGGATCATGGCAC 0.498000 44 294 0 0 0.014410 0 0 MAGI2 9863 broad.mit.edu 37 7 77824342 77824342 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:77824342C>T ENST00000354212.4 - 12 2371 c.2118G>A c.(2116-2118)acG>acA p.T706T MAGI2_ENST00000522391.1_Silent_p.T706T|MAGI2_ENST00000419488.1_Silent_p.T706T NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 706 cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CAGATAAACTCGTTTGAGGAC 0.507000 7 36 0 0 0.004482 0 0 RSBN1 54665 broad.mit.edu 37 1 114354713 114354713 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:114354713G>A ENST00000261441.5 - 1 385 c.322C>T c.(322-324)Cct>Tct p.P108S NM_018364.3 NP_060834.2 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 108 Pro-rich. nucleus breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2) 29 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GGAGCGAGAGGGGGCTCCTGG 0.697000 5 13 0 0 0.001984 0 0 PTPRC 5788 broad.mit.edu 37 1 198687359 198687359 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:198687359T>C ENST00000367376.2 + 14 1752 c.1581T>C c.(1579-1581)gtT>gtC p.V527V PTPRC_ENST00000352140.3_Silent_p.V479V|PTPRC_ENST00000348564.6_Silent_p.V368V|PTPRC_ENST00000442510.2_Silent_p.V529V|PTPRC_ENST00000594404.1_Silent_p.V366V NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 527 Fibronectin type-III 2. 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 ATACTCTGGTTAGAAATGAGT 0.393000 11 23 0 0 0.008291 0 0 NOG 9241 broad.mit.edu 37 17 54671853 54671853 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:54671853G>A ENST00000332822.4 + 1 794 c.269G>A c.(268-270)gGg>gAg p.G90E NM_005450.4 NP_005441.1 Q13253 NOGG_HUMAN noggin 90 BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing extracellular space cytokine binding|protein homodimerization activity ovary(1) 1 Breast(9;5.24e-08) cggcccggcgggggcgggggT 0.721000 14 14 0 0 0.002450 0 0 ITGA8 8516 broad.mit.edu 37 10 15646320 15646320 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:15646320G>A ENST00000378076.3 - 20 2358 c.2005C>T c.(2005-2007)Cac>Tac p.H669Y NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 669 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 AGCATAAGGTGATTTTCATCT 0.343000 6 25 0 0 0.001168 0 0 PKDREJ 10343 broad.mit.edu 37 22 46653856 46653856 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:46653856G>A ENST00000253255.5 - 1 5363 c.5364C>T c.(5362-5364)atC>atT p.I1788I NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1788 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) GAAGGCCAAGGATTTTAGACG 0.413000 64 74 0 0 0.014410 0 0 OR1J2 26740 broad.mit.edu 37 9 125273488 125273488 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:125273488G>A ENST00000335302.5 + 1 408 c.408G>A c.(406-408)atG>atA p.M136I NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 CTGTCATCATGAGGGAAGAGC 0.458000 11 30 0 0 0.010729 0 0 C12orf42 374470 broad.mit.edu 37 12 103795408 103795408 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:103795408C>T ENST00000378113.2 - 3 349 c.124G>A c.(124-126)Gat>Aat p.D42N C12orf42_ENST00000548883.1_Missense_Mutation_p.D42N|C12orf42_ENST00000548048.1_5'UTR|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000315192.8_Missense_Mutation_p.D42N NM_001099336.1 NP_001092806.1 Q96LP6 CL042_HUMAN chromosome 12 open reading frame 42 42 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 GTGCTTCTATCCCACAGGGTG 0.438000 18 13 0 0 0.006122 0 0 PCDH17 27253 broad.mit.edu 37 13 58299120 58299120 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:58299120G>A ENST00000377918.3 + 4 3198 c.3172G>A c.(3172-3174)Gaa>Aaa p.E1058K NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 1058 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GGATGGCTGTGAAGCAAAACC 0.552000 4 34 0 0 0.009096 0 0 PRKACG 5568 broad.mit.edu 37 9 71628844 71628844 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:71628844G>A ENST00000377276.2 - 1 195 c.165C>T c.(163-165)ttC>ttT p.F55F NM_002732.3 NP_002723.2 P22612 KAPCG_HUMAN protein kinase, cAMP-dependent, catalytic, gamma 55 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport cytosol|nucleoplasm ATP binding|cAMP-dependent protein kinase activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 TCACCCGCCCGAAGGAGCCCA 0.592000 10 52 0 0 0.008291 0 0 APP 351 broad.mit.edu 37 21 27423460 27423460 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr21:27423460G>A ENST00000358918.3 - 5 717 c.518C>T c.(517-519)cCc>cTc p.P173L APP_ENST00000448388.2_Missense_Mutation_p.P138L|APP_ENST00000359726.3_Missense_Mutation_p.P173L|APP_ENST00000354192.3_Missense_Mutation_p.P117L|APP_ENST00000439274.2_Missense_Mutation_p.P117L|APP_ENST00000348990.5_Missense_Mutation_p.P173L|APP_ENST00000346798.3_Missense_Mutation_p.P173L|APP_ENST00000440126.3_Missense_Mutation_p.P168L|APP_ENST00000474136.1_5'UTR|APP_ENST00000357903.3_Missense_Mutation_p.P173L NM_001204301.1|NM_001204302.1 NP_001191230.1|NP_001191231.1 P05067 A4_HUMAN amyloid beta (A4) precursor protein 173 adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(209;0.00295) AATTCCGCAGGGCAGCAACAT 0.478000 10 6 0 0 0.013537 0 0 ZNF439 90594 broad.mit.edu 37 19 11978815 11978815 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:11978815C>T ENST00000304030.2 + 3 1131 c.931C>T c.(931-933)Cgt>Tgt p.R311C ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Missense_Mutation_p.R175C NM_152262.2 NP_689475.1 Q8NDP4 ZN439_HUMAN zinc finger protein 439 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2) 27 CATGTGTCCCCGTTATGTTCG 0.413000 29 40 0 0 0.007291 0 0 CES1P1 51716 broad.mit.edu 37 16 55798809 55798809 + RNA SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:55798809C>A ENST00000571348.1 + 0 296 NR_003276.2 CACCTCGTACCCTCCTATGTA 0.567000 9 5 4.68919e-08 5.11239e-08 0.008291 1 0 PKD1L1 168507 broad.mit.edu 37 7 47879094 47879094 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:47879094G>A ENST00000289672.2 - 36 5769 c.5719C>T c.(5719-5721)Cgc>Tgc p.R1907C NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1907 PLAT. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CGCTCCACGCGACCATCATGC 0.657000 4 27 0 0 0.001168 0 0 TENM4 26011 broad.mit.edu 37 11 78383364 78383364 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:78383364C>T ENST00000278550.7 - 31 5969 c.5507G>A c.(5506-5508)cGa>cAa p.R1836Q NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 TAGGAGATTTCGGTTGTGAAC 0.502000 5 66 0 0 0.001984 0 0 PAPPA 5069 broad.mit.edu 37 9 118969825 118969825 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:118969825G>A ENST00000328252.3 + 3 1938 c.1569G>A c.(1567-1569)gaG>gaA p.E523E PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 523 Metalloprotease. 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 CCTCAGAGGAGGAGTTGGCAG 0.443000 10 30 0 0 0.006214 0 0 OR8K5 219453 broad.mit.edu 37 11 55927621 55927621 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:55927621G>A ENST00000313447.1 - 1 172 c.173C>T c.(172-174)cCt>cTt p.P58L NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) AAAGTACATAGGTGTATGTAA 0.403000 21 31 0 0 0.014323 0 0 C3 718 broad.mit.edu 37 19 6697421 6697421 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:6697421C>T ENST00000245907.6 - 21 2822 c.2730G>A c.(2728-2730)gtG>gtA p.V910V NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 910 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CCTTGACTTCCACTTCCTGCA 0.567000 8 39 0 0 0.003080 0 0 TENM1 10178 broad.mit.edu 37 X 123654524 123654524 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:123654524C>T ENST00000422452.2 - 18 3207 c.3144G>A c.(3142-3144)acG>acA p.T1048T TENM1_ENST00000371130.3_Silent_p.T1048T NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CTACAGGAATCGTTGAATGTG 0.493000 45 16 0 0 0.014410 0 0 IVL 3713 broad.mit.edu 37 1 152882695 152882695 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:152882695G>A ENST00000368764.3 + 2 486 c.422G>A c.(421-423)aGa>aAa p.R141K IVL_ENST00000392667.2_5'UTR P07476 INVO_HUMAN involucrin 141 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CTAGTCAAGAGAGATGAGCAA 0.502000 16 33 0 0 0.003163 0 0 CCAR1 55749 broad.mit.edu 37 10 70509354 70509354 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:70509354C>T ENST00000265872.6 + 10 1149 c.1030C>T c.(1030-1032)Cca>Tca p.P344S CCAR1_ENST00000543719.1_Missense_Mutation_p.P329S|CCAR1_ENST00000535016.1_Missense_Mutation_p.P329S NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 344 Arg-rich. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 GGAAAGATCTCCACGAAGAGA 0.433000 16 23 0 0 0.003163 0 0 KCNQ3 3786 broad.mit.edu 37 8 133192419 133192419 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:133192419G>A ENST00000388996.4 - 4 1182 c.762C>T c.(760-762)atC>atT p.I254I KCNQ3_ENST00000521134.1_Silent_p.I134I|KCNQ3_ENST00000519445.1_Silent_p.I254I NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 254 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TGTGGGCACAGATGGCTGAGC 0.597000 24 42 0 0 0.004656 0 0 DENND4A 10260 broad.mit.edu 37 15 65964189 65964189 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:65964189C>T ENST00000443035.3 - 25 4617 c.4402G>A c.(4402-4404)Gaa>Aaa p.E1468K DENND4A_ENST00000431932.2_Missense_Mutation_p.E1425K NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 1425 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 GATGTCACTTCTGATTTCCCA 0.348000 17 70 0 0 0.008871 0 0 CSF1R 1436 broad.mit.edu 37 5 149452973 149452973 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:149452973C>T ENST00000286301.3 - 7 1264 c.973G>A c.(973-975)Gtg>Atg p.V325M CSF1R_ENST00000543093.1_Intron NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 325 Ig-like C2-type 4. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) TAGGCCTCCACCATGACTTTG 0.552000 34 93 0 0 0.003271 0 0 NTSR1 4923 broad.mit.edu 37 20 61391529 61391529 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:61391529G>A ENST00000370501.3 + 4 1538 c.1167G>A c.(1165-1167)agG>agA p.R389R NTSR1_ENST00000482259.1_3'UTR NM_002531.2 NP_002522.2 P30989 NTR1_HUMAN neurotensin receptor 1 (high affinity) 389 endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3) 27 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) GGCGGCGCAGGAGGAAGAGGC 0.642000 15 62 0 0 0.002450 0 0 RBMXL1 494115 broad.mit.edu 37 1 89449212 89449212 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:89449212G>A ENST00000399794.2 - 3 1013 c.298C>T c.(298-300)Cca>Tca p.P100S CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.P100S|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000446900.2_Intron NM_001162536.2 NP_001156008.1 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 100 nucleotide binding|RNA binding CTACTTCTTGGAGGTGGGGGC 0.512000 33 64 0 0 0.012213 0 0 BCL9L 283149 broad.mit.edu 37 11 118769796 118769796 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:118769796G>A ENST00000334801.3 - 8 4792 c.3828C>T c.(3826-3828)ccC>ccT p.P1276P BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 1276 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GGTGCTGCTGGGGAGGCATGG 0.716000 6 10 0 0 0.001984 0 0 SERPINA5 5104 broad.mit.edu 37 14 95054273 95054273 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:95054273G>A ENST00000329597.7 + 3 784 c.574G>A c.(574-576)Gat>Aat p.D192N SERPINA5_ENST00000554276.1_Missense_Mutation_p.D192N|SERPINA5_ENST00000554866.1_Missense_Mutation_p.D192N|SERPINA5_ENST00000553780.1_Missense_Mutation_p.D192N NM_000624.4 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 192 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) TAAGAACCTCGATAGCAATGC 0.463000 43 74 0 0 0.014410 0 0 PIGR 5284 broad.mit.edu 37 1 207112587 207112587 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:207112587C>T ENST00000356495.4 - 3 448 c.265G>A c.(265-267)Gag>Aag p.E89K NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 89 Ig-like V-type 1. extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GTGCCGTTCTCCGGGAAGTTG 0.587000 13 31 0 0 0.013537 0 0 KDM2A 22992 broad.mit.edu 37 11 66948824 66948824 + Nonsense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:66948824T>A ENST00000529006.2 + 4 661 c.215T>A c.(214-216)tTg>tAg p.L72* KDM2A_ENST00000398645.2_Nonsense_Mutation_p.L72* NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 72 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 CGGGGTGGCTTGAGAGATCCT 0.373000 3 15 0 0 0.009096 0 0 GPR132 29933 broad.mit.edu 37 14 105517529 105517529 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:105517529G>A ENST00000329797.3 - 4 1856 c.945C>T c.(943-945)tcC>tcT p.S315S GPR132_ENST00000392585.2_Silent_p.S306S|GPR132_ENST00000539291.2_Silent_p.S315S NM_013345.2 NP_037477.1 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 315 response to stress integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 18 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) CTTCTTGGCGGGAATGGTCCG 0.577000 7 29 0 0 0.001984 0 0 KLF17 128209 broad.mit.edu 37 1 44595815 44595815 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:44595815G>A ENST00000372299.3 + 2 930 c.872G>A c.(871-873)gGa>gAa p.G291E KLF17_ENST00000476802.1_3'UTR NM_173484.3 NP_775755.3 Q5JT82 KLF17_HUMAN Kruppel-like factor 17 291 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.G291E(1) NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) GAGAACTGCGGAAAAGCTTAT 0.577000 11 74 0 0 0.008291 0 0 RYR3 6263 broad.mit.edu 37 15 33954891 33954891 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:33954891C>T ENST00000389232.4 + 35 5230 c.5160C>T c.(5158-5160)ttC>ttT p.F1720F RYR3_ENST00000415757.3_Silent_p.F1720F NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1720 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTGTGGAGTTCCAGTTTGTGC 0.562000 10 35 0 0 0.008291 0 0 MAP4 4134 broad.mit.edu 37 3 47950923 47950923 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:47950923G>A ENST00000426837.2 - 10 5126 c.5039C>T c.(5038-5040)cCa>cTa p.P1680L MAP4_ENST00000395734.3_Intron|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.P270L P27816 MAP4_HUMAN microtubule-associated protein 4 1037 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) TTCACTTTTTGGAGACAAAAG 0.363000 29 130 0 0 0.007291 0 0 DDX43 55510 broad.mit.edu 37 6 74117797 74117797 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:74117797C>T ENST00000370336.4 + 9 1310 c.1152C>T c.(1150-1152)ttC>ttT p.F384F DDX43_ENST00000479773.1_3'UTR NM_018665.2 NP_061135.2 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 384 Helicase ATP-binding. intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 TGAGTAACTTCGTCAATCTGA 0.408000 18 25 0 0 0.008871 0 0 ADAM23 8745 broad.mit.edu 37 2 207482369 207482369 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:207482369G>A ENST00000374416.1 + 25 2478 c.2426G>A c.(2425-2427)gGa>gAa p.G809E ADAM23_ENST00000374415.3_3'UTR|ADAM23_ENST00000264377.3_3'UTR O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 0 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) GCGCTGGATGGACACCGCCTT 0.458000 5 12 0 0 0.001168 0 0 SLC22A11 55867 broad.mit.edu 37 11 64326681 64326681 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:64326681C>T ENST00000301891.4 + 2 842 c.468C>T c.(466-468)ggC>ggT p.G156G SLC22A11_ENST00000377581.3_Silent_p.G156G|SLC22A11_ENST00000377585.3_Silent_p.G156G|SLC22A11_ENST00000490834.1_Intron NM_018484.2 NP_060954.1 Q9NSA0 S22AB_HUMAN solute carrier family 22 (organic anion/urate transporter), member 11 156 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) TCCTGGTGGGCTCCTTTATCT 0.602000 27 47 0 0 0.008361 0 0 KCNT2 343450 broad.mit.edu 37 1 196434428 196434428 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:196434428G>A ENST00000451324.2 - 8 682 c.13C>T c.(13-15)Cac>Tac p.H5Y KCNT2_ENST00000367433.5_Silent_p.F211F|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Silent_p.F211F|KCNT2_ENST00000367431.4_Silent_p.F211F Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 0 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 CTTACCAGGTGAAGATAAGGC 0.269000 26 54 0 0 0.007291 0 0 SULF1 23213 broad.mit.edu 37 8 70501326 70501326 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:70501326G>A ENST00000260128.4 + 8 1401 c.684G>A c.(682-684)gaG>gaA p.E228E SULF1_ENST00000419716.3_Silent_p.E228E|SULF1_ENST00000402687.4_Silent_p.E228E|SULF1_ENST00000458141.2_Silent_p.E228E NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 228 apoptosis|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)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) ACGGCCCCGAGGACTCAGCCC 0.488000 7 22 0 0 0.003080 0 0 FCRL1 115350 broad.mit.edu 37 1 157768003 157768003 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:157768003G>A ENST00000358292.3 - 7 996 c.945C>T c.(943-945)ttC>ttT p.F315F FCRL1_ENST00000368176.3_Silent_p.F354F|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Silent_p.F354F NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 354 integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TGAGGTAGGTGAACTCTTGGG 0.498000 20 36 0 0 0.010504 0 0 TRIM55 84675 broad.mit.edu 37 8 67066357 67066357 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:67066357G>A ENST00000315962.4 + 9 1685 c.1312G>A c.(1312-1314)Gat>Aat p.D438N TRIM55_ENST00000353317.5_Intron|TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000276573.7_Missense_Mutation_p.D438N NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 438 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) AGAAACTGCGGATCCCTTGTT 0.537000 6 48 0 0 0.001984 0 0 GEMIN5 25929 broad.mit.edu 37 5 154282694 154282694 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:154282694G>A ENST00000285873.7 - 19 2749 c.2674C>T c.(2674-2676)Cat>Tat p.H892Y NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 892 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AGCCCCAGATGAAATCTTTCC 0.353000 9 42 0 0 0.010729 0 0 IVL 3713 broad.mit.edu 37 1 152883792 152883792 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:152883792G>A ENST00000368764.3 + 2 1583 c.1519G>A c.(1519-1521)Gaa>Aaa p.E507K IVL_ENST00000392667.2_Missense_Mutation_p.E361K P07476 INVO_HUMAN involucrin 507 39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD]. isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ggaacagcaggaaaagcacct 0.597000 3 3 0 0 0.004672 0 0 CERKL 375298 broad.mit.edu 37 2 182412563 182412563 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:182412563C>T ENST00000410087.3 - 9 1245 c.1145G>A c.(1144-1146)gGa>gAa p.G382E CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.G364E|CERKL_ENST00000374970.2_Missense_Mutation_p.G313E|CERKL_ENST00000339098.5_Missense_Mutation_p.G408E|CERKL_ENST00000374969.2_Missense_Mutation_p.G269E NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 408 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) TTTGGGAGATCCCTGTGCCCT 0.393000 33 99 0 0 0.004878 0 0 MAS1 4142 broad.mit.edu 37 6 160328632 160328632 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:160328632G>A ENST00000252660.4 + 1 659 c.645G>A c.(643-645)cgG>cgA p.R215R NM_002377.2 NP_002368.1 P04201 MAS_HUMAN MAS1 oncogene 215 anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade integral to plasma membrane angiotensin type II receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06) TGAAGATCCGGAAGAACACGT 0.498000 16 35 0 0 0.003163 0 0 FMO3 2328 broad.mit.edu 37 1 171083156 171083156 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:171083156G>A ENST00000367755.4 + 7 948 c.837G>A c.(835-837)agG>agA p.R279R FMO3_ENST00000538429.1_Silent_p.R216R|FMO3_ENST00000542847.1_Silent_p.R259R|FMO3_ENST00000392085.2_Silent_p.R279R NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 279 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GAGTCCTGAGGAAAGAGCCTG 0.398000 7 23 0 0 0.004482 0 0 CTNNA2 1496 broad.mit.edu 37 2 80816456 80816456 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:80816456G>A ENST00000466387.1 + 19 2759 c.2035G>A c.(2035-2037)Gag>Aag p.E679K CTNNA2_ENST00000496558.1_Missense_Mutation_p.E679K|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000540488.1_Missense_Mutation_p.E679K|CTNNA2_ENST00000343114.3_Missense_Mutation_p.E358K|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000402739.4_Missense_Mutation_p.E679K|CTNNA2_ENST00000361291.4_Missense_Mutation_p.E713K|CTNNA2_ENST00000541047.1_Missense_Mutation_p.E679K|AC008067.2_ENST00000430876.1_RNA P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 679 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 ACCGCAGGAGGAGAAGGCAAA 0.498000 15 12 0 0 0.002450 0 0 GNL2 29889 broad.mit.edu 37 1 38039990 38039990 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:38039990G>A ENST00000373062.3 - 12 1468 c.1370C>T c.(1369-1371)cCt>cTt p.P457L NM_013285.2 NP_037417.1 Q13823 NOG2_HUMAN guanine nucleotide binding protein-like 2 (nucleolar) 457 ribosome biogenesis nucleolus GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 30 Myeloproliferative disorder(586;0.0393) GACAAAGAAAGGAATCCGGCC 0.552000 5 30 0 0 0.001168 0 0 OR2Y1 134083 broad.mit.edu 37 5 180166517 180166517 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:180166517G>A ENST00000307832.2 - 1 582 c.542C>T c.(541-543)cCt>cTt p.P181L NM_001001657.1 NP_001001657.1 Q8NGV0 OR2Y1_HUMAN olfactory receptor, family 2, subfamily Y, member 1 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAGAAATACAGGCATCTCACA 0.522000 10 20 0 0 0.010729 0 0 TLR4 7099 broad.mit.edu 37 9 120475051 120475051 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:120475051G>A ENST00000355622.6 + 3 746 c.645G>A c.(643-645)atG>atA p.M215I TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.M175I NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 215 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 TGAACCCTATGAACTTTATCC 0.348000 14 39 0 0 0.001855 0 0 CAPN13 92291 broad.mit.edu 37 2 30976012 30976012 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:30976012C>T ENST00000295055.8 - 10 1170 c.994G>A c.(994-996)Gaa>Aaa p.E332K CAPN13_ENST00000534090.2_Missense_Mutation_p.E332K NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 332 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) ATTGGAATTTCGCTACATATA 0.423000 22 115 0 0 0.003954 0 0 ABCC8 6833 broad.mit.edu 37 11 17436059 17436059 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:17436059C>T ENST00000302539.4 - 19 2518 c.2393_splice c.e19+1 p.R798_splice ABCC8_ENST00000389817.3_Splice_Site_p.R797_splice NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 797 ABC transporter 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity p.R797L(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AGGCTTTTACCGTTGTTTGTT 0.582000 48 260 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179534347 179534347 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179534347C>T ENST00000589042.1 - 158 35666 c.35442G>A c.(35440-35442)ctG>ctA p.L11814L TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9937 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) CAGGCTTTTTCAGAACAGCTT 0.328000 67 134 0 0 0.014410 0 0 CORIN 10699 broad.mit.edu 37 4 47647188 47647188 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:47647188C>T ENST00000273857.4 - 14 1866 c.1867G>A c.(1867-1869)Gaa>Aaa p.E623K CORIN_ENST00000505909.1_Missense_Mutation_p.E586K|CORIN_ENST00000504584.1_Missense_Mutation_p.E586K|CORIN_ENST00000502252.1_Missense_Mutation_p.E556K|CORIN_ENST00000508498.1_Missense_Mutation_p.E484K NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 623 LDL-receptor class A 6. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 GATGGACATTCCCAAAGATCT 0.373000 27 36 0 0 0.007291 0 0 MUC4 4585 broad.mit.edu 37 3 195505259 195505259 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:195505259G>A ENST00000463781.3 - 3 13317 c.12858C>T c.(12856-12858)acC>acT p.T4286T MUC4_ENST00000346145.4_Silent_p.T50T|MUC4_ENST00000475231.1_Silent_p.T4286T|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1043 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGGTCTGGGAGGTTGTGGGGG 0.592000 18 37 0 0 0.007413 0 0 ITGAX 3687 broad.mit.edu 37 16 31367283 31367283 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:31367283G>A ENST00000268296.4 + 2 228 c.107G>A c.(106-108)gGg>gAg p.G36E ITGAX_ENST00000562522.1_Missense_Mutation_p.G36E|ITGAX_ENST00000562918.1_3'UTR NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 36 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 GACAGCGCTGGGTTTGGAGAC 0.587000 21 77 0 0 0.002780 0 0 DNAH5 1767 broad.mit.edu 37 5 13793832 13793832 + Silent SNP C C T rs112594597 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:13793832C>T ENST00000265104.4 - 49 8120 c.8016G>A c.(8014-8016)acG>acA p.T2672T NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2672 AAA 3 (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) CTATCTCATTCGTAACCTACA 0.423000 Kartagener syndrome 10 39 0 0 0.008291 0 0 KRT83 3889 broad.mit.edu 37 12 52708473 52708473 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:52708473G>A ENST00000293670.3 - 9 1486 c.1424C>T c.(1423-1425)cCc>cTc p.P475L NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 475 Tail. 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) CTGGCCACAGGGCTTGCACAA 0.672000 3 4 0 0 0.004672 0 0 SCN11A 11280 broad.mit.edu 37 3 38961481 38961481 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:38961481C>T ENST00000450244.1 - 7 1102 c.904G>A c.(904-906)Gaa>Aaa p.E302K SCN11A_ENST00000302328.3_Missense_Mutation_p.E302K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E302K|SCN11A_ENST00000456224.3_Missense_Mutation_p.E302K Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 302 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TCTTTCTTTTCAAAGCAATGG 0.333000 15 36 0 0 0.004990 0 0 PRR23B 389151 broad.mit.edu 37 3 138739116 138739116 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:138739116C>T ENST00000329447.5 - 1 652 c.388G>A c.(388-390)Gct>Act p.A130T MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 130 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TCCCTGACAGCGCCCAGGAAA 0.642000 13 32 0 0 0.001855 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102478443 102478443 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:102478443C>T ENST00000360184.4 + 33 7014 c.6850C>T c.(6850-6852)Ctg>Ttg p.L2284L NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 2284 AAA 2 (By similarity). 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 CACACACGTGCTGAGAAAGTA 0.498000 13 61 0 0 0.004990 0 0 PRKG1 5592 broad.mit.edu 37 10 54040660 54040660 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:54040660C>T ENST00000373980.4 + 13 1932 c.1515C>T c.(1513-1515)ctC>ctT p.L505L PRKG1-AS1_ENST00000452247.2_RNA|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Silent_p.L478L|PRKG1_ENST00000373975.2_Silent_p.L208L|PRKG1_ENST00000401604.2_Silent_p.L490L NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 490 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) CAGAAAATCTCATCCTAGATC 0.388000 11 29 0 0 0.002450 0 0 MEFV 4210 broad.mit.edu 37 16 3293195 3293195 + Silent SNP C C T rs142352887 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:3293195C>T ENST00000219596.1 - 10 2331 c.2292G>A c.(2290-2292)ggG>ggA p.G764G MEFV_ENST00000536379.1_Silent_p.G553G|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.G584G NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 764 B30.2/SPRY. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) CTGTGTTCTTCCCTCCATCAC 0.527000 13 34 0 0 0.001855 0 0 TIAM1 7074 broad.mit.edu 37 21 32496913 32496913 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr21:32496913G>A ENST00000286827.3 - 28 4704 c.4233C>T c.(4231-4233)tcC>tcT p.S1411S TIAM1_ENST00000541036.1_Silent_p.S1351S NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1411 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CATATTGCTGGGATGAGGGAA 0.542000 18 20 0 0 0.007413 0 0 KRT38 8687 broad.mit.edu 37 17 39595036 39595036 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:39595036C>T ENST00000246646.3 - 4 806 c.807G>A c.(805-807)ctG>ctA p.L269L NM_006771.3 NP_006762.3 O76015 KRT38_HUMAN keratin 38 269 Coil 2.|Rod. intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) GCACCCTGTTCAGGTCAATGG 0.582000 53 35 0 0 0.014410 0 0 CERS2 29956 broad.mit.edu 37 1 150936860 150936860 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:150936860C>T ENST00000561294.1 - 10 1088 c.1067G>A c.(1066-1068)gGt>gAt p.G356D SETDB1_ENST00000271640.5_3'UTR|SETDB1_ENST00000368969.4_3'UTR Q96G23 CERS2_HUMAN ceramide synthase 2 0 endoplasmic reticulum membrane|integral to membrane|nuclear membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity TTCTTCCCAACCCTTCTTGAA 0.532000 4 10 0 0 0.009096 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171766262 171766262 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:171766262G>A ENST00000311601.5 - 13 2017 c.1847C>T c.(1846-1848)tCc>tTc p.S616F SH3PXD2B_ENST00000519643.1_Intron NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 616 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TTTGGATTTGGAGATGGGCCG 0.537000 18 33 0 0 0.006122 0 0 CYP4F3 4051 broad.mit.edu 37 19 15770121 15770121 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:15770121G>A ENST00000221307.7 + 13 1537 c.1489G>A c.(1489-1491)Gag>Aag p.E497K CYP4F3_ENST00000591058.1_Missense_Mutation_p.E497K|CYP4F3_ENST00000585846.1_Missense_Mutation_p.E497K|CYP4F3_ENST00000586182.1_Missense_Mutation_p.E497K NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 497 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 TGACCACACCGAGCCCCGCAG 0.682000 8 14 0 0 0.004482 0 0 CPED1 79974 broad.mit.edu 37 7 120740016 120740016 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:120740016C>T ENST00000310396.5 + 7 1253 c.786C>T c.(784-786)atC>atT p.I262I CPED1_ENST00000423795.1_Silent_p.I42I|CPED1_ENST00000450913.2_Silent_p.I262I NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 ATGAAACAATCTTTCGAGCCG 0.393000 10 18 0 0 0.013537 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37490169 37490169 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:37490169C>T ENST00000374660.1 + 37 3073 c.2974C>T c.(2974-2976)Cgt>Tgt p.R992C ANKRD30A_ENST00000361713.1_Missense_Mutation_p.R873C|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.R873C Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1023 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ACAGAGTCTCCGTGAGACTGT 0.274000 7 43 0 0 0.010729 0 0 ABCC9 10060 broad.mit.edu 37 12 21970222 21970222 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:21970222C>T ENST00000261200.4 - 31 3790 c.3791G>A c.(3790-3792)tGg>tAg p.W1264* ABCC9_ENST00000345162.2_Nonsense_Mutation_p.W1228*|ABCC9_ENST00000261201.4_Nonsense_Mutation_p.W1264* NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1264 ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CCTCACAACCCAATTCAAATA 0.388000 56 33 0 0 0.014410 0 0 CACNG1 786 broad.mit.edu 37 17 65050168 65050168 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:65050168G>A ENST00000226021.3 + 2 357 c.286G>A c.(286-288)Gaa>Aaa p.E96K NM_000727.3 NP_000718.1 Q06432 CCG1_HUMAN calcium channel, voltage-dependent, gamma subunit 1 96 muscle contraction voltage-gated calcium channel complex voltage-gated calcium channel activity breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2) 8 all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12) Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661) GGAGATCTTCGAATTCACCAC 0.542000 50 25 0 0 0.014410 0 0 MXRA5 25878 broad.mit.edu 37 X 3240208 3240208 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:3240208G>A ENST00000217939.6 - 5 3672 c.3518C>T c.(3517-3519)aCt>aTt p.T1173I NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1173 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGGGGCAAAAGTTGTGGGTGG 0.507000 51 29 0 0 0.014410 0 0 ABCC3 8714 broad.mit.edu 37 17 48735493 48735493 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:48735493C>T ENST00000285238.8 + 5 617 c.537C>T c.(535-537)gcC>gcT p.A179A ABCC3_ENST00000427699.1_Silent_p.A179A NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 179 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) TCCACTTTGCCCTGGTACTCT 0.572000 51 32 0 0 0.014410 0 0 SELP 6403 broad.mit.edu 37 1 169586518 169586518 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:169586518C>T ENST00000263686.6 - 3 266 c.229G>A c.(229-231)Gat>Aat p.D77N SELP_ENST00000367786.2_Missense_Mutation_p.D77N|SELP_ENST00000367792.2_Missense_Mutation_p.D77N|SELP_ENST00000367791.2_Missense_Mutation_p.D77N|SELP_ENST00000367788.2_Missense_Mutation_p.D77N|SELP_ENST00000367794.2_Missense_Mutation_p.D77N|SELP_ENST00000458599.2_Missense_Mutation_p.D77N|SELP_ENST00000367793.2_Missense_Mutation_p.D77N NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 77 C-type lectin. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) TTGAGGTAATCAATTTCATTT 0.408000 33 105 0 0 0.003755 0 0 EPB41L2 2037 broad.mit.edu 37 6 131247777 131247777 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:131247777C>T ENST00000337057.3 - 4 959 c.778G>A c.(778-780)Gga>Aga p.G260R EPB41L2_ENST00000525271.1_Missense_Mutation_p.G260R|EPB41L2_ENST00000368128.2_Missense_Mutation_p.G260R|EPB41L2_ENST00000525193.1_Missense_Mutation_p.G260R|EPB41L2_ENST00000530481.1_Missense_Mutation_p.G260R|EPB41L2_ENST00000445890.2_Missense_Mutation_p.G260R|EPB41L2_ENST00000527659.1_Missense_Mutation_p.G260R|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000392427.3_Missense_Mutation_p.G260R|EPB41L2_ENST00000528282.1_Missense_Mutation_p.G260R|EPB41L2_ENST00000527411.1_Missense_Mutation_p.G260R|EPB41L2_ENST00000529208.1_Missense_Mutation_p.G260R NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 260 FERM. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) AACAAAAGTCCAAAGTAGTCT 0.308000 22 76 0 0 0.003954 0 0 PCSK9 255738 broad.mit.edu 37 1 55512300 55512300 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:55512300G>A ENST00000302118.5 + 3 794 c.504G>A c.(502-504)gcG>gcA p.A168A PCSK9_ENST00000543384.1_Intron|PCSK9_ENST00000452118.2_Silent_p.A168A NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 168 Peptidase S8. cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 GGTACCGGGCGGATGAATACC 0.617000 87 181 0 0 0.014410 0 0 OTOL1 131149 broad.mit.edu 37 3 161221691 161221691 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:161221691C>T ENST00000327928.4 + 4 1395 c.1395C>T c.(1393-1395)ttC>ttT p.F465F NM_001080440.1 NP_001073909.1 A6NHN0 OTOL1_HUMAN otolin 1 465 C1q. collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 TTACTGGGTTCCTTTTGTACC 0.408000 9 23 0 0 0.008291 0 0 S100PBP 64766 broad.mit.edu 37 1 33321617 33321617 + Missense_Mutation SNP T T G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:33321617T>G ENST00000373475.5 + 7 1459 c.1205T>G c.(1204-1206)cTc>cGc p.L402R S100PBP_ENST00000373476.1_Missense_Mutation_p.L402R NM_022753.3 NP_073590.2 Q96BU1 S1PBP_HUMAN S100P binding protein 402 nucleus calcium-dependent protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) TTCCAGCGTCTCCCAGACTTC 0.493000 13 31 0 0 0.002450 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136321 40136321 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:40136321G>A ENST00000278198.2 - 2 3485 c.1522C>T c.(1522-1524)Cca>Tca p.P508S LRRC4C_ENST00000527150.1_Missense_Mutation_p.P508S|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P508S|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P508S Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 508 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) TCAGTCACTGGGATGGTGAAG 0.502000 15 50 0 0 0.004990 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55378900 55378900 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:55378900C>T ENST00000398661.2 - 6 709 c.578G>A c.(577-579)gGa>gAa p.G193E HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000428842.1_Missense_Mutation_p.G131E|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.G131E|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.G163E NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 193 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) CTCAAATTTTCCCATACTTTC 0.368000 12 41 0 0 0.013537 0 0 GRIK3 2899 broad.mit.edu 37 1 37270698 37270698 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:37270698G>A ENST00000373091.3 - 15 2471 c.2455C>T c.(2455-2457)Cag>Tag p.Q819* GRIK3_ENST00000373093.4_Nonsense_Mutation_p.Q819* NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 819 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CCGATCTTCTGGATCCCCAGG 0.597000 18 78 0 0 0.012319 0 0 EBF2 64641 broad.mit.edu 37 8 25747281 25747281 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:25747281G>A ENST00000520164.1 - 8 1275 c.738C>T c.(736-738)ctC>ctT p.L246L EBF2_ENST00000408929.3_Silent_p.L98L NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 246 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) CCGATGGATCGAGTCTTCTTG 0.463000 17 33 0 0 0.012319 0 0 LGALS9B 284194 broad.mit.edu 37 17 20361571 20361571 + Missense_Mutation SNP C C G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:20361571C>G ENST00000423676.3 - 3 321 c.258G>C c.(256-258)gaG>gaC p.E86D LGALS9B_ENST00000324290.5_Missense_Mutation_p.E86D Q3B8N2 LEG9B_HUMAN lectin, galactoside-binding, soluble, 9B 86 Beta-galactoside binding 1 (By similarity).|Galectin 1. sugar binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 10 GCATCTTCCTCTCCTCGGGCC 0.552000 28 83 0 0 0.008361 0 0 LRRK2 120892 broad.mit.edu 37 12 40716175 40716175 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:40716175G>A ENST00000298910.7 + 37 5430 c.5372G>A c.(5371-5373)tGg>tAg p.W1791* NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1791 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) ATGGAAGAATGGTTTCCTGGG 0.388000 51 82 0 0 0.014410 0 0 TECTA 7007 broad.mit.edu 37 11 121061511 121061511 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:121061511C>T ENST00000392793.1 + 24 6735 c.6464C>T c.(6463-6465)tCa>tTa p.S2155L TECTA_ENST00000264037.2_Missense_Mutation_p.S2155L O75443 TECTA_HUMAN tectorin alpha 2155 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GGCACGACCTCATAATTAACT 0.358000 5 15 0 0 0.000602 0 0 OR5M10 390167 broad.mit.edu 37 11 56344834 56344834 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:56344834G>A ENST00000526812.2 - 1 429 c.364C>T c.(364-366)Cgc>Tgc p.R122C NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 GCTACATAGCGATCCAATGCC 0.453000 12 48 0 0 0.010729 0 0 FREM1 158326 broad.mit.edu 37 9 14819263 14819263 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:14819263A>T ENST00000380881.4 - 15 3333 c.2518T>A c.(2518-2520)Tct>Act p.S840T FREM1_ENST00000380880.3_Missense_Mutation_p.S839T|FREM1_ENST00000422223.2_Missense_Mutation_p.S839T Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 839 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding p.S840fs*8(1) breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TCGCCCCAAGAAAATGTGCCC 0.428000 10 23 0 0 0.010729 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6528454 6528454 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:6528454G>A ENST00000377748.1 - 21 3170 c.2673C>T c.(2671-2673)tcC>tcT p.S891S PLEKHG5_ENST00000377732.1_Silent_p.S851S|PLEKHG5_ENST00000535355.1_Silent_p.S883S|PLEKHG5_ENST00000377737.2_Silent_p.S814S|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000400915.3_Silent_p.S870S|PLEKHG5_ENST00000377725.1_Silent_p.S814S|PLEKHG5_ENST00000400913.1_Silent_p.S814S|PLEKHG5_ENST00000340850.5_Silent_p.S814S|PLEKHG5_ENST00000377728.3_Silent_p.S814S|PLEKHG5_ENST00000537245.1_Silent_p.S893S|PLEKHG5_ENST00000544978.1_Silent_p.S814S NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 870 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CAGAGTCCATGGAGCAGGAGC 0.652000 5 8 0 0 0.001168 0 0 ENPP3 5169 broad.mit.edu 37 6 131973691 131973691 + Nonsense_Mutation SNP G G A rs150884645 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:131973691G>A ENST00000414305.1 + 5 615 c.287G>A c.(286-288)tGg>tAg p.W96* ENPP3_ENST00000427148.2_Nonsense_Mutation_p.W62*|ENPP3_ENST00000357639.3_Nonsense_Mutation_p.W96*|ENPP3_ENST00000358229.5_Nonsense_Mutation_p.W96*|ENPP3_ENST00000543135.1_Nonsense_Mutation_p.W62*|ENPP3_ENST00000470930.1_3'UTR O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 96 SMB 2. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) GCTCGAATATGGATGTGCAAT 0.353000 22 62 0 0 0.004656 0 0 LEPREL1 55214 broad.mit.edu 37 3 189691731 189691731 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:189691731C>T ENST00000319332.5 - 10 1712 c.1515G>A c.(1513-1515)aaG>aaA p.K505K LEPREL1_ENST00000427335.2_Silent_p.K324K NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 505 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus 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 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) CACCTTCAAACTTTTCATTGG 0.403000 64 116 0 0 0.014410 0 0 OMP 4975 broad.mit.edu 37 11 76813933 76813933 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:76813933C>T ENST00000529803.1 + 1 48 c.48C>T c.(46-48)gtC>gtT p.V16V CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Intron NM_006189.1 NP_006180.1 P47874 OMP_HUMAN olfactory marker protein 16 sensory perception of smell|synaptic transmission endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 TGCCGCTGGTCCTGGACCAGG 0.692000 11 9 0 0 0.010729 0 0 FMNL2 114793 broad.mit.edu 37 2 153475652 153475652 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:153475652C>T ENST00000288670.9 + 14 1974 c.1607C>T c.(1606-1608)tCa>tTa p.S536L NM_052905.3 NP_443137.2 Q96PY5 FMNL2_HUMAN formin-like 2 536 Pro-rich. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 CTGCCTCCCTCATCAGACACA 0.532000 6 19 0 0 0.001984 0 0 CD1B 910 broad.mit.edu 37 1 158300776 158300776 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:158300776G>A ENST00000368168.3 - 2 245 c.138C>T c.(136-138)ggC>ggT p.G46G NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 46 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) ACCAGCCTGAGCCTTGAGTTT 0.488000 96 164 0 0 0.014410 0 0 ADAM28 10863 broad.mit.edu 37 8 24193068 24193068 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:24193068G>A ENST00000265769.4 + 14 1591 c.1481G>A c.(1480-1482)gGc>gAc p.G494D RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.G241D|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.G494D|ADAM28_ENST00000540823.1_Missense_Mutation_p.G261D|RP11-624C23.1_ENST00000519689.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 494 Cys-rich. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding p.G494V(1) 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) CAAGTCAATGGCTTCCCTTGC 0.527000 8 16 0 0 0.003080 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24251645 24251645 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:24251645G>A ENST00000538205.1 + 5 658 c.111G>A c.(109-111)acG>acA p.T37T RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Silent_p.T116T|ADAMDEC1_ENST00000522298.1_Silent_p.T37T|RP11-624C23.1_ENST00000519689.1_RNA NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 116 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) AAATTACCACGAAACCTGAGA 0.458000 17 16 0 0 0.007413 0 0 ZNF831 128611 broad.mit.edu 37 20 57766169 57766169 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:57766169C>T ENST00000371030.2 + 1 95 c.95C>T c.(94-96)tCa>tTa p.S32L NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 32 Pro-rich. intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GGCCAGGCCTCACCTCACCTG 0.697000 6 42 0 0 0.001168 0 0 TRPV6 55503 broad.mit.edu 37 7 142572682 142572682 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:142572682G>A ENST00000359396.3 - 10 1506 c.1261C>T c.(1261-1263)Ctt>Ttt p.L421F NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 421 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) GGGCCCCCAAGGATGGTCTGT 0.542000 22 63 0 0 0.003330 0 0 ABCC6P1 653190 broad.mit.edu 37 16 18602603 18602603 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:18602603C>T ENST00000546162.2 + 0 1177 NR_003569.1 GTGATGTCTTCAGGTTCACTG 0.592000 27 57 0 0 0.004289 0 0 TAF1L 138474 broad.mit.edu 37 9 32630258 32630258 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:32630258C>T ENST00000242310.4 - 1 5409 c.5320G>A c.(5320-5322)Gaa>Aaa p.E1774K NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1774 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding p.E1774*(1) breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CCAGCATCTTCCTCATCATCT 0.453000 22 67 0 0 0.002780 0 0 AUTS2 26053 broad.mit.edu 37 7 70231204 70231204 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:70231204C>T ENST00000342771.4 + 9 1894 c.1573C>T c.(1573-1575)Cat>Tat p.H525Y AUTS2_ENST00000406775.2_Missense_Mutation_p.H525Y NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 525 His-rich. breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GACCGAGTTCCATcagcacca 0.637000 21 39 0 0 0.010504 0 0 AMPD1 270 broad.mit.edu 37 1 115220031 115220031 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:115220031G>A ENST00000369538.3 - 9 1463 c.1416C>T c.(1414-1416)ttC>ttT p.F472F AMPD1_ENST00000520113.2_Silent_p.F476F|AMPD1_ENST00000353928.6_Silent_p.F443F NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 443 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding p.F476L(1)|p.F443L(1) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-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) Adenosine monophosphate(DB00131) GATTGCAGACGAACCAGGAGG 0.562000 12 72 0 0 0.010729 0 0 BEND2 139105 broad.mit.edu 37 X 18192217 18192217 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:18192217A>T ENST00000380033.4 - 12 2046 c.1914T>A c.(1912-1914)agT>agA p.S638R BEND2_ENST00000380030.3_Missense_Mutation_p.S547R NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 638 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 GGATAGCATTACTGTTTGGCT 0.408000 11 21 0 0 0.013537 0 0 HAPLN1 1404 broad.mit.edu 37 5 82940236 82940236 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:82940236A>G ENST00000274341.4 - 4 1571 c.721T>C c.(721-723)Tgg>Cgg p.W241R NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 241 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) TCTTTATCCCAAAATCCGTAG 0.448000 8 31 0 0 0.004482 0 0 LY6G6D 58530 broad.mit.edu 37 6 31675540 31675540 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:31675540G>A ENST00000503322.1 + 2 361 c.358G>A c.(358-360)Gtg>Atg p.V120M XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000556581.1_Missense_Mutation_p.V120M|LY6G6F_ENST00000375832.4_Missense_Mutation_p.V120M GAACTGGAGGGTGTACGACGT 0.572000 101 187 0 0 0.014410 0 0 ASTN1 460 broad.mit.edu 37 1 177030393 177030393 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:177030393C>T ENST00000367654.2 - 2 305 c.292G>A c.(292-294)Ggg>Agg p.G98R ASTN1_ENST00000424564.2_Missense_Mutation_p.G98R|ASTN1_ENST00000367657.3_Missense_Mutation_p.G98R|ASTN1_ENST00000361833.2_Missense_Mutation_p.G98R|ASTN1_ENST00000281881.3_5'UTR O14525 ASTN1_HUMAN astrotactin 1 98 cell migration|neuron cell-cell adhesion integral to membrane p.G98R(1) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TCTGTGTTCCCTGAGATCTCT 0.483000 35 60 0 0 0.004289 0 0 IGHV2-26 28455 broad.mit.edu 37 14 106757818 106757818 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:106757818C>T ENST00000390611.2 - 0 212 CCAGGGCCTTCCCTGGGGGCT 0.537000 21 22 0 0 0.003330 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151152940 151152940 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:151152940C>T ENST00000367328.1 + 16 3005 c.2693C>T c.(2692-2694)gCt>gTt p.A898V PLEKHG1_ENST00000358517.2_Missense_Mutation_p.A898V NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 898 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) GAGAGCCAGGCTCTCCTCACG 0.617000 33 35 0 0 0.010818 0 0 INADL 10207 broad.mit.edu 37 1 62349956 62349956 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:62349956C>T ENST00000371158.2 + 22 3121 c.3007C>T c.(3007-3009)Cct>Tct p.P1003S INADL_ENST00000316485.6_Missense_Mutation_p.P1003S NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 1003 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 CATTGACCTTCCTGTTGTGGC 0.463000 45 108 0 0 0.011902 0 0 PROM2 150696 broad.mit.edu 37 2 95943211 95943211 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:95943211G>A ENST00000317620.9 + 7 1005 c.872G>A c.(871-873)cGg>cAg p.R291Q PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000403131.2_Missense_Mutation_p.R291Q|PROM2_ENST00000317668.4_Missense_Mutation_p.R291Q|PROM2_ENST00000542147.1_Missense_Mutation_p.R291Q NM_001165978.1 NP_001159450.1 Q8N271 PROM2_HUMAN prominin 2 291 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 CGGGAACACCGGGACCGCCTC 0.662000 8 18 0 0 0.008291 0 0 IGSF21 84966 broad.mit.edu 37 1 18618479 18618479 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:18618479G>A ENST00000251296.1 + 3 686 c.303G>A c.(301-303)gtG>gtA p.V101V NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 101 Ig-like 1. extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) AGTCCACTGTGAGGTGAGTGC 0.597000 39 81 0 0 0.014410 0 0 HLTF 6596 broad.mit.edu 37 3 148756981 148756981 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:148756981G>A ENST00000310053.5 - 23 2844 c.2651C>T c.(2650-2652)tCc>tTc p.S884F HLTF_ENST00000392912.2_Missense_Mutation_p.S884F|HLTF_ENST00000494055.1_Missense_Mutation_p.S884F|HLTF_ENST00000465259.1_Missense_Mutation_p.S883F NM_003071.3|NM_139048.2 NP_003062.2|NP_620636.1 Q14527 HLTF_HUMAN helicase-like transcription factor 884 Helicase C-terminal. chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) TTGGGCCATGGAACCATCCAA 0.363000 9 15 0 0 0.010729 0 0 PLCH2 9651 broad.mit.edu 37 1 2421228 2421228 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:2421228G>A ENST00000449969.1 + 10 1517 c.1356G>A c.(1354-1356)gaG>gaA p.E452E PLCH2_ENST00000378486.3_Silent_p.E479E|PLCH2_ENST00000378488.3_Silent_p.E479E|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000419816.2_Silent_p.E479E|PLCH2_ENST00000288766.5_Intron O75038 PLCH2_HUMAN phospholipase C, eta 2 479 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) ACATCAGCGAGGATGCGGAGG 0.592000 29 53 0 0 0.003271 0 0 DNAH9 1770 broad.mit.edu 37 17 11592949 11592949 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:11592949C>T ENST00000262442.3 + 20 3878 c.3810C>T c.(3808-3810)tcC>tcT p.S1270S DNAH9_ENST00000454412.2_Silent_p.S1270S NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1270 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 p.S1270*(1) 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) AGATGGAATCCACTATGGCCT 0.488000 35 26 0 0 0.003755 0 0 CSMD2 114784 broad.mit.edu 37 1 34008417 34008417 + Silent SNP G G A rs138523089 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:34008417G>A ENST00000373381.4 - 58 9356 c.9180C>T c.(9178-9180)atC>atT p.I3060I NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3034 Sushi 23. 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) ACTCATAGACGATAGAGCTGG 0.542000 19 30 0 0 0.012319 0 0 XIST 7503 broad.mit.edu 37 X 73072049 73072049 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:73072049G>A ENST00000429829.1 - 0 539 NR_001564.2 GGTTCAGAGGGGAAGGGAATC 0.463000 5 1 0 0 0.000602 0 0 KLHL13 90293 broad.mit.edu 37 X 117043960 117043960 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:117043960G>A ENST00000371876.1 - 4 2938 c.517C>T c.(517-519)Cct>Tct p.P173S KLHL13_ENST00000545703.1_Missense_Mutation_p.P182S|KLHL13_ENST00000262820.3_Missense_Mutation_p.P224S|KLHL13_ENST00000541812.1_Missense_Mutation_p.P208S|KLHL13_ENST00000539496.1_Missense_Mutation_p.P227S|KLHL13_ENST00000540167.1_Missense_Mutation_p.P208S|KLHL13_ENST00000469946.1_Missense_Mutation_p.P173S|KLHL13_ENST00000371882.1_Missense_Mutation_p.P173S|KLHL13_ENST00000371878.1_Missense_Mutation_p.P173S 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 39 16 0 0 0.006230 0 0 FSIP1 161835 broad.mit.edu 37 15 40018827 40018827 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:40018827G>A ENST00000350221.3 - 9 1222 c.1013C>T c.(1012-1014)tCc>tTc p.S338F NM_152597.4 NP_689810.3 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 338 NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 23 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) AGAAAAACTGGAAATTGTAGG 0.393000 9 29 0 0 0.008291 0 0 TRRAP 8295 broad.mit.edu 37 7 98509658 98509658 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:98509658C>T ENST00000359863.4 + 18 2230 c.2021C>T c.(2020-2022)tCc>tTc p.S674F TRRAP_ENST00000446306.3_Missense_Mutation_p.S673F|TRRAP_ENST00000355540.3_Missense_Mutation_p.S674F NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 674 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GTTGCCAATTCCTTCTTGGCA 0.413000 31 80 0 0 0.003271 0 0 CYB5R2 51700 broad.mit.edu 37 11 7686720 7686720 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:7686720G>A ENST00000533558.1 - 9 1272 c.716C>T c.(715-717)cCt>cTt p.P239L CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000299498.6_Missense_Mutation_p.P239L|CYB5R2_ENST00000524790.1_3'UTR Q6BCY4 NB5R2_HUMAN cytochrome b5 reductase 2 239 sterol biosynthetic process membrane|soluble fraction cytochrome-b5 reductase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1) 11 Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTTCGCTGGAGGAGGAAGGTG 0.572000 OREG0020724 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 25 0 0 0.003080 0 0 HYDIN 54768 broad.mit.edu 37 16 70926315 70926315 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:70926315G>A ENST00000393567.2 - 56 9516 c.9366C>T c.(9364-9366)ttC>ttT p.F3122F NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3122 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TTTTTGCATGGAAGAAAACTT 0.463000 11 69 0 0 0.001855 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220386237 220386237 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:220386237G>A ENST00000358951.2 - 4 494 c.378C>T c.(376-378)gtC>gtT p.V126V NM_012414.3 NP_036546.2 Q9H2M9 RBGPR_HUMAN RAB3 GTPase activating protein subunit 2 (non-catalytic) 126 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) ACCCTTCTTCGACATTTAAGG 0.308000 10 24 0 0 0.013537 0 0 SLC38A5 92745 broad.mit.edu 37 X 48320627 48320627 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:48320627G>A ENST00000376876.3 - 9 1468 c.625C>T c.(625-627)Ctt>Ttt p.L209F SLC38A5_ENST00000376875.1_Missense_Mutation_p.L158F|SLC38A5_ENST00000317669.5_Missense_Mutation_p.L209F Q8WUX1 S38A5_HUMAN solute carrier family 38, member 5 209 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1) 19 ACCGAAACAAGGAAAAACAGC 0.552000 3 11 0 0 0.004672 0 0 PCSK1 5122 broad.mit.edu 37 5 95733144 95733144 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:95733144C>T ENST00000311106.3 - 12 1855 c.1618G>A c.(1618-1620)Gaa>Aaa p.E540K CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Missense_Mutation_p.E493K NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 540 cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GTATCCCGTTCTCTTTCAGCC 0.398000 4 19 0 0 0.000602 0 0 FREM1 158326 broad.mit.edu 37 9 14801703 14801703 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:14801703G>A ENST00000380881.4 - 21 4459 c.3644C>T c.(3643-3645)cCt>cTt p.P1215L FREM1_ENST00000380880.3_Missense_Mutation_p.P1214L|FREM1_ENST00000422223.2_Missense_Mutation_p.P1214L Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1214 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TTTCTGGTGAGGGTTGGCTGG 0.468000 18 17 0 0 0.006122 0 0 ACAA2 10449 broad.mit.edu 37 18 47323960 47323960 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:47323960G>A ENST00000285093.10 - 3 663 c.188C>T c.(187-189)tCt>tTt p.S63F RP11-886H22.1_ENST00000590532.2_3'UTR|ACAA2_ENST00000589432.1_Missense_Mutation_p.S8F|ACAA2_ENST00000587994.1_Missense_Mutation_p.S60F NM_006111.2 NP_006102.2 P42765 THIM_HUMAN acetyl-CoA acyltransferase 2 63 anti-apoptosis|cholesterol biosynthetic process acetyl-CoA C-acyltransferase activity|protein binding large_intestine(2)|lung(7)|ovary(1) 10 AGCATCTGAAGAACTCTAGAA 0.373000 8 16 0 0 0.003080 0 0 AADACL2 344752 broad.mit.edu 37 3 151474789 151474789 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:151474789G>A ENST00000356517.3 + 5 722 c.613G>A c.(613-615)Gat>Aat p.D205N RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA NM_207365.3 NP_997248.2 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 205 extracellular region|integral to membrane carboxylesterase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2) 24 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) GGTGCAGAATGATGCTGAAAT 0.318000 10 40 0 0 0.010729 0 0 OR2T3 343173 broad.mit.edu 37 1 248637008 248637008 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:248637008C>T ENST00000359594.2 + 1 382 c.357C>T c.(355-357)ctC>ctT p.L119L NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 119 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 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) AGGTTTTCCTCCTGGCTGCCA 0.562000 6 20 0 0 0.002450 0 0 LYZL6 57151 broad.mit.edu 37 17 34264881 34264881 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:34264881G>A ENST00000585556.1 - 3 513 c.179C>T c.(178-180)tCa>tTa p.S60L LYZL6_ENST00000293274.4_Missense_Mutation_p.S60L|LYZL6_ENST00000394523.3_Missense_Mutation_p.S60L O75951 LYZL6_HUMAN lysozyme-like 6 60 cell wall macromolecule catabolic process extracellular region lysozyme activity breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1) 12 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ATTTATCTTTGATATGTTGAA 0.443000 39 18 0 0 0.006999 0 0 ST6GALNAC3 256435 broad.mit.edu 37 1 76877777 76877777 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:76877777C>T ENST00000328299.3 + 3 446 c.298C>T c.(298-300)Cga>Tga p.R100* ST6GALNAC3_ENST00000464140.1_3'UTR NM_152996.2 NP_694541.2 Q8NDV1 SIA7C_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 100 protein glycosylation integral to Golgi membrane sialyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2) 36 TGAGATAGATCGATCCTCCTG 0.473000 29 41 0 0 0.007291 0 0 VPS13D 55187 broad.mit.edu 37 1 12328876 12328876 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:12328876C>T ENST00000358136.3 + 16 2045 c.1915C>T c.(1915-1917)Ccg>Tcg p.P639S VPS13D_ENST00000356315.4_Missense_Mutation_p.P639S NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 639 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CATATACAATCCGCAGGCCAT 0.423000 41 86 0 0 0.007835 0 0 ROR1 4919 broad.mit.edu 37 1 64643822 64643822 + Nonsense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:64643822G>T ENST00000371079.1 + 9 2473 c.2098G>T c.(2098-2100)Gaa>Taa p.E700* ROR1_ENST00000545203.1_Nonsense_Mutation_p.E151* NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 700 Protein kinase. 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 CAGTAACCAGGAAGTGATTGA 0.458000 25 69 2.79863e-10 3.05953e-10 0.004656 1 0 TDRD6 221400 broad.mit.edu 37 6 46657718 46657718 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:46657718C>T ENST00000544460.1 + 1 2107 c.1853C>T c.(1852-1854)tCc>tTc p.S618F TDRD6_ENST00000316081.6_Missense_Mutation_p.S618F NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 618 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GAGGCAGTTTCCTTTTTTAAA 0.403000 7 28 0 0 0.001984 0 0 RPUSD2 27079 broad.mit.edu 37 15 40866035 40866035 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:40866035C>T ENST00000315616.7 + 3 1251 c.1213C>T c.(1213-1215)Ccc>Tcc p.P405S RPUSD2_ENST00000559271.1_Missense_Mutation_p.P344S NM_152260.1 NP_689473.1 Q8IZ73 RUSD2_HUMAN RNA pseudouridylate synthase domain containing 2 405 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding kidney(4)|lung(4)|skin(3) 11 all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786) CGGCTACATTCCCAAGACAAA 0.577000 8 38 0 0 0.003080 0 0 C7 730 broad.mit.edu 37 5 40955533 40955533 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:40955533G>A ENST00000313164.9 + 10 1497 c.1138G>A c.(1138-1140)Gga>Aga p.G380R NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 380 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) CATCAGAGGGGGAGGTGCAGG 0.423000 29 73 0 0 0.003755 0 0 ZAN 7455 broad.mit.edu 37 7 100349948 100349948 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:100349948C>T ENST00000542585.1 + 0 2368 ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_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) AACCCACCACCCCCACAGAAA 0.517000 8 30 0 0 0.003080 0 0 PRSS8 5652 broad.mit.edu 37 16 31143543 31143543 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:31143543C>T ENST00000317508.6 - 6 1082 c.819G>A c.(817-819)ctG>ctA p.L273L PRSS8_ENST00000568261.1_Silent_p.L219L NM_002773.3 NP_002764.1 Q16651 PRSS8_HUMAN protease, serine, 8 273 Peptidase S1. proteolysis extracellular space|integral to membrane|plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1) 8 AGCTGGAGGCCAGAGTGTACA 0.627000 7 14 0 0 0.004482 0 0 EXTL3 2137 broad.mit.edu 37 8 28574866 28574866 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:28574866C>T ENST00000220562.4 + 3 2192 c.1290C>T c.(1288-1290)ttC>ttT p.F430F EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Silent_p.F46F NM_001440.2 NP_001431.1 O43909 EXTL3_HUMAN exostosin-like glycosyltransferase 3 430 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) TCTCCACCTTCGCCCTCATCA 0.602000 9 22 0 0 0.004482 0 0 KIF15 56992 broad.mit.edu 37 3 44852408 44852408 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:44852408G>A ENST00000326047.4 + 17 2191 c.2042G>A c.(2041-2043)gGa>gAa p.G681E KIF15_ENST00000425755.1_Missense_Mutation_p.G316E NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 681 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) CCTGAAATGGGAAGCTTTGGC 0.383000 28 39 0 0 0.005443 0 0 PRKCG 5582 broad.mit.edu 37 19 54403501 54403501 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:54403501C>T ENST00000263431.3 + 12 1578 c.1296C>T c.(1294-1296)ttC>ttT p.F432F PRKCG_ENST00000540413.1_Silent_p.F432F|PRKCG_ENST00000542049.1_Silent_p.F319F NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 432 Protein kinase. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) GCCTGTATTTCGTGATGGAGT 0.537000 20 31 0 0 0.003330 0 0 DPRX 503834 broad.mit.edu 37 19 54140241 54140241 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:54140241G>A ENST00000376650.1 + 3 626 c.575G>A c.(574-576)tGa>tAa p.*192* NM_001012728.1 NP_001012746.1 A6NFQ7 DPRX_HUMAN divergent-paired related homeobox 0 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) CGAGAGAGATGATAAATACAA 0.443000 32 61 0 0 0.013726 0 0 CAPN13 92291 broad.mit.edu 37 2 30966371 30966371 + Silent SNP G G A rs140029412 by1000genomes TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:30966371G>A ENST00000295055.8 - 13 1499 c.1323C>T c.(1321-1323)ttC>ttT p.F441F CAPN13_ENST00000534090.2_Silent_p.F441F NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 441 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) AGTTGCGGCGGAATTTATTAT 0.458000 29 109 0 0 0.006320 0 0 KIAA0319 9856 broad.mit.edu 37 6 24596513 24596513 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:24596513C>T ENST00000535378.1 - 4 1004 c.362G>A c.(361-363)tGg>tAg p.W121* KIAA0319_ENST00000537886.1_Nonsense_Mutation_p.W130*|KIAA0319_ENST00000378214.3_Nonsense_Mutation_p.W130*|KIAA0319_ENST00000543707.1_Nonsense_Mutation_p.W130*|KIAA0319_ENST00000430948.2_Nonsense_Mutation_p.W85* NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 130 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 TGAGTCCCCCCAGATCCCCGA 0.552000 16 39 0 0 0.004990 0 0 NAIP 4671 broad.mit.edu 37 5 70308365 70308365 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:70308365G>A ENST00000517649.1 - 4 668 c.378C>T c.(376-378)ttC>ttT p.F126F NAIP_ENST00000194097.4_Silent_p.F126F|NAIP_ENST00000508426.2_Silent_p.F126F|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000523981.1_Intron NM_004536.2 NP_004527.2 Q13075 BIRC1_HUMAN NLR family, apoptosis inhibitory protein 126 anti-apoptosis|apoptosis|nervous system development basolateral plasma membrane|cytoplasm caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(1) 1 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) TGTTCAAAAGGAACCCACAAT 0.483000 14 56 0 0 0.003163 0 0 EFCAB6 64800 broad.mit.edu 37 22 43933371 43933371 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:43933371G>A ENST00000262726.7 - 29 4187 c.3934C>T c.(3934-3936)Ccc>Tcc p.P1312S EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.P1160S NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 1312 Interaction with PARK7. 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) CTCTCTATGGGATCACAGTTC 0.542000 9 40 0 0 0.008291 0 0 SYCE1 93426 broad.mit.edu 37 10 135372435 135372435 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:135372435C>T ENST00000368517.3 - 4 247 c.109G>A c.(109-111)Gac>Aac p.D37N SYCE1_ENST00000343131.5_Missense_Mutation_p.D73N|SYCE1_ENST00000432597.2_Missense_Mutation_p.D37N|SPRN_ENST00000541506.1_Intron NM_130784.2 NP_570140.1 Q8N0S2 SYCE1_HUMAN synaptonemal complex central element protein 1 73 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) TCTCCTAGGTCTTTATTGGCT 0.507000 4 17 0 0 0.009096 0 0 CTAGE6 340307 broad.mit.edu 37 7 143453537 143453537 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:143453537C>T ENST00000470691.2 - 1 1252 c.1215G>A c.(1213-1215)gaG>gaA p.E405E NM_178561.4 NP_848656.2 CTAGE family, member 6 Melanoma(164;0.0903) GGTAATTTTCCTCCACTGTTA 0.368000 17 62 0 0 0.004007 0 0 PPP1R14A 94274 broad.mit.edu 37 19 38743536 38743536 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:38743536G>A ENST00000591585.1 - 2 472 c.280C>T c.(280-282)Cag>Tag p.Q94* PPP1R14A_ENST00000347262.4_Intron|PPP1R14A_ENST00000587515.1_Nonsense_Mutation_p.Q24*|PPP1R14A_ENST00000591291.1_Nonsense_Mutation_p.Q94*|PPP1R14A_ENST00000301242.4_Nonsense_Mutation_p.Q94* Q96A00 PP14A_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 14A 94 Inhibitory. regulation of phosphorylation cytoplasm protein binding|protein phosphatase inhibitor activity lung(1) 1 all_cancers(60;9.57e-07) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CCACCTACCTGGATTTTCCGG 0.527000 67 152 0 0 0.014410 0 0 FNDC1 84624 broad.mit.edu 37 6 159653975 159653975 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:159653975C>T ENST00000297267.9 + 11 2631 c.2431C>T c.(2431-2433)Cgg>Tgg p.R811W FNDC1_ENST00000340366.6_Missense_Mutation_p.R748W NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 811 extracellular region p.R811W(1) 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) GCTGCGGGCCCGGCCTGCCTC 0.647000 5 14 0 0 0.001984 0 0 DOCK2 1794 broad.mit.edu 37 5 169477382 169477382 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:169477382G>A ENST00000256935.8 + 41 4274 c.4194G>A c.(4192-4194)gtG>gtA p.V1398V DOCK2_ENST00000520908.1_Silent_p.V890V|DOCK2_ENST00000540750.1_Silent_p.V459V|DOCK2_ENST00000523351.1_3'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1398 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAGATGATGTGAAGAATGCCC 0.562000 12 47 0 0 0.001855 0 0 GRID2 2895 broad.mit.edu 37 4 94137898 94137898 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:94137898G>A ENST00000282020.4 + 6 1057 c.799G>A c.(799-801)Gat>Aat p.D267N GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.D172N NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 267 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) GGAAATAAACGATGTGGACGT 0.378000 22 25 0 0 0.014323 0 0 TENM2 57451 broad.mit.edu 37 5 167489213 167489213 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:167489213G>A ENST00000519204.1 + 6 1213 c.1095G>A c.(1093-1095)ggG>ggA p.G365G TENM2_ENST00000403607.2_Silent_p.G319G|TENM2_ENST00000545108.1_Silent_p.G486G|TENM2_ENST00000520394.1_Silent_p.G254G|TENM2_ENST00000518659.1_Silent_p.G486G teneurin transmembrane protein 2 TCTCCCTCGGGAAGGACGCTC 0.443000 19 43 0 0 0.012319 0 0 TOPORS 10210 broad.mit.edu 37 9 32543665 32543665 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:32543665G>A ENST00000360538.2 - 3 974 c.858C>T c.(856-858)ttC>ttT p.F286F TOPORS_ENST00000379858.1_Silent_p.F221F NM_005802.4 NP_005793.2 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 286 Required for DNA-binding. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) GATTTCTACGGAAAAATTCAG 0.393000 10 33 0 0 0.006214 0 0 HYDIN 54768 broad.mit.edu 37 16 70897082 70897082 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:70897082G>A ENST00000393567.2 - 68 11625 c.11475C>T c.(11473-11475)ttC>ttT p.F3825F NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3825 p.F3776F(1)|p.F3824F(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TAATCACATCGAACCTGCAAA 0.448000 6 24 0 0 0.001168 0 0 OSBPL1A 114876 broad.mit.edu 37 18 21752418 21752418 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:21752418G>A ENST00000319481.3 - 22 2329 c.2123C>T c.(2122-2124)cCc>cTc p.P708L OSBPL1A_ENST00000399443.3_Missense_Mutation_p.P195L|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.P326L NM_080597.3 NP_542164.2 Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A 708 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) ACAGCAGGTGGGATTTGTCCA 0.393000 18 35 0 0 0.007413 0 0 DNAH1 25981 broad.mit.edu 37 3 52429461 52429461 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:52429461C>T ENST00000420323.2 + 69 11367 c.11106C>T c.(11104-11106)gcC>gcT p.A3702A NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3767 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AGCTCTCTGCCATCTCCCTGG 0.622000 13 30 0 0 0.003163 0 0 STON2 85439 broad.mit.edu 37 14 81743923 81743923 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:81743923C>T ENST00000555447.1 - 6 2144 c.1732G>A c.(1732-1734)Gaa>Aaa p.E578K STON2_ENST00000267540.2_Missense_Mutation_p.E578K NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 578 MHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) CCAGAGAATTCATCTCTGACA 0.498000 7 43 0 0 0.001984 0 0 STAT5B 6777 broad.mit.edu 37 17 40384045 40384045 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:40384045A>G ENST00000293328.3 - 2 269 c.101T>C c.(100-102)tTa>tCa p.L34S NM_012448.3 NP_036580.2 P51692 STA5B_HUMAN signal transducer and activator of transcription 5B 34 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) CCACTGGGATAAATAATGCCG 0.428000 27 16 0 0 0.008361 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884334 228884334 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:228884334G>A ENST00000392056.3 - 7 1282 c.1236C>T c.(1234-1236)tcC>tcT p.S412S SPHKAP_ENST00000344657.5_Silent_p.S412S NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 412 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GGGGTAATGTGGACTGAGATT 0.438000 30 51 0 0 0.009535 0 0 CCR2 729230 broad.mit.edu 37 3 46399939 46399939 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:46399939C>T ENST00000292301.4 + 2 1406 c.921C>T c.(919-921)ttC>ttT p.F307F CCR2_ENST00000445132.2_Silent_p.F307F|CCR2_ENST00000400888.2_Silent_p.F307F|CCR2_ENST00000465202.1_3'UTR NM_001123041.2 NP_001116513.2 P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 307 astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity p.F307F(1) breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) TCTATGCCTTCGTTGGGGAGA 0.498000 45 77 0 0 0.014410 0 0 ACAN 176 broad.mit.edu 37 15 89400292 89400292 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:89400292T>C ENST00000439576.2 + 12 4850 c.4476T>C c.(4474-4476)tcT>tcC p.S1492S ACAN_ENST00000352105.7_Silent_p.S1492S|ACAN_ENST00000559004.1_Silent_p.S1492S|ACAN_ENST00000561243.1_Silent_p.S1492S NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1492 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) GGCTTCCTTCTGGAGAGGTTG 0.507000 16 34 0 0 0.004007 0 0 DOCK3 1795 broad.mit.edu 37 3 51251631 51251631 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:51251631G>A ENST00000266037.9 + 14 1228 c.1205G>A c.(1204-1206)gGa>gAa p.G402E NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 402 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TTTAATAGGGGATTGGCAATT 0.423000 11 26 0 0 0.010729 0 0 COL4A4 1286 broad.mit.edu 37 2 227898195 227898195 + Missense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:227898195G>T ENST00000396625.3 - 38 3715 c.3508C>A c.(3508-3510)Ccc>Acc p.P1170T COL4A4_ENST00000329662.7_Missense_Mutation_p.P1170T NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1170 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GATCCGGAGGGACCTGAAAAA 0.542000 OREG0015250 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 31 2.61681e-11 2.8644e-11 0.002450 1 0 CLDN25 644672 broad.mit.edu 37 11 113650814 113650814 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:113650814C>T ENST00000453129.2 + 1 346 c.297C>T c.(295-297)agC>agT p.S99S NM_001101389.1 NP_001094859.1 C9JDP6 CLD25_HUMAN claudin 25 99 integral to membrane|tight junction structural molecule activity large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2) 10 TGCTCTGCAGCTTTGGGTCTG 0.557000 59 104 0 0 0.014410 0 0 OR52J3 119679 broad.mit.edu 37 11 5068330 5068330 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:5068330G>A ENST00000380370.1 + 1 575 c.575G>A c.(574-576)gGa>gAa p.G192E NM_001001916.2 NP_001001916.2 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, member 3 192 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) TTGTCCTGTGGAAACATTCGT 0.433000 26 68 0 0 0.003330 0 0 NDUFV1 4723 broad.mit.edu 37 11 67379641 67379641 + Silent SNP C C A rs145602077 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:67379641C>A ENST00000322776.6 + 9 1366 c.1213C>A c.(1213-1215)Cgg>Agg p.R405R NDUFV1_ENST00000415352.2_Silent_p.R398R|NDUFV1_ENST00000529927.1_Silent_p.R396R|NDUFV1_ENST00000532303.1_Silent_p.R304R NM_001166102.1|NM_007103.3 NP_001159574.1|NP_009034.2 P49821 NDUV1_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa 405 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 16 NADH(DB00157) GGGGGATGCCCGGCCGGCCGA 0.607000 12 93 1.5842e-08 1.72843e-08 0.001855 1 0 OR2T10 127069 broad.mit.edu 37 1 248756344 248756344 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:248756344G>A ENST00000330500.2 - 1 756 c.726C>T c.(724-726)tcC>tcT p.S242S NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 242 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) TAATGTGGGAGGAGCAGGTGG 0.463000 5 22 0 0 0.001168 0 0 FCRL5 83416 broad.mit.edu 37 1 157514310 157514310 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:157514310C>T ENST00000361835.3 - 5 743 c.586G>A c.(586-588)Gcc>Acc p.A196T FCRL5_ENST00000368190.3_Missense_Mutation_p.A196T|FCRL5_ENST00000368191.3_Missense_Mutation_p.A111T|FCRL5_ENST00000368189.3_Missense_Mutation_p.A196T|FCRL5_ENST00000356953.4_Missense_Mutation_p.A196T NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 196 Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) AAGGAGCTGGCTCTCAGCACT 0.547000 31 80 0 0 0.009535 0 0 GRM8 2918 broad.mit.edu 37 7 126086134 126086134 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:126086134G>A ENST00000358373.3 - 10 3286 c.2723C>T c.(2722-2724)tCc>tTc p.S908F GRM8_ENST00000339582.2_Intron|GRM8_ENST00000444921.2_Intron NM_001127323.1 NP_001120795.1 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 0 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) CATCTATTAGGAAGTGCTCCC 0.458000 HNSCC(24;0.065) 33 69 0 0 0.013726 0 0 ACAD9 28976 broad.mit.edu 37 3 128627105 128627105 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:128627105C>T ENST00000308982.7 + 13 1437 c.1356C>T c.(1354-1356)atC>atT p.I452I ACAD9_ENST00000511526.1_3'UTR NM_014049.4 NP_054768.2 Q9H845 ACAD9_HUMAN acyl-CoA dehydrogenase family, member 9 452 mitochondrion acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 30 CTACCAGGATCCAGTAGGTGC 0.592000 25 60 0 0 0.003330 0 0 TRAV12-2 28673 broad.mit.edu 37 14 22356669 22356669 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:22356669C>T ENST00000390437.2 + 0 432 CCACCTACCTCTGTGCCGTGA 0.522000 22 109 0 0 0.003330 0 0 IRF6 3664 broad.mit.edu 37 1 209961934 209961934 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:209961934C>T ENST00000367021.3 - 9 1407 c.1235G>A c.(1234-1236)cGa>cAa p.R412Q IRF6_ENST00000542854.1_Missense_Mutation_p.R317Q NM_006147.3 NP_006138.1 O14896 IRF6_HUMAN interferon regulatory factor 6 412 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) ATCAAAGGATCGTGTGAAATC 0.488000 HNSCC(57;0.16) 9 50 0 0 0.008291 0 0 PLA2R1 22925 broad.mit.edu 37 2 160808060 160808060 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:160808060C>T ENST00000283243.7 - 24 3537 c.3331G>A c.(3331-3333)Gat>Aat p.D1111N PLA2R1_ENST00000392771.1_Missense_Mutation_p.D1111N NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 1111 endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 GGATACATATCAGATGTATTT 0.363000 15 38 0 0 0.004007 0 0 CD48 962 broad.mit.edu 37 1 160654584 160654584 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:160654584C>T ENST00000368045.3 - 2 517 c.478G>A c.(478-480)Gag>Aag p.E160K CD48_ENST00000368046.3_Intron P09326 CD48_HUMAN CD48 molecule 0 Ig-like C2-type 2. blood coagulation|defense response|leukocyte migration integral to plasma membrane|membrane raft protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1) 10 all_cancers(52;2.18e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CTCTCCTCCTCCCCGAGAGTG 0.507000 27 24 0 0 0.003954 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18504852 18504852 + Missense_Mutation SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:18504852A>C ENST00000380548.4 + 2 428 c.89A>C c.(88-90)gAg>gCg p.E30A ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.E30A|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.E30A|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.E30A|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.E30A|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.E30A NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 30 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) CGCTCCGAGGAGGACCGGGAC 0.587000 22 35 0 0 0.003330 0 0 CA9 768 broad.mit.edu 37 9 35680762 35680762 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:35680762C>T ENST00000378357.4 + 10 1354 c.1250C>T c.(1249-1251)gCc>gTc p.A417V CA9_ENST00000493245.1_3'UTR NM_001216.2 NP_001207.2 Q16790 CAH9_HUMAN carbonic anhydrase IX 417 one-carbon metabolic process integral to membrane|microvillus membrane|nucleolus carbonate dehydratase activity|zinc ion binding kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 17 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GACATCCTAGCCCTGGTTTTT 0.557000 9 40 0 0 0.004482 0 0 CADPS2 93664 broad.mit.edu 37 7 122033545 122033545 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:122033545G>A ENST00000334010.7 - 19 3253 c.2832C>T c.(2830-2832)atC>atT p.I944I RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000449022.2_Silent_p.I946I|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000313070.7_Silent_p.I940I|CADPS2_ENST00000412584.2_Silent_p.I940I NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 946 Interaction with DRD2.|MHD1. 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 TTGACTGGGCGATGGAAGACT 0.458000 31 61 0 0 0.009535 0 0 IKBKB 3551 broad.mit.edu 37 8 42162742 42162742 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:42162742C>T ENST00000520810.1 + 6 612 c.426C>T c.(424-426)atC>atT p.I142I IKBKB_ENST00000519735.1_Silent_p.I142I|IKBKB_ENST00000520835.1_Silent_p.I140I|IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000416505.2_Silent_p.I83I|IKBKB_ENST00000522147.1_Intron NM_001556.2 NP_001547.1 O14920 IKKB_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta 142 Protein kinase. anti-apoptosis|innate immune response|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 transcription, DNA-dependent|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 CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) ACAGAATCATCCATCGGGATC 0.498000 11 27 0 0 0.013537 0 0 TTN 7273 broad.mit.edu 37 2 179614846 179614846 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179614846C>T ENST00000360870.5 - 46 12503 c.12281G>A c.(12280-12282)gGa>gAa p.G4094E TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3468 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) TTCTGTGTCTCCAGAGGGAGG 0.428000 16 32 0 0 0.004007 0 0 CWC25 54883 broad.mit.edu 37 17 36977268 36977268 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:36977268G>A ENST00000225428.4 - 2 374 c.77C>T c.(76-78)gCc>gTc p.A26V CWC25_ENST00000536127.1_5'UTR NM_017748.3 NP_060218.1 Q9NXE8 CWC25_HUMAN CWC25 spliceosome-associated protein homolog (S. cerevisiae) 26 central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 14 CTTCTGCTCGGCCTTCCACAC 0.537000 40 28 0 0 0.009718 0 0 OR2T34 127068 broad.mit.edu 37 1 248737702 248737702 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:248737702G>A ENST00000328782.2 - 1 378 c.357C>T c.(355-357)ctC>ctT p.L119L NM_001001821.1 NP_001001821.1 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, member 34 119 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 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) TGGCAGCCAGGAGGAAAACCT 0.567000 18 52 0 0 0.006320 0 0 NBAS 51594 broad.mit.edu 37 2 15427214 15427214 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:15427214G>A ENST00000281513.5 - 42 5146 c.5121C>T c.(5119-5121)ttC>ttT p.F1707F NBAS_ENST00000441750.1_Silent_p.F1587F NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1707 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 CCGTGAAGAGGAACTCCAAAT 0.423000 10 49 0 0 0.008291 0 0 MARCH6 10299 broad.mit.edu 37 5 10426625 10426625 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:10426625C>T ENST00000274140.5 + 24 2629 c.2497C>T c.(2497-2499)Cct>Tct p.P833S MARCH6_ENST00000510792.1_Missense_Mutation_p.P531S|MARCH6_ENST00000503788.1_Missense_Mutation_p.P728S|MARCH6_ENST00000449913.2_Missense_Mutation_p.P785S NM_005885.2 NP_005876.2 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase 833 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3) 54 TGGTGTTGTTCCTTTACTAGG 0.433000 26 62 0 0 0.008361 0 0 MAST2 23139 broad.mit.edu 37 1 46474017 46474017 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:46474017C>T ENST00000361297.2 + 9 1235 c.952C>T c.(952-954)Cat>Tat p.H318Y MAST2_ENST00000372008.1_Missense_Mutation_p.H203Y|MAST2_ENST00000372009.2_Missense_Mutation_p.H318Y NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 318 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) AATGATGAATCATGTTTACAA 0.423000 10 20 0 0 0.006214 0 0 FLG2 388698 broad.mit.edu 37 1 152324797 152324797 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:152324797C>T ENST00000388718.5 - 3 5537 c.5465G>A c.(5464-5466)cGa>cAa p.R1822Q FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1822 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) AGTGTGTCCTCGTGAGTGTGG 0.522000 53 97 0 0 0.014410 0 0 HSPB7 27129 broad.mit.edu 37 1 16343579 16343579 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:16343579C>T ENST00000311890.9 - 2 1149 c.323G>A c.(322-324)cGg>cAg p.R108Q HSPB7_ENST00000375718.4_Missense_Mutation_p.R183Q|HSPB7_ENST00000487046.1_Missense_Mutation_p.R113Q|HSPB7_ENST00000411503.1_Intron|HSPB7_ENST00000406363.2_Missense_Mutation_p.R112Q NM_014424.4 NP_055239.1 Q9UBY9 HSPB7_HUMAN heat shock 27kDa protein family, member 7 (cardiovascular) 108 regulation of heart contraction|response to heat|response to unfolded protein Cajal body protein C-terminus binding breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) CTTCTCAGCCCGCACCTCGAT 0.567000 33 78 0 0 0.012213 0 0 PCED1A 64773 broad.mit.edu 37 20 2816920 2816920 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:2816920G>A ENST00000360652.2 - 7 1384 c.882C>T c.(880-882)ttC>ttT p.F294F PCED1A_ENST00000356872.3_Silent_p.F243F NM_022760.3 NP_073597.2 PC-esterase domain containing 1A GGCTTCCCTGGAATGGATGAT 0.587000 30 69 0 0 0.012213 0 0 CDH13 1012 broad.mit.edu 37 16 83251002 83251002 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:83251002G>A ENST00000566620.1 + 5 826 c.536G>A c.(535-537)gGa>gAa p.G179E CDH13_ENST00000268613.10_Missense_Mutation_p.G226E|CDH13_ENST00000428848.3_Missense_Mutation_p.G140E|CDH13_ENST00000569454.1_3'UTR 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 13 179 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) ACTGGAAAGGGAGTGGATCAA 0.458000 13 32 0 0 0.003163 0 0 CR1 1378 broad.mit.edu 37 1 207782822 207782822 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:207782822G>A ENST00000367049.4 + 37 6084 c.6084G>A c.(6082-6084)tgG>tgA p.W2028* CR1_ENST00000400960.2_Nonsense_Mutation_p.W1578*|CR1_ENST00000367053.1_Nonsense_Mutation_p.W1578*|CR1_ENST00000367052.1_Nonsense_Mutation_p.W1578*|CR1_ENST00000367051.1_Nonsense_Mutation_p.W1578* NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1578 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TTGGTGTTTGGAGCAGCCCTC 0.458000 22 25 0 0 0.010504 0 0 CHD7 55636 broad.mit.edu 37 8 61769330 61769330 + Silent SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:61769330C>A ENST00000423902.2 + 34 7970 c.7491C>A c.(7489-7491)ctC>ctA p.L2497L CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2497 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CAAGGCATCTCCTTAATGGCT 0.502000 36 78 1.30998e-17 1.43785e-17 0.005524 1 0 HOXC12 3228 broad.mit.edu 37 12 54348920 54348920 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:54348920C>T ENST00000243103.3 + 1 303 c.207C>T c.(205-207)ctC>ctT p.L69L NM_173860.1 NP_776272.1 P31275 HXC12_HUMAN homeobox C12 69 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 12 AGCCCTACCTCGGCAGCCCAG 0.701000 10 6 0 0 0.010729 0 0 MLC1 23209 broad.mit.edu 37 22 50500075 50500075 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:50500075G>A ENST00000311597.5 - 12 1677 c.1071C>T c.(1069-1071)agC>agT p.S357S MLC1_ENST00000538737.1_Silent_p.S323S|MLC1_ENST00000535444.1_Silent_p.S278S|MLC1_ENST00000395876.2_Silent_p.S357S|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000450140.2_Silent_p.S305S|MLC1_ENST00000431262.2_Silent_p.S327S NM_015166.3 NP_055981.1 Q15049 MLC1_HUMAN megalencephalic leukoencephalopathy with subcortical cysts 1 357 basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction ion channel activity endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3) 18 all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113) READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216) CCTTCAGGGGGCTCCTGGCCA 0.652000 21 31 0 0 0.012319 0 0 SPEM1 374768 broad.mit.edu 37 17 7324787 7324787 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:7324787C>T ENST00000323675.3 + 3 818 c.793C>T c.(793-795)Cgg>Tgg p.R265W RP11-104H15.7_ENST00000575310.1_RNA NM_199339.2 NP_955371.2 Q8N4L4 SPEM1_HUMAN spermatid maturation 1 265 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 12 Prostate(122;0.173) GTATGATGCCCGGGACATGAG 0.652000 7 13 0 0 0.001984 0 0 KIAA1279 26128 broad.mit.edu 37 10 70775992 70775992 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:70775992C>T ENST00000361983.4 + 7 1788 c.1686C>T c.(1684-1686)ccC>ccT p.P562P NM_015634.3 NP_056449.1 Q96EK5 KBP_HUMAN KIAA1279 562 cell differentiation|mitochondrial transport|nervous system development mitochondrion kinesin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 14 CTGCAGATCCCAAGAAAGAGC 0.423000 7 30 0 0 0.001984 0 0 PCDH15 65217 broad.mit.edu 37 10 55569166 55569166 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:55569166C>T ENST00000395445.1 - 36 5038 c.4644G>A c.(4642-4644)atG>atA p.M1548I PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395446.1_Missense_Mutation_p.M744I|PCDH15_ENST00000395440.1_Missense_Mutation_p.M482I|PCDH15_ENST00000395442.1_Missense_Mutation_p.M413I|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron NM_001142769.1 NP_001136241.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TCTTAAAAATCATGGGGAATA 0.423000 HNSCC(58;0.16) 13 59 0 0 0.001855 0 0 MYLK 4638 broad.mit.edu 37 3 123376184 123376184 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:123376184C>T ENST00000360772.3 - 25 4455 c.4077G>A c.(4075-4077)ggG>ggA p.G1359G MYLK_ENST00000360304.3_Silent_p.G1359G|MYLK_ENST00000354792.5_Silent_p.G159G|MYLK_ENST00000346322.5_Silent_p.G1290G|MYLK_ENST00000475616.1_Silent_p.G1359G|MYLK_ENST00000359169.1_Silent_p.G1359G Q15746 MYLK_HUMAN myosin light chain kinase 1359 Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Fibronectin type-III. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CAGCACTGCCCCCATCATATG 0.567000 7 24 0 0 0.003080 0 0 PDK4 5166 broad.mit.edu 37 7 95222231 95222231 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:95222231G>A ENST00000005178.5 - 4 567 c.370C>T c.(370-372)Cga>Tga p.R124* NM_002612.3 NP_002603.1 Q16654 PDK4_HUMAN pyruvate dehydrogenase kinase, isozyme 4 124 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0151) TGTCTATTTCGAACTTTGATG 0.353000 33 40 0 0 0.013726 0 0 TRPM6 140803 broad.mit.edu 37 9 77417047 77417047 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:77417047T>A ENST00000451710.3 - 16 2013 c.1776A>T c.(1774-1776)gaA>gaT p.E592D TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.E592D|TRPM6_ENST00000449912.2_Missense_Mutation_p.E587D|TRPM6_ENST00000360774.1_Missense_Mutation_p.E592D|TRPM6_ENST00000361255.3_Missense_Mutation_p.E587D|TRPM6_ENST00000376872.3_Intron Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 592 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 ATACATTTTGTTCTTTTGACT 0.368000 7 15 0 0 0.003080 0 0 MAEL 84944 broad.mit.edu 37 1 166958650 166958650 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:166958650G>A ENST00000367872.4 + 1 305 c.61G>A c.(61-63)Gaa>Aaa p.E21K MAEL_ENST00000367870.2_Missense_Mutation_p.E21K NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 21 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 GAAGATCCCCGAACTACGGCG 0.597000 4 10 0 0 0.009096 0 0 MAP1B 4131 broad.mit.edu 37 5 71494054 71494054 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:71494054C>T ENST00000296755.7 + 5 5170 c.4872C>T c.(4870-4872)ttC>ttT p.F1624F NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1624 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CACCAGATTTCTCCCCTAAAA 0.448000 14 45 0 0 0.002450 0 0 MAP1A 4130 broad.mit.edu 37 15 43813704 43813704 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:43813704C>T ENST00000382031.1 + 5 778 c.747C>T c.(745-747)gtC>gtT p.V249V MAP1A_ENST00000399453.1_Silent_p.V11V|MAP1A_ENST00000300231.5_Silent_p.V11V P78559 MAP1A_HUMAN microtubule-associated protein 1A 11 A -> G (in Ref. 5; CAA87104). cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CCGAGTATGTCTCTGAGACTG 0.582000 16 34 0 0 0.004990 0 0 ALPK3 57538 broad.mit.edu 37 15 85406124 85406124 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:85406124G>A ENST00000258888.5 + 10 5161 c.4994G>A c.(4993-4995)aGa>aAa p.R1665K NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1665 Alpha-type protein kinase. heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) CTTGTGGGCAGAAACTACGAC 0.552000 6 63 0 0 0.006214 0 0 ZNF425 155054 broad.mit.edu 37 7 148801242 148801242 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:148801242C>T ENST00000378061.2 - 4 1853 c.1721G>A c.(1720-1722)cGg>cAg p.R574Q NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 574 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CCTGTGCATCCGCTGGTGGAA 0.602000 8 29 0 0 0.006214 0 0 SNHG14 104472715 broad.mit.edu 37 15 25479454 25479454 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:25479454C>T ENST00000453082.2 + 0 1891 SNORD115-35_ENST00000365122.1_RNA NR_003343.1 AAATCATGCTCAATAGGATTA 0.502000 45 106 0 0 0.014410 0 0 ANGPT1 284 broad.mit.edu 37 8 108306176 108306176 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:108306176C>T ENST00000520734.1 - 5 711 c.426G>A c.(424-426)aaG>aaA p.K142K ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Silent_p.K141K Q15389 ANGP1_HUMAN angiopoietin 1 342 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) TTTTATATTCCTTCCAGCCTC 0.363000 22 46 0 0 0.014323 0 0 IL12RB1 3594 broad.mit.edu 37 19 18177429 18177429 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:18177429G>A ENST00000600835.1 - 13 1709 c.1406C>T c.(1405-1407)tCc>tTc p.S469F IL12RB1_ENST00000593993.1_Missense_Mutation_p.S469F|IL12RB1_ENST00000430026.2_Missense_Mutation_p.S469F P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 469 Fibronectin type-III 5. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma 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 interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 GCTCAGCAGGGATGGTGCCCA 0.567000 50 79 0 0 0.014410 0 0 STYK1 55359 broad.mit.edu 37 12 10783853 10783853 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:10783853C>T ENST00000075503.3 - 5 762 c.242G>A c.(241-243)gGa>gAa p.G81E NM_018423.2 NP_060893.2 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 81 integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 26 AGCCACATTTCCTCCATGTCC 0.557000 HNSCC(73;0.22) 39 27 0 0 0.006230 0 0 TRIM29 23650 broad.mit.edu 37 11 119998247 119998247 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:119998247C>T ENST00000341846.5 - 3 1352 c.931G>A c.(931-933)Gag>Aag p.E311K TRIM29_ENST00000529044.1_Missense_Mutation_p.E50K|TRIM29_ENST00000541857.1_Missense_Mutation_p.E44K NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 311 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) AAGTTCTGCTCCAGGATGGCC 0.567000 14 17 0 0 0.002450 0 0 RAET1K 646024 broad.mit.edu 37 6 150322216 150322216 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:150322216C>T ENST00000533735.1 - 0 660 NR_024045.1 TCTGCCGTGTCCGTGGGCTTC 0.512000 13 26 0 0 0.001855 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764749 77764749 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:77764749G>A ENST00000521891.2 + 10 6040 c.5592G>A c.(5590-5592)aaG>aaA p.K1864K ZFHX4_ENST00000518282.1_Silent_p.K1838K|ZFHX4_ENST00000050961.6_Silent_p.K1819K|ZFHX4_ENST00000455469.2_Silent_p.K1819K NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1819 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) TTTCTGAAAAGCCAGAAAAAC 0.398000 HNSCC(33;0.089) 3 7 0 0 0.004672 0 0 AGMAT 79814 broad.mit.edu 37 1 15905500 15905500 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:15905500C>T ENST00000375826.3 - 4 716 c.574G>A c.(574-576)Gac>Aac p.D192N DNAJC16_ENST00000483270.1_Intron NM_024758.4 NP_079034.3 Q9BSE5 SPEB_HUMAN agmatine ureohydrolase (agmatinase) 192 putrescine biosynthetic process|spermidine biosynthetic process mitochondrion agmatinase activity|metal ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1) 12 Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649) AGGGCCTTGTCGGTCGTGTCC 0.647000 17 19 0 0 0.007413 0 0 SLC1A4 6509 broad.mit.edu 37 2 65217269 65217269 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:65217269C>T ENST00000234256.3 + 1 735 c.492C>T c.(490-492)ccC>ccT p.P164P SLC1A4_ENST00000531327.1_Intron|SLC1A4_ENST00000493121.1_Intron NM_003038.4 NP_003029.2 P43007 SATT_HUMAN solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 164 cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic intermediate filament|melanosome chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1) 13 L-Alanine(DB00160) CTCCTGTCCCCAAAGAGACGG 0.637000 5 13 0 0 0.001168 0 0 CYP4X1 260293 broad.mit.edu 37 1 47501741 47501741 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:47501741C>T ENST00000371901.3 + 6 923 c.673C>T c.(673-675)Cac>Tac p.H225Y CYP4X1_ENST00000538609.1_Missense_Mutation_p.H224Y NM_178033.1 NP_828847.1 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, polypeptide 1 225 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 AATCATATTTCACCGCTTGTA 0.388000 41 97 0 0 0.007835 0 0 COL18A1 80781 broad.mit.edu 37 21 46893817 46893817 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr21:46893817C>T ENST00000359759.4 + 3 1926 c.1905C>T c.(1903-1905)atC>atT p.I635I COL18A1_ENST00000400337.2_Silent_p.I220I|COL18A1_ENST00000355480.5_Silent_p.I400I P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 635 TSP N-terminal. cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) AGGGGGTGATCGCTGAGCTGA 0.637000 4 3 0 0 0.000602 0 0 HYDIN 54768 broad.mit.edu 37 16 71054220 71054220 + Splice_Site SNP T T G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:71054220T>G ENST00000393567.2 - 22 3337 c.3186_splice c.e22-1 p.K1063_splice HYDIN_ENST00000448089.2_Splice_Site_p.K1015_splice NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1063 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CTGTTAGGTTTCTGCAAAAAC 0.388000 9 16 0 0 0.008291 0 0 CATSPERD 257062 broad.mit.edu 37 19 5772804 5772804 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:5772804G>A ENST00000381624.3 + 20 1830 c.1769G>A c.(1768-1770)cGa>cAa p.R590Q CATSPERD_ENST00000309164.7_3'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 590 integral to membrane CCTAGGTGGCGAAAAGACAGT 0.612000 18 79 0 0 0.003330 0 0 C10orf53 282966 broad.mit.edu 37 10 50916662 50916662 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:50916662G>A ENST00000374112.3 + 3 485 c.473G>A c.(472-474)tGa>tAa p.*158* C10orf53_ENST00000535836.1_Silent_p.*158* NM_182554.2 NP_872360.2 Q8N6V4 CJ053_HUMAN chromosome 10 open reading frame 53 0 endometrium(1)|lung(6) 7 all_neural(218;0.107) cagccctactgaaatcgacag 0.468000 13 52 0 0 0.002450 0 0 NAALAD2 10003 broad.mit.edu 37 11 89903266 89903266 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:89903266C>T ENST00000534061.1 + 13 1602 c.1372C>T c.(1372-1374)Ccc>Tcc p.P458S NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.P425S NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 458 NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TGACTGTACTCCCCTTCTTTA 0.294000 11 94 0 0 0.002450 0 0 RIMS2 9699 broad.mit.edu 37 8 105257166 105257166 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:105257166G>A ENST00000507740.1 + 18 3035 c.2799G>A c.(2797-2799)agG>agA p.R933R RIMS2_ENST00000436393.2_Silent_p.R1137R|RIMS2_ENST00000262231.10_Silent_p.R958R|RIMS2_ENST00000339750.2_Silent_p.R55R|RIMS2_ENST00000406091.3_Silent_p.R1119R NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1181 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AAAAACTAAGGAGCACTGTCC 0.448000 HNSCC(12;0.0054) 40 70 0 0 0.006999 0 0 EVL 51466 broad.mit.edu 37 14 100603959 100603959 + Missense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:100603959C>A ENST00000544450.2 + 10 1304 c.1021C>A c.(1021-1023)Cct>Act p.P341T EVL_ENST00000402714.2_Missense_Mutation_p.P335T|EVL_ENST00000392920.3_Missense_Mutation_p.P337T Q9UI08 EVL_HUMAN Enah/Vasp-like 335 EVH2. actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis cytoskeleton|cytosol|focal adhesion|lamellipodium actin binding|profilin binding|SH3 domain binding p.P337A(1) cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2) 14 Melanoma(154;0.152) GGTGGAGAAGCCTGTGTCCTC 0.612000 25 23 9.57634e-11 1.04767e-10 0.003330 1 0 CDK5RAP3 80279 broad.mit.edu 37 17 46052592 46052592 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:46052592C>T ENST00000536708.2 + 6 586 c.477C>T c.(475-477)gcC>gcT p.A159A CDK5RAP3_ENST00000338399.4_Silent_p.A134A NM_001278197.1 NP_001265126.1 Q96JB5 CK5P3_HUMAN CDK5 regulatory subunit associated protein 3 134 brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation neuronal Cdc2-like kinase binding NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 18 AGCAGATTGCCAAGTGCCAGC 0.562000 56 33 0 0 0.014410 0 0 SPAM1 6677 broad.mit.edu 37 7 123594434 123594434 + Silent SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:123594434T>A ENST00000340011.5 + 3 1167 c.810T>A c.(808-810)tcT>tcA p.S270S SPAM1_ENST00000223028.7_Silent_p.S270S|SPAM1_ENST00000460182.1_Silent_p.S270S|SPAM1_ENST00000402183.2_Silent_p.S270S|SPAM1_ENST00000439500.1_Silent_p.S270S NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 270 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) CTCAGCAGTCTCCTGTAGCTG 0.413000 24 47 0 0 0.005443 0 0 SLC26A7 115111 broad.mit.edu 37 8 92364064 92364064 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:92364064C>T ENST00000276609.3 + 10 1406 c.1167C>T c.(1165-1167)ttC>ttT p.F389F SLC26A7_ENST00000523719.1_Silent_p.F389F|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000309536.2_Silent_p.F389F NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 389 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) CTTGCATTTTCGTCCTTATAG 0.353000 29 74 0 0 0.003271 0 0 TCTEX1D1 200132 broad.mit.edu 37 1 67243089 67243089 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:67243089T>C ENST00000282670.2 + 5 620 c.492T>C c.(490-492)aaT>aaC p.N164N NM_152665.2 NP_689878.2 Q8N7M0 TC1D1_HUMAN Tctex1 domain containing 1 164 large_intestine(2)|lung(10)|skin(1) 13 TTTTCAGAAATTCTTCTCTCT 0.378000 40 76 0 0 0.009718 0 0 GPR183 1880 broad.mit.edu 37 13 99947367 99947367 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:99947367C>T ENST00000376414.4 - 2 1116 c.1033G>A c.(1033-1035)Gaa>Aaa p.E345K UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron NM_004951.4 NP_004942.1 P32249 GP183_HUMAN G protein-coupled receptor 183 345 humoral immune response|mature B cell differentiation involved in immune response integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 23 TCTGTCATTTCACGTGAATTT 0.378000 13 35 0 0 0.002450 0 0 IL21R 50615 broad.mit.edu 37 16 27441437 27441437 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:27441437G>A ENST00000337929.3 + 2 518 c.45G>A c.(43-45)caG>caA p.Q15Q IL21R_ENST00000395755.1_Silent_p.Q15Q|IL21R_ENST00000395754.4_Silent_p.Q15Q|IL21R_ENST00000564089.1_Silent_p.Q15Q NM_181078.2 NP_851564.1 Q9HBE5 IL21R_HUMAN interleukin 21 receptor 15 natural killer cell activation integral to membrane interleukin-21 receptor activity breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 TGCTGCTCCAGGGAGGTAAGT 0.687000 T BCL6 NHL 14 17 0 0 0.006122 0 0 ZNF699 374879 broad.mit.edu 37 19 9406742 9406742 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9406742G>A ENST00000591998.1 - 6 1566 c.1338C>T c.(1336-1338)ccC>ccT p.P446P ZNF699_ENST00000308650.3_Silent_p.P446P Q32M78 ZN699_HUMAN zinc finger protein 699 446 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TACATTCATAGGGTTTCTCTC 0.423000 11 29 0 0 0.010729 0 0 DNAH5 1767 broad.mit.edu 37 5 13719031 13719031 + Silent SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:13719031A>T ENST00000265104.4 - 72 12563 c.12459T>A c.(12457-12459)ccT>ccA p.P4153P NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4153 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) GTCCTTGTGGAGGATCGTTGG 0.448000 Kartagener syndrome 23 38 0 0 0.003954 0 0 ZNF833P 401898 broad.mit.edu 37 19 11762578 11762578 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:11762578C>T ENST00000344893.3 + 0 590 NR_028594.1 endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 5 GGGGTAAAACCATGTGAAAGC 0.443000 3 19 0 0 0.009096 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71276849 71276849 + Silent SNP G G A rs36179995 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:71276849G>A ENST00000398531.1 + 1 241 c.216G>A c.(214-216)ggG>ggA p.G72G KRTAP5-10_ENST00000376536.4_Silent_p.G72G NM_001012710.1 NP_001012728.1 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 72 7 X 4 AA repeats of C-C-X-P. keratin filament endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 GCTCCAAGGGGGACTGTGGCT 0.677000 65 93 0 0 0.014410 0 0 UNC13C 440279 broad.mit.edu 37 15 54914527 54914527 + Missense_Mutation SNP C C T rs141439711 by1000genomes TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:54914527C>T ENST00000545554.1 + 30 6109 c.6109C>T c.(6109-6111)Cgt>Tgt p.R2037C UNC13C_ENST00000260323.11_Missense_Mutation_p.R2037C|UNC13C_ENST00000537900.1_Missense_Mutation_p.R2035C|UNC13C_ENST00000539562.2_5'UTR Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 2037 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ATTTTCAGGTCGTTCCTCCAA 0.398000 20 32 0 0 0.002780 0 0 GPR101 83550 broad.mit.edu 37 X 136112786 136112786 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:136112786C>T ENST00000298110.1 - 1 1047 c.1048G>A c.(1048-1050)Gaa>Aaa p.E350K NM_054021.1 NP_473362.1 Q96P66 GP101_HUMAN G protein-coupled receptor 101 350 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) ATGTCATCTTCACCCAAGTCA 0.532000 75 39 0 0 0.014410 0 0 ATP12A 479 broad.mit.edu 37 13 25272843 25272843 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:25272843G>A ENST00000218548.6 + 12 1911 c.1578G>A c.(1576-1578)atG>atA p.M526I ATP12A_ENST00000381946.3_Missense_Mutation_p.M520I NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 520 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GCTTCCTCATGGTGATGAAGG 0.552000 7 27 0 0 0.001984 0 0 EPHA6 285220 broad.mit.edu 37 3 96706498 96706498 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:96706498C>T ENST00000389672.5 + 3 813 c.775C>T c.(775-777)Cgc>Tgc p.R259C EPHA6_ENST00000542517.1_Missense_Mutation_p.R165C|EPHA6_ENST00000470610.2_Missense_Mutation_p.R259C NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 164 integral to plasma membrane ATP binding|ephrin receptor activity p.R165S(2)|p.R259S(1) 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 TTTGGGTGATCGCATCCTCAA 0.443000 69 140 0 0 0.014410 0 0 DNAH5 1767 broad.mit.edu 37 5 13692125 13692125 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:13692125G>A ENST00000265104.4 - 79 13947 c.13843C>T c.(13843-13845)Cgt>Tgt p.R4615C NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4615 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) GCAACCCCACGGAGCACCCAG 0.483000 Kartagener syndrome 12 38 0 0 0.010729 0 0 CCDC141 285025 broad.mit.edu 37 2 179701784 179701784 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179701784G>A ENST00000420890.2 - 23 4279 c.4162C>T c.(4162-4164)Cct>Tct p.P1388S CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.P813S NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 813 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TCTTCTCGAGGAACCATTTGC 0.498000 14 31 0 0 0.002450 0 0 BTLA 151888 broad.mit.edu 37 3 112190185 112190185 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:112190185C>T ENST00000334529.5 - 3 623 c.421G>A c.(421-423)Gaa>Aaa p.E141K BTLA_ENST00000383680.4_Intron NM_181780.3 NP_861445.3 Q7Z6A9 BTLA_HUMAN B and T lymphocyte associated 141 T cell costimulation receptor activity breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1) 11 Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361) GAGGGTCGTTCTGAGGCACTT 0.468000 23 40 0 0 0.006320 0 0 TSSK4 283629 broad.mit.edu 37 14 24676380 24676380 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:24676380G>A ENST00000339917.5 + 3 703 c.499G>A c.(499-501)Gac>Aac p.D167N TM9SF1_ENST00000556387.1_Intron|TSSK4_ENST00000428351.2_Intron|TM9SF1_ENST00000530611.1_Intron|TSSK4_ENST00000556621.1_Missense_Mutation_p.D81N|TSSK4_ENST00000287913.6_Missense_Mutation_p.D157N NM_001184739.1|NM_174944.3 NP_001171668.1|NP_777604.2 Q6SA08 TSSK4_HUMAN testis-specific serine kinase 4 157 Protein kinase. cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2) 8 GBM - Glioblastoma multiforme(265;0.018) CCTGTTGCTGGACAAGTGGGA 0.522000 56 69 0 0 0.014410 0 0 DAB2 1601 broad.mit.edu 37 5 39376948 39376948 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:39376948C>T ENST00000545653.1 - 11 2408 c.1878G>A c.(1876-1878)gaG>gaA p.E626E DAB2_ENST00000509337.1_Silent_p.E626E|DAB2_ENST00000320816.6_Silent_p.E647E|DAB2_ENST00000339788.6_Silent_p.E429E NM_001244871.1 NP_001231800.1 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 647 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) CATCCTTGATCTCTTTATCCC 0.552000 OREG0016586 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 39 0 0 0.008291 0 0 SORL1 6653 broad.mit.edu 37 11 121393342 121393342 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:121393342C>T ENST00000260197.7 + 10 1581 c.1452C>T c.(1450-1452)ctC>ctT p.L484L SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 484 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TCAGTCAGCTCCTCAACCTCC 0.552000 40 67 0 0 0.011902 0 0 UNC5D 137970 broad.mit.edu 37 8 35606087 35606087 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:35606087C>T ENST00000287272.2 + 11 1622 c.1602C>T c.(1600-1602)gtC>gtT p.V534V UNC5D_ENST00000404895.2_Silent_p.V603V|UNC5D_ENST00000449677.1_Silent_p.V179V|UNC5D_ENST00000453357.2_Silent_p.V598V|UNC5D_ENST00000416672.1_Silent_p.V608V|UNC5D_ENST00000420357.1_Silent_p.V536V Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 603 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GTCCTGAAGTCACCTGTGGTC 0.478000 21 58 0 0 0.003330 0 0 SLC1A3 6507 broad.mit.edu 37 5 36680625 36680625 + Missense_Mutation SNP T T G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:36680625T>G ENST00000265113.4 + 8 1699 c.1223T>G c.(1222-1224)tTg>tGg p.L408W CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Missense_Mutation_p.L408W NM_004172.4 NP_004163.3 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 3 408 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) TATGAGGCTTTGGCTGCCATT 0.458000 12 29 0 0 0.001855 0 0 PRLR 5618 broad.mit.edu 37 5 35066042 35066042 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:35066042G>A ENST00000382002.5 - 10 1444 c.1018C>T c.(1018-1020)Ccc>Tcc p.P340S PRLR_ENST00000310101.5_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.P239S|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.P239S NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 340 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) AGGTATGTGGGTTTCATACCT 0.498000 17 32 0 0 0.008871 0 0 MYO18B 84700 broad.mit.edu 37 22 26164826 26164826 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:26164826G>A ENST00000335473.7 + 4 1193 c.943G>A c.(943-945)Ggg>Agg p.G315R MYO18B_ENST00000536101.1_Missense_Mutation_p.G315R|MYO18B_ENST00000407587.2_Missense_Mutation_p.G315R NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 315 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CCAAATCCCTGGGAGAAAGTG 0.532000 5 13 0 0 0.001168 0 0 LAMB3 3914 broad.mit.edu 37 1 209799120 209799120 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:209799120C>T ENST00000391911.1 - 13 2238 c.1849G>A c.(1849-1851)Gac>Aac p.D617N LAMB3_ENST00000356082.4_Missense_Mutation_p.D617N|LAMB3_ENST00000367030.3_Missense_Mutation_p.D617N NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 617 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) AGGCCACGGTCCTCCAGCCCA 0.622000 28 43 0 0 0.003271 0 0 CYP2B7P 1556 broad.mit.edu 37 19 41447372 41447372 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:41447372G>A ENST00000599198.1 + 0 871 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 GCTCCACATGGAAAAAGTGGG 0.567000 17 39 0 0 0.004007 0 0 UGT2B7 7364 broad.mit.edu 37 4 69962950 69962950 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:69962950G>A ENST00000305231.7 + 1 758 c.712G>A c.(712-714)Gaa>Aaa p.E238K UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.E238K NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 238 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GTTTTATAGTGAAGTTCTAGG 0.328000 12 27 0 0 0.001855 0 0 PCDHA5 56143 broad.mit.edu 37 5 140201466 140201466 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140201466G>A ENST00000529859.1 + 1 106 c.106G>A c.(106-108)Gag>Aag p.E36K PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.E36K|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.E36K|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCGATCCCGGAGGAAGCCAA 0.652000 16 45 0 0 0.004007 0 0 TEX15 56154 broad.mit.edu 37 8 30695200 30695200 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:30695200G>A ENST00000256246.2 - 3 7525 c.7451C>T c.(7450-7452)tCc>tTc p.S2484F NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2484 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) GGGATCTGGGGAATTTTTAAG 0.413000 23 48 0 0 0.003330 0 0 PACSIN1 29993 broad.mit.edu 37 6 34499443 34499443 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:34499443C>T ENST00000538621.1 + 9 1349 c.1104C>T c.(1102-1104)ccC>ccT p.P368P PACSIN1_ENST00000374043.2_Silent_p.P326P|PACSIN1_ENST00000244458.2_Silent_p.P368P NM_001199583.1 NP_001186512.1 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in neurons 1 368 endocytosis protein kinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 13 GTGGGAACCCCTTTGGGGGCA 0.632000 18 140 0 0 0.012319 0 0 POTEE 445582 broad.mit.edu 37 2 132021798 132021798 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:132021798G>A ENST00000356920.5 + 15 2864 c.2770G>A c.(2770-2772)Gag>Aag p.E924K PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 924 Actin-like. ATP binding CCTGGACTTCGAGCAGGAGAT 0.602000 27 148 0 0 0.007291 0 0 HRH1 3269 broad.mit.edu 37 3 11302062 11302062 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:11302062G>A ENST00000397056.1 + 3 1530 c.1339G>A c.(1339-1341)Gaa>Aaa p.E447K HRH1_ENST00000438284.2_Missense_Mutation_p.E447K|HRH1_ENST00000431010.2_Missense_Mutation_p.E447K NM_000861.3|NM_001098211.1 NP_000852.1|NP_001091681.1 P35367 HRH1_HUMAN histamine receptor H1 447 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) CTGTTGCAATGAACATTTGCA 0.458000 29 218 0 0 0.010818 0 0 SARDH 1757 broad.mit.edu 37 9 136599120 136599120 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:136599120G>A ENST00000371872.4 - 2 433 c.176C>T c.(175-177)cCa>cTa p.P59L SARDH_ENST00000298628.5_Missense_Mutation_p.P59L|SARDH_ENST00000422262.2_Intron|SARDH_ENST00000371867.1_5'UTR|SARDH_ENST00000439388.1_Missense_Mutation_p.P59L NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 59 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GGGCCGGCTTGGGCCTTGGGC 0.667000 9 30 0 0 0.013537 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18807949 18807949 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:18807949C>T ENST00000400664.1 + 1 526 c.474C>T c.(472-474)ttC>ttT p.F158F NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 158 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CTCCCCATTTCCCCCGCTTGG 0.647000 16 33 0 0 0.006122 0 0 KEL 3792 broad.mit.edu 37 7 142650977 142650977 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:142650977G>A ENST00000355265.2 - 9 1465 c.991C>T c.(991-993)Cct>Tct p.P331S KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 331 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GACTGAGAAGGGCTCAGGGAC 0.542000 46 87 0 0 0.014410 0 0 SCARA3 51435 broad.mit.edu 37 8 27516524 27516524 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:27516524C>T ENST00000301904.3 + 5 857 c.837C>T c.(835-837)atC>atT p.I279I SCARA3_ENST00000337221.4_Silent_p.I279I NM_016240.2 NP_057324.2 Q6AZY7 SCAR3_HUMAN scavenger receptor class A, member 3 279 response to oxidative stress|UV protection collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane scavenger receptor activity breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 9 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148) TCAAGAACATCCAGGCCACCC 0.602000 12 23 0 0 0.010729 0 0 MIPOL1 145282 broad.mit.edu 37 14 37739697 37739697 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:37739697G>A ENST00000327441.7 + 7 926 c.460G>A c.(460-462)Gaa>Aaa p.E154K MIPOL1_ENST00000396294.2_Missense_Mutation_p.E154K|MIPOL1_ENST00000537471.1_Missense_Mutation_p.E154K|MIPOL1_ENST00000536774.1_Intron|MIPOL1_ENST00000539174.2_3'UTR|MIPOL1_ENST00000539062.2_Missense_Mutation_p.E123K|MIPOL1_ENST00000556451.1_Missense_Mutation_p.E123K|MIPOL1_ENST00000545536.1_Missense_Mutation_p.E123K NM_001195296.1|NM_001195297.1|NM_138731.6 NP_001182225.1|NP_001182226.1|NP_620059.1 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 154 breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) CCAAGAGAAAGAAACAGAAGC 0.338000 15 18 0 0 0.003163 0 0 C1QTNF7 114905 broad.mit.edu 37 4 15444102 15444102 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:15444102G>A ENST00000295297.4 + 3 829 c.570G>A c.(568-570)ggG>ggA p.G190G C1QTNF7_ENST00000444304.2_Silent_p.G183G|C1QTNF7_ENST00000429690.1_Silent_p.G183G NM_001135170.1 NP_001128642.1 Q9BXJ2 C1QT7_HUMAN C1q and tumor necrosis factor related protein 7 183 C1q. collagen endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 16 CTGCCACAGGGAAGTTCATCT 0.438000 84 50 0 0 0.014410 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140750859 140750859 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140750859G>A ENST00000576222.1 + 1 1029 c.898G>A c.(898-900)Gaa>Aaa p.E300K PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_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) TAAAACGGGGGAACTCACCAC 0.443000 28 90 0 0 0.008361 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767262 77767262 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:77767262G>A ENST00000521891.2 + 10 8553 c.8105G>A c.(8104-8106)gGa>gAa p.G2702E ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2676E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2657E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2657E NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2657 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) TGGAATGAAGGAAAGCAGGCA 0.488000 HNSCC(33;0.089) 10 25 0 0 0.006214 0 0 PHF21B 112885 broad.mit.edu 37 22 45283928 45283928 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:45283928G>A ENST00000313237.5 - 10 1262 c.1112C>T c.(1111-1113)cCg>cTg p.P371L PHF21B_ENST00000396103.3_Missense_Mutation_p.P329L|PHF21B_ENST00000447824.3_3'UTR|PHF21B_ENST00000404079.2_Missense_Mutation_p.P317L|PHF21B_ENST00000403565.1_Missense_Mutation_p.P167L NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B 371 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) GTAGGCCCCCGGGCAGGTGCC 0.677000 6 7 0 0 0.001984 0 0 GRIK2 2898 broad.mit.edu 37 6 102483362 102483362 + Missense_Mutation SNP T T G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:102483362T>G ENST00000369138.1 + 14 2722 c.2232T>G c.(2230-2232)ttT>ttG p.F744L GRIK2_ENST00000421544.1_Missense_Mutation_p.F744L|GRIK2_ENST00000413795.1_Missense_Mutation_p.F744L|GRIK2_ENST00000318991.6_Missense_Mutation_p.F744L|GRIK2_ENST00000369134.4_Missense_Mutation_p.F695L|GRIK2_ENST00000369137.3_Missense_Mutation_p.F668L NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 744 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) CCATCGAGTTTGTTACCCAGC 0.473000 48 153 0 0 0.014410 0 0 MKRN3 7681 broad.mit.edu 37 15 23811028 23811028 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:23811028C>T ENST00000314520.3 + 1 575 c.99C>T c.(97-99)ccC>ccT p.P33P MKRN3_ENST00000568252.1_Silent_p.P33P|MKRN3_ENST00000564592.1_Silent_p.P33P NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 33 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding p.P33P(1) breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) CGGACCTTCCCGTCTGTGAGC 0.682000 9 23 0 0 0.004482 0 0 KIF5A 3798 broad.mit.edu 37 12 57969034 57969034 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:57969034C>T ENST00000455537.2 + 16 2158 c.1884C>T c.(1882-1884)tcC>tcT p.S628S KIF5A_ENST00000286452.5_Silent_p.S539S NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 628 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 AGCTCTCATCCTGCCAGCTCC 0.542000 17 9 0 0 0.006122 0 0 PLB1 151056 broad.mit.edu 37 2 28761181 28761181 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:28761181C>T ENST00000422425.2 + 10 628 c.584C>T c.(583-585)tCa>tTa p.S195L PLB1_ENST00000327757.5_Intron NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 185 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) GTTCTCCTCTCACAGAATGGG 0.657000 7 18 0 0 0.013537 0 0 TMPRSS11A 339967 broad.mit.edu 37 4 68795677 68795677 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:68795677C>T ENST00000508048.1 - 5 434 c.399G>A c.(397-399)aaG>aaA p.K133K TMPRSS11A_ENST00000396188.2_Silent_p.K134K|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000334830.7_Silent_p.K137K Q6ZMR5 TM11A_HUMAN transmembrane protease, serine 11A 137 SEA. cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 29 TTTGGATTTTCTTCTCTCTTA 0.403000 10 42 0 0 0.013537 0 0 MUC16 94025 broad.mit.edu 37 19 9072091 9072091 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9072091G>A ENST00000397910.4 - 3 15558 c.15355C>T c.(15355-15357)Cct>Tct p.P5119S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5121 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 TTTATAGAAGGAAAAATTTCC 0.453000 30 68 0 0 0.006320 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125879750 125879750 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:125879750C>T ENST00000393434.2 - 2 422 c.73G>A c.(73-75)Gaa>Aaa p.E25K ALDH1L1_ENST00000452905.2_Missense_Mutation_p.E25K|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.E25K|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.E25K|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.E35K|ALDH1L1_ENST00000455064.2_5'UTR NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 25 GART. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) CCCACCACTTCGTGGCCCTCC 0.587000 25 54 0 0 0.005443 0 0 DCC 1630 broad.mit.edu 37 18 51053082 51053082 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:51053082C>T ENST00000442544.2 + 28 4823 c.4207C>T c.(4207-4209)Cct>Tct p.P1403S DCC_ENST00000581580.1_Missense_Mutation_p.P1036S|RP11-671P2.1_ENST00000582064.1_RNA NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1403 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) GCCAACAGCCCCTGAAGTGTC 0.502000 13 38 0 0 0.001855 0 0 HDGFRP3 50810 broad.mit.edu 37 15 83826717 83826717 + Nonsense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:83826717C>A ENST00000299633.4 - 3 841 c.238G>T c.(238-240)Gga>Tga p.G80* NM_016073.3 NP_057157.1 Q9Y3E1 HDGR3_HUMAN 80 cell proliferation nucleus growth factor activity kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 TCGTTAAATCCTTTCCGTTTG 0.368000 9 26 2.17888e-05 2.36395e-05 0.006214 1 0 SKIL 6498 broad.mit.edu 37 3 170108192 170108192 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:170108192T>C ENST00000458537.3 + 4 2320 c.1611T>C c.(1609-1611)acT>acC p.T537T SKIL_ENST00000413427.2_Silent_p.T491T|SKIL_ENST00000259119.4_Silent_p.T537T|SKIL_ENST00000426052.2_Silent_p.T517T NM_001145097.2|NM_001248008.1|NM_005414.4 NP_001138569.1|NP_001234937.1|NP_005405.2 P12757 SKIL_HUMAN SKI-like oncogene 537 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 25 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) TAATGAGAACTTATTTAAAAC 0.343000 23 20 0 0 0.003954 0 0 WDR60 55112 broad.mit.edu 37 7 158718935 158718935 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:158718935C>T ENST00000407559.3 + 18 2473 c.2315C>T c.(2314-2316)tCa>tTa p.S772L NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 772 NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) GAACCTATCTCAACGTCCGTC 0.433000 8 10 0 0 0.008291 0 0 FAT2 2196 broad.mit.edu 37 5 150889622 150889622 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:150889622C>T ENST00000261800.5 - 21 12031 c.12019G>A c.(12019-12021)Gga>Aga p.G4007R CTC-251D13.1_ENST00000606930.1_RNA NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 4007 EGF-like 2. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGGAAGCTCCTTTGGGGGAG 0.542000 18 101 0 0 0.006122 0 0 ANK3 288 broad.mit.edu 37 10 61832650 61832650 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:61832650C>T ENST00000280772.1 - 37 8180 c.7989G>A c.(7987-7989)gaG>gaA p.E2663E 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) 2663 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 GTGCCTTCTCCTCGGCCTTGG 0.547000 9 31 0 0 0.010729 0 0 CMA1 1215 broad.mit.edu 37 14 24975482 24975482 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:24975482C>T ENST00000250378.3 - 4 381 c.352G>A c.(352-354)Gag>Aag p.E118K RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Missense_Mutation_p.E7K NM_001836.3 NP_001827.1 P23946 CMA1_HUMAN chymase 1, mast cell 118 Peptidase S1. interleukin-1 beta biosynthetic process|proteolysis extracellular region serine-type endopeptidase activity kidney(1)|lung(8)|pancreas(1)|prostate(1) 11 GBM - Glioblastoma multiforme(265;0.0271) CTGGCTTTCTCCTTCAACTGT 0.557000 6 32 0 0 0.006214 0 0 DNAH5 1767 broad.mit.edu 37 5 13727761 13727761 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:13727761G>A ENST00000265104.4 - 70 11992 c.11888C>T c.(11887-11889)tCg>tTg p.S3963L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3963 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) CTCATTTCTCGATATCTGAAA 0.398000 Kartagener syndrome 11 24 0 0 0.013537 0 0 DSP 1832 broad.mit.edu 37 6 7579759 7579759 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:7579759C>T ENST00000379802.3 + 23 3677 c.3336C>T c.(3334-3336)acC>acT p.T1112T DSP_ENST00000418664.2_Silent_p.T1112T NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1112 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AGAAGATCACCCGACTGACTT 0.428000 16 45 0 0 0.003163 0 0 PDGFD 80310 broad.mit.edu 37 11 103870929 103870929 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:103870929C>T ENST00000302251.5 - 2 612 c.161G>A c.(160-162)gGa>gAa p.G54E PDGFD_ENST00000393158.2_Missense_Mutation_p.G60E NM_025208.4|NM_033135.3 NP_079484.1|NP_149126.1 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D 60 CUB. positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) GTAGCCGTTTCCTTTCACCTG 0.478000 30 57 0 0 0.004289 0 0 CRIM1 51232 broad.mit.edu 37 2 36737231 36737231 + Missense_Mutation SNP C C G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:36737231C>G ENST00000280527.2 + 9 1974 c.1607C>G c.(1606-1608)cCc>cGc p.P536R NM_016441.2 NP_057525.1 Q9NZV1 CRIM1_HUMAN cysteine rich transmembrane BMP regulator 1 (chordin-like) 536 nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) CGCCCAAGGCCCAAGAAGTGC 0.443000 8 50 0 0 0.004482 0 0 BTN3A1 11119 broad.mit.edu 37 6 26408109 26408109 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:26408109G>A ENST00000289361.6 + 4 1012 c.644G>A c.(643-645)gGg>gAg p.G215E BTN3A1_ENST00000476549.2_Missense_Mutation_p.G215E|BTN3A1_ENST00000425234.2_Missense_Mutation_p.G215E|BTN3A1_ENST00000414912.2_Missense_Mutation_p.G163E NM_001145008.1|NM_001145009.1|NM_007048.5 NP_001138480.1|NP_001138481.1|NP_008979.3 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 215 Ig-like V-type 2. lipid metabolic process integral to membrane breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 GGCAGCTCTGGGGAGGGTGTA 0.547000 33 87 0 0 0.003271 0 0 CTSE 1510 broad.mit.edu 37 1 206319208 206319208 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:206319208C>T ENST00000361052.3 + 3 451 c.333C>T c.(331-333)agC>agT p.S111S CTSE_ENST00000360218.2_Silent_p.S111S|CTSE_ENST00000358184.2_Silent_p.S111S|CTSE_ENST00000432969.2_Silent_p.S36S P14091 CATE_HUMAN cathepsin E 111 antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis endosome aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3) 16 BRCA - Breast invasive adenocarcinoma(75;0.0754) ACTGCACTAGCCCAGCCTGCA 0.592000 12 26 0 0 0.010729 0 0 FERMT1 55612 broad.mit.edu 37 20 6065781 6065781 + Missense_Mutation SNP C C T rs151300234 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:6065781C>T ENST00000217289.4 - 12 2313 c.1525G>A c.(1525-1527)Gaa>Aaa p.E509K FERMT1_ENST00000478194.1_5'UTR|FERMT1_ENST00000536936.1_Missense_Mutation_p.E252K NM_017671.4 NP_060141.3 Q9BQL6 FERM1_HUMAN fermitin family member 1 509 FERM. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 TCCATGTTTTCGAGACTGGAA 0.448000 27 55 0 0 0.012213 0 0 CILP2 148113 broad.mit.edu 37 19 19655245 19655245 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:19655245G>A ENST00000586018.1 + 8 2011 c.1909G>A c.(1909-1911)Gac>Aac p.D637N CILP2_ENST00000291495.4_Missense_Mutation_p.D631N Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 631 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 CGTGGACAGCGACGGCGAGCT 0.726000 36 63 0 0 0.009718 0 0 CYP8B1 1582 broad.mit.edu 37 3 42916478 42916478 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:42916478G>A ENST00000316161.4 - 1 1155 c.831C>T c.(829-831)ttC>ttT p.F277F KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron|CYP8B1_ENST00000437102.1_Silent_p.F277F NM_004391.2 NP_004382.2 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, polypeptide 1 277 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5) 23 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) AGAGCATCATGAAGTTGAACT 0.582000 15 11 0 0 0.004007 0 0 UGT2A3 79799 broad.mit.edu 37 4 69796481 69796481 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:69796481G>A ENST00000251566.4 - 5 1117 c.1087C>T c.(1087-1089)Cat>Tat p.H363Y UGT2A3_ENST00000420231.2_Missense_Mutation_p.H74Y NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 363 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GTTTTGGGATGACCTAGTATG 0.358000 8 7 0 0 0.003080 0 0 RNF24 11237 broad.mit.edu 37 20 3915673 3915673 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:3915673C>T ENST00000336095.5 - 5 527 c.276G>A c.(274-276)ggG>ggA p.G92G RNF24_ENST00000358395.6_Silent_p.G92G|RNF24_ENST00000545616.1_Silent_p.G113G|RNF24_ENST00000432261.2_Silent_p.G113G NM_007219.3 NP_009150.1 Q9Y225 RNF24_HUMAN ring finger protein 24 92 Golgi membrane|integral to membrane zinc ion binding large_intestine(1)|upper_aerodigestive_tract(1) 2 ATGGGCAAATCCCCAACTCAT 0.463000 7 45 0 0 0.004482 0 0 OR5H14 403273 broad.mit.edu 37 3 97868678 97868678 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:97868678T>C ENST00000437310.1 + 1 509 c.449T>C c.(448-450)gTa>gCa p.V150A NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 TTGTCATATGTAGGTGGTCTT 0.378000 18 98 0 0 0.010504 0 0 VIPR2 7434 broad.mit.edu 37 7 158827297 158827297 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:158827297C>T ENST00000262178.2 - 9 1039 c.854G>A c.(853-855)cGa>cAa p.R285Q VIPR2_ENST00000377633.3_Missense_Mutation_p.R269Q|VIPR2_ENST00000402066.1_Missense_Mutation_p.R426Q NM_003382.4 NP_003373.2 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 285 cell-cell signaling integral to plasma membrane central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) AATCGGTATTCGTATGACCCA 0.473000 14 50 0 0 0.006122 0 0 C10orf71 118461 broad.mit.edu 37 10 50531678 50531678 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:50531678G>A ENST00000374144.3 + 3 1376 c.1088G>A c.(1087-1089)gGa>gAa p.G363E C10orf71_ENST00000323868.4_Missense_Mutation_p.G363E Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 363 endometrium(1) 1 GCTGTGGAAGGAAAAGCTCCC 0.532000 10 38 0 0 0.008291 0 0 OR5M8 219484 broad.mit.edu 37 11 56258736 56258736 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:56258736C>T ENST00000327216.2 - 1 135 c.111G>A c.(109-111)acG>acA p.T37T NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) TCCCTGCCACCGTGACCATGT 0.522000 27 71 0 0 0.007291 0 0 EEF1E1 9521 broad.mit.edu 37 6 8097578 8097578 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:8097578G>A ENST00000379715.5 - 2 266 c.210C>T c.(208-210)atC>atT p.I70I EEF1E1-MUTED_ENST00000397456.2_Silent_p.I70I|EEF1E1_ENST00000429723.2_Silent_p.I70I|EEF1E1_ENST00000507463.1_Silent_p.I70I NM_004280.4 NP_004271.1 O43324 MCA3_HUMAN eukaryotic translation elongation factor 1 epsilon 1 70 GST C-terminal. negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation cytosol|nucleus endometrium(1)|prostate(1) 2 Ovarian(93;0.0398) ACTGCTGAACGATTGCTTTTT 0.428000 36 107 0 0 0.005524 0 0 NRG1 3084 broad.mit.edu 37 8 32505638 32505638 + Missense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:32505638G>T ENST00000520502.2 + 1 402 c.402G>T c.(400-402)tgG>tgT p.W134C NRG1_ENST00000287840.5_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000341377.5_Intron NM_013959.3 NP_039253.1 Q02297 NRG1_HUMAN neuregulin 1 607 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) CAGCTGTGTGGGTGTCGTCTG 0.498000 7 43 1.06961e-07 1.16509e-07 0.003080 1 0 PCLO 27445 broad.mit.edu 37 7 82451874 82451874 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:82451874C>T ENST00000423517.2 - 20 15065 c.14728G>A c.(14728-14730)Gaa>Aaa p.E4910K PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Missense_Mutation_p.E4910K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4772 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 CCTGCATCTTCCAGGTGGGTC 0.507000 52 141 0 0 0.014410 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717743 142717743 + Silent SNP T T G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:142717743T>G ENST00000381779.4 - 2 1407 c.1182A>C c.(1180-1182)gtA>gtC p.V394V SLITRK4_ENST00000356928.1_Silent_p.V394V|SLITRK4_ENST00000338017.4_Silent_p.V394V NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 394 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) TGAAGTCTGATACGTCCACAT 0.393000 43 21 0 0 0.013114 0 0 OBSCN 84033 broad.mit.edu 37 1 228433155 228433155 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:228433155G>A ENST00000570156.2 + 13 3873 c.3799G>A c.(3799-3801)Gag>Aag p.E1267K OBSCN_ENST00000422127.1_Missense_Mutation_p.E1175K|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E1175K NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 229 Ig-like 13. 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) AGTGCATAATGAGGTGCAGGC 0.587000 8 51 0 0 0.003080 0 0 RYR3 6263 broad.mit.edu 37 15 34129148 34129148 + Silent SNP C C G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:34129148C>G ENST00000389232.4 + 88 11680 c.11610C>G c.(11608-11610)ctC>ctG p.L3870L RYR3_ENST00000415757.3_Silent_p.L3865L NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3870 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCTTGGATCTCCTTCAGGACA 0.488000 7 15 0 0 0.003080 0 0 MAP3K15 389840 broad.mit.edu 37 X 19482366 19482366 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:19482366G>A ENST00000338883.4 - 4 683 c.684C>T c.(682-684)ttC>ttT p.F228F MAP3K15_ENST00000469203.2_Silent_p.F60F|MAP3K15_ENST00000518578.1_5'UTR NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 228 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) GGAGGCTAATGAACCTGTCCA 0.547000 31 11 0 0 0.003271 0 0 KNSTRN 90417 broad.mit.edu 37 15 40675107 40675107 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:40675107C>T ENST00000416151.2 + 1 186 c.71C>T c.(70-72)tCc>tTc p.S24F KNSTRN_ENST00000448395.2_Missense_Mutation_p.S24F|KNSTRN_ENST00000249776.8_Missense_Mutation_p.S24F NM_001142761.1 NP_001136233.1 kinetochore-localized astrin/SPAG5 binding protein p.S24F(1) GAGTGCGATTCCCACCCACTT 0.567000 23 14 0 0 0.014323 0 0 DIAPH1 1729 broad.mit.edu 37 5 140954623 140954623 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140954623C>T ENST00000253811.6 - 15 1692 c.1552G>A c.(1552-1554)Gga>Aga p.G518R DIAPH1_ENST00000518047.1_Missense_Mutation_p.G509R|DIAPH1_ENST00000520569.1_Missense_Mutation_p.G464R|DIAPH1_ENST00000389057.5_Missense_Mutation_p.G509R|DIAPH1_ENST00000398562.2_Missense_Mutation_p.G509R|DIAPH1_ENST00000398566.3_Missense_Mutation_p.G509R|DIAPH1_ENST00000389054.3_Missense_Mutation_p.G518R|DIAPH1_ENST00000398557.4_Missense_Mutation_p.G518R O60610 DIAP1_HUMAN diaphanous-related formin 1 518 regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTTTTTCTCCCTGAAGATCT 0.458000 9 35 0 0 0.006214 0 0 FBXW4 6468 broad.mit.edu 37 10 103433355 103433355 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:103433355G>A ENST00000331272.7 - 3 1050 c.432C>T c.(430-432)ttC>ttT p.F144F NM_022039.3 NP_071322.1 P57775 FBXW4_HUMAN F-box and WD repeat domain containing 4 144 ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway ubiquitin ligase complex breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 15 Colorectal(252;0.123) Epithelial(162;4.35e-08)|all cancers(201;1.92e-06) CATCTGGACGGAACTGGTAGG 0.483000 7 41 0 0 0.001984 0 0 OR1E1 8387 broad.mit.edu 37 17 3300826 3300826 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:3300826C>T ENST00000322608.2 - 1 878 c.879G>A c.(877-879)agG>agA p.R293R NM_003553.2 NP_003544.2 P30953 OR1E1_HUMAN olfactory receptor, family 1, subfamily E, member 1 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(2)|lung(5) 10 TGTCTCTGTTCCTCAGGCTGT 0.438000 17 15 0 0 0.007413 0 0 SEMA3E 9723 broad.mit.edu 37 7 83029528 83029528 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:83029528G>A ENST00000307792.3 - 11 1649 c.1182C>T c.(1180-1182)acC>acT p.T394T SEMA3E_ENST00000427262.1_Silent_p.T334T NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 394 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) GATAGTCCTTGGTGGTTCCGT 0.388000 19 100 0 0 0.014323 0 0 PLCZ1 89869 broad.mit.edu 37 12 18854641 18854641 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:18854641C>T ENST00000266505.7 - 8 1197 c.934G>A c.(934-936)Ggt>Agt p.G312S PLCZ1_ENST00000541695.1_Missense_Mutation_p.G175S|PLCZ1_ENST00000539875.1_Missense_Mutation_p.G119S|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000538330.1_Missense_Mutation_p.G53S|PLCZ1_ENST00000447925.2_Missense_Mutation_p.G310S|PLCZ1_ENST00000435379.1_Missense_Mutation_p.G117S Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 312 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) TTATCAGAACCTTTTCTTTCA 0.418000 6 6 0 0 0.003080 0 0 B4GALT1 2683 broad.mit.edu 37 9 33120558 33120558 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:33120558A>G ENST00000379731.4 - 3 881 c.695T>C c.(694-696)tTt>tCt p.F232S B4GALT1_ENST00000535206.1_Intron|B4GALT1_ENST00000541851.1_5'UTR NM_001497.3 NP_001488.2 P15291 B4GT1_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 232 oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1) 14 LUSC - Lung squamous cell carcinoma(29;0.0084) GBM - Glioblastoma multiforme(74;0.121) N-Acetyl-D-glucosamine(DB00141) GGCTTCTTGAAAGCCAACATT 0.433000 19 26 0 0 0.010504 0 0 WIZ 58525 broad.mit.edu 37 19 15535061 15535061 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:15535061G>A ENST00000389282.4 - 9 4942 c.4729C>T c.(4729-4731)Ctg>Ttg p.L1577L WIZ_ENST00000263381.6_Silent_p.L720L|WIZ_ENST00000599910.1_Silent_p.L894L|WIZ_ENST00000599686.2_Silent_p.L761L|WIZ_ENST00000545156.1_Silent_p.L891L O95785 WIZ_HUMAN widely interspaced zinc finger motifs 1577 nucleus zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 24 CGGGGCACCAGGGAGGGGACT 0.662000 12 23 0 0 0.002450 0 0 GBA3 57733 broad.mit.edu 37 4 22737782 22737782 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:22737782C>T ENST00000503442.1 + 0 328 GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.1_RNA NM_001128432.2 NP_001121904.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TCTCTCTTTCCTGGTCACGTC 0.438000 56 49 0 0 0.014410 0 0 BTNL3 10917 broad.mit.edu 37 5 180432455 180432455 + Missense_Mutation SNP G G C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:180432455G>C ENST00000342868.6 + 8 1168 c.984G>C c.(982-984)aaG>aaC p.K328N NM_197975.2 NP_932079.1 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 328 B30.2/SPRY. 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) TTACAAGGAAGAGTGTGGTGG 0.517000 15 52 0 0 0.004007 0 0 DDC 1644 broad.mit.edu 37 7 50605602 50605602 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:50605602C>T ENST00000444124.2 - 4 591 c.391G>A c.(391-393)Gca>Aca p.A131T DDC_ENST00000489162.1_5'UTR|DDC_ENST00000357936.5_Missense_Mutation_p.A131T|DDC_ENST00000431062.1_Missense_Mutation_p.A131T|DDC_ENST00000380984.4_Missense_Mutation_p.A131T|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000426377.1_Intron NM_001082971.1 NP_001076440.1 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 131 2 X approximate tandem repeats. cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) TTCAAAAATGCCTTTGGTAGT 0.562000 14 61 0 0 0.006122 0 0 DOCK7 85440 broad.mit.edu 37 1 63024829 63024829 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:63024829G>A ENST00000251157.5 - 20 2295 c.2262C>T c.(2260-2262)gtC>gtT p.V754V DOCK7_ENST00000340370.5_Silent_p.V754V NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 754 DHR-1. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 CCCCAATTCGGACTGGGAACA 0.393000 10 22 0 0 0.013537 0 0 SIM1 6492 broad.mit.edu 37 6 100897528 100897528 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:100897528G>A ENST00000369208.3 - 5 1178 c.396C>T c.(394-396)gaC>gaT p.D132D SIM1_ENST00000262901.4_Silent_p.D132D P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 132 PAS 1. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TCTCGTCGTGGTCTGCCGGGT 0.592000 15 51 0 0 0.004007 0 0 PRKCI 5584 broad.mit.edu 37 3 169999030 169999030 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:169999030C>T ENST00000295797.4 + 10 1264 c.959C>T c.(958-960)tCt>tTt p.S320F NM_002740.5 NP_002731.4 P41743 KPCI_HUMAN protein kinase C, iota 320 Protein kinase. anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) GGGCTGCATTCTTGCTTTCAG 0.383000 7 35 0 0 0.001984 0 0 FBXO10 26267 broad.mit.edu 37 9 37515999 37515999 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:37515999G>A ENST00000432825.2 - 10 2646 c.2598C>T c.(2596-2598)atC>atT p.I866I FBXO10_ENST00000541829.1_Silent_p.I391I|RP11-613M10.8_ENST00000544475.1_5'UTR NM_012166.2 NP_036298.2 Q9UK96 FBX10_HUMAN F-box protein 10 866 ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) CCTGGAAGATGATGTTTTCCT 0.522000 41 46 0 0 0.006230 0 0 PPP6C 5537 broad.mit.edu 37 9 127915938 127915938 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:127915938C>T ENST00000451402.1 - 7 874 c.654G>A c.(652-654)cgG>cgA p.R218R PPP6C_ENST00000373547.4_Silent_p.R181R|PPP6C_ENST00000415905.1_Silent_p.R159R|PPP6C_ENST00000373546.3_Silent_p.R34R NM_001123355.1 NP_001116827.1 O00743 PPP6_HUMAN protein phosphatase 6, catalytic subunit 181 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 TTTCCTGATTCCGTTCGATGG 0.428000 9 20 0 0 0.004482 0 0 RARS 5917 broad.mit.edu 37 5 167915660 167915660 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:167915660C>T ENST00000231572.3 + 2 153 c.99C>T c.(97-99)ggC>ggT p.G33G RARS_ENST00000538719.1_5'UTR NM_002887.3 NP_002878.2 P54136 SYRC_HUMAN arginyl-tRNA synthetase 33 Could be involved in the assembly of the multisynthetase complex. arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1) 22 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) AAAACTGTGGCTGTTTAGGAG 0.363000 8 23 0 0 0.003080 0 0 PROC 5624 broad.mit.edu 37 2 128183746 128183746 + Silent SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:128183746A>G ENST00000453608.2 + 6 794 c.786A>G c.(784-786)caA>caG p.Q262Q PROC_ENST00000422777.3_Silent_p.Q207Q|PROC_ENST00000234071.3_Silent_p.Q207Q|PROC_ENST00000409048.1_Silent_p.Q241Q P04070 PROC_HUMAN protein C (inactivator of coagulation factors Va and VIIIa) 207 Peptidase S1. blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|protein binding|serine-type endopeptidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0673) Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464) AAGAAGACCAAGTAGATCCGC 0.612000 36 56 0 0 0.004289 0 0 LPPR4 9890 broad.mit.edu 37 1 99762394 99762394 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:99762394C>T ENST00000370185.3 + 3 1006 c.509C>T c.(508-510)tCc>tTc p.S170F LPPR4_ENST00000457765.1_Missense_Mutation_p.S170F NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 170 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) AACTTCAATTCCTTCCTCAGA 0.393000 16 43 0 0 0.007413 0 0 CPN1 1369 broad.mit.edu 37 10 101816837 101816837 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:101816837G>A ENST00000370418.3 - 6 1195 c.944C>T c.(943-945)cCc>cTc p.P315L NM_001308.2 NP_001299.1 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 315 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) CTCTTCGGGGGGAAACTTGTC 0.468000 42 126 0 0 0.014410 0 0 HIBADH 11112 broad.mit.edu 37 7 27570934 27570934 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:27570934G>A ENST00000265395.2 - 7 935 c.729C>T c.(727-729)atC>atT p.I243I NM_152740.3 NP_689953.1 P31937 3HIDH_HUMAN 3-hydroxyisobutyrate dehydrogenase 243 branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process mitochondrial matrix 3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1) 12 GBM - Glioblastoma multiforme(3;0.0368) NADH(DB00157) TCATATTTAGGATTTTAGCCA 0.433000 160 378 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179424620 179424620 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179424620C>T ENST00000589042.1 - 326 86463 c.86239G>A c.(86239-86241)Gaa>Aaa p.E28747K TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E19682K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E19807K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E26179K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E19874K|TTN_ENST00000591111.1_Missense_Mutation_p.E27106K|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27106 Fibronectin type-III 109. 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) TCTTCTCTTTCCTTTGCTATC 0.433000 25 61 0 0 0.003954 0 0 RHBDD3 25807 broad.mit.edu 37 22 29656822 29656822 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:29656822G>A ENST00000216085.7 - 5 988 c.564C>T c.(562-564)ccC>ccT p.P188P NM_012265.1 NP_036397.1 Q9Y3P4 RHBD3_HUMAN rhomboid domain containing 3 188 integral to membrane serine-type endopeptidase activity lung(1)|ovary(1) 2 GTCGCTCTGAGGGTTCCAGCC 0.701000 9 8 0 0 0.010729 0 0 SIRPG 55423 broad.mit.edu 37 20 1629899 1629899 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:1629899T>A ENST00000381580.1 - 2 309 c.130A>T c.(130-132)Atc>Ttc p.I44F SIRPG_ENST00000344103.4_Missense_Mutation_p.I77F|SIRPG_ENST00000216927.4_Missense_Mutation_p.I77F|SIRPG_ENST00000303415.3_Missense_Mutation_p.I77F|SIRPG_ENST00000381583.2_Missense_Mutation_p.I77F Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 77 Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 TGATTGTAGATTAATTCCCGG 0.512000 17 69 0 0 0.004990 0 0 ACAP2 23527 broad.mit.edu 37 3 195053811 195053811 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:195053811T>A ENST00000326793.6 - 8 845 c.615A>T c.(613-615)caA>caT p.Q205H NM_012287.5 NP_036419.3 Q15057 ACAP2_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 205 BAR. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 27 GATCATATCCTTGATGAAAGA 0.333000 13 57 0 0 0.004007 0 0 INADL 10207 broad.mit.edu 37 1 62550265 62550265 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:62550265C>T ENST00000371158.2 + 33 4436 c.4322C>T c.(4321-4323)tCc>tTc p.S1441F INADL_ENST00000543708.1_Missense_Mutation_p.S225F|INADL_ENST00000545929.1_Missense_Mutation_p.S114F|INADL_ENST00000316485.6_Missense_Mutation_p.S1441F NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 1441 PDZ 8. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 ATAGAAATATCCAAGGGACGT 0.458000 18 60 0 0 0.008871 0 0 GPRC5B 51704 broad.mit.edu 37 16 19883939 19883939 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:19883939G>A ENST00000300571.2 - 2 420 c.229C>T c.(229-231)Ctc>Ttc p.L77F GPRC5B_ENST00000537135.1_Missense_Mutation_p.L103F|GPRC5B_ENST00000569479.1_Missense_Mutation_p.L77F|GPRC5B_ENST00000535671.1_Missense_Mutation_p.L77F|GPRC5B_ENST00000569847.1_Missense_Mutation_p.L77F NM_016235.1 NP_057319.1 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, member B 77 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 CGCACCAGGAGGATGAGCATC 0.637000 9 33 0 0 0.008291 0 0 PDHA2 5161 broad.mit.edu 37 4 96761419 96761419 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:96761419G>A ENST00000295266.4 + 1 181 c.118G>A c.(118-120)Gat>Aat p.D40N NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 40 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) TAAGAAATGTGATCTTTATCT 0.512000 8 9 0 0 0.003080 0 0 EXO5 64789 broad.mit.edu 37 1 40980261 40980261 + Silent SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:40980261A>G ENST00000372703.1 + 2 1119 c.45A>G c.(43-45)tcA>tcG p.S15S EXO5_ENST00000471429.1_3'UTR|RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000358527.2_Silent_p.S15S|EXO5_ENST00000296380.4_Silent_p.S15S exonuclease 5 CAGAAGCCTCAGGGTTCTCAG 0.488000 30 79 0 0 0.013726 0 0 PSG6 5675 broad.mit.edu 37 19 43421897 43421897 + Missense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:43421897C>A ENST00000187910.2 - 1 113 c.48G>T c.(46-48)aaG>aaT p.K16N PSG6_ENST00000292125.2_Missense_Mutation_p.K16N|PSG6_ENST00000402603.4_Missense_Mutation_p.K16N|PSG6_ENST00000601833.1_Intron NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) GCAGGAGCCCCTTCCAGGTGA 0.587000 34 75 2.87052e-16 3.14784e-16 0.005524 1 0 IGF2 3481 broad.mit.edu 37 11 2156695 2156695 + Missense_Mutation SNP G G A rs142012621 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:2156695G>A ENST00000416167.2 - 2 1225 c.59C>T c.(58-60)tCg>tTg p.S20L IGF2_ENST00000337883.6_Missense_Mutation_p.S20L|IGF2_ENST00000434045.2_Missense_Mutation_p.S76L|IGF2_ENST00000418738.2_Missense_Mutation_p.S20L|IGF2_ENST00000300632.5_Missense_Mutation_p.S20L|IGF2_ENST00000381406.4_Missense_Mutation_p.S20L|IGF2_ENST00000381389.1_Missense_Mutation_p.S20L|IGF2_ENST00000381395.1_Missense_Mutation_p.S20L|IGF2_ENST00000381392.1_Missense_Mutation_p.S20L P01344 IGF2_HUMAN insulin-like growth factor 2 (somatomedin A) 20 glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development extracellular space growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1) 6 all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029) BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) AATGCAGCACGAGGCGAAGGC 0.632000 11 30 0 0 0.013537 0 0 KRTAP5-2 440021 broad.mit.edu 37 11 1619005 1619005 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:1619005T>C ENST00000412090.1 - 1 519 c.476A>G c.(475-477)aAg>aGg p.K159R KRTAP5-AS1_ENST00000424148.1_RNA NM_001004325.1 NP_001004325.1 Q701N4 KRA52_HUMAN keratin associated protein 5-2 159 6 X 4 AA repeats of C-C-X-P. keratin filament large_intestine(1)|lung(2)|skin(1) 4 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GCAACAGGGCTTGCAGCAGCT 0.587000 21 75 0 0 0.010504 0 0 SYT14 255928 broad.mit.edu 37 1 210334187 210334187 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:210334187C>T ENST00000537238.1 + 9 1745 c.1354C>T c.(1354-1356)Caa>Taa p.Q452* SYT14_ENST00000422431.1_Nonsense_Mutation_p.Q554*|SYT14_ENST00000399639.2_3'UTR|SYT14_ENST00000367015.1_Nonsense_Mutation_p.Q452*|SYT14_ENST00000472886.1_Nonsense_Mutation_p.Q490*|SYT14_ENST00000367019.1_Nonsense_Mutation_p.Q509*|SYT14_ENST00000534859.1_Nonsense_Mutation_p.Q516*|SYT14_ENST00000271745.7_3'UTR NM_001256006.1|NM_153262.3 NP_001242935.1|NP_694994.2 Q8NB59 SYT14_HUMAN synaptotagmin XIV 490 C2 2. integral to membrane endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3) 37 OV - Ovarian serous cystadenocarcinoma(81;0.085) TTTTGTCTTTCAAGTGGCCCT 0.413000 25 57 0 0 0.003954 0 0 NEB 4703 broad.mit.edu 37 2 152381753 152381753 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:152381753C>T ENST00000397345.3 - 151 22398 c.22196G>A c.(22195-22197)gGa>gAa p.G7399E NEB_ENST00000172853.10_Missense_Mutation_p.G5698E|NEB_ENST00000603639.1_Missense_Mutation_p.G7399E|NEB_ENST00000427231.2_Missense_Mutation_p.G7399E|NEB_ENST00000604864.1_Missense_Mutation_p.G7399E|NEB_ENST00000409198.1_Missense_Mutation_p.G5698E NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 5698 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GTTGGATTTTCCTTTCTCCTT 0.403000 28 47 0 0 0.009535 0 0 HARS 3035 broad.mit.edu 37 5 140062742 140062742 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140062742G>A ENST00000504366.1 - 2 1855 c.36C>T c.(34-36)atC>atT p.I12I HARS_ENST00000307633.3_Intron|HARS_ENST00000504156.1_Silent_p.I81I|HARS_ENST00000457527.2_Silent_p.I81I|HARS_ENST00000438307.2_Intron|HARS_ENST00000431330.2_Intron|HARS_ENST00000448240.1_5'UTR|HARS_ENST00000415192.2_Silent_p.I81I P12081 SYHC_HUMAN histidyl-tRNA synthetase 81 WHEP-TRS. histidyl-tRNA aminoacylation cytosol ATP binding|histidine-tRNA ligase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) L-Histidine(DB00117) TGAAGCAACGGATGATTACGT 0.483000 13 38 0 0 0.001855 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48594704 48594704 + Silent SNP G G A rs79000284 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:48594704G>A ENST00000323776.5 + 3 546 c.384G>A c.(382-384)caG>caA p.Q128Q MYCBPAP_ENST00000436259.2_Silent_p.Q91Q NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 91 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) TCATCACCCAGAAATTTATCA 0.458000 58 33 0 0 0.014410 0 0 RASGRF1 5923 broad.mit.edu 37 15 79320131 79320131 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:79320131C>T ENST00000419573.3 - 9 1607 c.1333G>A c.(1333-1335)Gaa>Aaa p.E445K RASGRF1_ENST00000558480.2_Missense_Mutation_p.E445K|RASGRF1_ENST00000560334.1_5'UTR NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 445 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TCACAGCCTTCGATGATCATG 0.567000 41 47 0 0 0.009718 0 0 LILRA1 11024 broad.mit.edu 37 19 55106176 55106176 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:55106176C>T ENST00000453777.1 + 4 287 c.117C>T c.(115-117)atC>atT p.I39I LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Silent_p.I39I NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 39 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) GCTCTGTGATCACCCAGGGGA 0.542000 17 64 0 0 0.004007 0 0 SLC9C2 284525 broad.mit.edu 37 1 173495844 173495844 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:173495844C>T ENST00000367714.3 - 19 2745 c.2323G>A c.(2323-2325)Gaa>Aaa p.E775K SLC9C2_ENST00000536496.1_3'UTR|SLC9C2_ENST00000466087.1_5'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 775 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity TCCAAAATTTCACATAGTTTC 0.264000 15 34 0 0 0.004007 0 0 LRP8 7804 broad.mit.edu 37 1 53722919 53722919 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:53722919G>A ENST00000306052.6 - 15 2528 c.2427C>T c.(2425-2427)tcC>tcT p.S809S LRP8_ENST00000354412.3_Intron|LRP8_ENST00000460214.1_5'UTR|LRP8_ENST00000465675.1_Silent_p.S362S|LRP8_ENST00000347547.2_Silent_p.S639S|LRP8_ENST00000371454.2_Silent_p.S809S NM_004631.4 NP_004622.2 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 8, apolipoprotein e receptor 809 cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 TACAGTGCTGGGAGTGGTTGC 0.552000 10 28 0 0 0.006214 0 0 DENND3 22898 broad.mit.edu 37 8 142186792 142186792 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:142186792G>A ENST00000519811.1 + 15 2708 c.2638G>A c.(2638-2640)Gag>Aag p.E880K DENND3_ENST00000262585.2_Missense_Mutation_p.E800K|DENND3_ENST00000424248.1_Missense_Mutation_p.E748K A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 800 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) CCTGAAAACCGAGTGTGACCT 0.522000 27 53 0 0 0.006320 0 0 GLB1L2 89944 broad.mit.edu 37 11 134214955 134214955 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:134214955C>T ENST00000535456.2 + 4 569 c.381C>T c.(379-381)atC>atT p.I127I GLB1L2_ENST00000389881.3_Silent_p.I127I|GLB1L2_ENST00000339772.7_Silent_p.I127I NM_138342.3 NP_612351.2 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 127 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) CCGCAGAGATCGGGCTGTGGG 0.662000 7 25 0 0 0.003080 0 0 NEIL1 79661 broad.mit.edu 37 15 75641615 75641615 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:75641615G>A ENST00000564784.1 + 3 998 c.369G>A c.(367-369)tgG>tgA p.W123* NEIL1_ENST00000569035.1_Nonsense_Mutation_p.W123*|NEIL1_ENST00000567959.1_Intron|NEIL1_ENST00000355059.4_Nonsense_Mutation_p.W123* Q96FI4 NEIL1_HUMAN nei endonuclease VIII-like 1 (E. coli) 123 base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress cytoplasm|nucleus damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1) 13 TCGGCCGCTGGGACCTTGGGG 0.672000 Base excision repair (BER), DNA glycosylases 22 32 0 0 0.002780 0 0 FAM86B2 653333 broad.mit.edu 37 8 12285121 12285121 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:12285121G>A ENST00000393715.3 - 3 487 c.253C>T c.(253-255)Ccc>Tcc p.P85S FAM86B2_ENST00000262365.4_Intron|FAM86B2_ENST00000309608.5_Intron|FAM86B2_ENST00000351291.4_Intron P0C5J1 F86B2_HUMAN family with sequence similarity 86, member B2 0 endometrium(1)|kidney(2) 3 GTCCTGCAGGGACAGCTCGGG 0.632000 8 37 0 0 0.003080 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51630528 51630528 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:51630528G>A ENST00000440804.3 + 4 1057 c.990G>A c.(988-990)caG>caA p.Q330Q SIGLEC9_ENST00000250360.3_Silent_p.Q330Q NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 330 Ig-like C2-type 2. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) GCTCTCAGCAGGTCTACCTGA 0.602000 5 27 0 0 0.000602 0 0 MUC16 94025 broad.mit.edu 37 19 9071371 9071371 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9071371G>A ENST00000397910.4 - 3 16278 c.16075C>T c.(16075-16077)Ccc>Tcc p.P5359S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5361 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 GGAGAGGAGGGGATGCTCTGT 0.527000 29 43 0 0 0.005443 0 0 RYR2 6262 broad.mit.edu 37 1 237955551 237955551 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:237955551C>T ENST00000366574.2 + 94 14027 c.13710C>T c.(13708-13710)ccC>ccT p.P4570P RYR2_ENST00000542537.1_Silent_p.P4554P|RYR2_ENST00000360064.6_Silent_p.P4576P NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4570 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACATGGAGCCCACGTTGCGTA 0.463000 9 33 0 0 0.001855 0 0 ZSCAN22 342945 broad.mit.edu 37 19 58850520 58850520 + Missense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:58850520C>A ENST00000329665.4 + 3 1451 c.1304C>A c.(1303-1305)cCa>cAa p.P435Q NM_181846.2 NP_862829.1 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 435 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2) 16 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) GGAGAGAAGCCATATCAGTGT 0.562000 17 59 6.44725e-10 7.04444e-10 0.014323 1 0 SLC12A3 6559 broad.mit.edu 37 16 56916348 56916348 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:56916348C>T ENST00000438926.2 + 13 1637 c.1608C>T c.(1606-1608)ttC>ttT p.F536F SLC12A3_ENST00000566786.1_Silent_p.F535F|SLC12A3_ENST00000563236.1_Silent_p.F536F|SLC12A3_ENST00000262502.5_Silent_p.F535F NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330.2|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 536 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) CCAACTTCTTCCTCTGCTCCT 0.572000 15 51 0 0 0.004990 0 0 OR5B12 390191 broad.mit.edu 37 11 58207496 58207496 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:58207496C>T ENST00000302572.2 - 1 150 c.129G>A c.(127-129)atG>atA p.M43I NM_001004733.2 NP_001004733.1 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, member 12 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1) 40 Esophageal squamous(5;0.0027) Breast(21;0.0778) TCAATTCAATCATCCCCAGGT 0.483000 12 32 0 0 0.013537 0 0 CATSPER4 378807 broad.mit.edu 37 1 26524783 26524783 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:26524783T>C ENST00000456354.2 + 6 752 c.685T>C c.(685-687)Tcc>Ccc p.S229P NM_198137.1 NP_937770.1 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 229 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) ACAGGTTTTTTCCGTGTTTGG 0.493000 133 270 0 0 0.014410 0 0 ZNF569 148266 broad.mit.edu 37 19 37904098 37904098 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:37904098G>A ENST00000316950.6 - 6 2019 c.1462C>T c.(1462-1464)Cat>Tat p.H488Y ZNF569_ENST00000392150.2_Missense_Mutation_p.H329Y|ZNF569_ENST00000392149.2_Missense_Mutation_p.H488Y NM_152484.2 NP_689697.2 Q5MCW4 ZN569_HUMAN zinc finger protein 569 488 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCTCCAGAATGAATTTTTTCA 0.373000 9 24 0 0 0.006214 0 0 SYT10 341359 broad.mit.edu 37 12 33535419 33535419 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:33535419C>T ENST00000228567.3 - 5 1531 c.1235G>A c.(1234-1236)cGa>cAa p.R412Q SYT10_ENST00000535526.1_Missense_Mutation_p.R231Q NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 412 C2 2. 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) TTTTAATCTTCGACCTTCACA 0.343000 21 17 0 0 0.003330 0 0 ZNF558 148156 broad.mit.edu 37 19 8931947 8931947 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:8931947G>A ENST00000601372.1 - 7 867 c.156C>T c.(154-156)ttC>ttT p.F52F ZNF558_ENST00000444186.2_5'UTR|ZNF558_ENST00000301475.1_Silent_p.F52F Q96NG5 ZN558_HUMAN zinc finger protein 558 52 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 CCTCCTGGGTGAACTCCACGG 0.572000 21 37 0 0 0.010504 0 0 TNC 3371 broad.mit.edu 37 9 117786291 117786291 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:117786291G>A ENST00000350763.4 - 27 6867 c.6456C>T c.(6454-6456)gtC>gtT p.V2152V TNC_ENST00000542877.1_Silent_p.V1789V|TNC_ENST00000340094.3_Silent_p.V1788V|TNC_ENST00000535648.1_Silent_p.V1697V|TNC_ENST00000345230.3_Silent_p.V1515V|TNC_ENST00000537320.1_Silent_p.V1515V|TNC_ENST00000346706.3_Silent_p.V1606V|TNC_ENST00000423613.2_Silent_p.V1879V|TNC_ENST00000341037.4_Silent_p.V1970V NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 2152 Fibrinogen C-terminal. 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 CCATCAGGTTGACACGGTGAC 0.547000 34 50 0 0 0.012213 0 0 HNF4A 3172 broad.mit.edu 37 20 43043289 43043289 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:43043289C>T ENST00000316099.3 + 5 724 c.635C>T c.(634-636)cCc>cTc p.P212L HNF4A_ENST00000443598.2_Missense_Mutation_p.P212L|HNF4A_ENST00000457232.1_Missense_Mutation_p.P190L|HNF4A_ENST00000415691.1_Missense_Mutation_p.P212L NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 212 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) TGCGAGCTCCCCCTGGACGAC 0.617000 55 118 0 0 0.014410 0 0 CHD5 26038 broad.mit.edu 37 1 6209413 6209413 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:6209413C>T ENST00000262450.3 - 8 1153 c.1054G>A c.(1054-1056)Ggt>Agt p.G352S CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 352 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) ATCTCCCCACCCTGCTGGCAC 0.597000 20 26 0 0 0.010504 0 0 KCNQ2 3785 broad.mit.edu 37 20 62046258 62046258 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:62046258T>C ENST00000354587.3 - 11 1615 c.1439A>G c.(1438-1440)gAa>gGa p.E480G KCNQ2_ENST00000360480.3_Missense_Mutation_p.E480G|KCNQ2_ENST00000344462.3_Missense_Mutation_p.E468G|KCNQ2_ENST00000370226.1_Missense_Mutation_p.E478G|KCNQ2_ENST00000359689.1_Missense_Mutation_p.E508G|KCNQ2_ENST00000357249.2_Missense_Mutation_p.E490G|KCNQ2_ENST00000370224.1_Missense_Mutation_p.E480G|KCNQ2_ENST00000370222.3_Missense_Mutation_p.E480G|KCNQ2_ENST00000430658.1_Missense_Mutation_p.E478G|KCNQ2_ENST00000359125.2_Missense_Mutation_p.E508G O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 508 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) ACACCCACCTTCTGAGTTCTG 0.662000 18 91 0 0 0.006122 0 0 THBS1 7057 broad.mit.edu 37 15 39879662 39879662 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:39879662G>A ENST00000260356.5 + 8 1400 c.1235G>A c.(1234-1236)cGa>cAa p.R412Q NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 412 TSP type-1 1. 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) CTCAACAACCGATGTGAGGGC 0.577000 8 9 0 0 0.006214 0 0 NEB 4703 broad.mit.edu 37 2 152490409 152490409 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:152490409G>A ENST00000397345.3 - 65 9375 c.9173C>T c.(9172-9174)cCc>cTc p.P3058L NEB_ENST00000172853.10_Intron|NEB_ENST00000603639.1_Missense_Mutation_p.P3058L|NEB_ENST00000427231.2_Missense_Mutation_p.P3058L|NEB_ENST00000604864.1_Missense_Mutation_p.P3058L|NEB_ENST00000409198.1_Intron NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 3058 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CATCATCTTGGGGTCATCTTC 0.443000 24 136 0 0 0.004656 0 0 GRID2 2895 broad.mit.edu 37 4 94006276 94006276 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:94006276G>A ENST00000282020.4 + 3 633 c.375G>A c.(373-375)ggG>ggA p.G125G GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 125 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) CAACAGCTGGGACCCCAAGGA 0.557000 23 22 0 0 0.003330 0 0 AKR1B10 57016 broad.mit.edu 37 7 134217800 134217800 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:134217800C>T ENST00000359579.4 + 4 716 c.396C>T c.(394-396)atC>atT p.I132I AKR1B10_ENST00000475559.1_3'UTR NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) 132 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 GTAATGCCATCGGTGGAAAAG 0.463000 48 74 0 0 0.014410 0 0 MAGI2 9863 broad.mit.edu 37 7 77756673 77756673 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:77756673G>A ENST00000354212.4 - 19 3517 c.3264C>T c.(3262-3264)ttC>ttT p.F1088F MAGI2_ENST00000522391.1_Silent_p.F1088F|MAGI2_ENST00000419488.1_Silent_p.F1074F NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 1088 Pro-rich. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TGTAGTCTGTGAATGGAGGCT 0.537000 20 48 0 0 0.010504 0 0 F2 2147 broad.mit.edu 37 11 46747500 46747500 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:46747500G>A ENST00000311907.5 + 7 707 c.651G>A c.(649-651)cgG>cgA p.R217R F2_ENST00000530231.1_Silent_p.R217R NM_000506.3 NP_000497.1 P00734 THRB_HUMAN coagulation factor II (thrombin) 217 Kringle 2. activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) TCCCTGATCGGGGGCAGCAGT 0.642000 14 43 0 0 0.001855 0 0 ARNT2 9915 broad.mit.edu 37 15 80855474 80855474 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:80855474C>T ENST00000533983.1 + 13 1516 c.1177C>T c.(1177-1179)Cgc>Tgc p.R393C ARNT2_ENST00000303329.4_Missense_Mutation_p.R404C|ARNT2_ENST00000527771.1_Missense_Mutation_p.R393C Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 404 PAS 2. central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity p.R404C(1) NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) GTATCGATTTCGCACCAAGAA 0.493000 49 141 0 0 0.014410 0 0 LPHN2 23266 broad.mit.edu 37 1 82418681 82418681 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:82418681G>A ENST00000370728.1 + 12 2438 c.1793G>A c.(1792-1794)cGa>cAa p.R598Q LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Intron|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.R598Q|LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000370730.1_Missense_Mutation_p.R598Q|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000335786.5_Missense_Mutation_p.R598Q|LPHN2_ENST00000370715.1_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.R598Q|LPHN2_ENST00000370723.1_Intron|LPHN2_ENST00000271029.4_Missense_Mutation_p.R598Q|LPHN2_ENST00000370727.1_Missense_Mutation_p.R598Q O95490 LPHN2_HUMAN latrophilin 2 598 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CTCCAAAAACGAGAGAAGACA 0.403000 14 29 0 0 0.004007 0 0 USH2A 7399 broad.mit.edu 37 1 215808041 215808041 + Silent SNP C C T rs144781528 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:215808041C>T ENST00000366943.2 - 70 15443 c.15057G>A c.(15055-15057)ttG>ttA p.L5019L USH2A_ENST00000307340.3_Silent_p.L5019L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 5019 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTGTTAGGACCAAGCCTGCAA 0.448000 HNSCC(13;0.011) 19 56 0 0 0.010504 0 0 SCN7A 6332 broad.mit.edu 37 2 167322339 167322339 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:167322339C>T ENST00000409855.1 - 7 949 c.823G>A c.(823-825)Gaa>Aaa p.E275K NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 275 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 GTTTCATTTTCATTCTCTTGG 0.373000 11 75 0 0 0.001855 0 0 MYH13 8735 broad.mit.edu 37 17 10267715 10267715 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:10267715C>T ENST00000418404.3 - 2 296 c.133G>A c.(133-135)Gaa>Aaa p.E45K MYH13_ENST00000570743.1_Missense_Mutation_p.E45K|MYH13_ENST00000252172.4_Missense_Mutation_p.E45K Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 45 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 ACATACATTTCCTTATTATCC 0.448000 4 9 0 0 0.009096 0 0 TBC1D5 9779 broad.mit.edu 37 3 17202633 17202633 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:17202633G>A ENST00000253692.7 - 22 3874 c.2210C>T c.(2209-2211)cCt>cTt p.P737L TBC1D5_ENST00000429383.4_Missense_Mutation_p.P737L|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.P759L NM_014744.2 NP_055559.1 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 737 intracellular protein binding|Rab GTPase activator activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 36 GGTGCGAAGAGGCTGGGCCTG 0.592000 19 34 0 0 0.007413 0 0 RIC3 79608 broad.mit.edu 37 11 8132349 8132349 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:8132349C>T ENST00000396677.2 - 3 519 c.520G>A c.(520-522)Gaa>Aaa p.E174K RIC3_ENST00000343202.4_Missense_Mutation_p.E335K|RIC3_ENST00000539720.1_Missense_Mutation_p.E287K|RIC3_ENST00000309737.6_Missense_Mutation_p.E336K|RIC3_ENST00000425599.2_Missense_Mutation_p.E255K|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000335425.7_Missense_Mutation_p.E154K Q7Z5B4 RIC3_HUMAN RIC3 acetylcholine receptor chaperone 336 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) GACCACTCTTCTTTGGTGGTT 0.488000 19 93 0 0 0.008871 0 0 SPINK4 27290 broad.mit.edu 37 9 33240224 33240224 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:33240224G>A ENST00000379721.3 + 1 63 c.18G>A c.(16-18)tgG>tgA p.W6* SPINK4_ENST00000379723.1_Intron|SPINK4_ENST00000379725.1_Intron NM_014471.1 NP_055286.1 O60575 ISK4_HUMAN serine peptidase inhibitor, Kazal type 4 6 extracellular region serine-type endopeptidase inhibitor activity lung(1) 1 LUSC - Lung squamous cell carcinoma(29;0.00506) TCCGCCAGTGGGTAATCGCCC 0.607000 3 7 0 0 0.009096 0 0 DLG2 1740 broad.mit.edu 37 11 84028073 84028073 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:84028073C>T ENST00000280241.8 - 1 115 c.116G>A c.(115-117)aGg>aAg p.R39K DLG2_ENST00000398301.2_Missense_Mutation_p.R39K|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000543673.1_Intron NM_001206769.1 NP_001193698.1 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 0 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) CTGACAGTTCCTCTGCCAGCC 0.637000 17 102 0 0 0.007413 0 0 NALCN 259232 broad.mit.edu 37 13 101717769 101717769 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:101717769G>A ENST00000251127.6 - 40 4672 c.4591C>T c.(4591-4593)Cat>Tat p.H1531Y NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1531 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) AGGACATCATGGAAGGTGACG 0.557000 37 47 0 0 0.006999 0 0 ADAM7 8756 broad.mit.edu 37 8 24346778 24346778 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:24346778C>T ENST00000175238.6 + 12 1281 c.1198C>T c.(1198-1200)Cat>Tat p.H400Y RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.H172Y|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.H400Y NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 400 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) TTACAATTTTCATGATTTCCA 0.388000 9 31 0 0 0.006214 0 0 PKP2 5318 broad.mit.edu 37 12 32993999 32993999 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:32993999C>T ENST00000340811.4 - 6 1627 c.1519G>A c.(1519-1521)Gat>Aat p.D507N PKP2_ENST00000070846.6_Missense_Mutation_p.D551N NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 551 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) ATGTCAAAATCGAGCAAACCA 0.438000 88 68 0 0 0.014410 0 0 CEP350 9857 broad.mit.edu 37 1 180065016 180065016 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:180065016C>T ENST00000367607.3 + 35 9288 c.8870C>T c.(8869-8871)gCc>gTc p.A2957V CEP350_ENST00000490141.1_3'UTR NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 2957 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 CTTGGCTGTGCCAGTAAAGGT 0.363000 6 24 0 0 0.001168 0 0 AMPH 273 broad.mit.edu 37 7 38500990 38500990 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:38500990G>A ENST00000356264.2 - 11 1125 c.910C>T c.(910-912)Cca>Tca p.P304S AMPH_ENST00000428293.2_Missense_Mutation_p.P304S|AMPH_ENST00000325590.5_Missense_Mutation_p.P304S NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 304 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 GGTAGAGGTGGGACAGGAGGC 0.448000 42 84 0 0 0.014410 0 0 CEACAM18 729767 broad.mit.edu 37 19 51986462 51986462 + Nonsense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:51986462G>T ENST00000396477.4 + 4 886 c.865G>T c.(865-867)Gag>Tag p.E289* CEACAM18_ENST00000451626.1_Nonsense_Mutation_p.E350* NM_001278392.1 NP_001265321.1 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion molecule 18 350 Ig-like C2-type. integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TCTTGCCTGGGAGCAGATGGG 0.542000 35 59 4.3181e-19 4.74218e-19 0.013726 1 0 COL5A1 1289 broad.mit.edu 37 9 137697046 137697046 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:137697046C>T ENST00000371817.3 + 41 3658 c.3244C>T c.(3244-3246)Cca>Tca p.P1082S NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1082 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GCCCCCTGGCCCACCAGGCCC 0.597000 11 55 0 0 0.001855 0 0 BTNL8 79908 broad.mit.edu 37 5 180338455 180338455 + Missense_Mutation SNP G G A rs144589226 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:180338455G>A ENST00000231229.4 + 3 748 c.514G>A c.(514-516)Gga>Aga p.G172R BTNL8_ENST00000505126.1_5'UTR|BTNL8_ENST00000400707.3_Missense_Mutation_p.G47R|BTNL8_ENST00000340184.4_Missense_Mutation_p.G172R|BTNL8_ENST00000533815.2_5'UTR|BTNL8_ENST00000511704.1_Missense_Mutation_p.G56R|BTNL8_ENST00000508408.1_Missense_Mutation_p.G172R NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 172 Ig-like V-type 2. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 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;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGGTCCACAAGGACAGGATTT 0.532000 27 90 0 0 0.007291 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12812265 12812265 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:12812265A>T ENST00000379672.5 + 4 550 c.250A>T c.(250-252)Atc>Ttc p.I84F ARHGAP44_ENST00000262444.9_Missense_Mutation_p.I84F|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.I84F NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 84 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 GGGGTCAGCTATCCTGGGAGA 0.458000 71 64 0 0 0.014410 0 0 PPP1R3B 79660 broad.mit.edu 37 8 8999144 8999144 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:8999144G>A ENST00000310455.3 - 2 168 c.18C>T c.(16-18)atC>atT p.I6I RP11-10A14.3_ENST00000520017.1_RNA|PPP1R3B_ENST00000519699.1_Silent_p.I6I|RP11-10A14.3_ENST00000522057.1_RNA NM_001201329.1|NM_024607.3 NP_001188258.1|NP_078883.2 Q86XI6 PPR3B_HUMAN protein phosphatase 1, regulatory subunit 3B 6 glycogen metabolic process endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 12 COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241) ATCTGTACTCGATGTCCACAG 0.483000 12 14 0 0 0.001855 0 0 PDP1 54704 broad.mit.edu 37 8 94935465 94935465 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:94935465C>T ENST00000396200.3 + 3 1529 c.1253C>T c.(1252-1254)cCt>cTt p.P418L PDP1_ENST00000297598.4_Missense_Mutation_p.P393L|PDP1_ENST00000520728.1_Missense_Mutation_p.P393L|PDP1_ENST00000517764.1_Missense_Mutation_p.P393L NM_001161779.1 NP_001155251.1 Q9P0J1 PDP1_HUMAN pyruvate dehyrogenase phosphatase catalytic subunit 1 393 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 CACACACCTCCTTATCTCACT 0.443000 19 84 0 0 0.008871 0 0 TTN 7273 broad.mit.edu 37 2 179497712 179497712 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179497712C>T ENST00000589042.1 - 234 43370 c.43146G>A c.(43144-43146)ctG>ctA p.L14382L TTN_ENST00000460472.2_Silent_p.L5317L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.L5442L|TTN_ENST00000342992.6_Silent_p.L11814L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.L5509L|TTN_ENST00000591111.1_Silent_p.L12741L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12741 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) CTGTCATACCCAGCTGACAGT 0.423000 39 55 0 0 0.004878 0 0 LARGE 9215 broad.mit.edu 37 22 33733769 33733769 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:33733769G>A ENST00000354992.2 - 11 1721 c.1150C>T c.(1150-1152)Ccc>Tcc p.P384S LARGE_ENST00000402320.1_Intron|LARGE_ENST00000437602.2_Missense_Mutation_p.P384S|LARGE_ENST00000452586.2_Missense_Mutation_p.P183S|LARGE_ENST00000397394.2_Missense_Mutation_p.P384S|LARGE_ENST00000337431.2_Intron NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 384 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity p.P384S(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) AGCTTCTTGGGGGAGTTCCAG 0.552000 8 30 0 0 0.004482 0 0 CCDC39 339829 broad.mit.edu 37 3 180377491 180377491 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:180377491C>T ENST00000273654.4 - 11 1454 c.835G>A c.(835-837)Gaa>Aaa p.E279K CCDC39_ENST00000442201.2_Missense_Mutation_p.E195K Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 195 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TCTGTAAGTTCGTTGTCAAGT 0.308000 19 52 0 0 0.012319 0 0 MYH1 4619 broad.mit.edu 37 17 10412913 10412913 + Silent SNP G G A rs141597159 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:10412913G>A ENST00000226207.5 - 15 1570 c.1476C>T c.(1474-1476)ttC>ttT p.F492F CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 492 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.F492F(1) 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 TGTGGTGGTTGAAAAACTGTT 0.443000 35 24 0 0 0.003755 0 0 HSP90AB2P 391634 broad.mit.edu 37 4 13338463 13338463 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:13338463G>A ENST00000602906.1 + 0 448 kidney(3)|lung(1) 4 TTTTTAGGCTGGCGCAGACAT 0.448000 9 8 0 0 0.006214 0 0 ZPLD1 131368 broad.mit.edu 37 3 102153992 102153992 + Translation_Start_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:102153992G>A ENST00000466937.1 + 0 116 ZPLD1_ENST00000491959.1_Intron|ZPLD1_ENST00000306176.1_Missense_Mutation_p.D12N Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 CAGGGGAAATGATGAAGGTAA 0.368000 9 23 0 0 0.010729 0 0 ATP6V0A1 535 broad.mit.edu 37 17 40630587 40630587 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:40630587C>T ENST00000343619.4 + 7 736 c.613C>T c.(613-615)Ccc>Tcc p.P205S ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.P212S|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.P205S|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.P205S|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.P162S|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.P162S NM_001130021.1 NP_001123493.1 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 205 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3) 26 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) AATCGAGAACCCCCTGGAGGA 0.552000 16 20 0 0 0.006122 0 0 SEMA6C 10500 broad.mit.edu 37 1 151110475 151110475 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:151110475G>A ENST00000341697.3 - 9 2345 c.654C>T c.(652-654)tcC>tcT p.S218S Q9H3T2 SEM6C_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C 218 Sema. integral to membrane receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GGAGCCACTTGGAGTCATACT 0.617000 19 37 0 0 0.008871 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51630295 51630295 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:51630295G>A ENST00000440804.3 + 4 824 c.757G>A c.(757-759)Gtc>Atc p.V253I SIGLEC9_ENST00000250360.3_Missense_Mutation_p.V253I NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 253 Ig-like C2-type 2. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) AGTATCCACAGTCTTGGGAAA 0.502000 29 59 0 0 0.012213 0 0 DPP3 10072 broad.mit.edu 37 11 66254077 66254077 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:66254077C>T ENST00000532677.1 + 4 885 c.484C>T c.(484-486)Ctc>Ttc p.L162F DPP3_ENST00000453114.1_Missense_Mutation_p.L143F|DPP3_ENST00000531863.1_Missense_Mutation_p.L163F|DPP3_ENST00000360510.2_Missense_Mutation_p.L143F|DPP3_ENST00000530165.1_Missense_Mutation_p.L113F|DPP3_ENST00000541961.1_Missense_Mutation_p.L143F NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 143 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 AGTCAGGGGCCTCTGGCAGAC 0.617000 28 57 0 0 0.005443 0 0 PCDHB5 26167 broad.mit.edu 37 5 140517124 140517124 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140517124C>T ENST00000231134.5 + 1 2325 c.2108C>T c.(2107-2109)tCg>tTg p.S703L NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 703 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCCTCTTTTCGGTGCTCCTG 0.701000 22 65 0 0 0.012319 0 0 SLC2A2 6514 broad.mit.edu 37 3 170716153 170716153 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:170716153C>T ENST00000314251.3 - 10 1282 c.1203G>A c.(1201-1203)atG>atA p.M401I SLC2A2_ENST00000382808.4_Missense_Mutation_p.M282I NM_000340.1 NP_000331.1 P11168 GTR2_HUMAN solute carrier family 2 (facilitated glucose transporter), member 2 401 carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) AGATGGCTATCATGCTCACAT 0.443000 6 36 0 0 0.001168 0 0 EPHA7 2045 broad.mit.edu 37 6 93965749 93965749 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:93965749C>T ENST00000369303.4 - 13 2363 c.2179G>A c.(2179-2181)Gat>Aat p.D727N NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 727 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) AATTGCCCATCATGTTTCTGC 0.393000 14 20 0 0 0.001855 0 0 CD1B 910 broad.mit.edu 37 1 158299729 158299729 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:158299729C>T ENST00000368168.3 - 3 627 c.520G>A c.(520-522)Gaa>Aaa p.E174K NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 174 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) CTCACAGTTTCCATGATACCT 0.468000 35 64 0 0 0.003271 0 0 DICER1 23405 broad.mit.edu 37 14 95570178 95570178 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:95570178G>A ENST00000526495.1 - 23 3846 c.3555C>T c.(3553-3555)gcC>gcT p.A1185A DICER1_ENST00000343455.3_Silent_p.A1185A|DICER1_ENST00000556045.1_Silent_p.A83A|DICER1_ENST00000393063.1_Silent_p.A1185A|DICER1_ENST00000541352.1_Silent_p.A1185A|DICER1_ENST00000527414.1_Silent_p.A1185A Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1185 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) AACTGCCATTGGCGAGATTTT 0.423000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 28 38 0 0 0.007291 0 0 OR13C3 138803 broad.mit.edu 37 9 107298474 107298474 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:107298474G>A ENST00000374781.2 - 1 663 c.621C>T c.(619-621)ttC>ttT p.F207F NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 TTTCACATGCGAAATGATTGA 0.428000 25 45 0 0 0.005443 0 0 GNA11 2767 broad.mit.edu 37 19 3119228 3119228 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:3119228C>T ENST00000078429.4 + 6 1002 c.760C>T c.(760-762)Ctg>Ttg p.L254L AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR NM_002067.2 NP_002058.2 P29992 GNA11_HUMAN guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 254 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16) 161 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181) GAGCAAAGCCCTGTTCCGGAC 0.612000 Mis uveal melanoma 7 63 0 0 0.004482 0 0 CPNE5 57699 broad.mit.edu 37 6 36742771 36742771 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:36742771G>A ENST00000244751.2 - 10 1328 c.704C>T c.(703-705)cCc>cTc p.P235L NM_020939.1 NP_065990.1 Q9HCH3 CPNE5_HUMAN copine V 235 C2 2. central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GGCTCTCACGGGAATGGAGAA 0.517000 7 25 0 0 0.003080 0 0 GRM3 2913 broad.mit.edu 37 7 86468384 86468384 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:86468384G>A ENST00000361669.2 + 4 2653 c.1554G>A c.(1552-1554)atG>atA p.M518I GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.M110I|GRM3_ENST00000536043.1_Missense_Mutation_p.M390I NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 518 synaptic transmission integral to plasma membrane p.M518I(1) 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) CCAATGAAATGAAGAATATGC 0.522000 16 44 0 0 0.003163 0 0 TMEM252 169693 broad.mit.edu 37 9 71152396 71152396 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:71152396G>A ENST00000377311.3 - 2 344 c.292C>T c.(292-294)Cct>Tct p.P98S NM_153237.1 NP_694969.1 transmembrane protein 252 TAAGCTGGAGGGTAAAAGTCT 0.507000 18 20 0 0 0.007413 0 0 SRC 6714 broad.mit.edu 37 20 36028682 36028682 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:36028682G>A ENST00000373578.2 + 10 1373 c.1024G>A c.(1024-1026)Gag>Aag p.E342K SRC_ENST00000445403.1_Missense_Mutation_p.E342K|SRC_ENST00000373558.2_Missense_Mutation_p.E348K|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000360723.4_Missense_Mutation_p.E348K|SRC_ENST00000358208.4_Missense_Mutation_p.E342K|SRC_ENST00000373567.2_Missense_Mutation_p.E342K NM_198291.1 NP_938033.1 P12931 SRC_HUMAN v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog 342 Protein kinase. axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation caveola|cytosol|mitochondrial inner membrane ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) Dasatinib(DB01254) CATCGTCACGGAGTACATGAG 0.592000 8 23 0 0 0.010729 0 0 TADA1 117143 broad.mit.edu 37 1 166831521 166831521 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:166831521C>T ENST00000367874.4 - 5 552 c.459G>A c.(457-459)ggG>ggA p.G153G TADA1_ENST00000467021.1_5'UTR NM_053053.3 NP_444281.1 Q96BN2 TADA1_HUMAN transcriptional adaptor 1 153 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 11 CTATCATTCTCCCTTCAAGCT 0.507000 27 64 0 0 0.007291 0 0 PPP3R2 5535 broad.mit.edu 37 9 104356750 104356750 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:104356750C>T ENST00000374806.1 - 1 533 c.463G>A c.(463-465)Gaa>Aaa p.E155K GRIN3A_ENST00000361820.3_Intron NM_147180.2 NP_671709.1 Q96LZ3 CANB2_HUMAN protein phosphatase 3, regulatory subunit B, beta 152 EF-hand 4. calcium ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) GCACTGAATTCCTCAAAGGAT 0.507000 14 49 0 0 0.001855 0 0 ATP2A2 488 broad.mit.edu 37 12 110782764 110782764 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:110782764C>T ENST00000395494.2 + 16 3077 c.2514C>T c.(2512-2514)tcC>tcT p.S838S ATP2A2_ENST00000308664.6_Silent_p.S865S|ATP2A2_ENST00000539276.2_Silent_p.S865S P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 865 A -> P (in DD; severe form; petit mal epilepsy). ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 CAAGAGTGTCCTTCTACCAGC 0.502000 43 22 0 0 0.011902 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058366 152058366 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:152058366C>T ENST00000368806.1 - 3 1856 c.1792G>A c.(1792-1794)Gga>Aga p.G598R NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 598 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) CCAGGTGTTCCCTGCCTCTGG 0.552000 52 90 0 0 0.014410 0 0 AFF2 2334 broad.mit.edu 37 X 148037391 148037391 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:148037391G>A ENST00000370460.2 + 11 2295 c.1816G>A c.(1816-1818)Gaa>Aaa p.E606K AFF2_ENST00000342251.3_Missense_Mutation_p.E573K|AFF2_ENST00000286437.5_Missense_Mutation_p.E247K|AFF2_ENST00000370457.5_Missense_Mutation_p.E573K NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 606 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) GAAAATTCCAGAAACAAAGGC 0.468000 47 20 0 0 0.014410 0 0 KIAA0319 9856 broad.mit.edu 37 6 24596740 24596740 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:24596740G>A ENST00000535378.1 - 4 777 c.135C>T c.(133-135)gtC>gtT p.V45V KIAA0319_ENST00000537886.1_Silent_p.V54V|KIAA0319_ENST00000378214.3_Silent_p.V54V|KIAA0319_ENST00000543707.1_Silent_p.V54V|KIAA0319_ENST00000430948.2_Silent_p.V9V NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 54 MANSC. negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 TGCAGTCTACGACAGGGAAGG 0.577000 15 33 0 0 0.003163 0 0 MYOM2 9172 broad.mit.edu 37 8 2007281 2007281 + Missense_Mutation SNP G G C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:2007281G>C ENST00000262113.4 + 6 709 c.568G>C c.(568-570)Gat>Cat p.D190H MYOM2_ENST00000523438.1_Intron NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 190 Ig-like C2-type 1. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TAGGTACAAAGATGGCAGTCT 0.507000 10 34 0 0 0.006214 0 0 ACP6 51205 broad.mit.edu 37 1 147122015 147122015 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:147122015G>A ENST00000369238.5 - 8 1355 c.908C>T c.(907-909)cCa>cTa p.P303L ACP6_ENST00000460583.1_5'UTR NM_016361.3 NP_057445.4 Q9NPH0 PPA6_HUMAN acid phosphatase 6, lysophosphatidic 303 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) GTGGAGGAATGGGCCTACTGC 0.537000 17 27 0 0 0.004990 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217443 150217443 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:150217443G>A ENST00000313543.4 + 2 538 c.381G>A c.(379-381)atG>atA p.M127I NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 127 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGAAGCACATGGTCATCTTGT 0.512000 8 40 0 0 0.004482 0 0 TAT 6898 broad.mit.edu 37 16 71606461 71606461 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:71606461C>T ENST00000355962.4 - 5 672 c.539G>A c.(538-540)gGa>gAa p.G180E RP11-432I5.1_ENST00000561529.1_RNA NM_000353.2 NP_000344.1 P17735 ATTY_HUMAN tyrosine aminotransferase 180 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3) 29 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) GACCTCAATTCCCATAGACTC 0.388000 14 32 0 0 0.002450 0 0 SEC31B 25956 broad.mit.edu 37 10 102257790 102257790 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:102257790G>A ENST00000370345.3 - 15 1956 c.1859C>T c.(1858-1860)tCc>tTc p.S620F NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 620 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) AGTTACCGAGGAGATTTTGGT 0.527000 17 29 0 0 0.004990 0 0 PARP4 143 broad.mit.edu 37 13 25009566 25009566 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:25009566C>T ENST00000381989.3 - 31 3818 c.3713G>A c.(3712-3714)cGa>cAa p.R1238Q NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 1238 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) CCTATGTTTTCGTTTGGATAA 0.373000 10 47 0 0 0.006214 0 0 TG 7038 broad.mit.edu 37 8 133935696 133935696 + Missense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:133935696G>T ENST00000220616.4 + 22 4682 c.4642G>T c.(4642-4644)Ggg>Tgg p.G1548W TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1548 Thyroglobulin type-1 11. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GGACGGCGAGGGGCGGAGGCT 0.597000 15 42 7.05477e-17 7.74056e-17 0.004990 1 0 PTPRB 5787 broad.mit.edu 37 12 70963486 70963486 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:70963486C>T ENST00000334414.6 - 14 3647 c.3603G>A c.(3601-3603)ctG>ctA p.L1201L PTPRB_ENST00000451516.2_Silent_p.L893L|PTPRB_ENST00000550358.1_Silent_p.L1113L|PTPRB_ENST00000551525.1_Silent_p.L1200L|PTPRB_ENST00000261266.5_Silent_p.L983L|PTPRB_ENST00000550857.1_Silent_p.L893L|PTPRB_ENST00000538708.1_Silent_p.L983L NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 983 Fibronectin type-III 14. 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) TCTGATTCTTCAGGGACCCGC 0.517000 29 11 0 0 0.007291 0 0 DPYD 1806 broad.mit.edu 37 1 98348842 98348842 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:98348842C>T ENST00000370192.3 - 2 228 c.128G>A c.(127-129)aGa>aAa p.R43K DPYD_ENST00000306031.5_Missense_Mutation_p.R43K|DPYD_ENST00000423006.2_Intron NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 43 '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) ATCAGGATTTCTTTTCCAATG 0.383000 11 32 0 0 0.002450 0 0 CREB3L3 84699 broad.mit.edu 37 19 4157233 4157233 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:4157233C>T ENST00000078445.2 + 3 545 c.398C>T c.(397-399)tCc>tTc p.S133F CREB3L3_ENST00000602147.1_Missense_Mutation_p.S133F|CREB3L3_ENST00000602257.1_Missense_Mutation_p.S133F|CREB3L3_ENST00000595923.1_Missense_Mutation_p.S132F|CREB3L3_ENST00000252587.3_Missense_Mutation_p.S123F NM_001271995.1|NM_001271996.1|NM_032607.1 NP_001258924.1|NP_001258925.1|NP_115996.1 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 3 133 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3) 24 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) AACTCTTGCTCCACCACAACC 0.642000 23 64 0 0 0.003954 0 0 P2RY1 5028 broad.mit.edu 37 3 152553639 152553639 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:152553639C>T ENST00000305097.3 + 1 904 c.68C>T c.(67-69)tCg>tTg p.S23L NM_002563.3 NP_002554.1 P47900 P2RY1_HUMAN purinergic receptor P2Y, G-protein coupled, 1 23 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) GGTCCGGGTTCGTCCTGGGGG 0.657000 11 35 0 0 0.008291 0 0 TLR7 51284 broad.mit.edu 37 X 12905587 12905587 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:12905587G>A ENST00000380659.3 + 3 2099 c.1960G>A c.(1960-1962)Gaa>Aaa p.E654K NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 654 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) AAAATTAGAGGAATTAGACAT 0.348000 45 24 0 0 0.010771 0 0 PPFIA2 8499 broad.mit.edu 37 12 81678083 81678083 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:81678083C>T ENST00000550584.2 - 24 3221 c.e24-1 PPFIA2_ENST00000548586.1_Splice_Site|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000541570.2_Intron|PPFIA2_ENST00000550359.2_Splice_Site|PPFIA2_ENST00000549396.1_Splice_Site|PPFIA2_ENST00000552948.1_Intron|PPFIA2_ENST00000549325.1_Splice_Site|PPFIA2_ENST00000443686.3_Splice_Site|PPFIA2_ENST00000333447.7_Splice_Site|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000407050.4_Intron|PPFIA2_ENST00000545296.2_Intron NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TGCCTGAAGGCTAGTGAGGAG 0.473000 9 7 0 0 0.008291 0 0 CACNG3 10368 broad.mit.edu 37 16 24268270 24268270 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:24268270G>A ENST00000005284.3 + 1 1397 c.195G>A c.(193-195)agG>agA p.R65R NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 65 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 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) GGCTGTGGAGGACCTGCTGCC 0.428000 9 27 0 0 0.008291 0 0 COL4A1 1282 broad.mit.edu 37 13 110827673 110827673 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:110827673G>A ENST00000375820.4 - 37 3211 c.3090C>T c.(3088-3090)atC>atT p.I1030I NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1030 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GTGGGCCAGGGATGCCAGGCA 0.512000 20 26 0 0 0.008871 0 0 LRRC8C 84230 broad.mit.edu 37 1 90178523 90178523 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:90178523C>T ENST00000370454.4 + 3 649 c.394C>T c.(394-396)Ctc>Ttc p.L132F RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron NM_032270.4 NP_115646.2 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member C 132 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 28 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) TTACCTTGTCCTCATCCATAC 0.443000 16 86 0 0 0.003163 0 0 BMS1 9790 broad.mit.edu 37 10 43319084 43319084 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:43319084C>T ENST00000374518.4 + 21 3371 c.3308C>T c.(3307-3309)cCt>cTt p.P1103L NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 1103 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 ACTTGGTATCCTGTTTCCATC 0.408000 6 27 0 0 0.004482 0 0 PTGS1 5742 broad.mit.edu 37 9 125140749 125140749 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:125140749C>T ENST00000362012.2 + 4 254 c.249C>T c.(247-249)ccC>ccT p.P83P PTGS1_ENST00000540753.1_Silent_p.P58P|PTGS1_ENST00000373698.5_5'UTR|PTGS1_ENST00000223423.4_Silent_p.P83P NM_000962.2|NM_001271164.1|NM_080591.1 NP_000953.2|NP_001258093.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 83 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane 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 large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) CACTGCGGCCCAGCCCCTCTT 0.597000 32 81 0 0 0.013726 0 0 PRLR 5618 broad.mit.edu 37 5 35066041 35066041 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:35066041G>A ENST00000382002.5 - 10 1445 c.1019C>T c.(1018-1020)cCc>cTc p.P340L PRLR_ENST00000310101.5_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.P239L|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.P239L NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 340 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CAGGTATGTGGGTTTCATACC 0.493000 5 45 0 0 0.001984 0 0 ITGB3 3690 broad.mit.edu 37 17 45376679 45376679 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:45376679G>A ENST00000560629.1 + 11 1661 c.1661G>A c.(1660-1662)tGg>tAg p.W554* ITGB3_ENST00000559488.1_Missense_Mutation_p.G566S|ITGB3_ENST00000435993.2_Missense_Mutation_p.G519S P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 0 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) TTCAGGCCATGGCCAGTGCAG 0.607000 35 21 0 0 0.003755 0 0 MIR329-1 574408 broad.mit.edu 37 14 101493194 101493194 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:101493194C>T ENST00000385028.1 + 0 73 NR_029967.1 AACCTCTTTTCCAGTATCAAA 0.463000 21 45 0 0 0.010504 0 0 RYR1 6261 broad.mit.edu 37 19 39018290 39018290 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:39018290G>A ENST00000355481.4 + 72 10806 c.10675G>A c.(10675-10677)Gaa>Aaa p.E3559K RYR1_ENST00000359596.3_Missense_Mutation_p.E3564K|RYR1_ENST00000360985.3_Missense_Mutation_p.E3564K|AC067969.1_ENST00000597015.1_RNA NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3564 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) CCTTCAGGTCGAAGGCTCCCC 0.642000 13 31 0 0 0.004007 0 0 TBC1D8 11138 broad.mit.edu 37 2 101655105 101655105 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:101655105C>T ENST00000409318.1 - 7 1223 c.1093G>A c.(1093-1095)Gag>Aag p.E365K TBC1D8_ENST00000376840.4_Missense_Mutation_p.E350K NM_001102426.1 NP_001095896.1 O95759 TBCD8_HUMAN TBC1 domain family, member 8 (with GRAM domain) 350 blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 32 TCCATCTTCTCGATGCTCACC 0.557000 15 56 0 0 0.004990 0 0 KIAA1217 56243 broad.mit.edu 37 10 24802349 24802349 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:24802349C>T ENST00000376451.2 + 5 1472 c.1212C>T c.(1210-1212)atC>atT p.I404I KIAA1217_ENST00000396446.1_Silent_p.I404I|KIAA1217_ENST00000307544.6_Silent_p.I404I|KIAA1217_ENST00000430453.2_Silent_p.I607I|KIAA1217_ENST00000376454.3_Silent_p.I721I|KIAA1217_ENST00000396445.1_Silent_p.I404I|KIAA1217_ENST00000458595.1_Silent_p.I686I|KIAA1217_ENST00000376462.1_Silent_p.I641I|KIAA1217_ENST00000376452.3_Silent_p.I686I Q5T5P2 SKT_HUMAN KIAA1217 721 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 AAGAGAAGATCGTCAAGAAGT 0.463000 OREG0020076 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 23 0 0 0.003080 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39109260 39109260 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:39109260G>A ENST00000297668.6 - 15 2335 c.2262C>T c.(2260-2262)tcC>tcT p.S754S CNTNAP3_ENST00000358144.2_Silent_p.S666S|CNTNAP3_ENST00000377656.2_Silent_p.S753S NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 754 Fibrinogen C-terminal. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GCTCCTTTTGGGAAAGGACTA 0.463000 4 16 0 0 0.009096 0 0 VSTM4 196740 broad.mit.edu 37 10 50255039 50255039 + Nonsense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:50255039T>A ENST00000332853.3 - 7 849 c.826A>T c.(826-828)Aaa>Taa p.K276* NM_001031746.3 NP_001026916.2 Q8IW00 CJ072_HUMAN V-set and transmembrane domain containing 4 276 integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 AGCGTGACTTTTCTCTGTGGT 0.448000 52 141 0 0 0.014410 0 0 IGHV1-2 28474 broad.mit.edu 37 14 106452752 106452752 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:106452752G>A ENST00000390594.2 - 0 333 ACGTGTCCCTGGTCATGGTGA 0.552000 36 123 0 0 0.003755 0 0 SLC25A34 284723 broad.mit.edu 37 1 16063167 16063167 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:16063167G>A ENST00000294454.5 + 1 268 c.187G>A c.(187-189)Gca>Aca p.A63T RP11-288I21.1_ENST00000453804.1_RNA NM_207348.1 NP_997231.1 Q6PIV7 S2534_HUMAN solute carrier family 25, member 34 63 transport integral to membrane|mitochondrial inner membrane NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1) 9 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGTGGCCCGAGCAGACGGGCT 0.662000 7 26 0 0 0.003080 0 0 LY96 23643 broad.mit.edu 37 8 74922261 74922261 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:74922261C>T ENST00000284818.2 + 3 319 c.228C>T c.(226-228)ttC>ttT p.F76F LY96_ENST00000518893.1_Silent_p.F46F NM_015364.4 NP_056179.3 Q9Y6Y9 LY96_HUMAN lymphocyte antigen 96 76 cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway extracellular space|lipopolysaccharide receptor complex|plasma membrane coreceptor activity|lipopolysaccharide receptor activity|protein binding endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 Breast(64;0.0311) Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619) AATTATATTTCAATCTCTATA 0.323000 13 40 0 0 0.013537 0 0 SH3BGR 6450 broad.mit.edu 37 21 40847111 40847111 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr21:40847111C>T ENST00000333634.4 + 3 549 c.471C>T c.(469-471)ttC>ttT p.F157F SH3BGR_ENST00000458295.1_Silent_p.F46F|SH3BGR_ENST00000380631.1_Silent_p.F46F|SH3BGR_ENST00000380634.1_Silent_p.F46F|SH3BGR_ENST00000380637.3_Silent_p.F46F NM_007341.2 NP_031367.1 P55822 SH3BG_HUMAN SH3 domain binding glutamic acid-rich protein 157 protein complex assembly cytosol SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133) STAD - Stomach adenocarcinoma(101;0.00151) TTTATTCCTTCCTTGGTTTGG 0.378000 9 17 0 0 0.008291 0 0 MAGEL2 54551 broad.mit.edu 37 15 23889980 23889980 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:23889980C>T ENST00000532292.1 - 1 1195 c.1101G>A c.(1099-1101)tgG>tgA p.W367* NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) TCGGGCCCTCCCAGGCACTCA 0.662000 4 18 0 0 0.009096 0 0 NUBP2 10101 broad.mit.edu 37 16 1836800 1836800 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:1836800C>T ENST00000262302.9 + 3 298 c.178C>T c.(178-180)Cgc>Tgc p.R60C NUBP2_ENST00000565987.1_5'UTR|NUBP2_ENST00000565134.1_Missense_Mutation_p.R60C|NUBP2_ENST00000568706.1_Intron|NUBP2_ENST00000543305.1_Intron NM_012225.2 NP_036357.1 Q9Y5Y2 NUBP2_HUMAN nucleotide binding protein 2 60 microtubule organizing center|nucleus 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 CAGTATCCCCCGCATGCTCGG 0.701000 3 22 0 0 0.009096 0 0 HNF4G 3174 broad.mit.edu 37 8 76471140 76471140 + Silent SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:76471140A>C ENST00000396423.2 + 8 1085 c.961A>C c.(961-963)Agg>Cgg p.R321R HNF4G_ENST00000354370.1_Silent_p.R284R NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 284 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) CTCCCGGGGGAGGTTTGGAGA 0.448000 12 73 0 0 0.001855 0 0 LRP4 4038 broad.mit.edu 37 11 46897410 46897410 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:46897410C>T ENST00000378623.1 - 26 3886 c.3644G>A c.(3643-3645)gGa>gAa p.G1215E NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1215 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) CACAGTCAGTCCATTGGGCCA 0.602000 11 27 0 0 0.010729 0 0 VCAM1 7412 broad.mit.edu 37 1 101185425 101185425 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:101185425G>A ENST00000294728.2 + 1 110 c.9G>A c.(7-9)ggG>ggA p.G3G VCAM1_ENST00000347652.2_Silent_p.G3G|VCAM1_ENST00000370119.4_Silent_p.G3G|VCAM1_ENST00000370115.1_Silent_p.G3G NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 3 heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) AAATGCCTGGGAAGATGGTCG 0.413000 10 38 0 0 0.013537 0 0 OR10S1 219873 broad.mit.edu 37 11 123847434 123847434 + Missense_Mutation SNP C C T rs146618461 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:123847434C>T ENST00000531945.1 - 1 1054 c.965G>A c.(964-966)cGa>cAa p.R322Q NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 322 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 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;0.0399) TGTAGACTCTCGGAAGCTGCT 0.468000 17 23 0 0 0.004990 0 0 MRPL1 65008 broad.mit.edu 37 4 78873665 78873665 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:78873665C>T ENST00000315567.8 + 9 1211 c.882C>T c.(880-882)ttC>ttT p.F294F NM_020236.3 NP_064621.3 Q9BYD6 RM01_HUMAN mitochondrial ribosomal protein L1 294 RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1) 17 TACGTGCTTTCCTTCGTAGTT 0.358000 5 23 0 0 0.001984 0 0 HCN3 57657 broad.mit.edu 37 1 155255658 155255658 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:155255658C>T ENST00000368358.3 + 6 1388 c.1380C>T c.(1378-1380)tcC>tcT p.S460S HCN3_ENST00000496230.1_3'UTR NM_020897.1 NP_065948.1 Q9P1Z3 HCN3_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 3 460 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) GTGAGGGCTCCGTGGGGAGGA 0.637000 38 87 0 0 0.006999 0 0 ASIC3 9311 broad.mit.edu 37 7 150746440 150746440 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:150746440C>T ENST00000357922.4 + 1 1062 c.468C>T c.(466-468)tcC>tcT p.S156S ASIC3_ENST00000297512.8_Silent_p.S156S|ASIC3_ENST00000349064.5_Silent_p.S156S NM_020322.3 NP_064718.1 Q9UHC3 ACCN3_HUMAN acid-sensing (proton-gated) ion channel 3 156 sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity CTGGGCACTCCCTGGATGACA 0.657000 16 52 0 0 0.004990 0 0 MARC2 54996 broad.mit.edu 37 1 220935159 220935159 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:220935159C>T ENST00000366913.3 + 3 804 c.606C>T c.(604-606)ttC>ttT p.F202F MARC2_ENST00000359316.2_Silent_p.F202F NM_017898.3 NP_060368.2 Q969Z3 MOSC2_HUMAN mitochondrial amidoxime reducing component 2 202 MOSC. mitochondrial outer membrane|peroxisome molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding p.F202F(1) ATCAGAATTTCCAGGTGAGCT 0.428000 16 62 0 0 0.004990 0 0 FBLIM1 54751 broad.mit.edu 37 1 16095027 16095027 + Missense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:16095027C>A ENST00000375766.3 + 5 1083 c.443C>A c.(442-444)cCa>cAa p.P148Q FBLIM1_ENST00000375771.1_Missense_Mutation_p.P148Q|FBLIM1_ENST00000332305.5_Intron|FBLIM1_ENST00000400773.1_Intron|FBLIM1_ENST00000441801.2_Missense_Mutation_p.P148Q NM_017556.2 NP_060026.2 Q8WUP2 FBLI1_HUMAN filamin binding LIM protein 1 148 Pro-rich. cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle zinc ion binding large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 16 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138) CCACAGGCCCCAGCGGAGGGA 0.632000 18 29 4.96729e-08 5.41363e-08 0.008871 1 0 THBS1 7057 broad.mit.edu 37 15 39874870 39874870 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:39874870C>T ENST00000260356.5 + 3 709 c.544C>T c.(544-546)Ccc>Tcc p.P182S NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 182 TSP N-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) GTTGGACGTCCCCATCCAAAG 0.562000 9 19 0 0 0.008291 0 0 CD2 914 broad.mit.edu 37 1 117297327 117297327 + Missense_Mutation SNP C C T rs142374557 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:117297327C>T ENST00000369478.3 + 2 244 c.136C>T c.(136-138)Cct>Tct p.P46S CD2_ENST00000369477.1_Missense_Mutation_p.P46S NM_001767.3 NP_001758.2 P06729 CD2_HUMAN CD2 molecule 46 Ig-like V-type. blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) CTTGGACATTCCTAGTTTTCA 0.378000 21 39 0 0 0.014323 0 0 DSG3 1830 broad.mit.edu 37 18 29052370 29052370 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:29052370C>T ENST00000257189.4 + 13 2104 c.2021C>T c.(2020-2022)gCc>gTc p.A674V NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 674 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) ATTGAAGGAGCCCATCCTGAA 0.418000 13 32 0 0 0.013537 0 0 VASP 7408 broad.mit.edu 37 19 46021280 46021280 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:46021280C>T ENST00000245932.6 + 3 627 c.271C>T c.(271-273)Ctc>Ttc p.L91F VASP_ENST00000586619.1_3'UTR NM_003370.3 NP_003361.1 P50552 VASP_HUMAN vasodilator-stimulated phosphoprotein 91 WH1. axon guidance|cell junction assembly|T cell receptor signaling pathway actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane actin binding|profilin binding|SH3 domain binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2) 18 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154) GGTCTGGGGCCTCAACTTCGG 0.637000 15 47 0 0 0.006122 0 0 DDX10 1662 broad.mit.edu 37 11 108577504 108577504 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:108577504C>T ENST00000526794.1 + 10 1294 c.1262C>T c.(1261-1263)cCc>cTc p.P421L DDX10_ENST00000322536.3_Missense_Mutation_p.P421L Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 421 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) ATTTTGCTACCCTCAGAAAAA 0.343000 T NUP98 AML* 19 110 0 0 0.012319 0 0 TP53 7157 broad.mit.edu 37 17 7578453 7578453 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:7578453G>A ENST00000420246.2 - 5 609 c.477C>T c.(475-477)gcC>gcT p.A159A TP53_ENST00000359597.4_Silent_p.A159A|TP53_ENST00000413465.2_Silent_p.A159A|TP53_ENST00000455263.2_Silent_p.A159A|TP53_ENST00000269305.4_Silent_p.A159A|TP53_ENST00000445888.2_Silent_p.A159A NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 159 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.A159A(8)|p.R158fs(6)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.R26fs(2)|p.R65fs(2)|p.V157fs*9(2)|p.V157_C176del20(1)|p.T155_A161delTRVRAMA(1)|p.R156_A161delRVRAMA(1)|p.R156fs*18(1)|p.R156fs*20(1)|p.P151_V173del23(1)|p.V157_M160delVRAM(1)|p.V157_I162delVRAMAI(1)|p.R158fs*11(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(1)|p.R156_A161del(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGATGGCCATGGCGCGGACGC 0.632000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 27 0 0 0.012319 0 0 OR4N4 283694 broad.mit.edu 37 15 22383336 22383336 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:22383336C>T ENST00000328795.4 + 1 955 c.864C>T c.(862-864)acC>acT p.T288T RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TGATTTATACCCTTCGCAACC 0.403000 22 44 0 0 0.012319 0 0 LRRC7 57554 broad.mit.edu 37 1 70488881 70488881 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:70488881G>A ENST00000310961.5 + 18 1937 c.1519G>A c.(1519-1521)Gat>Aat p.D507N RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.D502N|LRRC7_ENST00000415775.2_Intron Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 502 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 ACTGTCTGGCGATTGCTGCAC 0.572000 17 39 0 0 0.004990 0 0 CES4A 283848 broad.mit.edu 37 16 67038103 67038103 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:67038103G>A ENST00000540947.2 + 9 1240 c.1056G>A c.(1054-1056)ctG>ctA p.L352L CES4A_ENST00000541479.1_Silent_p.L375L|CES4A_ENST00000540579.1_Silent_p.L254L|CES4A_ENST00000338718.4_Silent_p.L375L|CES4A_ENST00000535696.1_Silent_p.L258L|CES4A_ENST00000326686.5_Silent_p.L352L|CES4A_ENST00000398354.1_Silent_p.L352L NM_173815.6 NP_776176.5 Q5XG92 EST4A_HUMAN carboxylesterase 4A 352 extracellular region carboxylesterase activity large_intestine(2)|liver(2)|lung(4)|ovary(1) 9 TCAACAACCTGGAATTCAATT 0.512000 23 72 0 0 0.003330 0 0 CILP2 148113 broad.mit.edu 37 19 19656520 19656520 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:19656520G>A ENST00000586018.1 + 8 3286 c.3184G>A c.(3184-3186)Ggc>Agc p.G1062S CILP2_ENST00000291495.4_Missense_Mutation_p.G1056S Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 1056 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 AGACCCTCTGGGCCACAACTA 0.637000 4 20 0 0 0.000602 0 0 ACKR4 51554 broad.mit.edu 37 3 132319397 132319397 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:132319397C>T ENST00000249887.2 + 2 252 c.156C>T c.(154-156)ttC>ttT p.F52F ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000355458.3_Intron NM_016557.2|NM_178445.2 NP_057641.1|NP_848540.1 atypical chemokine receptor 4 CAATAGTTTTCGTCATTGGAC 0.383000 6 24 0 0 0.001984 0 0 TJP3 27134 broad.mit.edu 37 19 3728436 3728436 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:3728436G>A ENST00000541714.2 + 2 468 c.6G>A c.(4-6)gaG>gaA p.E2E TJP3_ENST00000382008.3_Silent_p.E2E|TJP3_ENST00000589378.1_Silent_p.E11E|TJP3_ENST00000587686.1_Silent_p.E21E|TJP3_ENST00000539908.2_Intron|TJP3_ENST00000262968.9_Silent_p.E21E NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 2 tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) CTGACATGGAGGAGCTGACCA 0.637000 6 22 0 0 0.001984 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555043 44555043 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:44555043C>T ENST00000330682.2 - 1 1406 c.1171G>A c.(1171-1173)Gaa>Aaa p.E391K KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 391 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 CTCCATAATTCATCTGTCTCT 0.572000 13 682 0 0 0.003163 0 0 NPAP1 23742 broad.mit.edu 37 15 24922969 24922969 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:24922969C>T ENST00000329468.2 + 1 2429 c.1955C>T c.(1954-1956)cCt>cTt p.P652L NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TTTGAGGCTCCTGATGGGCAG 0.502000 14 42 0 0 0.001855 0 0 ABCA13 154664 broad.mit.edu 37 7 48273745 48273745 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:48273745G>A ENST00000435803.1 + 8 918 c.894G>A c.(892-894)aaG>aaA p.K298K NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 298 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CTGAACTGAAGGAGGTACACA 0.527000 49 50 0 0 0.014410 0 0 GDF2 2658 broad.mit.edu 37 10 48414222 48414222 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:48414222G>A ENST00000249598.1 - 2 805 c.646C>T c.(646-648)Cgg>Tgg p.R216W NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 216 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 GAGTCGGACCGGACCCAGCGC 0.587000 13 38 0 0 0.004990 0 0 GSTA2 2939 broad.mit.edu 37 6 52617747 52617747 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:52617747G>A ENST00000493422.1 - 5 474 c.319C>T c.(319-321)Ctt>Ttt p.L107F NM_000846.4 NP_000837.3 P09210 GSTA2_HUMAN glutathione S-transferase alpha 2 107 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(77;0.118) Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163) GGCAGAAGAAGGATCATTTCA 0.368000 49 95 0 0 0.014410 0 0 ARAP1 116985 broad.mit.edu 37 11 72437979 72437979 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:72437979G>A ENST00000359373.5 - 3 1046 c.195C>T c.(193-195)ctC>ctT p.L65L ARAP1_ENST00000455638.2_Silent_p.L65L|ARAP1_ENST00000393609.3_Silent_p.L65L Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 65 SAM. 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 TATGGGCACGGAGCAGGCCAG 0.687000 81 148 0 0 0.014410 0 0 AFF2 2334 broad.mit.edu 37 X 147743594 147743594 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:147743594C>T ENST00000370460.2 + 3 825 c.346C>T c.(346-348)Cca>Tca p.P116S AFF2_ENST00000370458.1_Missense_Mutation_p.P112S|AFF2_ENST00000342251.3_Missense_Mutation_p.P112S|AFF2_ENST00000370457.5_Missense_Mutation_p.P112S NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 116 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) AAGCTTTTTTCCAGAACAAAA 0.393000 94 51 0 0 0.014410 0 0 CCDC170 80129 broad.mit.edu 37 6 151914339 151914339 + Missense_Mutation SNP G G A rs139998977 by1000genomes TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:151914339G>A ENST00000367290.5 + 8 1480 c.1391G>A c.(1390-1392)cGa>cAa p.R464Q CCDC170_ENST00000239374.7_Missense_Mutation_p.R464Q Q8IYT3 CF097_HUMAN coiled-coil domain containing 170 464 GTTTTAGCTCGAACAGAGCAG 0.448000 18 29 0 0 0.007413 0 0 PRNT 149830 broad.mit.edu 37 20 4713232 4713232 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:4713232G>A ENST00000326539.2 - 2 1028 c.91C>T c.(91-93)Ccc>Tcc p.P31S PRNT_ENST00000418528.1_Missense_Mutation_p.P31S|PRNT_ENST00000423718.2_Missense_Mutation_p.P31S endometrium(2)|lung(5) 7 ctagagaagggaagtctgaaa 0.443000 10 14 0 0 0.010729 0 0 ZNF662 389114 broad.mit.edu 37 3 42949559 42949559 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:42949559G>A ENST00000328199.6 + 2 322 c.136G>A c.(136-138)Gaa>Aaa p.E46K KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000541208.1_5'UTR|ZNF662_ENST00000422021.1_5'UTR|ZNF662_ENST00000440367.2_5'UTR NM_001134656.1 NP_001128128.1 Q6ZS27 ZN662_HUMAN zinc finger protein 662 0 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) CTCTGAGAACGAATGGATCGG 0.552000 6 40 0 0 0.001984 0 0 TNXB 7148 broad.mit.edu 37 6 32010358 32010358 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:32010358C>T ENST00000375244.3 - 40 12285 c.12084G>A c.(12082-12084)agG>agA p.R4028R TNXB_ENST00000451343.1_Silent_p.R457R|TNXB_ENST00000375247.2_Silent_p.R4026R P22105 TENX_HUMAN tenascin XB 4073 Fibronectin type-III 32. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CCCCGCAGTCCCTGGGGAAGG 0.682000 44 173 0 0 0.014410 0 0 PRUNE2 158471 broad.mit.edu 37 9 79325752 79325752 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:79325752C>T ENST00000428286.1 - 8 1561 c.361G>A c.(361-363)Gaa>Aaa p.E121K PRUNE2_ENST00000376718.3_Missense_Mutation_p.E480K Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 480 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CATGCATGTTCCTCCGCCACC 0.597000 8 15 0 0 0.008291 0 0 CAGE1 285782 broad.mit.edu 37 6 7355324 7355324 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:7355324G>A ENST00000502583.1 - 11 2883 c.2319C>T c.(2317-2319)atC>atT p.I773I CAGE1_ENST00000338150.4_Silent_p.I738I|CAGE1_ENST00000512086.1_Silent_p.I711I|CAGE1_ENST00000296742.7_Silent_p.I575I|CAGE1_ENST00000379918.4_Silent_p.I751I NM_001170692.1 NP_001164163.1 Q8TC20 CAGE1_HUMAN cancer antigen 1 711 breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1) 19 Ovarian(93;0.0418) CACATTCAATGATTTCTTCAT 0.289000 22 60 0 0 0.003954 0 0 SULF1 23213 broad.mit.edu 37 8 70517057 70517057 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:70517057G>A ENST00000260128.4 + 13 1984 c.1267G>A c.(1267-1269)Gaa>Aaa p.E423K SULF1_ENST00000419716.3_Missense_Mutation_p.E423K|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.E423K|SULF1_ENST00000458141.2_Missense_Mutation_p.E423K NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 423 apoptosis|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)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) ACGTAAGAAGGAAGAATCCAG 0.433000 18 38 0 0 0.007413 0 0 ZP4 57829 broad.mit.edu 37 1 238048545 238048545 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:238048545G>A ENST00000366570.4 - 9 1389 c.1231C>T c.(1231-1233)Ccc>Tcc p.P411S RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 411 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TGGTGAGAGGGAAATGGAAGA 0.542000 16 44 0 0 0.003163 0 0 VWC2L 402117 broad.mit.edu 37 2 215279299 215279299 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:215279299G>A ENST00000312504.5 + 2 1184 c.382G>A c.(382-384)Gaa>Aaa p.E128K AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_Missense_Mutation_p.E128K NM_001080500.2 NP_001073969.1 B2RUY7 VWC2L_HUMAN von Willebrand factor C domain containing protein 2-like 128 VWFC 2. extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1) 16 AATCTTGGAGGAATTTAAGGT 0.353000 5 27 0 0 0.000602 0 0 SIGLEC14 100049587 broad.mit.edu 37 19 52147157 52147157 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:52147157G>A ENST00000360844.6 - 5 928 c.887C>T c.(886-888)tCc>tTc p.S296F SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron NM_001098612.1 NP_001092082.1 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 296 Ig-like C2-type 2. cell adhesion integral to membrane|plasma membrane protein binding|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) TGAGGTCTGGGAAGGATTGAG 0.617000 5 61 0 0 0.001168 0 0 MUC16 94025 broad.mit.edu 37 19 9089986 9089986 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9089986G>A ENST00000397910.4 - 1 2032 c.1829C>T c.(1828-1830)tCa>tTa p.S610L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 610 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 TCCTGTCATTGAAATCCCAGT 0.537000 14 31 0 0 0.003163 0 0 PTPN7 5778 broad.mit.edu 37 1 202123389 202123389 + Silent SNP C C T rs147405290 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:202123389C>T ENST00000309017.3 - 6 1619 c.846G>A c.(844-846)tcG>tcA p.S282S PTPN7_ENST00000367279.4_Silent_p.S216S|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000308986.5_Silent_p.S177S|PTPN7_ENST00000543735.1_Silent_p.S6S|PTPN7_ENST00000544762.1_Intron NM_001199797.1|NM_002832.3 NP_001186726.1|NP_002823.3 P35236 PTN7_HUMAN protein tyrosine phosphatase, non-receptor type 7 177 Tyrosine-protein phosphatase. cytosol|internal side of plasma membrane protein binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1) 13 CCCAGAAGTCCGACACAGTGT 0.592000 15 33 0 0 0.004007 0 0 LIF 3976 broad.mit.edu 37 22 30640036 30640036 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:30640036C>T ENST00000403987.3 - 2 77 c.34G>A c.(34-36)Gga>Aga p.G12R LIF_ENST00000249075.3_Silent_p.G71G NM_001257135.1 NP_001244064.1 P15018 LIF_HUMAN leukemia inhibitory factor 7 immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding breast(1)|lung(3)|skin(3) 7 Epithelial(10;0.171) GGAACGGCTCCCCCTGggctg 0.647000 13 17 0 0 0.003163 0 0 THSD7B 80731 broad.mit.edu 37 2 137988647 137988647 + Missense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:137988647C>A ENST00000409968.1 + 8 1935 c.1757C>A c.(1756-1758)cCc>cAc p.P586H THSD7B_ENST00000272643.3_Missense_Mutation_p.P586H|THSD7B_ENST00000413152.2_Missense_Mutation_p.P555H|THSD7B_ENST00000543459.1_Intron 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) TGCCCAGTTCCCCCTCCTCCT 0.473000 8 27 0.000274275 0.000296823 0.004482 1 0 DOCK11 139818 broad.mit.edu 37 X 117718740 117718740 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:117718740G>A ENST00000276204.6 + 15 1712 c.1638G>A c.(1636-1638)ggG>ggA p.G546G DOCK11_ENST00000276202.7_Silent_p.G546G|DOCK11_ENST00000498252.1_3'UTR Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 546 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 ATCTGGATGGGAGATTTTCTC 0.338000 33 15 0 0 0.013726 0 0 GPX5 2880 broad.mit.edu 37 6 28501788 28501788 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:28501788C>T ENST00000412168.2 + 5 599 c.510C>T c.(508-510)tcC>tcT p.S170S GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_3'UTR NM_001509.2 NP_001500.1 O75715 GPX5_HUMAN glutathione peroxidase 5 (epididymal androgen-related protein) 170 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Glutathione(DB00143) AATCTATATCCTGGGACCCTG 0.493000 53 122 0 0 0.014410 0 0 MUC16 94025 broad.mit.edu 37 19 9071723 9071723 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9071723G>A ENST00000397910.4 - 3 15926 c.15723C>T c.(15721-15723)tcC>tcT p.S5241S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5243 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 GTGGCACTGTGGACTTATCAT 0.478000 38 74 0 0 0.006230 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072779 17072779 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:17072779C>T ENST00000359963.3 - 1 921 c.662G>A c.(661-663)gGg>gAg p.G221E NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 221 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TATTGCTAACCCCGGGAGGAG 0.592000 20 77 0 0 0.014323 0 0 PRSS12 8492 broad.mit.edu 37 4 119256771 119256771 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:119256771C>T ENST00000296498.3 - 3 959 c.677G>A c.(676-678)gGa>gAa p.G226E NM_003619.3 NP_003610.2 P56730 NETR_HUMAN protease, serine, 12 (neurotrypsin, motopsin) 226 SRCR 1. membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 29 AAGGCCCAGTCCAGAAAACGG 0.403000 25 22 0 0 0.007291 0 0 GSTM2 2946 broad.mit.edu 37 1 110212119 110212119 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:110212119C>T ENST00000369831.2 + 5 380 c.286C>T c.(286-288)Cgc>Tgc p.R96C GSTM2_ENST00000241337.4_Missense_Mutation_p.R96C|GSTM2_ENST00000369827.3_Missense_Mutation_p.R94C|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000442650.1_Missense_Mutation_p.R96C|GSTM2_ENST00000460717.3_Missense_Mutation_p.R96C|GSTM2_ENST00000464206.1_Intron|GSTM2_ENST00000369829.2_Missense_Mutation_p.R96C glutathione S-transferase mu 2 (muscle) kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2) 11 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227) GGAGCAGATTCGCGAAGACAT 0.562000 17 29 0 0 0.006122 0 0 DNAH10 196385 broad.mit.edu 37 12 124319972 124319972 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:124319972G>A ENST00000409039.3 + 27 4470 c.4445G>A c.(4444-4446)aGa>aAa p.R1482K NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1482 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity p.R74I(1)|p.R1482I(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TTGGTTCAGAGAAAATGGATG 0.378000 7 2 0 0 0.004482 0 0 OR1F1 4992 broad.mit.edu 37 16 3254555 3254555 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:3254555C>T ENST00000304646.2 + 1 309 c.309C>T c.(307-309)ttC>ttT p.F103F AJ003147.9_ENST00000576468.1_RNA NM_012360.1 NP_036492.1 O43749 OR1F1_HUMAN olfactory receptor, family 1, subfamily F, member 1 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(7) 11 AGATGTATTTCGTTTTCATGT 0.493000 34 110 0 0 0.006230 0 0 SERPINB7 8710 broad.mit.edu 37 18 61468132 61468132 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:61468132G>A ENST00000398019.2 + 7 955 c.630G>A c.(628-630)caG>caA p.Q210Q SERPINB7_ENST00000336429.2_Silent_p.Q210Q|SERPINB7_ENST00000540675.1_Silent_p.Q193Q|SERPINB7_ENST00000546027.1_Silent_p.Q210Q NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 210 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) TGATGCATCAGGAACGGAAGT 0.393000 26 53 0 0 0.008361 0 0 TGM4 7047 broad.mit.edu 37 3 44945376 44945376 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:44945376G>A ENST00000296125.4 + 9 1040 c.971_splice c.e9-1 p.W324_splice NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 324 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) TTTGCGGCAGGAATTTCCATG 0.597000 52 97 0 0 0.014410 0 0 NEB 4703 broad.mit.edu 37 2 152527697 152527697 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:152527697C>T ENST00000397345.3 - 38 4548 c.4346G>A c.(4345-4347)tGg>tAg p.W1449* NEB_ENST00000172853.10_Nonsense_Mutation_p.W1449*|NEB_ENST00000603639.1_Nonsense_Mutation_p.W1449*|NEB_ENST00000427231.2_Nonsense_Mutation_p.W1449*|NEB_ENST00000604864.1_Nonsense_Mutation_p.W1449*|NEB_ENST00000409198.1_Nonsense_Mutation_p.W1449* NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 1449 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) AATAGGGATCCATCCGATGCC 0.443000 9 18 0 0 0.008291 0 0 BTN2A2 10385 broad.mit.edu 37 6 26392647 26392647 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:26392647C>T ENST00000356709.4 + 8 1135 c.1024C>T c.(1024-1026)Ctg>Ttg p.L342L BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000416795.2_Silent_p.L342L|BTN2A2_ENST00000482536.1_Silent_p.L132L|BTN2A2_ENST00000352867.2_Silent_p.L226L|BTN2A2_ENST00000469230.1_Intron NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 342 B30.2/SPRY. negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 CGAGCTCTTCCTGTCAGAGGA 0.587000 22 49 0 0 0.012319 0 0 NELL1 4745 broad.mit.edu 37 11 21250883 21250883 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:21250883G>A ENST00000298925.5 + 15 1669 c.1516G>A c.(1516-1518)Gat>Aat p.D506N NELL1_ENST00000357134.5_Missense_Mutation_p.D478N|NELL1_ENST00000325319.5_Missense_Mutation_p.D421N|NELL1_ENST00000532434.1_Missense_Mutation_p.D478N Q92832 NELL1_HUMAN NEL-like 1 (chicken) 478 EGF-like 3. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 AACAGAACACGATGAATGTGG 0.463000 6 18 0 0 0.001984 0 0 SLC25A34 284723 broad.mit.edu 37 1 16063165 16063165 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:16063165G>A ENST00000294454.5 + 1 266 c.185G>A c.(184-186)cGa>cAa p.R62Q RP11-288I21.1_ENST00000453804.1_RNA NM_207348.1 NP_997231.1 Q6PIV7 S2534_HUMAN solute carrier family 25, member 34 62 transport integral to membrane|mitochondrial inner membrane NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1) 9 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCTGTGGCCCGAGCAGACGGG 0.662000 7 25 0 0 0.003080 0 0 GLI1 2735 broad.mit.edu 37 12 57865069 57865069 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:57865069C>T ENST00000228682.2 + 12 2637 c.2546C>T c.(2545-2547)tCc>tTc p.S849F GLI1_ENST00000546141.1_Missense_Mutation_p.S808F|GLI1_ENST00000543426.1_Missense_Mutation_p.S721F NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 849 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) CCTCTCTTTTCCCATTACCCC 0.617000 5 34 0 0 0.001168 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64602854 64602854 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:64602854C>T ENST00000342711.5 - 16 1917 c.1918G>A c.(1918-1920)Gag>Aag p.E640K NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 640 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 CGGTTTTCCTCCTGCAGCTGG 0.667000 83 236 0 0 0.014410 0 0 GPSM1 26086 broad.mit.edu 37 9 139232392 139232392 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:139232392C>T ENST00000440944.1 + 6 1012 c.792C>T c.(790-792)cgC>cgT p.R264R GPSM1_ENST00000392945.3_Silent_p.R264R NM_001145638.1 NP_001139110.1 Q86YR5 GPSM1_HUMAN G-protein signaling modulator 1 264 Mediates association with membranes (By similarity). cell differentiation|nervous system development|signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane binding|GTPase activator activity biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06) TCCTGGGGCGCTTTGACGTGG 0.647000 11 29 0 0 0.010729 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73149396 73149396 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:73149396G>A ENST00000286657.4 - 22 3111 c.3075C>T c.(3073-3075)tcC>tcT p.S1025S NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 1025 PLAC. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GACAGAATATGGACTTGTCTC 0.368000 14 25 0 0 0.003163 0 0 GSTA5 221357 broad.mit.edu 37 6 52699038 52699038 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:52699038C>T ENST00000370989.1 - 5 473 c.315G>A c.(313-315)atG>atA p.M105I GSTA5_ENST00000284562.2_Missense_Mutation_p.M105I|GSTA5_ENST00000475052.1_5'UTR Q7RTV2 GSTA5_HUMAN glutathione S-transferase alpha 5 105 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Lung NSC(77;0.0912) Glutathione(DB00143) GAAGAAGGATCATTTCAGTCA 0.368000 36 68 0 0 0.003271 0 0 C16orf62 57020 broad.mit.edu 37 16 19641139 19641139 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:19641139C>T ENST00000438132.3 + 18 1866 c.1818C>T c.(1816-1818)ttC>ttT p.F606F C16orf62_ENST00000542263.1_Silent_p.F539F|C16orf62_ENST00000251143.5_Silent_p.F517F|C16orf62_ENST00000543152.1_Silent_p.F266F|C16orf62_ENST00000448695.1_Silent_p.F367F|C16orf62_ENST00000417362.2_Silent_p.F450F NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 517 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 GCAAGCATTTCACGGTATGTG 0.348000 15 32 0 0 0.003163 0 0 ZBTB3 79842 broad.mit.edu 37 11 62520741 62520741 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:62520741C>T ENST00000394807.3 - 2 671 c.546G>A c.(544-546)aaG>aaA p.K182K NM_024784.3 NP_079060.1 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2) 24 TTTCCTCCTCCTTCTTGGTAC 0.547000 35 81 0 0 0.006230 0 0 ARAP1 116985 broad.mit.edu 37 11 72423318 72423318 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:72423318C>T ENST00000359373.5 - 7 1796 c.945G>A c.(943-945)atG>atA p.M315I ARAP1_ENST00000429686.1_Missense_Mutation_p.M70I|ARAP1_ENST00000426523.1_Missense_Mutation_p.M70I|ARAP1_ENST00000334211.8_Missense_Mutation_p.M70I|ARAP1_ENST00000455638.2_Missense_Mutation_p.M315I|ARAP1_ENST00000393609.3_Missense_Mutation_p.M315I|ARAP1_ENST00000393605.3_Missense_Mutation_p.M75I Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 315 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 GCGGCCCGTCCATGGGGTGTG 0.662000 114 253 0 0 0.014410 0 0 SRGAP3 9901 broad.mit.edu 37 3 9036102 9036102 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:9036102G>A ENST00000383836.3 - 19 2760 c.2333C>T c.(2332-2334)tCg>tTg p.S778L SRGAP3_ENST00000360413.3_Missense_Mutation_p.S754L NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 778 SH3. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) CCAGTCCTCCGAGGCGCGGTG 0.587000 T RAF1 pilocytic astrocytoma 36 46 0 0 0.004289 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86526867 86526867 + Missense_Mutation SNP C C G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:86526867C>G ENST00000450689.2 - 19 2825 c.2640G>C c.(2638-2640)gaG>gaC p.E880D KIAA1324L_ENST00000444627.1_Missense_Mutation_p.E809D|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.E713D|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.E640D NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 880 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) GGAAGTCATGCTCCGTACACA 0.473000 6 35 0 0 0.001984 0 0 KIAA0586 9786 broad.mit.edu 37 14 58895132 58895132 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:58895132T>C ENST00000354386.6 + 2 430 c.186T>C c.(184-186)aaT>aaC p.N62N KIAA0586_ENST00000423743.3_Intron|KIAA0586_ENST00000261244.5_Silent_p.N50N|KIAA0586_ENST00000556134.1_Silent_p.N35N NM_001244189.1 NP_001231118.1 E9PGW8 E9PGW8_HUMAN KIAA0586 50 endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TGTCTGCAAATAAACGTCTTC 0.403000 27 34 0 0 0.006320 0 0 ATP8B4 79895 broad.mit.edu 37 15 50211080 50211080 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:50211080G>A ENST00000284509.6 - 19 2132 c.1991C>T c.(1990-1992)tCa>tTa p.S664L ATP8B4_ENST00000559829.1_Missense_Mutation_p.S664L NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 664 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 p.S664L(1) 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) ATTGGCTAGTGATAAACTTGT 0.343000 13 51 0 0 0.006122 0 0 KCNT2 343450 broad.mit.edu 37 1 196397372 196397372 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:196397372C>T ENST00000367433.5 - 10 948 c.847G>A c.(847-849)Gag>Aag p.E283K KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.E283K|KCNT2_ENST00000367431.4_Missense_Mutation_p.E283K Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 283 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TTTTGTCTCTCCATCCACAAA 0.358000 22 49 0 0 0.004656 0 0 RFX6 222546 broad.mit.edu 37 6 117198604 117198604 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:117198604G>A ENST00000332958.2 + 1 182 c.166G>A c.(166-168)Gag>Aag p.E56K NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 56 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 GCCCGGGGGCGAGCAGGGCGG 0.667000 4 4 0 0 0.009096 0 0 VAV1 7409 broad.mit.edu 37 19 6833726 6833726 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:6833726C>T ENST00000304076.2 + 18 1807 c.1713C>T c.(1711-1713)ttC>ttT p.F571F VAV1_ENST00000539284.1_Silent_p.F474F|VAV1_ENST00000602142.1_Silent_p.F571F|VAV1_ENST00000599806.1_Silent_p.F516F|VAV1_ENST00000596764.1_Silent_p.F539F NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 571 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 CCGTAGATTTCCCAGGAACTA 0.537000 45 85 0 0 0.014410 0 0 TSIX 9383 broad.mit.edu 37 X 73040921 73040921 + RNA SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:73040921C>A ENST00000604411.1 + 0 28882 XIST_ENST00000429829.1_lincRNA NR_003255.2 TAATCCATTCCCCATCCCCAG 0.363000 8 5 0.000157383 0.000170414 0.003080 1 0 PCDHA7 56141 broad.mit.edu 37 5 140214295 140214295 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140214295C>T ENST00000525929.1 + 1 327 c.327C>T c.(325-327)atC>atT p.I109I PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.I109I|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGAGGTGATCGTGGAAAGGC 0.552000 35 152 0 0 0.005524 0 0 SORCS3 22986 broad.mit.edu 37 10 106974266 106974266 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:106974266G>A ENST00000369701.3 + 18 2669 c.2442G>A c.(2440-2442)caG>caA p.Q814Q SORCS3_ENST00000369699.4_Silent_p.Q100Q NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 814 integral to membrane neuropeptide receptor activity p.Q814H(2) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CCAAGGCCCAGATGTGCCCTG 0.547000 14 32 0 0 0.001855 0 0 C2orf16 84226 broad.mit.edu 37 2 27799442 27799442 + Translation_Start_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:27799442G>A ENST00000408964.2 + 1 54 c.3G>A c.(1-3)atG>atA p.M1I NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 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) TAAAACCTATGGAGCTGACAC 0.428000 6 9 0 0 0.001168 0 0 OR7G1 125962 broad.mit.edu 37 19 9226280 9226280 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9226280G>A ENST00000293614.1 - 1 159 c.160C>T c.(160-162)Cac>Tac p.H54Y OR7G1_ENST00000541538.1_Missense_Mutation_p.H54Y Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, member 1 54 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 GTGTGGAGGTGGGAGTCAGAG 0.493000 46 82 0 0 0.014410 0 0 DSC1 1823 broad.mit.edu 37 18 28737393 28737393 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:28737393C>T ENST00000257197.3 - 3 553 c.292G>A c.(292-294)Gat>Aat p.D98N RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.D98N NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 98 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) CTCTGACCATCTGAAAGGAAA 0.408000 13 21 0 0 0.013537 0 0 IVL 3713 broad.mit.edu 37 1 152882714 152882714 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:152882714G>A ENST00000368764.3 + 2 505 c.441G>A c.(439-441)atG>atA p.M147I IVL_ENST00000392667.2_Start_Codon_SNP_p.M1I P07476 INVO_HUMAN involucrin 147 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) AACTGGGAATGAAGAAAGAGC 0.532000 11 26 0 0 0.004007 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45457720 45457720 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:45457720G>A ENST00000548424.1 + 0 448 GAATCATGAGGAAAACCAATG 0.468000 24 26 0 0 0.004656 0 0 WIZ 58525 broad.mit.edu 37 19 15535062 15535062 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:15535062G>A ENST00000389282.4 - 9 4941 c.4728C>T c.(4726-4728)tcC>tcT p.S1576S WIZ_ENST00000263381.6_Silent_p.S719S|WIZ_ENST00000599910.1_Silent_p.S893S|WIZ_ENST00000599686.2_Silent_p.S760S|WIZ_ENST00000545156.1_Silent_p.S890S O95785 WIZ_HUMAN widely interspaced zinc finger motifs 1576 nucleus zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 24 GGGGCACCAGGGAGGGGACTG 0.662000 13 23 0 0 0.003163 0 0 MUC17 140453 broad.mit.edu 37 7 100685723 100685723 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:100685723C>T ENST00000306151.4 + 3 11090 c.11026C>T c.(11026-11028)Cct>Tct p.P3676S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3676 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) CAGTTCATCTCCTGTGACTCC 0.522000 45 95 0 0 0.014410 0 0 SYCP2L 221711 broad.mit.edu 37 6 10956473 10956473 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:10956473G>A ENST00000283141.6 + 25 2457 c.2161G>A c.(2161-2163)Gag>Aag p.E721K NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 721 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) AAGAAAATATGAGGTAGTAGT 0.383000 4 14 0 0 0.009096 0 0 NYAP2 57624 broad.mit.edu 37 2 226516185 226516185 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:226516185G>A ENST00000272907.6 + 6 2279 c.1866G>A c.(1864-1866)tcG>tcA p.S622S NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 622 GGTCTGCGTCGACGTCAGGTG 0.493000 15 124 0 0 0.003163 0 0 SLC26A9 115019 broad.mit.edu 37 1 205902072 205902072 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:205902072C>T ENST00000367135.3 - 3 379 c.e3+1 SLC26A9_ENST00000367134.2_Splice_Site|SLC26A9_ENST00000340781.4_Splice_Site NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) AGCCCCTTCACCTTGTGGGAC 0.572000 11 19 0 0 0.008291 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209955417 209955417 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:209955417G>A ENST00000367024.1 + 17 2096 c.1580G>A c.(1579-1581)tGg>tAg p.W527* TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.M138I|TRAF3IP3_ENST00000367025.3_Nonsense_Mutation_p.W527*|TRAF3IP3_ENST00000010338.4_Nonsense_Mutation_p.W507*|TRAF3IP3_ENST00000367026.3_Nonsense_Mutation_p.W507*|TRAF3IP3_ENST00000467830.1_3'UTR Q9Y228 T3JAM_HUMAN TRAF3 interacting protein 3 527 integral to membrane protein binding breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) TGTGGGCGATGGCTCCCAGTG 0.483000 30 64 0 0 0.010818 0 0 KALRN 8997 broad.mit.edu 37 3 124153247 124153247 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:124153247G>A ENST00000360013.3 + 17 3044 c.2917G>A c.(2917-2919)Gat>Aat p.D973N KALRN_ENST00000460856.1_Missense_Mutation_p.D964N|KALRN_ENST00000240874.3_Missense_Mutation_p.D973N NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 973 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 CGGCCACTACGATGCCGATGC 0.582000 13 25 0 0 0.001855 0 0 UBE4B 10277 broad.mit.edu 37 1 10182103 10182103 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:10182103C>T ENST00000377157.3 + 9 1849 c.788C>T c.(787-789)aCc>aTc p.T263I UBE4B_ENST00000343090.6_Missense_Mutation_p.T508I|UBE4B_ENST00000253251.8_Missense_Mutation_p.T379I|UBE4B_ENST00000475795.1_3'UTR NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 508 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) CTGGTGAGAACCACTCACCAG 0.488000 27 53 0 0 0.009535 0 0 LRP3 4037 broad.mit.edu 37 19 33697953 33697953 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:33697953C>T ENST00000253193.7 + 7 1987 c.1785C>T c.(1783-1785)tcC>tcT p.S595S NM_002333.3 NP_002324.2 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 3 595 receptor-mediated endocytosis coated pit|integral to membrane receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2) 15 Esophageal squamous(110;0.137) GGCACGCCTcccgccgggggc 0.731000 3 2 0 0 0.004672 0 0 KRT4 3851 broad.mit.edu 37 12 53200947 53200947 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:53200947G>A ENST00000551956.1 - 9 1961 c.1469C>T c.(1468-1470)tCc>tTc p.S490F KRT4_ENST00000458244.2_Missense_Mutation_p.S470F|KRT4_ENST00000293774.4_Missense_Mutation_p.S564F B4DRS2 B4DRS2_HUMAN keratin 4 490 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 TCCAGAGCCGGAGCCAAAGCC 0.562000 27 20 0 0 0.009535 0 0 DMBT1 1755 broad.mit.edu 37 10 124348470 124348470 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:124348470C>T ENST00000338354.3 + 17 1900 c.1794C>T c.(1792-1794)tcC>tcT p.S598S DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368909.3_Silent_p.S598S|DMBT1_ENST00000368955.3_Silent_p.S588S|DMBT1_ENST00000344338.3_Silent_p.S588S|DMBT1_ENST00000359586.6_Intron Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 598 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) GACCTGAATCCAGTTTGGCCC 0.547000 39 124 0 0 0.006999 0 0 WFDC8 90199 broad.mit.edu 37 20 44190850 44190850 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:44190850G>A ENST00000357199.4 - 2 113 c.35C>T c.(34-36)cCt>cTt p.P12L WFDC8_ENST00000289953.2_Missense_Mutation_p.P12L NM_181510.2 NP_852611.2 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 12 extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1) 15 Myeloproliferative disorder(115;0.0122) GCTATGGAGAGGAAAGTGCCT 0.498000 9 12 0 0 0.004482 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795459 142795459 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:142795459G>A ENST00000370498.1 - 2 972 c.219C>T c.(217-219)tcC>tcT p.S73S NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 73 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) AGTTCTCTCGGGACTGGTCCT 0.433000 85 49 0 0 0.014410 0 0 CD163L1 283316 broad.mit.edu 37 12 7559320 7559320 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:7559320C>T ENST00000313599.3 - 5 952 c.895G>A c.(895-897)Gta>Ata p.V299I CD163L1_ENST00000396630.1_Missense_Mutation_p.V299I|CD163L1_ENST00000416109.2_Missense_Mutation_p.V309I Q9NR16 C163B_HUMAN CD163 molecule-like 1 299 SRCR 3. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 TGCTTGCATACGACATCAGCT 0.522000 45 21 0 0 0.008740 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84651420 84651420 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:84651420G>A ENST00000286744.5 + 21 3264 c.3040G>A c.(3040-3042)Gaa>Aaa p.E1014K ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E1014K NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 1014 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) GCCTATGAGGGAATATCCTGG 0.507000 11 48 0 0 0.010729 0 0 ECT2L 345930 broad.mit.edu 37 6 139170409 139170409 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:139170409G>A ENST00000423192.1 + 8 1068 c.907G>A c.(907-909)Gtg>Atg p.V303M ECT2L_ENST00000367682.2_Missense_Mutation_p.V303M|ECT2L_ENST00000541398.1_Missense_Mutation_p.V234M Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 oncogene-like 303 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 TCTCCAGATGGTGATGGAGAG 0.393000 """N, Splice, Mis""" ETP ALL 49 60 0 0 0.014410 0 0 COL11A1 1301 broad.mit.edu 37 1 103444982 103444982 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:103444982C>T ENST00000358392.2 - 32 2919 c.2602G>A c.(2602-2604)Gga>Aga p.G868R COL11A1_ENST00000353414.4_Missense_Mutation_p.G817R|COL11A1_ENST00000370096.3_Missense_Mutation_p.G856R|COL11A1_ENST00000512756.1_Missense_Mutation_p.G740R NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 856 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCAGGGAATCCAGTGGAACCC 0.338000 9 22 0 0 0.006214 0 0 CTAGE1 64693 broad.mit.edu 37 18 19997481 19997481 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:19997481C>T ENST00000391403.2 - 1 397 c.294G>A c.(292-294)gaG>gaA p.E98E NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 98 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) CGCAGGTTGCCTCCAAACTTT 0.373000 33 148 0 0 0.003755 0 0 TJP2 9414 broad.mit.edu 37 9 71845108 71845108 + Missense_Mutation SNP C C G rs142684074 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:71845108C>G ENST00000377245.4 + 11 1839 c.1631C>G c.(1630-1632)gCg>gGg p.A544G TJP2_ENST00000453658.2_Missense_Mutation_p.A521G|TJP2_ENST00000348208.4_Missense_Mutation_p.A544G|TJP2_ENST00000265384.7_Missense_Mutation_p.A544G|TJP2_ENST00000535702.1_Missense_Mutation_p.A548G|TJP2_ENST00000539225.1_Missense_Mutation_p.A575G NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 544 PDZ 3. cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 GGGACCTCGGCGGAGCAGGAG 0.512000 22 42 0 0 0.004656 0 0 PADI3 51702 broad.mit.edu 37 1 17603042 17603042 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:17603042G>A ENST00000375460.3 + 12 1376 c.1336G>A c.(1336-1338)Gtg>Atg p.V446M NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 446 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 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;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) CACCCAGGTGGTGCGGGACTT 0.532000 32 60 0 0 0.012213 0 0 PTPRB 5787 broad.mit.edu 37 12 70933413 70933413 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:70933413C>T ENST00000334414.6 - 26 5814 c.5770G>A c.(5770-5772)Gaa>Aaa p.E1924K PTPRB_ENST00000451516.2_Missense_Mutation_p.E1616K|PTPRB_ENST00000550358.1_Missense_Mutation_p.E1836K|PTPRB_ENST00000261266.5_Missense_Mutation_p.E1706K|PTPRB_ENST00000550857.1_Missense_Mutation_p.E1616K|PTPRB_ENST00000538708.1_Missense_Mutation_p.E1616K NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1706 Tyrosine-protein phosphatase. 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) ACCTCGTATTCCTTGGATAGA 0.383000 5 4 0 0 0.001168 0 0 GALNT13 114805 broad.mit.edu 37 2 155295165 155295165 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:155295165G>A ENST00000392825.3 + 12 2024 c.1457G>A c.(1456-1458)aGa>aAa p.R486K GALNT13_ENST00000409237.1_Missense_Mutation_p.R486K|AC009227.2_ENST00000434635.1_RNA|GALNT13_ENST00000487047.1_3'UTR NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 486 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 GATGTTTCTAGACTCAATGGA 0.318000 27 33 0 0 0.009535 0 0 DGKB 1607 broad.mit.edu 37 7 14613992 14613992 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:14613992C>T ENST00000403951.2 - 20 2037 c.1618G>A c.(1618-1620)Gaa>Aaa p.E540K DGKB_ENST00000407950.1_Missense_Mutation_p.E532K|DGKB_ENST00000406247.3_Missense_Mutation_p.E540K|DGKB_ENST00000402815.1_Missense_Mutation_p.E539K|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Missense_Mutation_p.E540K|DGKB_ENST00000444700.2_Missense_Mutation_p.E521K|DGKB_ENST00000399322.3_Missense_Mutation_p.E540K Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 540 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) TTCTCACCTTCGTAACCTAGT 0.323000 25 57 0 0 0.004656 0 0 OR2D2 120776 broad.mit.edu 37 11 6912927 6912927 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:6912927C>T ENST00000299459.2 - 1 903 c.805G>A c.(805-807)Gaa>Aaa p.E269K NM_003700.1 NP_003691.1 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, member 2 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 18 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ACCGATTTTTCCTGCTGTTTG 0.438000 13 31 0 0 0.001855 0 0 UGT1A8 54576 broad.mit.edu 37 2 234527080 234527080 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:234527080G>A ENST00000373450.4 + 1 790 c.727G>A c.(727-729)Gat>Aat p.D243N NM_019076.4 NP_061949.3 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008) CACAGCATATGATCTCTACAG 0.408000 68 107 0 0 0.014410 0 0 MSH3 4437 broad.mit.edu 37 5 80064787 80064787 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:80064787C>T ENST00000265081.6 + 15 2298 c.2218C>T c.(2218-2220)Cct>Tct p.P740S NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 740 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) ACTAAAAAATCCTTCTGCACA 0.313000 Mismatch excision repair (MMR) 5 32 0 0 0.001168 0 0 PTPN22 26191 broad.mit.edu 37 1 114372236 114372236 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:114372236C>T ENST00000359785.5 - 18 2363 c.2228G>A c.(2227-2229)gGa>gAa p.G743E PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000538253.1_Missense_Mutation_p.G499E|PTPN22_ENST00000528414.1_Missense_Mutation_p.G688E|PTPN22_ENST00000525799.1_Missense_Mutation_p.G616E|PTPN22_ENST00000420377.2_Missense_Mutation_p.G743E NM_001193431.1|NM_015967.5 NP_001180360.1|NP_057051.3 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 743 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAAACTTTTTCCAGGAGTCTT 0.393000 30 76 0 0 0.008361 0 0 ANGPT1 284 broad.mit.edu 37 8 108306175 108306175 + Nonsense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:108306175C>A ENST00000520734.1 - 5 712 c.427G>T c.(427-429)Gaa>Taa p.E143* ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Nonsense_Mutation_p.E142* Q15389 ANGP1_HUMAN angiopoietin 1 343 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) ATTTTATATTCCTTCCAGCCT 0.358000 22 47 1.22574e-08 1.33757e-08 0.014323 1 0 SLCO1B1 10599 broad.mit.edu 37 12 21331569 21331569 + Missense_Mutation SNP C C T rs138965366 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:21331569C>T ENST00000256958.2 + 6 637 c.541C>T c.(541-543)Cgt>Tgt p.R181C NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 181 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity p.R181C(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) TAATATGCTTCGTGGAATAGG 0.348000 21 42 0 0 0.002780 0 0 IFNE 338376 broad.mit.edu 37 9 21481607 21481607 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:21481607G>A ENST00000448696.3 - 1 705 c.87C>T c.(85-87)ttC>ttT p.F29F MIR31HG_ENST00000304425.3_RNA NM_176891.4 NP_795372.1 Q86WN2 IFNE_HUMAN interferon, epsilon 29 defense response|response to virus extracellular space cytokine activity|cytokine receptor binding large_intestine(2)|lung(1)|skin(1) 4 GTCTTTGCTGGAAGATAATCA 0.388000 7 36 0 0 0.003080 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887352 12887352 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:12887352C>T ENST00000535591.1 - 3 700 c.505G>A c.(505-507)Gag>Aag p.E169K NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 169 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ACTTCCACCTCCTGGATACAG 0.463000 112 269 0 0 0.014410 0 0 SHROOM4 57477 broad.mit.edu 37 X 50376915 50376915 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:50376915C>T ENST00000376020.2 - 4 2183 c.2158G>A c.(2158-2160)Gga>Aga p.G720R SHROOM4_ENST00000289292.7_Missense_Mutation_p.G720R|SHROOM4_ENST00000460112.3_Missense_Mutation_p.G604R NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 720 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) CCACGGACTCCACAGTGAGCA 0.577000 8 11 0 0 0.004482 0 0 TTN 7273 broad.mit.edu 37 2 179395823 179395823 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179395823G>A ENST00000589042.1 - 358 105743 c.105519C>T c.(105517-105519)gcC>gcT p.A35173A TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000460472.2_Silent_p.A26108A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.A26233A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Silent_p.A32605A|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.A26300A|TTN_ENST00000591111.1_Silent_p.A33532A|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33532 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) CTTGGTGGCGGGCAGAAGTAC 0.512000 33 164 0 0 0.003755 0 0 SLC9A2 6549 broad.mit.edu 37 2 103236460 103236460 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:103236460C>T ENST00000233969.2 + 1 295 c.153C>T c.(151-153)agC>agT p.S51S NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 51 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 GCCCGCCTAGCCCTGCGAGCG 0.677000 9 7 0 0 0.006214 0 0 IFI44 10561 broad.mit.edu 37 1 79129455 79129455 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:79129455C>T ENST00000370747.4 + 9 1379 c.1294C>T c.(1294-1296)Cta>Tta p.L432L IFI44_ENST00000495254.1_3'UTR NM_006417.4 NP_006408.3 Q8TCB0 IFI44_HUMAN interferon-induced protein 44 432 response to virus cytoplasm central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 CTCAGGGAATCTAAGGGAGGA 0.363000 9 33 0 0 0.008291 0 0 SLC22A3 6581 broad.mit.edu 37 6 160829918 160829918 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:160829918C>T ENST00000392145.1 + 4 849 c.822C>T c.(820-822)atC>atT p.I274I SLC22A3_ENST00000275300.2_Silent_p.I274I O75751 S22A3_HUMAN solute carrier family 22 (organic cation transporter), member 3 274 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) AGTTAGCCATCACGCTGCCCA 0.408000 11 28 0 0 0.001855 0 0 ANXA13 312 broad.mit.edu 37 8 124748070 124748070 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:124748070C>T ENST00000262219.6 - 2 130 c.63G>A c.(61-63)ggG>ggA p.G21G ANXA13_ENST00000419625.1_Intron NM_001003954.1 NP_001003954.1 P27216 ANX13_HUMAN annexin A13 0 cell differentiation plasma membrane calcium ion binding|calcium-dependent phospholipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 25 Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00288) GTTGGGAGTCCCCTTTAGGCA 0.517000 28 57 0 0 0.006320 0 0 FKBP6 8468 broad.mit.edu 37 7 72743446 72743446 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:72743446G>A ENST00000252037.4 + 3 328 c.259G>A c.(259-261)Gga>Aga p.G87R FKBP6_ENST00000431982.2_Missense_Mutation_p.G82R|FKBP6_ENST00000413573.2_Intron NM_003602.3 NP_003593.3 O75344 FKBP6_HUMAN FK506 binding protein 6, 36kDa 87 PPIase FKBP-type. protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 16 Lung NSC(55;0.0908)|all_lung(88;0.198) AATGAAACTTGGAGAGGGTAG 0.483000 35 53 0 0 0.012213 0 0 FSHR 2492 broad.mit.edu 37 2 49190763 49190763 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:49190763G>A ENST00000406846.2 - 10 1316 c.1197C>T c.(1195-1197)ttC>ttT p.F399F FSHR_ENST00000346173.3_Silent_p.F337F|FSHR_ENST00000304421.4_Silent_p.F373F|FSHR_ENST00000541117.1_Silent_p.F135F NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 399 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TGCACATAAGGAACCTGGGGA 0.453000 Gonadal Dysgenesis, 46 XX 20 32 0 0 0.012319 0 0 C8A 731 broad.mit.edu 37 1 57373655 57373655 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:57373655G>A ENST00000361249.3 + 9 1345 c.1249G>A c.(1249-1251)Gaa>Aaa p.E417K NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 417 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 CATGGCTGTGGAAGACATTAT 0.517000 15 36 0 0 0.004007 0 0 IGKV1-27 28935 broad.mit.edu 37 2 89513063 89513063 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:89513063G>A ENST00000498435.1 - 0 226 AGGAGCTTAGGAACTTTCCCT 0.512000 31 100 0 0 0.004878 0 0 PASK 23178 broad.mit.edu 37 2 242078169 242078169 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:242078169G>A ENST00000403638.3 - 5 732 c.641C>T c.(640-642)tCt>tTt p.S214F PASK_ENST00000234040.4_Missense_Mutation_p.S214F|PASK_ENST00000544142.1_Missense_Mutation_p.S28F|PASK_ENST00000539818.1_5'UTR|PASK_ENST00000358649.4_Missense_Mutation_p.S214F|PASK_ENST00000405260.1_Missense_Mutation_p.S214F NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 214 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) CATCCACACAGACACTGGAAT 0.582000 20 27 0 0 0.008871 0 0 MYH8 4626 broad.mit.edu 37 17 10298471 10298471 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:10298471C>T ENST00000403437.2 - 34 5035 c.4941G>A c.(4939-4941)agG>agA p.R1647R CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1647 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 CTTGGGTGTTCCTGTAGTTCC 0.458000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 86 67 0 0 0.014410 0 0 GALNT5 11227 broad.mit.edu 37 2 158156154 158156154 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:158156154G>A ENST00000259056.4 + 6 2577 c.2092G>A c.(2092-2094)Gaa>Aaa p.E698K NM_014568.1 NP_055383.1 Q7Z7M9 GALT5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) 698 Catalytic subdomain B. glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 TTGGGGTGGGGAAAATATGGA 0.378000 12 31 0 0 0.002450 0 0 TTN 7273 broad.mit.edu 37 2 179590608 179590608 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179590608A>T ENST00000589042.1 - 70 20665 c.20441T>A c.(20440-20442)tTc>tAc p.F6814Y RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.F5570Y|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.F6497Y NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6497 Ig-like 49. 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) ACTTGTGTGGAAGTTTTTGGA 0.428000 11 23 0 0 0.008291 0 0 GRIK3 2899 broad.mit.edu 37 1 37285336 37285336 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:37285336C>T ENST00000373091.3 - 12 1890 c.e12+1 GRIK3_ENST00000373093.4_Splice_Site NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) AGGGTGCATACCTTGCTGCAT 0.572000 7 20 0 0 0.004482 0 0 OTOGL 283310 broad.mit.edu 37 12 80752495 80752495 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:80752495G>A ENST00000458043.2 + 50 6145 c.6139G>A c.(6139-6141)Gaa>Aaa p.E2047K OTOGL_ENST00000546620.1_Missense_Mutation_p.E66K|OTOGL_ENST00000547103.1_Missense_Mutation_p.E2035K NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 CAACTGTGCAGAAGATATGAA 0.318000 14 13 0 0 0.006122 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52003378 52003378 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:52003378G>A ENST00000291707.3 - 2 659 c.604C>T c.(604-606)Cca>Tca p.P202S SIGLEC12_ENST00000598614.1_Missense_Mutation_p.P84S NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 202 Ig-like V-type 2. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) GTGGCCACTGGAATATCCCAT 0.537000 40 71 0 0 0.006230 0 0 OR51B2 79345 broad.mit.edu 37 11 5345396 5345396 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:5345396G>A ENST00000328813.2 - 1 186 c.132C>T c.(130-132)ctC>ctT p.L44L HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_033180.4 NP_149420.4 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, member 2 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L44L(1) NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGATGAGGTAGAGGAGCATGC 0.527000 23 66 0 0 0.014323 0 0 PALD1 27143 broad.mit.edu 37 10 72292515 72292515 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:72292515C>T ENST00000263563.6 + 6 1040 c.772C>T c.(772-774)Ctc>Ttc p.L258F NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 CAAGCGGCCCCTCTTCCTGCA 0.627000 17 55 0 0 0.006122 0 0 DNAH5 1767 broad.mit.edu 37 5 13817700 13817700 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:13817700C>T ENST00000265104.4 - 42 7049 c.6945G>A c.(6943-6945)ggG>ggA p.G2315G NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2315 AAA 2 (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) TAGAAAATATCCCATCAGTCC 0.403000 Kartagener syndrome 14 29 0 0 0.001855 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27539056 27539056 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:27539056C>T ENST00000574842.1 + 0 325 LRRC37A6P_ENST00000284414.4_RNA GGTTCTACATCATTACCTGGT 0.542000 8 31 0 0 0.004482 0 0 OR2T1 26696 broad.mit.edu 37 1 248569979 248569979 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:248569979C>T ENST00000366474.1 + 1 684 c.684C>T c.(682-684)ttC>ttT p.F228F NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACCACTTCTTCTGTGAGGCAC 0.512000 13 44 0 0 0.002450 0 0 SPINK5 11005 broad.mit.edu 37 5 147506638 147506638 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:147506638C>T ENST00000359874.3 + 31 3123 c.3050C>T c.(3049-3051)tCt>tTt p.S1017F SPINK5_ENST00000256084.7_Missense_Mutation_p.S987F NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 987 Kazal-like 15. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTTTCAGTTCTCTGGTAAGG 0.383000 6 19 0 0 0.003080 0 0 FNDC1 84624 broad.mit.edu 37 6 159644651 159644651 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:159644651A>T ENST00000297267.9 + 7 1058 c.858A>T c.(856-858)gaA>gaT p.E286D FNDC1_ENST00000340366.6_Missense_Mutation_p.E286D|FNDC1_ENST00000480856.1_3'UTR NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 286 Fibronectin type-III 3. 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) CTGTTCTGGAAAAACAGAAGA 0.408000 10 25 0 0 0.006214 0 0 MYPN 84665 broad.mit.edu 37 10 69902759 69902759 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:69902759A>T ENST00000358913.5 + 3 1453 c.965A>T c.(964-966)aAt>aTt p.N322I MYPN_ENST00000354393.2_Missense_Mutation_p.N47I|MYPN_ENST00000373675.3_Missense_Mutation_p.N322I|MYPN_ENST00000540630.1_Missense_Mutation_p.N322I NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 322 Ig-like 1.|Interaction with CARP. 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 CAGGCAGGAAATCTGCACTCA 0.478000 9 40 0 0 0.004482 0 0 EGFLAM 133584 broad.mit.edu 37 5 38406325 38406325 + Missense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:38406325G>T ENST00000322350.5 + 7 1156 c.810G>T c.(808-810)ttG>ttT p.L270F EGFLAM_ENST00000336740.6_Missense_Mutation_p.L36F|EGFLAM_ENST00000354891.3_Missense_Mutation_p.L270F|EGFLAM_ENST00000397202.2_Intron NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 270 cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) ACTTAGATTTGGATATTTCCT 0.463000 8 36 1.06961e-07 1.16509e-07 0.003080 1 0 CENPT 80152 broad.mit.edu 37 16 67863357 67863357 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:67863357G>A ENST00000562787.1 - 13 1797 c.1249C>T c.(1249-1251)Ctt>Ttt p.L417F CENPT_ENST00000440851.2_Missense_Mutation_p.L417F|CENPT_ENST00000564817.1_Missense_Mutation_p.L362F|CENPT_ENST00000219172.3_Missense_Mutation_p.L417F NM_025082.3 NP_079358.3 Q96BT3 CENPT_HUMAN centromere protein T 417 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding NS(1)|breast(2)|lung(6)|urinary_tract(1) 10 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) GCTGGCTCAAGAAACTGATGA 0.577000 9 15 0 0 0.010729 0 0 LURAP1L 286343 broad.mit.edu 37 9 12821462 12821462 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:12821462G>A ENST00000319264.3 + 2 1085 c.390G>A c.(388-390)tgG>tgA p.W130* NM_203403.1 NP_981948.1 Q8IV03 CI150_HUMAN leucine rich adaptor protein 1-like 133 CCATCAAGTGGATGATCGAAG 0.512000 24 40 0 0 0.002780 0 0 OSBPL2 9885 broad.mit.edu 37 20 60854378 60854378 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:60854378C>T ENST00000313733.3 + 7 859 c.657C>T c.(655-657)atC>atT p.I219I OSBPL2_ENST00000439951.2_Silent_p.I127I|OSBPL2_ENST00000358053.2_Silent_p.I207I NM_144498.1 NP_653081.1 Q9H1P3 OSBL2_HUMAN oxysterol binding protein-like 2 219 lipid transport lipid binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) GAGGCACCATCACCCTGGAGC 0.572000 10 18 0 0 0.006214 0 0 STEAP4 79689 broad.mit.edu 37 7 87912071 87912071 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:87912071C>T ENST00000380079.4 - 3 970 c.869G>A c.(868-870)cGa>cAa p.R290Q AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Intron|STEAP4_ENST00000414498.1_Missense_Mutation_p.R290Q|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000595121.1_RNA NM_001205315.1|NM_024636.3 NP_001192244.1|NP_078912.2 Q687X5 STEA4_HUMAN STEAP family member 4 290 Ferric oxidoreductase. fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity p.R290Q(1) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) AAGCTGCTTTCGGCAAAGCAT 0.473000 11 30 0 0 0.010729 0 0 GRIA1 2890 broad.mit.edu 37 5 153065888 153065888 + Splice_Site SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:153065888A>T ENST00000285900.5 + 8 1476 c.1134_splice c.e8+1 p.K378_splice GRIA1_ENST00000521843.2_Splice_Site_p.K309_splice|GRIA1_ENST00000518142.1_Splice_Site_p.K298_splice|GRIA1_ENST00000340592.5_Splice_Site_p.K378_splice|GRIA1_ENST00000518783.1_Splice_Site_p.K388_splice|GRIA1_ENST00000448073.4_Splice_Site_p.K388_splice NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 378 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GGCATCCGAAAGGTAAGGTCC 0.507000 9 26 0 0 0.004482 0 0 SMOC2 64094 broad.mit.edu 37 6 169053845 169053845 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:169053845G>A ENST00000354536.5 + 11 1475 c.1255G>A c.(1255-1257)Gaa>Aaa p.E419K SMOC2_ENST00000356284.2_Missense_Mutation_p.E408K NM_022138.2 NP_071421.1 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 408 EF-hand 2. signal transduction basement membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) CTCCGTACAAGAACTGATGGG 0.498000 23 30 0 0 0.004656 0 0 PRPS1L1 221823 broad.mit.edu 37 7 18066524 18066524 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:18066524C>T ENST00000506618.2 - 1 962 c.882G>A c.(880-882)atG>atA p.M294I NM_175886.2 NP_787082.1 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 1 294 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3) 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) CTGCAAGGATCATGGAGATGT 0.403000 52 170 0 0 0.014410 0 0 ROPN1L 83853 broad.mit.edu 37 5 10465004 10465004 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:10465004T>A ENST00000503804.1 + 6 1159 c.638T>A c.(637-639)tTt>tAt p.F213Y ROPN1L_ENST00000510520.1_Intron|ROPN1L_ENST00000274134.4_Missense_Mutation_p.F213Y Q96C74 ROP1L_HUMAN rhophilin associated tail protein 1-like 213 ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1) 14 GATTTCTTCTTTCCAAAGAGG 0.313000 22 40 0 0 0.007291 0 0 PEX10 5192 broad.mit.edu 37 1 2340004 2340004 + Missense_Mutation SNP C C G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:2340004C>G ENST00000288774.3 - 3 514 c.487G>C c.(487-489)Gcg>Ccg p.A163P PEX10_ENST00000507596.1_Missense_Mutation_p.A163P|PEX10_ENST00000447513.2_Missense_Mutation_p.A163P NM_153818.1 NP_722540.1 O60683 PEX10_HUMAN peroxisomal biogenesis factor 10 163 protein import into peroxisome matrix integral to peroxisomal membrane|peroxisomal membrane protein binding|protein C-terminus binding|zinc ion binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2) 7 all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199) ACGAAGACCGCCCGCAGCAGC 0.672000 5 41 0 0 0.000602 0 0 GPC5 2262 broad.mit.edu 37 13 92101047 92101047 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:92101047C>T ENST00000377067.3 + 2 568 c.196C>T c.(196-198)Cct>Tct p.P66S NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 66 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) ATCCAAAAAGCCTACATGTTG 0.393000 18 23 0 0 0.010504 0 0 GRXCR2 643226 broad.mit.edu 37 5 145252310 145252310 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:145252310C>T ENST00000377976.1 - 1 221 c.222G>A c.(220-222)caG>caA p.Q74Q NM_001080516.1 NP_001073985.1 A6NFK2 GRCR2_HUMAN glutaredoxin, cysteine rich 2 74 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 GGGAGCACATCTGGGGCCTGG 0.512000 10 32 0 0 0.006214 0 0 THBS2 7058 broad.mit.edu 37 6 169623568 169623568 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:169623568C>T ENST00000366787.3 - 19 3025 c.2776G>A c.(2776-2778)Gat>Aat p.D926N XXyac-YX65C7_A.2_ENST00000444188.1_RNA NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 926 cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CCCCGTCCATCACCTATGCAC 0.398000 14 45 0 0 0.001855 0 0 CCDC141 285025 broad.mit.edu 37 2 179702380 179702380 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179702380C>T ENST00000420890.2 - 23 3683 c.3566G>A c.(3565-3567)gGt>gAt p.G1189D CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.G614D NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 614 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CTGGACGCCACCCTCCTTGTC 0.547000 22 51 0 0 0.014323 0 0 VCAN 1462 broad.mit.edu 37 5 82850796 82850796 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:82850796G>A ENST00000265077.3 + 12 10239 c.9674G>A c.(9673-9675)tGg>tAg p.W3225* VCAN_ENST00000512590.2_Nonsense_Mutation_p.W1423*|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Nonsense_Mutation_p.W2238*|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Nonsense_Mutation_p.W484*|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Nonsense_Mutation_p.W1471* NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 3225 C-type lectin. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GATTATCAGTGGATAGGCCTC 0.388000 8 30 0 0 0.008291 0 0 VIPAS39 63894 broad.mit.edu 37 14 77901727 77901727 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:77901727G>A ENST00000553888.1 - 14 1432 c.922C>T c.(922-924)Cgc>Tgc p.R308C VIPAS39_ENST00000556412.1_Missense_Mutation_p.R334C|VIPAS39_ENST00000448935.2_Missense_Mutation_p.R259C|VIPAS39_ENST00000343765.2_Missense_Mutation_p.R308C|VIPAS39_ENST00000327028.4_Missense_Mutation_p.R295C|VIPAS39_ENST00000557658.1_Missense_Mutation_p.R308C NM_001193314.1|NM_001193317.1|NM_022067.3 NP_001180243.1|NP_001180246.1|NP_071350.2 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog TCTAGATGGCGATCATTTGCC 0.448000 10 62 0 0 0.008291 0 0 PCDHA1 56147 broad.mit.edu 37 5 140166226 140166226 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140166226C>T ENST00000504120.2 + 1 351 c.351C>T c.(349-351)ttC>ttT p.F117F PCDHA1_ENST00000378133.3_Silent_p.F117F|PCDHA1_ENST00000394633.3_Silent_p.F117F NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCAGGTTTTCCATGTGGAGG 0.507000 8 43 0 0 0.004482 0 0 PLXNA1 5361 broad.mit.edu 37 3 126723967 126723967 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:126723967C>T ENST00000393409.2 + 6 1778 c.1778C>T c.(1777-1779)tCa>tTa p.S593L PLXNA1_ENST00000251772.4_Missense_Mutation_p.S570L NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 593 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CCTGACCTCTCAGCTGGCGTC 0.662000 10 22 0 0 0.006214 0 0 OR4F6 390648 broad.mit.edu 37 15 102346466 102346466 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:102346466C>T ENST00000328882.4 + 1 565 c.544C>T c.(544-546)Cct>Tct p.P182S NM_001005326.1 NP_001005326.1 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, member 6 182 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) TTGTGATCTTCCTCGATTTAT 0.373000 14 59 0 0 0.002450 0 0 PRUNE2 158471 broad.mit.edu 37 9 79318599 79318599 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:79318599G>A ENST00000428286.1 - 9 8053 c.6853C>T c.(6853-6855)Cca>Tca p.P2285S PRUNE2_ENST00000376718.3_Missense_Mutation_p.P2644S Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2644 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TCCAGTGATGGATCACCAACC 0.527000 7 17 0 0 0.001984 0 0 SCAF1 58506 broad.mit.edu 37 19 50158109 50158109 + Silent SNP C C G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:50158109C>G ENST00000360565.3 + 9 3724 c.3600C>G c.(3598-3600)ggC>ggG p.G1200G NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 1200 Necessary for interaction with the CTD domain of POLR2A. mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) GCTCTGAGGGCCGTGGGGACA 0.667000 8 5 0 0 0.003080 0 0 NEURL1 9148 broad.mit.edu 37 10 105349906 105349906 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:105349906C>T ENST00000369780.4 + 6 1911 c.1502C>T c.(1501-1503)tCg>tTg p.S501L NEURL_ENST00000369777.2_Missense_Mutation_p.S484L|SH3PXD2A_ENST00000427662.2_Intron NM_004210.4 NP_004201.3 O76050 NEU1A_HUMAN 501 nervous system development perinuclear region of cytoplasm zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) GCCCCCAATTCGCCAGTGAGC 0.632000 18 63 0 0 0.004990 0 0 DEFA6 1671 broad.mit.edu 37 8 6782399 6782399 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:6782399C>T ENST00000297436.2 - 2 284 c.244G>A c.(244-246)Gaa>Aaa p.E82K NM_001926.3 NP_001917.1 Q01524 DEF6_HUMAN defensin, alpha 6, Paneth cell-specific 82 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space lung(4) 4 STAD - Stomach adenocarcinoma(24;0.0322) COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) TAGGAATATTCTGTTGAATAA 0.448000 23 45 0 0 0.003954 0 0 ABCC8 6833 broad.mit.edu 37 11 17438479 17438479 + Silent SNP G G A rs142315209 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:17438479G>A ENST00000302539.4 - 17 2381 c.2256C>T c.(2254-2256)ccC>ccT p.P752P ABCC8_ENST00000389817.3_Silent_p.P751P NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 751 ABC transporter 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) GGCTGTACCTGGGGTCCTCTC 0.562000 94 197 0 0 0.014410 0 0 PCSK5 5125 broad.mit.edu 37 9 78848402 78848402 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:78848402C>T ENST00000545128.1 + 22 3294 c.2756C>T c.(2755-2757)tCg>tTg p.S919L NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 769 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 CGCTGTGTTTCGAACTGCCCC 0.488000 13 38 0 0 0.002450 0 0 POTEH 23784 broad.mit.edu 37 22 16279198 16279198 + Missense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:16279198C>A ENST00000343518.6 - 4 1076 c.1025G>T c.(1024-1026)gGa>gTa p.G342V NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 342 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 ACTATACCTTCCATATCTATC 0.318000 16 204 2.5808e-16 2.83116e-16 0.006122 1 0 UBQLN4 56893 broad.mit.edu 37 1 156006855 156006855 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:156006855G>A ENST00000368309.3 - 11 1812 c.1720C>T c.(1720-1722)Cgt>Tgt p.R574C UBQLN4_ENST00000368307.1_Missense_Mutation_p.S226L NM_020131.3 NP_064516.2 Q9NRR5 UBQL4_HUMAN ubiquilin 4 574 UBA. cytosol|endoplasmic reticulum membrane|nucleus identical protein binding NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2) 16 Hepatocellular(266;0.133)|all_neural(408;0.195) TTAGCCTCACGATTGATGAAG 0.592000 16 118 0 0 0.007413 0 0 SGCZ 137868 broad.mit.edu 37 8 13965684 13965684 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:13965684G>A ENST00000382080.1 - 6 1323 c.608C>T c.(607-609)tCc>tTc p.S203F SGCZ_ENST00000421524.2_Missense_Mutation_p.S156F NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 190 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) GAGATCTTGGGATGGCTCTGC 0.443000 14 31 0 0 0.007413 0 0 RIMS4 140730 broad.mit.edu 37 20 43385568 43385568 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:43385568G>A ENST00000372851.3 - 5 628 c.562C>T c.(562-564)Cct>Tct p.P188S RIMS4_ENST00000541604.2_Missense_Mutation_p.P189S NM_001205317.1|NM_182970.3 NP_001192246.1|NP_892015.1 Q9H426 RIMS4_HUMAN regulating synaptic membrane exocytosis 4 188 C2. exocytosis|neurotransmitter transport cell junction|synapse central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1) 29 Myeloproliferative disorder(115;0.0122) GGACTCTCAGGAAACAGCAGC 0.552000 20 186 0 0 0.002780 0 0 PKP1 5317 broad.mit.edu 37 1 201297943 201297943 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:201297943G>A ENST00000263946.3 + 14 2474 c.2223G>A c.(2221-2223)agG>agA p.R741R PKP1_ENST00000367324.3_Silent_p.R720R|PKP1_ENST00000352845.3_Silent_p.R741R NM_000299.3 NP_000290.2 Q13835 PKP1_HUMAN plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) 741 cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development desmosome|intermediate filament|nucleus intermediate filament binding|signal transducer activity|structural constituent of epidermis NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1) 22 ACAGCCTCAGGAACTTCACCT 0.522000 59 126 0 0 0.014410 0 0 IL18R1 8809 broad.mit.edu 37 2 102992417 102992417 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:102992417G>A ENST00000409599.1 + 6 875 c.519G>A c.(517-519)aaG>aaA p.K173K IL18R1_ENST00000233957.1_Silent_p.K173K Q13478 IL18R_HUMAN interleukin 18 receptor 1 173 Ig-like C2-type 2. innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 CGATAAAGAAGAACGCCGAGT 0.313000 13 17 0 0 0.013537 0 0 OR51F1 256892 broad.mit.edu 37 11 4790565 4790565 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:4790565G>A ENST00000380383.1 - 1 603 c.604C>T c.(604-606)Cgg>Tgg p.R202W OR51F1_ENST00000343430.3_Missense_Mutation_p.R195W|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, member 1 195 integral to membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) CTATTTGCCCGAATGTCTGAA 0.388000 23 34 0 0 0.003954 0 0 FBLN5 10516 broad.mit.edu 37 14 92403309 92403309 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:92403309C>T ENST00000267620.10 - 5 653 c.484G>A c.(484-486)Gaa>Aaa p.E162K FBLN5_ENST00000556154.1_Missense_Mutation_p.E126K|FBLN5_ENST00000342058.4_Missense_Mutation_p.E121K Q9UBX5 FBLN5_HUMAN fibulin 5 121 EGF-like 2; calcium-binding (Potential). cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 28 all_cancers(154;0.0722) TGGTTGCTTTCATCCATCTGG 0.537000 41 65 0 0 0.008740 0 0 ATG7 10533 broad.mit.edu 37 3 11389500 11389500 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:11389500C>T ENST00000354449.3 + 12 1300 c.1275C>T c.(1273-1275)ttC>ttT p.F425F ATG7_ENST00000354956.5_Silent_p.F425F|ATG7_ENST00000446450.2_Silent_p.F386F NM_006395.2 NP_006386.1 O95352 ATG7_HUMAN autophagy related 7 425 autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport cytoplasm APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 34 AGAAAATATTCCCCGGTGTGG 0.478000 21 133 0 0 0.002780 0 0 NOD2 64127 broad.mit.edu 37 16 50733855 50733855 + Missense_Mutation SNP C C T rs144368009 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:50733855C>T ENST00000300589.2 + 2 635 c.530C>T c.(529-531)cCg>cTg p.P177L NOD2_ENST00000526417.2_3'UTR NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 177 CARD 2. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) ATCTTCACACCGTCCCAGAGG 0.542000 5 18 0 0 0.001168 0 0 DNAH7 56171 broad.mit.edu 37 2 196749415 196749415 + Missense_Mutation SNP C C T rs13034775 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:196749415C>T ENST00000312428.6 - 35 5757 c.5657G>A c.(5656-5658)cGa>cAa p.R1886Q NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1886 R -> Q (in dbSNP:rs13034775). 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 AAACGTATTTCGAGTTCGATC 0.358000 11 41 0 0 0.002450 0 0 APOB 338 broad.mit.edu 37 2 21230037 21230037 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:21230037C>T ENST00000233242.1 - 26 9830 c.9703G>A c.(9703-9705)Gct>Act p.A3235T NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3235 Heparin-binding. 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) GATTTTTCAGCTTTGTACTTA 0.363000 127 203 0 0 0.014410 0 0 MUC17 140453 broad.mit.edu 37 7 100678106 100678106 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:100678106G>A ENST00000306151.4 + 3 3473 c.3409G>A c.(3409-3411)Gaa>Aaa p.E1137K NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1137 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) CACTTCTACTGAAGCCAGTTC 0.532000 84 221 0 0 0.014410 0 0 SLC9B1 150159 broad.mit.edu 37 4 103912820 103912820 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:103912820G>A ENST00000296422.7 - 2 190 c.49C>T c.(49-51)Caa>Taa p.Q17* SLC9B1_ENST00000394789.3_Nonsense_Mutation_p.Q17* NM_139173.3 NP_631912.2 Q4ZJI4 NHDC1_HUMAN solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 17 integral to membrane solute:hydrogen antiporter activity GTAGATGTTTGGAAGTTTTCA 0.259000 4 4 0 0 0.003080 0 0 MAGEB18 286514 broad.mit.edu 37 X 26157816 26157816 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:26157816G>A ENST00000325250.1 + 2 901 c.714G>A c.(712-714)ggG>ggA p.G238G NM_173699.3 NP_775970.1 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 238 MAGE. protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 TCCTCTATGGGGATCCCAGGA 0.493000 5 3 0 0 0.001168 0 0 MOB3C 148932 broad.mit.edu 37 1 47080695 47080695 + Silent SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:47080695A>G ENST00000271139.8 - 1 110 c.54T>C c.(52-54)ctT>ctC p.L18L MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000371940.1_5'UTR|MOB3C_ENST00000477318.1_Intron|MOB3C_ENST00000319928.3_Intron NM_145279.4 NP_660322.2 Q70IA8 MOL2C_HUMAN MOB kinase activator 3C 0 metal ion binding TCACCCAAAGAAGTCCCCAGG 0.463000 30 60 0 0 0.006999 0 0 STK39 27347 broad.mit.edu 37 2 168812061 168812061 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:168812061G>A ENST00000355999.4 - 18 2288 c.1583C>T c.(1582-1584)tCg>tTg p.S528L STK39_ENST00000487143.1_5'UTR NM_013233.2 NP_037365.2 Q9UEW8 STK39_HUMAN serine threonine kinase 39 528 response to stress cytoplasm|nucleus ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2) 13 AGGAATCTCCGACCCATCACA 0.493000 3 8 0 0 0.009096 0 0 DDX60 55601 broad.mit.edu 37 4 169158553 169158553 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:169158553G>A ENST00000393743.3 - 32 4586 c.4295C>T c.(4294-4296)cCt>cTt p.P1432L NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1432 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) AAACCCCATAGGATTACCTTC 0.323000 7 15 0 0 0.003080 0 0 IL36B 27177 broad.mit.edu 37 2 113789344 113789344 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:113789344C>T ENST00000259213.4 - 2 51 c.e2-1 IL36B_ENST00000327407.2_Splice_Site NM_014438.3 NP_055253.2 Q9NZH7 IL36B_HUMAN interleukin 36, beta immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 GGTGAGGAGGCTGTTAACAGT 0.408000 5 23 0 0 0.000602 0 0 TRBV7-8 28590 broad.mit.edu 37 7 142099651 142099651 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:142099651G>A ENST00000390359.3 - 0 189 TACCAAAAAAGGGATACATGA 0.517000 17 42 0 0 0.008871 0 0 LCE2C 353140 broad.mit.edu 37 1 152648564 152648564 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:152648564C>T ENST00000368783.1 + 2 128 c.73C>T c.(73-75)Cca>Tca p.P25S LCE2B_ENST00000417924.2_Intron NM_178429.2 NP_848516.1 Q5TA81 LCE2C_HUMAN late cornified envelope 2C 25 Cys-rich. keratinization p.P25T(1) endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 13 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) cccaaaatgtccacctaagtg 0.572000 26 62 0 0 0.003954 0 0 SDR16C5 195814 broad.mit.edu 37 8 57228816 57228816 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:57228816G>A ENST00000396721.2 - 2 221 c.91C>T c.(91-93)Ctc>Ttc p.L31F SDR16C5_ENST00000522671.1_Missense_Mutation_p.L31F|SDR16C5_ENST00000303749.3_Missense_Mutation_p.L31F Q8N3Y7 RDHE2_HUMAN short chain dehydrogenase/reductase family 16C, member 5 31 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 p.L31F(1) 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 GGCTTTGGGAGTAAGGCAAAA 0.468000 12 31 0 0 0.013537 0 0 CSMD3 114788 broad.mit.edu 37 8 113668412 113668412 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:113668412G>A ENST00000297405.5 - 18 3219 c.2975C>T c.(2974-2976)tCc>tTc p.S992F CSMD3_ENST00000455883.2_Missense_Mutation_p.S888F|CSMD3_ENST00000352409.3_Missense_Mutation_p.S992F|CSMD3_ENST00000343508.3_Missense_Mutation_p.S952F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 992 CUB 5. 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 ACCATTATTGGAACGACTGTT 0.323000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 7 54 0 0 0.008291 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39103800 39103800 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:39103800G>A ENST00000297668.6 - 16 2550 c.2477C>T c.(2476-2478)tCc>tTc p.S826F CNTNAP3_ENST00000358144.2_Missense_Mutation_p.S738F|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.S825F NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 826 Laminin G-like 3. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) CACCCCGGAGGAAACTGTGGT 0.478000 8 26 0 0 0.010729 0 0 GPX7 2882 broad.mit.edu 37 1 53072487 53072487 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:53072487C>T ENST00000361314.4 + 2 308 c.270C>T c.(268-270)ggC>ggT p.G90G GPX7_ENST00000459779.1_3'UTR NM_015696.4 NP_056511.2 Q96SL4 GPX7_HUMAN glutathione peroxidase 7 90 response to oxidative stress extracellular region glutathione peroxidase activity breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1) 7 Glutathione(DB00143) ACCAGTTTGGCCAACAGGAGC 0.587000 31 51 0 0 0.012213 0 0 FLG2 388698 broad.mit.edu 37 1 152323556 152323556 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:152323556C>T ENST00000388718.5 - 3 6778 c.6706G>A c.(6706-6708)Ggt>Agt p.G2236S FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 2236 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) TGTCCATAACCATAGTGGGCA 0.537000 111 192 0 0 0.014410 0 0 NUP54 53371 broad.mit.edu 37 4 77057383 77057383 + Missense_Mutation SNP G G C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:77057383G>C ENST00000264883.3 - 4 618 c.478C>G c.(478-480)Ccg>Gcg p.P160A NUP54_ENST00000514987.1_Missense_Mutation_p.P112A|NUP54_ENST00000458189.2_Intron|NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000342467.6_5'UTR NM_017426.2 NP_059122.2 Q7Z3B4 NUP54_HUMAN nucleoporin 54kDa 160 9 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleoplasm cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1) 19 TCCACTGGCGGAATATTATTG 0.353000 27 32 0 0 0.013726 0 0 SNHG14 104472715 broad.mit.edu 37 15 25231979 25231979 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:25231979G>A ENST00000551631.2 + 0 887 SNHG14_ENST00000551361.1_RNA NR_001293.1 ATCTCTGGAAGAGATGACACg 0.483000 4 14 0 0 0.009096 0 0 LRRC40 55631 broad.mit.edu 37 1 70644645 70644645 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:70644645G>A ENST00000370952.3 - 6 772 c.693C>T c.(691-693)ctC>ctT p.L231L NM_017768.4 NP_060238.3 Q9H9A6 LRC40_HUMAN leucine rich repeat containing 40 231 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2) 27 TAGTTTCCAAGAGATTTGAAT 0.308000 11 29 0 0 0.001855 0 0 KLHL38 340359 broad.mit.edu 37 8 124664648 124664648 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:124664648C>T ENST00000325995.7 - 1 542 c.519G>A c.(517-519)aaG>aaA p.K173K CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 173 BACK. breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 CACAGAGCTCCTTCAGGTCGG 0.557000 30 48 0 0 0.004289 0 0 NUP210 23225 broad.mit.edu 37 3 13417924 13417924 + Missense_Mutation SNP C C T rs141201901 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:13417924C>T ENST00000254508.5 - 10 1242 c.1160G>A c.(1159-1161)cGa>cAa p.R387Q NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 387 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) AGTTTCAATTCGGATGTTCTG 0.542000 11 35 0 0 0.010729 0 0 WIPF1 7456 broad.mit.edu 37 2 175436887 175436887 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:175436887C>T ENST00000392547.2 - 5 745 c.646G>A c.(646-648)Ggg>Agg p.G216R WIPF1_ENST00000392546.2_Missense_Mutation_p.G216R|WIPF1_ENST00000409415.3_Missense_Mutation_p.G216R|WIPF1_ENST00000409891.1_Missense_Mutation_p.G216R|WIPF1_ENST00000359761.3_Missense_Mutation_p.G216R|AC018890.6_ENST00000412835.1_RNA|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.G216R NM_003387.4 NP_003378.3 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 216 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 GGAGTGGGCCCGGGGCTGGGC 0.642000 19 86 0 0 0.012319 0 0 MUC6 4588 broad.mit.edu 37 11 1031885 1031885 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:1031885G>A ENST00000421673.2 - 3 334 c.284C>T c.(283-285)tCg>tTg p.S95L NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 95 VWFD 1. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GATGATCCGCGAGATGCTCCC 0.657000 17 39 0 0 0.007413 0 0 CUZD1 50624 broad.mit.edu 37 10 124597036 124597036 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:124597036C>T ENST00000368904.1 - 6 1432 c.483G>A c.(481-483)ttG>ttA p.L161L CUZD1_ENST00000392790.1_Silent_p.L161L|CUZD1_ENST00000545804.1_Silent_p.L161L Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 161 CUB 2. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) AGGATCCTTCCAAGGTATCCA 0.423000 10 38 0 0 0.008291 0 0 KRT18P55 284085 broad.mit.edu 37 17 26604151 26604151 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:26604151C>T ENST00000577198.1 - 0 810 NR_028334.1 CCATTCCTGCCAGACCCCCGG 0.602000 25 28 0 0 0.003954 0 0 EHD3 30845 broad.mit.edu 37 2 31483545 31483545 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:31483545C>T ENST00000322054.5 + 4 957 c.672C>T c.(670-672)atC>atT p.I224I EHD3_ENST00000541626.1_Intron NM_014600.2 NP_055415.1 Q9NZN3 EHD3_HUMAN EH-domain containing 3 224 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) CTGACCAGATCGAGACGCAGC 0.552000 11 19 0 0 0.010729 0 0 GABPB2 126626 broad.mit.edu 37 1 151090540 151090540 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:151090540C>T ENST00000368918.3 + 9 1486 c.1155C>T c.(1153-1155)taC>taT p.Y385Y GABPB2_ENST00000368916.1_Silent_p.Y347Y|GABPB2_ENST00000368917.1_Silent_p.Y347Y|GABPB2_ENST00000467551.1_3'UTR NM_144618.2 NP_653219.1 Q8TAK5 GABP2_HUMAN GA binding protein transcription factor, beta subunit 2 385 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus protein heterodimerization activity|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) CAGAACAGTACCGTCTTAAGC 0.512000 25 48 0 0 0.007291 0 0 NOS1 4842 broad.mit.edu 37 12 117703244 117703244 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:117703244G>A ENST00000317775.6 - 12 2698 c.2013C>T c.(2011-2013)taC>taT p.Y671Y NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.Y671Y NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 671 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) CCCGGCAGCGGTACTCATTCT 0.607000 9 7 0 0 0.004482 0 0 CPA6 57094 broad.mit.edu 37 8 68658352 68658352 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:68658352C>T ENST00000297770.4 - 1 228 c.13G>A c.(13-15)Ggg>Agg p.G5R CPA6_ENST00000518549.1_Missense_Mutation_p.G5R|CPA6_ENST00000297769.4_5'UTR NM_020361.4 NP_065094.3 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 5 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) CTGCGCTTCCCGAGACACTTC 0.542000 7 31 0 0 0.003080 0 0 OR4P4 81300 broad.mit.edu 37 11 55405880 55405880 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:55405880C>T ENST00000314612.2 + 1 47 c.47C>T c.(46-48)tCc>tTc p.S16F NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 TTGGGGTTTTCCCAAAATAAG 0.328000 11 143 0 0 0.002450 0 0 OR10C1 442194 broad.mit.edu 37 6 29408592 29408592 + Missense_Mutation SNP C C T rs150247833 by1000genomes TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:29408592C>T ENST00000444197.2 + 1 1510 c.800C>T c.(799-801)cCg>cTg p.P267L OR11A1_ENST00000377149.1_Intron NM_013941.3 NP_039229.3 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene) 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 AGCTACGATCCGGCCACTGAC 0.567000 64 109 0 0 0.014410 0 0 MXRA5 25878 broad.mit.edu 37 X 3240982 3240982 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:3240982G>A ENST00000217939.6 - 5 2898 c.2744C>T c.(2743-2745)tCt>tTt p.S915F NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 915 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) ATAAGGCTCAGATATAAGTGT 0.493000 25 11 0 0 0.005443 0 0 PYGL 5836 broad.mit.edu 37 14 51398399 51398399 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:51398399C>T ENST00000216392.7 - 4 852 c.520G>A c.(520-522)Gga>Aga p.G174R PYGL_ENST00000532462.1_Missense_Mutation_p.G174R|PYGL_ENST00000544180.2_Missense_Mutation_p.G140R NM_002863.4 NP_002854.3 P06737 PYGL_HUMAN phosphorylase, glycogen, liver 174 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3) 25 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) ACCTGCCATCCATCTCGGATC 0.413000 13 57 0 0 0.001855 0 0 SRRM2 23524 broad.mit.edu 37 16 2813042 2813042 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:2813042C>T ENST00000301740.8 + 11 3062 c.2513C>T c.(2512-2514)tCa>tTa p.S838L NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 838 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 CATTCCAGTTCATCTCCTCAT 0.493000 55 136 0 0 0.014410 0 0 EFCAB13 124989 broad.mit.edu 37 17 45473267 45473267 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:45473267G>A ENST00000331493.2 + 17 2280 c.1869G>A c.(1867-1869)tgG>tgA p.W623* EFCAB13_ENST00000517484.1_Nonsense_Mutation_p.W527* NM_152347.4 NP_689560.3 EF-hand calcium binding domain 13 CTGACCTGTGGAATACTCTGT 0.358000 18 33 0 0 0.006122 0 0 CTNNA3 29119 broad.mit.edu 37 10 68526108 68526108 + Missense_Mutation SNP G G A rs115276158 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:68526108G>A ENST00000433211.1 - 9 1369 c.1195C>T c.(1195-1197)Ctc>Ttc p.L399F CTNNA3_ENST00000373744.4_Missense_Mutation_p.L399F|CTNNA3_ENST00000494580.1_5'UTR NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 399 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 GCTTCAATGAGAACCAAAAGA 0.403000 10 45 0 0 0.006214 0 0 FAT4 79633 broad.mit.edu 37 4 126241317 126241317 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:126241317A>G ENST00000394329.3 + 1 3764 c.3751A>G c.(3751-3753)Aaa>Gaa p.K1251E NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1251 Cadherin 12. 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 TTCTATAATAAAAGGAAATGA 0.368000 12 12 0 0 0.002450 0 0 CPPED1 55313 broad.mit.edu 37 16 12758832 12758832 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:12758832C>T ENST00000381774.4 - 4 1096 c.856G>A c.(856-858)Gag>Aag p.E286K CPPED1_ENST00000433677.2_Missense_Mutation_p.E144K|CPPED1_ENST00000261660.4_Missense_Mutation_p.R112Q NM_018340.2 NP_060810.2 Q9BRF8 CPPED_HUMAN calcineurin-like phosphoesterase domain containing 1 286 hydrolase activity|metal ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1) 18 ACAATTTTCTCGGCGGTGACC 0.527000 7 62 0 0 0.001984 0 0 OR4K1 79544 broad.mit.edu 37 14 20404458 20404458 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:20404458C>T ENST00000285600.4 + 1 692 c.633C>T c.(631-633)ttC>ttT p.F211F NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) TGAGCTGTTTCCTGGCTTTAA 0.438000 8 88 0 0 0.003080 0 0 TBC1D1 23216 broad.mit.edu 37 4 38051315 38051315 + Missense_Mutation SNP T T G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:38051315T>G ENST00000261439.4 + 11 2061 c.1706T>G c.(1705-1707)cTg>cGg p.L569R TBC1D1_ENST00000508802.1_Missense_Mutation_p.L569R NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 569 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 TCGGAGGACCTGTCCAGTGAC 0.592000 20 32 0 0 0.010504 0 0 TPSB2 64499 broad.mit.edu 37 16 1279611 1279611 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:1279611G>A ENST00000430512.2 - 0 240 TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000339687.6_RNA NM_024164.5 NP_077078.5 P20231 TRYB2_HUMAN tryptase beta 2 (gene/pseudogene) proteolysis extracellular region protein binding|serine-type endopeptidase activity lung(1)|upper_aerodigestive_tract(1) 2 Hepatocellular(780;0.00369) GGGGGTGGATGAGGGAGCCCC 0.687000 6 33 0 0 0.001984 0 0 TULP2 7288 broad.mit.edu 37 19 49398326 49398326 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:49398326G>A ENST00000221399.3 - 6 587 c.443C>T c.(442-444)tCc>tTc p.S148F NM_003323.2 NP_003314.2 O00295 TULP2_HUMAN tubby like protein 2 148 visual perception cytoplasm|extracellular region NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 22 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) GGGAGAGACGGAACCATTCTC 0.527000 20 33 0 0 0.008871 0 0 EPHB2 2048 broad.mit.edu 37 1 23191429 23191429 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:23191429G>A ENST00000400191.3 + 5 1045 c.1027G>A c.(1027-1029)Gag>Aag p.E343K EPHB2_ENST00000544305.1_Missense_Mutation_p.E343K|EPHB2_ENST00000374630.3_Missense_Mutation_p.E343K|EPHB2_ENST00000374627.1_Missense_Mutation_p.E337K|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374632.3_Missense_Mutation_p.E343K NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 343 Fibronectin type-III 1. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CCTCATGCTGGAGTGGACCCC 0.677000 38 92 0 0 0.009718 0 0 ADAM30 11085 broad.mit.edu 37 1 120438510 120438510 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:120438510C>T ENST00000369400.1 - 1 608 c.450G>A c.(448-450)aaG>aaA p.K150K NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 150 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) TGGGAGAGGCCTTGAGGGGCT 0.443000 243 498 0 0 0.014410 0 0 TNN 63923 broad.mit.edu 37 1 175096203 175096203 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:175096203C>T ENST00000239462.4 + 13 3140 c.3027C>T c.(3025-3027)ttC>ttT p.F1009F NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 1009 Fibronectin type-III 9. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CTTACCAGTTCCCAGATGGCA 0.517000 39 59 0 0 0.008740 0 0 FBXO40 51725 broad.mit.edu 37 3 121341815 121341815 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:121341815C>T ENST00000338040.4 + 3 1953 c.1539C>T c.(1537-1539)ctC>ctT p.L513L NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 513 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) GATGCCCCCTCGCCTACTTGG 0.483000 12 31 0 0 0.001855 0 0 TTN 7273 broad.mit.edu 37 2 179464311 179464311 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179464311C>T ENST00000589042.1 - 289 56541 c.56317G>A c.(56317-56319)Gca>Aca p.A18773T TTN_ENST00000460472.2_Missense_Mutation_p.A9708T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A9833T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A16205T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A9900T|TTN_ENST00000591111.1_Missense_Mutation_p.A17132T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17132 Fibronectin type-III 36. 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) TCCTTTGATGCTGTTCCCAGA 0.383000 78 154 0 0 0.014410 0 0 PCDH18 54510 broad.mit.edu 37 4 138452467 138452467 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:138452467G>A ENST00000344876.4 - 1 1162 c.776C>T c.(775-777)tCc>tTc p.S259F PCDH18_ENST00000507846.1_Missense_Mutation_p.S39F|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.S259F NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 259 Cadherin 3. 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) GCCAACCGGGGAGTTTTCTAA 0.428000 21 27 0 0 0.010504 0 0 MAML3 55534 broad.mit.edu 37 4 140641356 140641356 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:140641356C>T ENST00000509479.2 - 5 3394 c.2538G>A c.(2536-2538)acG>acA p.T846T MGST2_ENST00000515137.1_Intron NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 842 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) CGGTGGCCATCGTCCCAGGGT 0.597000 63 80 0 0 0.014410 0 0 OR1L3 26735 broad.mit.edu 37 9 125437963 125437963 + Silent SNP G G A rs141603415 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:125437963G>A ENST00000304820.2 + 1 649 c.555G>A c.(553-555)ctG>ctA p.L185L NM_001005234.1 NP_001005234.1 Q8NH93 OR1L3_HUMAN olfactory receptor, family 1, subfamily L, member 3 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L185L(1) breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 16 ACCCTGTGCTGAAACTGTCCT 0.448000 28 95 0 0 0.006320 0 0 RFX3 5991 broad.mit.edu 37 9 3225181 3225181 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:3225181G>A ENST00000382004.3 - 18 2422 c.2111C>T c.(2110-2112)cCa>cTa p.P704L NM_134428.1 NP_602304.1 P48380 RFX3_HUMAN regulatory factor X, 3 (influences HLA class II expression) 704 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) GCAGCCCACTGGAAATGCCTG 0.488000 11 15 0 0 0.010729 0 0 ACTL6B 51412 broad.mit.edu 37 7 100240948 100240948 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:100240948C>T ENST00000160382.5 - 14 1308 c.1200_splice c.e14-1 p.G401_splice NM_016188.4 NP_057272.1 O94805 ACL6B_HUMAN actin-like 6B 401 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CTGGAAAGTGCCCTGGGTGGA 0.622000 18 31 0 0 0.008871 0 0 SLC24A3 57419 broad.mit.edu 37 20 19665909 19665909 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:19665909G>A ENST00000328041.6 + 12 1425 c.1228G>A c.(1228-1230)Gaa>Aaa p.E410K NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 410 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GGCTGGCAACGAAACAgagaa 0.537000 17 32 0 0 0.004007 0 0 LRP2 4036 broad.mit.edu 37 2 170058349 170058349 + Silent SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:170058349G>T ENST00000263816.3 - 44 8526 c.8241C>A c.(8239-8241)acC>acA p.T2747T NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2747 LDL-receptor class A 17. 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) CATTGGCACAGGTGAAGGCTG 0.448000 24 22 5.45024e-15 5.97461e-15 0.003330 1 0 SMIM21 284274 broad.mit.edu 37 18 73130767 73130767 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:73130767C>T ENST00000584508.1 - 2 352 c.234G>A c.(232-234)tgG>tgA p.W78* SMIM21_ENST00000579022.1_Nonsense_Mutation_p.W78*|SMIM21_ENST00000382638.3_Intron|RP11-321M21.3_ENST00000579386.1_Intron|RP11-321M21.3_ENST00000578340.1_Intron small integral membrane protein 21 tggcccttttccagtcttcag 0.363000 40 43 0 0 0.014410 0 0 SOX7 83595 broad.mit.edu 37 8 10583781 10583781 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:10583781C>T ENST00000304501.1 - 2 712 c.634G>A c.(634-636)Gtg>Atg p.V212M SOX7_ENST00000554914.1_Missense_Mutation_p.V264M|SOX7_ENST00000553390.1_Missense_Mutation_p.V264M NM_031439.2 NP_113627.1 Q9BT81 SOX7_HUMAN SRY (sex determining region Y)-box 7 212 endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 COAD - Colon adenocarcinoma(149;0.0732) GGCTCCAGCACGTCCAGGGGA 0.701000 11 31 0 0 0.013537 0 0 MAGEC2 51438 broad.mit.edu 37 X 141290982 141290982 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:141290982G>A ENST00000247452.3 - 3 1139 c.792C>T c.(790-792)caC>caT p.H264H NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 264 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) CATAGACGAAGTGCTCCCTCC 0.507000 HNSCC(46;0.14) 48 14 0 0 0.014410 0 0 HIVEP3 59269 broad.mit.edu 37 1 41978682 41978682 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:41978682C>T ENST00000372584.1 - 7 7224 c.6210G>A c.(6208-6210)agG>agA p.R2070R HIVEP3_ENST00000247584.5_Silent_p.R2070R|HIVEP3_ENST00000372583.1_Silent_p.R2070R|HIVEP3_ENST00000429157.2_Silent_p.R2070R|HIVEP3_ENST00000460604.1_5'UTR NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 2070 6 X 4 AA tandem repeats of S-P-X-[RK]. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GAGACCATCTCCTGGTGGGCG 0.687000 23 21 0 0 0.002780 0 0 FLNA 2316 broad.mit.edu 37 X 153594969 153594969 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:153594969G>A ENST00000422373.1 - 7 1274 c.1026C>T c.(1024-1026)ttC>ttT p.F342F FLNA_ENST00000344736.4_Silent_p.F342F|FLNA_ENST00000369850.3_Silent_p.F342F|FLNA_ENST00000360319.4_Silent_p.F342F NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 342 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACCAGACGGAGAAGGTGCGGT 0.627000 22 18 0 0 0.003330 0 0 ROBO4 54538 broad.mit.edu 37 11 124761258 124761258 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:124761258C>T ENST00000306534.3 - 12 2370 c.1885G>A c.(1885-1887)Gga>Aga p.G629R ROBO4_ENST00000533054.1_Missense_Mutation_p.G484R|RP11-664I21.6_ENST00000524433.1_5'UTR NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 629 angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) GAAGAGAGTCCCCTGCGGCTG 0.632000 4 34 0 0 0.009096 0 0 SLC16A10 117247 broad.mit.edu 37 6 111498712 111498712 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:111498712G>A ENST00000368851.5 + 3 961 c.786G>A c.(784-786)gaG>gaA p.E262E SLC16A10_ENST00000465319.1_3'UTR|SLC16A10_ENST00000368850.3_5'UTR NM_018593.4 NP_061063.2 Q8TF71 MOT10_HUMAN solute carrier family 16 (aromatic amino acid transporter), member 10 262 aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport basolateral plasma membrane|integral to membrane amino acid transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2) 12 all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466) OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132) AAGATAAAGAGAGTGGAGGTA 0.433000 4 34 0 0 0.009096 0 0 SP140 11262 broad.mit.edu 37 2 231102958 231102958 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:231102958C>T ENST00000392045.3 + 3 382 c.268C>T c.(268-270)Cca>Tca p.P90S SP140_ENST00000544128.1_3'UTR|SP140_ENST00000350136.5_Missense_Mutation_p.P70S|SP140_ENST00000417495.3_Missense_Mutation_p.P90S|SP140_ENST00000420434.3_Missense_Mutation_p.P90S|SP140_ENST00000373645.3_Missense_Mutation_p.P90S|SP140_ENST00000486687.2_Missense_Mutation_p.P90S|SP140_ENST00000343805.6_Missense_Mutation_p.P90S NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 90 HSR. defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|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) AAACCTGGTCCCAGTGACAAG 0.378000 11 46 0 0 0.002450 0 0 IDO1 3620 broad.mit.edu 37 8 39775453 39775453 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:39775453C>T ENST00000518237.1 + 2 786 c.147C>T c.(145-147)ctC>ctT p.L49L RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Silent_p.L49L NM_002164.5 NP_002155.1 P14902 I23O1_HUMAN indoleamine 2,3-dioxygenase 1 49 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) TGCCTGATCTCATAGAGTCTG 0.323000 8 27 0 0 0.003080 0 0 CELSR3 1951 broad.mit.edu 37 3 48699813 48699813 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:48699813G>A ENST00000544264.1 - 1 535 c.255C>T c.(253-255)ttC>ttT p.F85F CELSR3_ENST00000164024.4_Silent_p.F85F Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 85 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GGAGCCCCACGAAGATAGGCT 0.657000 21 79 0 0 0.010504 0 0 CANT1 124583 broad.mit.edu 37 17 76993403 76993403 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:76993403G>A ENST00000302345.2 - 2 796 c.302C>T c.(301-303)gCt>gTt p.A101V CANT1_ENST00000591773.1_Missense_Mutation_p.A101V|CANT1_ENST00000392446.5_Missense_Mutation_p.A101V NM_001159773.1|NM_138793.3 NP_001153245.1|NP_620148.1 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 101 positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity CANT1/ETV4(3) cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) CCGAATCCCAGCCGGTGTCCT 0.582000 T ETV4 prostate 134 59 0 0 0.014410 0 0 PHF3 23469 broad.mit.edu 37 6 64422871 64422871 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:64422871C>T ENST00000262043.3 + 16 5727 c.5387C>T c.(5386-5388)tCa>tTa p.S1796L PHF3_ENST00000393387.1_Missense_Mutation_p.S1796L Q92576 PHF3_HUMAN PHD finger protein 3 1796 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) ACAAACTTTTCACCCATGAGG 0.458000 29 49 0 0 0.012213 0 0 ANK2 287 broad.mit.edu 37 4 114286205 114286205 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:114286205C>T ENST00000357077.4 + 41 10952 c.10899C>T c.(10897-10899)ctC>ctT p.L3633L ANK2_ENST00000509550.1_Silent_p.L724L|ANK2_ENST00000264366.6_Silent_p.L3600L|ANK2_ENST00000510275.2_Silent_p.L200L|ANK2_ENST00000394537.3_Silent_p.L1548L|ANK2_ENST00000506722.1_Silent_p.L1539L NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3600 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ATACCAACCTCGTTGAATGTC 0.388000 32 29 0 0 0.013726 0 0 GRIK1 2897 broad.mit.edu 37 21 30971160 30971160 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr21:30971160C>T ENST00000399914.1 - 8 1717 c.1196G>A c.(1195-1197)gGa>gAa p.G399E BACH1_ENST00000462262.1_Intron|GRIK1_ENST00000327783.4_Missense_Mutation_p.G399E|GRIK1_ENST00000535441.1_Missense_Mutation_p.G401E|GRIK1_ENST00000309434.7_Missense_Mutation_p.G401E|GRIK1-AS2_ENST00000333765.4_Intron|GRIK1_ENST00000389125.3_Missense_Mutation_p.G399E|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000389124.2_Missense_Mutation_p.G399E|GRIK1_ENST00000399907.1_Missense_Mutation_p.G399E|GRIK1_ENST00000399909.1_Missense_Mutation_p.G399E|GRIK1_ENST00000399913.1_Missense_Mutation_p.G399E P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 399 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) CTTTTCAGTTCCTTCCTCTTT 0.368000 22 25 0 0 0.002780 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92663747 92663747 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:92663747C>T ENST00000318445.6 + 5 1276 c.1062C>T c.(1060-1062)atC>atT p.I354I SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Silent_p.I354I NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 354 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) TCACCTGCATCATCCTGGCCG 0.567000 25 111 0 0 0.003954 0 0 SLAMF8 56833 broad.mit.edu 37 1 159799890 159799890 + Missense_Mutation SNP C C T rs141884763 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:159799890C>T ENST00000289707.5 + 2 424 c.275C>T c.(274-276)cCg>cTg p.P92L SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Intron NM_020125.2 NP_064510.1 Q9P0V8 SLAF8_HUMAN SLAM family member 8 92 integral to membrane endometrium(2)|large_intestine(4)|lung(6) 12 all_hematologic(112;0.0597) GAGCTCGGGCCGCTGGAGTCT 0.627000 26 39 0 0 0.003330 0 0 ATP8B4 79895 broad.mit.edu 37 15 50264922 50264922 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:50264922C>T ENST00000284509.6 - 13 1241 c.1100G>A c.(1099-1101)cGa>cAa p.R367Q ATP8B4_ENST00000559829.1_Missense_Mutation_p.R367Q NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 367 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) TATTGCTTTTCGAGAATAATA 0.408000 4 20 0 0 0.001168 0 0 GRM5 2915 broad.mit.edu 37 11 88780397 88780397 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:88780397G>A ENST00000418177.2 - 2 1011 c.644C>T c.(643-645)tCa>tTa p.S215L GRM5_ENST00000393294.3_Missense_Mutation_p.S215L|GRM5_ENST00000305447.4_Missense_Mutation_p.S215L|GRM5_ENST00000393297.1_Missense_Mutation_p.S215L|GRM5_ENST00000305432.5_Missense_Mutation_p.S215L|GRM5_ENST00000455756.2_Missense_Mutation_p.S215L P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 215 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GTGCACGGCTGATACATAGGT 0.418000 26 44 0 0 0.009535 0 0 KCNQ5 56479 broad.mit.edu 37 6 73787056 73787056 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:73787056C>T ENST00000342056.2 + 4 1026 c.628C>T c.(628-630)Ctt>Ttt p.L210F KCNQ5_ENST00000355194.4_Missense_Mutation_p.L210F|KCNQ5_ENST00000355635.3_Missense_Mutation_p.L210F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.L210F|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L210F|KCNQ5_ENST00000370392.1_Missense_Mutation_p.L210F|KCNQ5_ENST00000414165.2_Missense_Mutation_p.L210F|KCNQ5_ENST00000370398.1_Missense_Mutation_p.L210F NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 210 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TACCATTGTTCTTATCGCTTC 0.403000 22 45 0 0 0.004656 0 0 TMEM57 55219 broad.mit.edu 37 1 25784986 25784986 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:25784986C>T ENST00000374343.4 + 6 936 c.757C>T c.(757-759)Cga>Tga p.R253* TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000470035.1_3'UTR NM_018202.4 NP_060672.2 Q8N5G2 MACOI_HUMAN transmembrane protein 57 253 axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) GATAGAATACCGAGAAAAAGG 0.373000 39 59 0 0 0.008740 0 0 RBM46 166863 broad.mit.edu 37 4 155719258 155719258 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:155719258C>T ENST00000510397.1 + 3 626 c.447C>T c.(445-447)ccC>ccT p.P149P RBM46_ENST00000514866.1_Silent_p.P149P|RBM46_ENST00000281722.3_Silent_p.P149P NM_001277173.1 NP_001264102.1 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 149 RRM 2. nucleotide binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0854) GAGCTATTCCCAAGGAAAAGA 0.328000 19 17 0 0 0.008871 0 0 OR4C15 81309 broad.mit.edu 37 11 55322720 55322720 + Missense_Mutation SNP G G A rs149965163 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:55322720G>A ENST00000314644.2 + 1 938 c.938G>A c.(937-939)cGa>cAa p.R313Q NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 GTATATACACGACCTCCATCT 0.403000 HNSCC(20;0.049) 63 96 0 0 0.014410 0 0 SEC24C 9632 broad.mit.edu 37 10 75529378 75529378 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:75529378C>T ENST00000339365.2 + 20 2731 c.2569C>T c.(2569-2571)Cgg>Tgg p.R857W SEC24C_ENST00000345254.4_Missense_Mutation_p.R857W|SEC24C_ENST00000411652.2_Missense_Mutation_p.R738W|SEC24C_ENST00000540668.1_Missense_Mutation_p.R105W|SEC24C_ENST00000535742.1_Missense_Mutation_p.R105W|SEC24C_ENST00000496827.1_3'UTR NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 857 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) TCCAGCATATCGGGGAGTCCT 0.542000 14 29 0 0 0.004007 0 0 NOS1 4842 broad.mit.edu 37 12 117768619 117768619 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:117768619C>T ENST00000317775.6 - 2 941 c.256G>A c.(256-258)Ggc>Agc p.G86S NOS1_ENST00000344089.3_Missense_Mutation_p.G86S|NOS1_ENST00000338101.4_Missense_Mutation_p.G86S NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 86 Interaction with NOSIP (By similarity).|PDZ. 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) GAGGCAATGCCTCTGAGTACC 0.602000 30 17 0 0 0.012213 0 0 CNTN2 6900 broad.mit.edu 37 1 205042356 205042356 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:205042356G>A ENST00000331830.4 + 22 3289 c.3005G>A c.(3004-3006)aGg>aAg p.R1002K NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 1002 Fibronectin type-III 4. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CACATCGTGAGGAATGGAGGT 0.562000 21 58 0 0 0.014323 0 0 NME9 347736 broad.mit.edu 37 3 138025309 138025309 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:138025309C>T ENST00000383180.2 - 8 528 c.291G>A c.(289-291)agG>agA p.R97R NME9_ENST00000333911.3_Silent_p.R158R|NME9_ENST00000317876.4_Silent_p.R97R|NME9_ENST00000484930.1_Silent_p.R95R|NME9_ENST00000536478.1_Silent_p.R97R|NME9_ENST00000341790.5_Silent_p.R95R NM_178130.2 NP_835231.1 Q86XW9 TXND6_HUMAN NME/NM23 family member 9 158 Thioredoxin. cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process cytoplasm|cytoskeleton ATP binding|nucleoside diphosphate kinase activity AGGTACAGGTCCTCTCTGATG 0.453000 19 223 0 0 0.003330 0 0 FCAR 2204 broad.mit.edu 37 19 55401169 55401169 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:55401169G>A ENST00000355524.3 + 5 814 c.804G>A c.(802-804)tgG>tgA p.W268* FCAR_ENST00000391725.3_Nonsense_Mutation_p.W246*|FCAR_ENST00000391723.3_3'UTR|FCAR_ENST00000391724.3_Nonsense_Mutation_p.W234*|FCAR_ENST00000359272.4_Nonsense_Mutation_p.W256*|FCAR_ENST00000345937.4_Nonsense_Mutation_p.W172*|FCAR_ENST00000353758.4_Nonsense_Mutation_p.W159*|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391726.3_Nonsense_Mutation_p.W160* NM_002000.2 NP_001991.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 268 immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) AACCGAGCTGGAGCCAACAGA 0.547000 55 106 0 0 0.014410 0 0 IGHV1-69 28461 broad.mit.edu 37 14 107170136 107170136 + RNA SNP C C T rs141856656 by1000genomes TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:107170136C>T ENST00000390633.2 - 0 206 AGCATAGCTGCTGAAGGTGCC 0.587000 16 80 0 0 0.003163 0 0 RIMBP3 85376 broad.mit.edu 37 22 20457175 20457175 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:20457175T>A ENST00000426804.1 - 1 4611 c.4127A>T c.(4126-4128)cAt>cTt p.H1376L NM_015672.1 NP_056487.1 RIMS binding protein 3 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 13 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) CAAAACGTTATGGAAGTCAGA 0.582000 13 79 0 0 0.002450 0 0 MUC16 94025 broad.mit.edu 37 19 9062601 9062601 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9062601G>A ENST00000397910.4 - 3 25048 c.24845C>T c.(24844-24846)tCc>tTc p.S8282F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8284 Ser-rich.|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 TAATGTAGAGGAAACAGGAGA 0.512000 5 54 0 0 0.001168 0 0 CD207 50489 broad.mit.edu 37 2 71061125 71061125 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:71061125C>T ENST00000410009.3 - 3 262 c.217G>A c.(217-219)Gat>Aat p.D73N NM_015717.3 NP_056532.3 Q9UJ71 CLC4K_HUMAN CD207 molecule, langerin 73 defense response to virus endocytic vesicle|integral to membrane mannose binding endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1) 20 GTCTTTACATCTGATATGGTG 0.512000 7 9 0 0 0.001984 0 0 SBF1 6305 broad.mit.edu 37 22 50885667 50885667 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:50885667C>T ENST00000380817.2 - 41 5769 c.5586G>A c.(5584-5586)gtG>gtA p.V1862V SBF1_ENST00000348911.6_Silent_p.V1837V|SBF1_ENST00000390679.3_Silent_p.V1836V NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 1836 PH. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) GCGTTGTCTTCACCTGGGGAA 0.657000 14 19 0 0 0.002450 0 0 ANKRD55 79722 broad.mit.edu 37 5 55407155 55407155 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:55407155G>A ENST00000341048.4 - 10 1571 c.1420C>T c.(1420-1422)Cga>Tga p.R474* ANKRD55_ENST00000504958.2_Nonsense_Mutation_p.R431*|ANKRD55_ENST00000434982.2_Nonsense_Mutation_p.R186* NM_024669.2 NP_078945.2 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 473 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) TGCTCACTTCGACTTTTCTGA 0.468000 16 48 0 0 0.004007 0 0 FAT4 79633 broad.mit.edu 37 4 126412820 126412820 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:126412820A>G ENST00000394329.3 + 17 14856 c.14843A>G c.(14842-14844)aAa>aGa p.K4948R FAT4_ENST00000335110.5_Missense_Mutation_p.K3189R NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4948 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 GATGTTTTTAAAGATTTGGCA 0.473000 17 7 0 0 0.007413 0 0 EPX 8288 broad.mit.edu 37 17 56271404 56271404 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:56271404C>T ENST00000225371.5 + 5 655 c.545C>T c.(544-546)cCc>cTc p.P182L NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 182 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 CTGTCGCTCCCCTTCGGCTGG 0.627000 20 4 0 0 0.010504 0 0 TTN 7273 broad.mit.edu 37 2 179642434 179642434 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179642434C>T ENST00000589042.1 - 25 4701 c.4477G>A c.(4477-4479)Gat>Aat p.D1493N TTN_ENST00000460472.2_Missense_Mutation_p.D1447N|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.D1493N|TTN_ENST00000359218.5_Missense_Mutation_p.D1447N|TTN_ENST00000342992.6_Missense_Mutation_p.D1493N|TTN_ENST00000342175.6_Missense_Mutation_p.D1447N|TTN_ENST00000591111.1_Missense_Mutation_p.D1493N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1493 Ig-like 6. 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) CGCTTACCATCATGAAACCAG 0.323000 17 54 0 0 0.006122 0 0 PSG6 5675 broad.mit.edu 37 19 43411915 43411915 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:43411915C>T ENST00000187910.2 - 4 863 c.798G>A c.(796-798)cgG>cgA p.R266R PSG6_ENST00000292125.2_Silent_p.R266R|PSG6_ENST00000402603.4_Intron NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) AGGTGTAGTTCCGACTCTTAG 0.498000 96 169 0 0 0.014410 0 0 MGAM 8972 broad.mit.edu 37 7 141765264 141765264 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:141765264C>T ENST00000475668.2 + 38 4668 c.4614C>T c.(4612-4614)atC>atT p.I1538I MGAM_ENST00000549489.2_Silent_p.I1538I O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1538 Glucoamylase. 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) AGAAGTCTATCATTGGTGCGT 0.597000 6 10 0 0 0.001168 0 0 SLC22A15 55356 broad.mit.edu 37 1 116577854 116577854 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:116577854G>A ENST00000369503.4 + 7 1121 c.991G>A c.(991-993)Gat>Aat p.D331N SLC22A15_ENST00000481127.1_3'UTR NM_018420.2 NP_060890.2 Q8IZD6 S22AF_HUMAN solute carrier family 22, member 15 331 ion transport integral to membrane transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1) 17 Lung SC(450;0.184) all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) GAGTGCGGGTGATCTAGGTGG 0.453000 23 51 0 0 0.004656 0 0 VGLL3 389136 broad.mit.edu 37 3 87018049 87018049 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:87018049G>A ENST00000398399.2 - 3 991 c.628C>T c.(628-630)Cct>Tct p.P210S VGLL3_ENST00000383698.3_Missense_Mutation_p.P210S NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 210 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) GATGTCAAAGGATAAGGCCAG 0.602000 24 54 0 0 0.003330 0 0 LRRC66 339977 broad.mit.edu 37 4 52861265 52861265 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:52861265G>A ENST00000343457.3 - 4 1929 c.1923C>T c.(1921-1923)tcC>tcT p.S641S NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 641 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 CCCTTGCCCCGGACAGCCTTG 0.527000 21 20 0 0 0.002780 0 0 MUC17 140453 broad.mit.edu 37 7 100686975 100686975 + Missense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:100686975C>A ENST00000306151.4 + 3 12342 c.12278C>A c.(12277-12279)aCc>aAc p.T4093N NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4093 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) ACCACCATGACCACCAGGACA 0.562000 21 38 1.85244e-09 2.02292e-09 0.003330 1 0 ZNF812 729648 broad.mit.edu 37 19 9801846 9801846 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9801846C>T ENST00000457674.2 - 5 851 c.333G>A c.(331-333)ggG>ggA p.G111G ZNF812_ENST00000536819.1_5'UTR NM_001199814.1 NP_001186743.1 P0C7V5 ZN812_HUMAN zinc finger protein 812 111 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CAAAGATGTTCCCTCCATTCT 0.423000 6 40 0 0 0.001168 0 0 GPA33 10223 broad.mit.edu 37 1 167032879 167032879 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:167032879G>A ENST00000367868.3 - 4 854 c.511C>T c.(511-513)Cct>Tct p.P171S GPA33_ENST00000527955.1_5'UTR NM_005814.1 NP_005805.1 Q99795 GPA33_HUMAN glycoprotein A33 (transmembrane) 171 Ig-like C2-type. integral to plasma membrane receptor activity p.P171S(1) endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 CTGTACTGAGGGGTTGGTGAG 0.572000 34 64 0 0 0.005524 0 0 SCNN1B 6338 broad.mit.edu 37 16 23387119 23387119 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:23387119C>T ENST00000343070.2 + 8 1389 c.1213C>T c.(1213-1215)Ctg>Ttg p.L405L SCNN1B_ENST00000307331.5_Silent_p.L450L|SCNN1B_ENST00000568085.1_Silent_p.L369L|SCNN1B_ENST00000568923.1_Silent_p.L378L NM_000336.2 NP_000327.2 P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 405 excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) TGGCCACTACCTGTACCCACT 0.612000 14 41 0 0 0.001855 0 0 C1QC 714 broad.mit.edu 37 1 22973756 22973756 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:22973756G>A ENST00000374639.3 + 3 336 c.218G>A c.(217-219)gGg>gAg p.G73E C1QC_ENST00000374637.1_Missense_Mutation_p.G73E|C1QC_ENST00000374640.4_Missense_Mutation_p.G73E NM_001114101.1 NP_001107573.1 P02747 C1QC_HUMAN complement component 1, q subcomponent, C chain 73 Collagen-like. complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation collagen endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 15 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;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196) 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) GGACCCAAAGGGCAGAAGGGA 0.647000 16 25 0 0 0.004990 0 0 NEB 4703 broad.mit.edu 37 2 152483634 152483634 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:152483634G>A ENST00000397345.3 - 70 10431 c.10229C>T c.(10228-10230)gCt>gTt p.A3410V NEB_ENST00000172853.10_Missense_Mutation_p.A3167V|NEB_ENST00000603639.1_Missense_Mutation_p.A3410V|NEB_ENST00000427231.2_Missense_Mutation_p.A3410V|NEB_ENST00000604864.1_Missense_Mutation_p.A3410V|NEB_ENST00000409198.1_Missense_Mutation_p.A3167V NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 3410 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TATTTCAGCAGCTCTCTTGCA 0.483000 8 47 0 0 0.004482 0 0 PRUNE2 158471 broad.mit.edu 37 9 79320738 79320738 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:79320738C>T ENST00000428286.1 - 8 6575 c.5375G>A c.(5374-5376)cGg>cAg p.R1792Q PRUNE2_ENST00000376718.3_Missense_Mutation_p.R2151Q Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2151 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity p.R2151Q(1) endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GACAAACTCCCGTCCAGGCTC 0.512000 37 68 0 0 0.004289 0 0 OR5A1 219982 broad.mit.edu 37 11 59211293 59211293 + Missense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:59211293C>A ENST00000302030.2 + 1 677 c.652C>A c.(652-654)Ctt>Att p.L218I NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 CCTCCAACTCCTTATCTCCTA 0.542000 40 86 5.43694e-19 5.96981e-19 0.005524 1 0 DAOA 267012 broad.mit.edu 37 13 106142276 106142276 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:106142276G>A ENST00000329625.5 + 4 373 c.95G>A c.(94-96)gGa>gAa p.G32E DAOA-AS1_ENST00000448407.1_RNA|DAOA_ENST00000375936.3_Missense_Mutation_p.G103E P59103 DAOA_HUMAN D-amino acid oxidase activator 103 Golgi apparatus endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1) 13 Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) agccatgttggaaaagtcttc 0.498000 4 25 0 0 0.009096 0 0 TFDP1 7027 broad.mit.edu 37 13 114288335 114288335 + Missense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:114288335G>T ENST00000375370.5 + 7 817 c.605G>T c.(604-606)tGt>tTt p.C202F TFDP1_ENST00000544902.1_Missense_Mutation_p.C107F|TFDP1_ENST00000538138.1_Missense_Mutation_p.C107F NM_007111.4 NP_009042.1 Q14186 TFDP1_HUMAN transcription factor Dp-1 202 cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153) all cancers(43;0.0576) GCTCAGGAATGTCAGAACTTA 0.498000 TSP Lung(29;0.18) 10 40 0.000673444 0.000728283 0.008291 1 0 MACF1 23499 broad.mit.edu 37 1 39799709 39799709 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:39799709C>T ENST00000564288.1 + 37 8226 c.7449C>T c.(7447-7449)tcC>tcT p.S2483S MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Silent_p.S2488S|MACF1_ENST00000567887.1_Silent_p.S2520S|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Silent_p.S923S|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2488 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TTGTGCAGTCCATTGACAGAG 0.403000 68 129 0 0 0.014410 0 0 NPAP1 23742 broad.mit.edu 37 15 24923641 24923641 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:24923641C>T ENST00000329468.2 + 1 3101 c.2627C>T c.(2626-2628)cCt>cTt p.P876L NM_018958.2 NP_061831.2 nuclear pore associated protein 1 ACCAGTTTTCCTGCACAGGCA 0.507000 8 68 0 0 0.003080 0 0 CACNA1G 8913 broad.mit.edu 37 17 48646258 48646258 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:48646258C>T ENST00000352832.5 + 2 642 c.270C>T c.(268-270)gtC>gtT p.V90V CACNA1G_ENST00000358244.5_Silent_p.V90V|CACNA1G_ENST00000507896.1_Silent_p.V90V|CACNA1G_ENST00000354983.4_Silent_p.V90V|CACNA1G_ENST00000502264.1_Silent_p.V90V|CACNA1G_ENST00000515411.1_Silent_p.V90V|CACNA1G_ENST00000507609.1_Silent_p.V90V|CACNA1G_ENST00000360761.4_Silent_p.V90V|CACNA1G_ENST00000513964.1_Silent_p.V90V|CACNA1G_ENST00000416767.4_Silent_p.V90V|CACNA1G_ENST00000514717.1_Silent_p.V90V|CACNA1G_ENST00000503485.1_Silent_p.V90V|CACNA1G_ENST00000510366.1_Silent_p.V90V|CACNA1G_ENST00000514181.1_Silent_p.V90V|CACNA1G_ENST00000507336.1_Silent_p.V90V|CACNA1G_ENST00000515165.1_Silent_p.V90V|CACNA1G_ENST00000429973.2_Silent_p.V90V|CACNA1G_ENST00000514079.1_Silent_p.V90V|CACNA1G_ENST00000359106.5_Silent_p.V90V|CACNA1G_ENST00000512389.1_Silent_p.V90V|CACNA1G_ENST00000515765.1_Silent_p.V90V|CACNA1G_ENST00000442258.2_Silent_p.V90V|CACNA1G_ENST00000510115.1_Silent_p.V90V|CACNA1G_ENST00000507510.2_Silent_p.V90V|CACNA1G_ENST00000513689.2_Silent_p.V90V|CACNA1G_ENST00000505165.1_Silent_p.V90V 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 90 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) GCATGTTGGTCATCCTTCTCA 0.622000 24 14 0 0 0.005443 0 0 VCAN 1462 broad.mit.edu 37 5 82832870 82832870 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:82832870G>A ENST00000265077.3 + 8 4613 c.4048G>A c.(4048-4050)Gaa>Aaa p.E1350K VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.E363K|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1350 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding p.E1350*(1) NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AATAGATTCAGAATCTAAAGA 0.338000 4 26 0 0 0.009096 0 0 C3P1 388503 broad.mit.edu 37 19 10158123 10158123 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:10158123C>T ENST00000495140.1 + 0 1331 endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1) 13 TTTCAGGGATCGCCAGGCCAA 0.428000 17 58 0 0 0.006122 0 0 PEX5L 51555 broad.mit.edu 37 3 179597774 179597774 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:179597774C>T ENST00000467460.1 - 5 778 c.448G>A c.(448-450)Gat>Aat p.D150N PEX5L_ENST00000485199.1_Missense_Mutation_p.D115N|PEX5L_ENST00000476138.1_Missense_Mutation_p.D107N|PEX5L_ENST00000472994.1_Missense_Mutation_p.D91N|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000467440.2_Intron|PEX5L_ENST00000465751.1_Missense_Mutation_p.D126N|PEX5L_ENST00000464614.1_Intron|PEX5L_ENST00000392649.3_Intron|PEX5L_ENST00000263962.8_Missense_Mutation_p.D148N|PEX5L-AS1_ENST00000466064.1_RNA NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 150 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) TGCTCAGCATCCGTGCTGATG 0.517000 29 35 0 0 0.010818 0 0 NCKAP5 344148 broad.mit.edu 37 2 133539967 133539967 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:133539967C>T ENST00000409261.1 - 14 4790 c.4417G>A c.(4417-4419)Gaa>Aaa p.E1473K NCKAP5_ENST00000317721.6_Missense_Mutation_p.E1473K|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1473 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 ACCTTTTCTTCGATTGTGGGT 0.502000 21 24 0 0 0.008871 0 0 RGS22 26166 broad.mit.edu 37 8 101016271 101016271 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:101016271C>T ENST00000360863.6 - 17 2704 c.2510G>A c.(2509-2511)cGa>cAa p.R837Q RGS22_ENST00000523437.1_Missense_Mutation_p.R825Q|RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523287.1_Missense_Mutation_p.R656Q NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 837 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity p.R837Q(2) RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) ATATTCTGTTCGTTTAGAGAC 0.353000 18 33 0 0 0.010504 0 0 APOA5 116519 broad.mit.edu 37 11 116661636 116661636 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:116661636C>T ENST00000542499.1 - 4 381 c.309G>A c.(307-309)gtG>gtA p.V103V APOA5_ENST00000227665.4_Silent_p.V103V NM_001166598.1|NM_052968.4 NP_001160070.1|NP_443200.2 Q6Q788 APOA5_HUMAN apolipoprotein A-V 103 acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1) 14 all_hematologic(175;0.0487) all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149) GGCGAGCCTTCACCTCCTCCA 0.642000 25 274 0 0 0.003330 0 0 SNHG14 104472715 broad.mit.edu 37 15 25477588 25477588 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:25477588C>T ENST00000453082.2 + 0 1700 SNORD115-34_ENST00000362441.1_RNA NR_003343.1 ACTTAAAAATCATGCTCAATA 0.522000 40 137 0 0 0.014410 0 0 GLYATL1 92292 broad.mit.edu 37 11 58723398 58723398 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:58723398A>T ENST00000300079.5 + 7 950 c.900A>T c.(898-900)gaA>gaT p.E300D RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Missense_Mutation_p.E269D NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 269 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) TGTTGGAAGAAAATGAAGACT 0.443000 14 38 0 0 0.003163 0 0 SLC26A4 5172 broad.mit.edu 37 7 107303820 107303820 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:107303820G>A ENST00000265715.3 + 3 468 c.244G>A c.(244-246)Gaa>Aaa p.E82K NM_000441.1 NP_000432.1 O43511 S26A4_HUMAN solute carrier family 26 (anion exchanger), member 4 82 regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 CCGAGTCAAGGAATGGCTGCT 0.488000 Pendred syndrome 17 69 0 0 0.006122 0 0 OR13F1 138805 broad.mit.edu 37 9 107266684 107266684 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:107266684C>T ENST00000334726.2 + 1 230 c.141C>T c.(139-141)tcC>tcT p.S47S NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 47 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 TTCTGATCTCCATCACCATTC 0.478000 37 62 0 0 0.007835 0 0 DIAPH1 1729 broad.mit.edu 37 5 140908359 140908359 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140908359G>A ENST00000253811.6 - 22 3071 c.2931C>T c.(2929-2931)ctC>ctT p.L977L DIAPH1_ENST00000518047.1_Silent_p.L964L|DIAPH1_ENST00000520569.1_Silent_p.L919L|DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000389057.5_Silent_p.L967L|DIAPH1_ENST00000398562.2_Silent_p.L952L|DIAPH1_ENST00000398566.3_Silent_p.L968L|DIAPH1_ENST00000389054.3_Silent_p.L973L|DIAPH1_ENST00000398557.4_Silent_p.L976L O60610 DIAP1_HUMAN diaphanous-related formin 1 976 FH2. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAATCTCTAGGAGATTGGAAA 0.443000 17 32 0 0 0.006122 0 0 GJA10 84694 broad.mit.edu 37 6 90604965 90604965 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:90604965C>T ENST00000369352.1 + 1 778 c.778C>T c.(778-780)Cat>Tat p.H260Y NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 260 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) CCCTCCATTCCATTTGAAGAA 0.398000 15 35 0 0 0.002450 0 0 BCLAF1 9774 broad.mit.edu 37 6 136590624 136590624 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:136590624C>T ENST00000531224.1 - 9 2422 c.2170G>A c.(2170-2172)Gaa>Aaa p.E724K BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E724K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E722K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E722K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E722K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E551K NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 724 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GGAGTTTTTTCCTGCTTTCTT 0.393000 5 54 0 0 0.000602 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145773399 145773399 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:145773399G>A ENST00000276826.5 - 4 1272 c.1071C>T c.(1069-1071)ctC>ctT p.L357L ARHGAP39_ENST00000540274.1_Silent_p.L357L|ARHGAP39_ENST00000377307.2_Silent_p.L357L Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 357 Pro-rich. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 TGTTGGGCTGGAGGAACGGCC 0.697000 8 18 0 0 0.003080 0 0 HSD17B13 345275 broad.mit.edu 37 4 88243985 88243985 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:88243985G>A ENST00000328546.4 - 1 73 c.9C>T c.(7-9)atC>atT p.I3I RP11-529H2.2_ENST00000508163.1_RNA|HSD17B13_ENST00000302219.6_Silent_p.I3I NM_178135.3 NP_835236.2 Q7Z5P4 DHB13_HUMAN hydroxysteroid (17-beta) dehydrogenase 13 3 extracellular region binding|oxidoreductase activity endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 8 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.000308) TTTCTAGGATGATGTTCATGG 0.488000 9 4 0 0 0.008291 0 0 OR51L1 119682 broad.mit.edu 37 11 5021147 5021147 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:5021147G>A ENST00000321543.1 + 1 935 c.935G>A c.(934-936)aGg>aAg p.R312K NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 312 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TTTGTCCTAAGGAGGAGGTTT 0.403000 16 27 0 0 0.004990 0 0 NRDE2 55051 broad.mit.edu 37 14 90755487 90755487 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:90755487G>A ENST00000354366.3 - 11 2464 c.2232C>T c.(2230-2232)gtC>gtT p.V744V NRDE2_ENST00000357904.3_Silent_p.V513V NM_017970.3 NP_060440.2 NRDE-2, necessary for RNA interference, domain containing GGCACCAAATGACCTACAGGG 0.438000 45 82 0 0 0.009718 0 0 IGHG4 3503 broad.mit.edu 37 14 106091375 106091375 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:106091375C>T ENST00000390543.2 - 0 518 TGAACTGCTCCTCCCGCGGCT 0.592000 34 206 0 0 0.013726 0 0 FREM1 158326 broad.mit.edu 37 9 14759820 14759820 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:14759820C>T ENST00000380881.4 - 29 6102 c.5287G>A c.(5287-5289)Gaa>Aaa p.E1763K FREM1_ENST00000380880.3_Missense_Mutation_p.E1762K|FREM1_ENST00000380894.1_Missense_Mutation_p.E298K|FREM1_ENST00000422223.2_Missense_Mutation_p.E1762K|FREM1_ENST00000486223.1_5'UTR Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1762 Calx-beta. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) CTGATAATTTCCAAGGGCAAC 0.388000 27 51 0 0 0.006320 0 0 ATP13A4 84239 broad.mit.edu 37 3 193132532 193132532 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:193132532C>T ENST00000342695.4 - 26 3172 c.2850G>A c.(2848-2850)ctG>ctA p.L950L ATP13A4_ENST00000392443.3_Silent_p.L931L|ATP13A4_ENST00000400270.2_5'UTR NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 950 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) AGGCACCATTCAGATTCACTA 0.408000 8 29 0 0 0.004482 0 0 RBM27 54439 broad.mit.edu 37 5 145608560 145608560 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:145608560C>T ENST00000265271.5 + 4 521 c.355C>T c.(355-357)Cct>Tct p.P119S RBM27_ENST00000506502.1_Missense_Mutation_p.P119S NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 119 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAAGAAATATCCTAGTCCCCA 0.413000 18 45 0 0 0.008871 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43862502 43862502 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:43862502G>A ENST00000389420.3 - 8 1123 c.1124C>T c.(1123-1125)tCa>tTa p.S375L ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S375L NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 375 Peptidase M12B. proteinaceous extracellular matrix zinc ion binding p.S375L(2) breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) ACCTAAATATGATAAACCTGA 0.308000 30 18 0 0 0.003271 0 0 LMTK3 114783 broad.mit.edu 37 19 49001288 49001288 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:49001288C>T ENST00000600059.1 - 11 3265 c.3038G>A c.(3037-3039)aGg>aAg p.R1013K LMTK3_ENST00000270238.3_Missense_Mutation_p.R1042K lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) CTCCGTGTTCCTGGGGAATCT 0.662000 24 52 0 0 0.014323 0 0 SSTR5 6755 broad.mit.edu 37 16 1129933 1129933 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:1129933C>T ENST00000293897.4 + 1 1153 c.1065C>T c.(1063-1065)gcC>gcT p.A355A SSTR5_ENST00000397547.2_Silent_p.A355A|SSTR5_ENST00000562758.1_Intron NM_001053.3 NP_001044.1 P35346 SSR5_HUMAN somatostatin receptor 5 355 negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity endometrium(2)|lung(5)|prostate(1)|skin(1) 9 Hepatocellular(780;0.00369) Octreotide(DB00104) GCGCCGCAGCCAACGGGCTTA 0.716000 10 8 0 0 0.008291 0 0 MUC16 94025 broad.mit.edu 37 19 9060940 9060940 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9060940G>A ENST00000397910.4 - 3 26709 c.26506C>T c.(26506-26508)Cct>Tct p.P8836S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8838 Ser-rich.|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 ACATCCTCAGGACCTCTGCTC 0.527000 35 63 0 0 0.004878 0 0 AKAP9 10142 broad.mit.edu 37 7 91718797 91718797 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:91718797G>A ENST00000359028.2 + 38 9549 c.9324G>A c.(9322-9324)agG>agA p.R3108R AKAP9_ENST00000358100.2_Silent_p.R3054R|AKAP9_ENST00000356239.3_Silent_p.R3104R Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3108 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TGAATGGTAGGAAAATTACTC 0.393000 T BRAF papillary thyroid 7 42 0 0 0.001984 0 0 DIDO1 11083 broad.mit.edu 37 20 61513529 61513529 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:61513529G>A ENST00000266070.4 - 16 4104 c.3779C>T c.(3778-3780)tCg>tTg p.S1260L DIDO1_ENST00000395343.1_Missense_Mutation_p.S1260L NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1260 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) AGGCGGCGGCGACCCAGGAGG 0.617000 47 127 0 0 0.014410 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 161961 161961 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:161961C>T ENST00000283426.6 + 10 1533 c.1483C>T c.(1483-1485)Cag>Tag p.Q495* NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 495 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) GGAAATGGTCCAGGATTTCAG 0.597000 7 28 0 0 0.003080 0 0 OR8J1 219477 broad.mit.edu 37 11 56128269 56128269 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:56128269C>T ENST00000303039.3 + 1 579 c.547C>T c.(547-549)Cct>Tct p.P183S NM_001005205.2 NP_001005205.2 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, member 1 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) TGATAATGTTCCTCTGTTAGC 0.338000 11 34 0 0 0.008291 0 0 ABCA12 26154 broad.mit.edu 37 2 215833510 215833510 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:215833510C>T ENST00000272895.7 - 38 5931 c.5712G>A c.(5710-5712)ggG>ggA p.G1904G ABCA12_ENST00000389661.4_Silent_p.G1586G NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1904 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TCAAAGGCAGCCCAAAACTCC 0.343000 50 99 0 0 0.014410 0 0 CTGF 1490 broad.mit.edu 37 6 132270418 132270418 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:132270418C>T ENST00000367976.3 - 5 1236 c.1036G>A c.(1036-1038)Gga>Aga p.G346R NM_001901.2 NP_001892.1 P29279 CTGF_HUMAN connective tissue growth factor 346 Heparin-binding. cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding plasma membrane|proteinaceous extracellular matrix heparin binding|insulin-like growth factor binding breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 13 Breast(56;0.0602) GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169) GCCATGTCTCCGTACATCTTC 0.418000 29 63 0 0 0.013726 0 0 COL4A4 1286 broad.mit.edu 37 2 227907822 227907822 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:227907822G>A ENST00000396625.3 - 36 3575 c.3368C>T c.(3367-3369)cCt>cTt p.P1123L COL4A4_ENST00000329662.7_Missense_Mutation_p.P1123L NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1123 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) AGAGGAGCCAGGTGGCCCTGG 0.542000 13 23 0 0 0.003163 0 0 PIWIL1 9271 broad.mit.edu 37 12 130833935 130833935 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:130833935C>T ENST00000245255.3 + 8 1158 c.886C>T c.(886-888)Caa>Taa p.Q296* NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 296 PAZ. 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) ACATAAATTTCAAGAACAAGT 0.343000 5 11 0 0 0.001984 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 161927 161927 + Silent SNP G G A rs116463546 by1000genomes TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:161927G>A ENST00000283426.6 + 10 1499 c.1449G>A c.(1447-1449)gcG>gcA p.A483A NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 483 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) TACAGCTGGCGAAGGAGAACC 0.587000 12 27 0 0 0.013537 0 0 FAM105A 54491 broad.mit.edu 37 5 14607445 14607445 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:14607445G>A ENST00000274217.3 + 6 625 c.505G>A c.(505-507)Gaa>Aaa p.E169K NM_019018.2 NP_061891.1 Q9NUU6 F105A_HUMAN family with sequence similarity 105, member A 169 large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Lung NSC(4;0.00592) CAAGCTTCCTGAAAAACTGCT 0.368000 15 33 0 0 0.004990 0 0 BDNF 627 broad.mit.edu 37 11 27679880 27679880 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:27679880G>A ENST00000525528.1 - 1 1325 c.232C>T c.(232-234)Cgg>Tgg p.R78W BDNF_ENST00000395986.2_Missense_Mutation_p.R93W|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000420794.1_Missense_Mutation_p.R78W|BDNF_ENST00000532997.1_Missense_Mutation_p.R78W|BDNF_ENST00000314915.6_Missense_Mutation_p.R86W|BDNF_ENST00000438929.1_Missense_Mutation_p.R160W|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000530861.1_Missense_Mutation_p.R78W|BDNF_ENST00000395981.3_Missense_Mutation_p.R78W|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000533131.1_Missense_Mutation_p.R78W|BDNF_ENST00000356660.4_Missense_Mutation_p.R78W|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000418212.1_Missense_Mutation_p.R78W|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000525950.1_Missense_Mutation_p.R78W|BDNF-AS_ENST00000501176.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000584049.1_5'UTR|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000533246.1_Missense_Mutation_p.R78W|BDNF_ENST00000439476.2_Missense_Mutation_p.R78W|BDNF_ENST00000395978.3_Missense_Mutation_p.R78W|BDNF_ENST00000395980.2_Missense_Mutation_p.R78W|BDNF_ENST00000395983.3_Missense_Mutation_p.R78W NM_170735.5 NP_733931.1 P23560 BDNF_HUMAN brain-derived neurotrophic factor 78 extracellular region growth factor activity breast(1)|large_intestine(3)|lung(2) 6 TCATTGGGCCGAACTTTCTGG 0.502000 23 103 0 0 0.003330 0 0 CLIP4 79745 broad.mit.edu 37 2 29397296 29397296 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:29397296G>A ENST00000320081.5 + 15 2036 c.1781G>A c.(1780-1782)aGa>aAa p.R594K CLIP4_ENST00000401617.2_Missense_Mutation_p.R487K|CLIP4_ENST00000404424.1_Missense_Mutation_p.R594K|CLIP4_ENST00000401605.1_Missense_Mutation_p.R594K NM_024692.4 NP_078968.3 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, member 4 594 endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(172;0.155) ATTAACAGAAGAAATGCTTTT 0.348000 23 38 0 0 0.014323 0 0 MICAL1 64780 broad.mit.edu 37 6 109769148 109769148 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:109769148G>A ENST00000368952.4 - 14 2221 c.1931C>T c.(1930-1932)tCc>tTc p.S644F MICAL1_ENST00000358807.3_Missense_Mutation_p.S625F|MICAL1_ENST00000358577.3_Missense_Mutation_p.S539F Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 625 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) GGTCCCTGGGGAGGCCTGGCT 0.592000 9 37 0 0 0.008291 0 0 PLS1 5357 broad.mit.edu 37 3 142403152 142403152 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:142403152C>T ENST00000337777.3 + 8 1016 c.803C>T c.(802-804)cCc>cTc p.P268L PLS1_ENST00000457734.2_Missense_Mutation_p.P268L|PLS1_ENST00000497002.1_Missense_Mutation_p.P268L NM_002670.2 NP_002661.2 Q14651 PLSI_HUMAN plastin 1 268 Actin-binding 1.|CH 2. cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 27 AAGCTTTCTCCCGAGGAATTA 0.428000 12 35 0 0 0.001855 0 0 FLG2 388698 broad.mit.edu 37 1 152325322 152325322 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:152325322C>T ENST00000388718.5 - 3 5012 c.4940G>A c.(4939-4941)gGa>gAa p.G1647E FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1647 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) TCTCTGTCTTCCAGTTGTCCT 0.512000 75 195 0 0 0.014410 0 0 WEE1 7465 broad.mit.edu 37 11 9608075 9608075 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:9608075C>T ENST00000299613.6 + 9 1663 c.908C>T c.(907-909)cCg>cTg p.P303L WEE1_ENST00000450114.2_Missense_Mutation_p.P517L NM_001143976.1 NP_001137448.1 P30291 WEE1_HUMAN WEE1 G2 checkpoint kinase 517 Protein kinase. blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle nucleoplasm ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 23 all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484) GAACCTCTTCCGAGAAATGGA 0.403000 28 38 0 0 0.008361 0 0 EGFR 1956 broad.mit.edu 37 7 55259426 55259426 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:55259426G>A ENST00000275493.2 + 21 2661 c.2484G>A c.(2482-2484)ttG>ttA p.L828L EGFR_ENST00000454757.2_Silent_p.L775L|EGFR_ENST00000455089.1_Silent_p.L783L|EGFR_ENST00000442591.1_Intron NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 828 Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TGAACTACTTGGAGGACCGTC 0.542000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 14 60 0 0 0.004007 0 0 POLR1B 84172 broad.mit.edu 37 2 113316947 113316947 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:113316947C>T ENST00000263331.5 + 9 1988 c.1408C>T c.(1408-1410)Cgc>Tgc p.R470C POLR1B_ENST00000417433.2_Missense_Mutation_p.R414C|POLR1B_ENST00000498054.1_3'UTR|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000541869.1_Missense_Mutation_p.R508C|POLR1B_ENST00000537335.1_Missense_Mutation_p.R259C NM_019014.4 NP_061887.2 Q9H9Y6 RPA2_HUMAN polymerase (RNA) I polypeptide B, 128kDa 470 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 CTCCCATTTCCGCTGCGTGCA 0.517000 37 134 0 0 0.004878 0 0 TREML4 285852 broad.mit.edu 37 6 41197835 41197835 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:41197835C>T ENST00000341495.2 + 4 585 c.481C>T c.(481-483)Ccc>Tcc p.P161S TREML4_ENST00000448827.2_Missense_Mutation_p.P161S NM_198153.2 NP_937796.1 Q6UXN2 TRML4_HUMAN triggering receptor expressed on myeloid cells-like 4 161 extracellular region breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.196) CTCTGGCCATCCCTCCATCAA 0.537000 36 71 0 0 0.009718 0 0 DNAH5 1767 broad.mit.edu 37 5 13865808 13865808 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:13865808T>A ENST00000265104.4 - 27 4428 c.4324A>T c.(4324-4326)Att>Ttt p.I1442F CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1442 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) TCATTGTTAATTTTTTCAATA 0.318000 Kartagener syndrome 12 30 0 0 0.001855 0 0 ACRBP 84519 broad.mit.edu 37 12 6749294 6749294 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:6749294C>T ENST00000229243.2 - 8 1450 c.1357G>A c.(1357-1359)Gat>Aat p.D453N ACRBP_ENST00000542357.1_5'UTR|ACRBP_ENST00000414226.2_Missense_Mutation_p.D420N NM_032489.2 NP_115878.2 Q8NEB7 ACRBP_HUMAN acrosin binding protein 453 acrosomal vesicle|extracellular region NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1) 17 ACTCGGACATCTTCACAGCCT 0.567000 20 17 0 0 0.014323 0 0 SLC39A10 57181 broad.mit.edu 37 2 196581636 196581636 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:196581636G>A ENST00000409086.3 + 7 2247 c.1972G>A c.(1972-1974)Gga>Aga p.G658R SLC39A10_ENST00000359634.5_Missense_Mutation_p.G658R|SLC39A10_ENST00000541054.1_Missense_Mutation_p.G208R NM_001127257.1 NP_001120729.1 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), member 10 658 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) CTGTCATTCTGGATCCGATCT 0.488000 26 31 0 0 0.006320 0 0 CDH16 1014 broad.mit.edu 37 16 66947106 66947106 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:66947106C>T ENST00000299752.4 - 9 1175 c.982G>A c.(982-984)Gat>Aat p.D328N CDH16_ENST00000570262.1_Missense_Mutation_p.D248N|CDH16_ENST00000394055.3_Missense_Mutation_p.D328N|CDH16_ENST00000565796.1_Missense_Mutation_p.D328N|CDH16_ENST00000568632.1_Missense_Mutation_p.D231N NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 328 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) TCATTCTCATCCATCACCAGC 0.617000 OREG0007817 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CDH16|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 26 63 0 0 0.005443 0 0 INSR 3643 broad.mit.edu 37 19 7172349 7172349 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:7172349G>A ENST00000341500.5 - 5 1259 c.1220C>T c.(1219-1221)tCc>tTc p.S407F INSR_ENST00000302850.5_Missense_Mutation_p.S407F NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 407 activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCGGAAGAAGGAAAGTGACAC 0.488000 51 308 0 0 0.014410 0 0 CHDC2 286464 broad.mit.edu 37 X 36090074 36090074 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:36090074G>A ENST00000378660.1 + 3 364 c.176G>A c.(175-177)gGa>gAa p.G59E CHDC2_ENST00000313548.4_Missense_Mutation_p.G59E calponin homology domain containing 2 CCTGCAAAGGGAAACTTATTT 0.358000 11 10 0 0 0.008291 0 0 CADPS2 93664 broad.mit.edu 37 7 122221237 122221237 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:122221237C>T ENST00000334010.7 - 7 1752 c.1331G>A c.(1330-1332)gGa>gAa p.G444E CADPS2_ENST00000449022.2_Missense_Mutation_p.G444E|CADPS2_ENST00000476131.1_5'UTR|CADPS2_ENST00000313070.7_Missense_Mutation_p.G444E|CADPS2_ENST00000412584.2_Missense_Mutation_p.G444E NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 444 C2. 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 ACTCACCCTTCCCAGTTCTTT 0.453000 38 55 0 0 0.009718 0 0 KIF9 64147 broad.mit.edu 37 3 47286411 47286411 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:47286411C>T ENST00000335044.2 - 15 1741 c.1384G>A c.(1384-1386)Ggg>Agg p.G462R KIF9_ENST00000452770.2_Missense_Mutation_p.G462R|KIF9_ENST00000444589.2_Missense_Mutation_p.G462R|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000265529.3_Missense_Mutation_p.G462R|KIF9_ENST00000352910.4_Missense_Mutation_p.G369R|KIF9-AS1_ENST00000429315.3_RNA NM_001134878.1|NM_182902.3 NP_001128350.1|NP_878905.2 Q9HAQ2 KIF9_HUMAN kinesin family member 9 462 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2) 34 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) TCCACAAGCCCCGCCTACATA 0.542000 13 28 0 0 0.002450 0 0 GUCY2C 2984 broad.mit.edu 37 12 14781642 14781642 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:14781642C>T ENST00000261170.3 - 20 2323 c.2187G>A c.(2185-2187)gaG>gaA p.E729E NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 729 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 CTGGATCTTCCTCCCAACAGT 0.343000 31 24 0 0 0.003755 0 0 SERPINB3 6317 broad.mit.edu 37 18 61324206 61324206 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:61324206G>A ENST00000283752.5 - 7 770 c.627C>T c.(625-627)tcC>tcT p.S209S SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Intron NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 209 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 TCATCTGTATGGACTTGTATG 0.373000 7 18 0 0 0.003080 0 0 SCIN 85477 broad.mit.edu 37 7 12668822 12668822 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:12668822C>T ENST00000297029.5 + 9 1395 c.1294C>T c.(1294-1296)Ccc>Tcc p.P432S SCIN_ENST00000519209.1_Missense_Mutation_p.P185S|SCIN_ENST00000445618.2_Missense_Mutation_p.P185S NM_001112706.2 NP_001106177.1 Q9Y6U3 ADSV_HUMAN scinderin 432 Ca(2+)-dependent actin binding. actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 17 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) CTACACCTATCCCAGAGGACA 0.413000 29 70 0 0 0.010818 0 0 OR2M2 391194 broad.mit.edu 37 1 248343415 248343415 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:248343415C>T ENST00000359682.2 + 1 128 c.128C>T c.(127-129)tCt>tTt p.S43F NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 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;0.0245) ATGGGAAACTCTGTCATGGTT 0.527000 91 166 0 0 0.014410 0 0 OR52H1 390067 broad.mit.edu 37 11 5566366 5566366 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:5566366G>A ENST00000322653.4 - 1 413 c.388C>T c.(388-390)Cac>Tac p.H130Y HBG2_ENST00000380259.2_Intron NM_001005289.1 NP_001005289.1 Q8NGJ2 O52H1_HUMAN olfactory receptor, family 52, subfamily H, member 1 130 H -> R (in dbSNP:rs1566275). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCTACATAGTGATCAAATGCC 0.453000 12 25 0 0 0.013537 0 0 KCTD8 386617 broad.mit.edu 37 4 44176933 44176933 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:44176933C>T ENST00000360029.3 - 2 1579 c.1296G>A c.(1294-1296)gaG>gaA p.E432E NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 432 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 CACTTAGCTTCTCACAGACTT 0.413000 HNSCC(17;0.042) 72 57 0 0 0.014410 0 0 SDC3 9672 broad.mit.edu 37 1 31350045 31350045 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:31350045G>A ENST00000336798.7 - 1 1542 c.50C>T c.(49-51)tCc>tTc p.S17F SDC3_ENST00000471567.1_Intron|SDC3_ENST00000339394.6_Intron O75056 SDC3_HUMAN syndecan 3 349 integral to membrane cytoskeletal protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649) GAGAGCTAGGGAGCTGGGTGG 0.577000 9 16 0 0 0.004482 0 0 RNF113B 140432 broad.mit.edu 37 13 98828564 98828564 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:98828564C>T ENST00000267291.6 - 1 955 c.927G>A c.(925-927)gcG>gcA p.A309A FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000595437.1_Intron NM_178861.4 NP_849192.1 Q8IZP6 R113B_HUMAN ring finger protein 113B 309 nucleic acid binding|zinc ion binding p.A309A(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.13) TTTGCAGTTTCGCCATCAGTT 0.572000 26 46 0 0 0.008361 0 0 PLCE1 51196 broad.mit.edu 37 10 95892155 95892155 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:95892155G>A ENST00000260766.3 + 3 2065 c.1431G>A c.(1429-1431)ttG>ttA p.L477L PLCE1_ENST00000371380.2_Silent_p.L477L|PLCE1_ENST00000371385.3_Silent_p.L169L|PLCE1_ENST00000371375.1_Silent_p.L169L NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 477 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) CCACGTCTTTGGGAGCAAGAA 0.453000 9 47 0 0 0.006214 0 0 PDZD2 23037 broad.mit.edu 37 5 32000348 32000348 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:32000348G>A ENST00000438447.1 + 5 1613 c.1225G>A c.(1225-1227)Gga>Aga p.G409R PDZD2_ENST00000282493.3_Missense_Mutation_p.G409R O15018 PDZD2_HUMAN PDZ domain containing 2 409 PDZ 2. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CTCCGCCACGGGAATGGTGCA 0.557000 18 80 0 0 0.012319 0 0 RFX5 5993 broad.mit.edu 37 1 151314724 151314724 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:151314724C>T ENST00000290524.4 - 11 1967 c.1789G>A c.(1789-1791)Gag>Aag p.E597K RFX5_ENST00000368870.2_Missense_Mutation_p.E597K|RFX5_ENST00000452671.2_Missense_Mutation_p.E597K|RFX5_ENST00000452513.2_Missense_Mutation_p.E557K NM_000449.3|NM_001025603.1 NP_000440.1|NP_001020774.1 P48382 RFX5_HUMAN regulatory factor X, 5 (influences HLA class II expression) 597 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) AGCACATGCTCCTTTAAGTCT 0.463000 44 60 0 0 0.011902 0 0 SLC26A5 375611 broad.mit.edu 37 7 103061245 103061245 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:103061245C>T ENST00000306312.3 - 4 493 c.232G>A c.(232-234)Gaa>Aaa p.E78K SLC26A5_ENST00000393729.1_Missense_Mutation_p.E78K|SLC26A5_ENST00000393723.1_Missense_Mutation_p.E78K|SLC26A5_ENST00000432958.2_Missense_Mutation_p.E78K|SLC26A5_ENST00000393727.1_Missense_Mutation_p.E78K|SLC26A5_ENST00000393730.1_Missense_Mutation_p.E78K|SLC26A5_ENST00000393735.2_Missense_Mutation_p.E78K|SLC26A5_ENST00000339444.6_Missense_Mutation_p.E78K|SLC26A5_ENST00000356767.4_Missense_Mutation_p.E78K|SLC26A5_ENST00000354356.4_5'UTR NM_198999.2 NP_945350.1 P58743 S26A5_HUMAN solute carrier family 26 (anion exchanger), member 5 78 regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 AACACATATTCCTTGAATTTG 0.413000 22 61 0 0 0.003954 0 0 PTPRT 11122 broad.mit.edu 37 20 40877449 40877449 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:40877449C>T ENST00000373198.3 - 15 2482 c.2247G>A c.(2245-2247)caG>caA p.Q749Q PTPRT_ENST00000373190.1_Silent_p.Q730Q|PTPRT_ENST00000373184.1_Silent_p.Q730Q|PTPRT_ENST00000356100.2_Silent_p.Q749Q|PTPRT_ENST00000373187.1_Silent_p.Q730Q|PTPRT_ENST00000373193.3_Silent_p.Q730Q|PTPRT_ENST00000373201.1_Silent_p.Q730Q NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 730 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) TGTTAGAATTCTGGGTGGAGG 0.502000 10 18 0 0 0.010729 0 0 OCIAD2 132299 broad.mit.edu 37 4 48896040 48896040 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:48896040G>A ENST00000508632.1 - 5 480 c.248C>T c.(247-249)tCa>tTa p.S83L OCIAD2_ENST00000508069.2_5'UTR|OCIAD2_ENST00000273860.4_Missense_Mutation_p.S83L NM_001014446.1 NP_001014446.1 Q56VL3 OCAD2_HUMAN OCIA domain containing 2 83 OCIA. endosome kidney(1)|lung(3)|skin(1)|urinary_tract(1) 6 TTTGGGCAATGATCCAAATCT 0.338000 11 17 0 0 0.003163 0 0 RPS6KA4 8986 broad.mit.edu 37 11 64137230 64137230 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:64137230C>T ENST00000528057.1 + 14 1729 c.1641C>T c.(1639-1641)ttC>ttT p.F547F RPS6KA4_ENST00000294261.4_Intron|RPS6KA4_ENST00000334205.4_Silent_p.F554F NM_001006944.1 NP_001006945.1 O75676 KS6A4_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 4 554 Protein kinase 2. axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1) 13 ACTTCGGGTTCGCGCGGTTGC 0.706000 9 13 0 0 0.008291 0 0 EPHA2 1969 broad.mit.edu 37 1 16460021 16460021 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:16460021C>T ENST00000358432.5 - 10 1973 c.1819G>A c.(1819-1821)Gag>Aag p.E607K NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 607 Mediates interaction with ARHGEF16 and ELMO2. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) GGATGGATCTCGGTAGTGAAC 0.592000 25 34 0 0 0.003954 0 0 NMUR2 56923 broad.mit.edu 37 5 151784563 151784563 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:151784563C>T ENST00000255262.3 - 1 277 c.112G>A c.(112-114)Gga>Aga p.G38R NMUR2_ENST00000518933.1_Intron NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 38 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) CGCCGAGGTCCGCAGAGGAAG 0.522000 15 23 0 0 0.004007 0 0 PCLO 27445 broad.mit.edu 37 7 82585639 82585639 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:82585639C>T ENST00000423517.2 - 5 4967 c.4630G>A c.(4630-4632)Gaa>Aaa p.E1544K PCLO_ENST00000333891.8_Missense_Mutation_p.E1544K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1475 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 TGGCTGTCTTCCTGTTTATAC 0.408000 18 47 0 0 0.004990 0 0 KRT9 3857 broad.mit.edu 37 17 39727770 39727770 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:39727770C>T ENST00000246662.4 - 1 540 c.475G>A c.(475-477)Gaa>Aaa p.E159K KRT9_ENST00000588431.1_Intron NM_000226.3 NP_000217.2 P35527 K1C9_HUMAN keratin 9 159 Coil 1A.|Rod. MQELNSRLASYLDK -> HLGAGSTPITASQP (in Ref. 6; AAI21171). intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton p.E159K(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) GAATTGAGTTCCTGCATGGTG 0.527000 19 9 0 0 0.008871 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724495 38724495 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:38724495G>A ENST00000342213.2 - 1 1079 c.733C>T c.(733-735)Ccc>Tcc p.P245S NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 245 EGF-like. integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) CCGGGGCAGGGACACAACACA 0.617000 28 160 0 0 0.013726 0 0 SYNE1 23345 broad.mit.edu 37 6 152847286 152847286 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:152847286C>T ENST00000367255.5 - 5 755 c.154G>A c.(154-156)Gat>Aat p.D52N SYNE1_ENST00000341594.5_Missense_Mutation_p.D52N|SYNE1_ENST00000367253.4_Missense_Mutation_p.D52N|SYNE1_ENST00000413186.2_Missense_Mutation_p.D52N|SYNE1_ENST00000448038.1_Missense_Mutation_p.D52N|SYNE1_ENST00000367248.3_Missense_Mutation_p.D52N|SYNE1_ENST00000423061.1_Missense_Mutation_p.D52N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D52N|SYNE1_ENST00000466159.2_Missense_Mutation_p.D52N NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 52 Actin-binding.|CH 1. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCAAAAAGATCGTCCACCACC 0.423000 HNSCC(10;0.0054) 25 36 0 0 0.007291 0 0 HECW2 57520 broad.mit.edu 37 2 197184551 197184551 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:197184551C>T ENST00000260983.2 - 9 1245 c.1063G>A c.(1063-1065)Gag>Aag p.E355K HECW2_ENST00000409111.1_5'UTR NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 355 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 GGCATGTCCTCGTCATCGGAA 0.512000 12 37 0 0 0.013537 0 0 SGSM1 129049 broad.mit.edu 37 22 25264765 25264765 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:25264765G>A ENST00000400358.4 + 12 1291 c.1234G>A c.(1234-1236)Gat>Aat p.D412N SGSM1_ENST00000400359.4_Missense_Mutation_p.D412N NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 412 Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 CAAAGATGATGATGAGGCCAC 0.537000 36 61 0 0 0.004289 0 0 FBN2 2201 broad.mit.edu 37 5 127855039 127855039 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:127855039C>T ENST00000508053.1 - 11 1529 c.555G>A c.(553-555)caG>caA p.Q185Q FBN2_ENST00000262464.4_Silent_p.Q185Q|FBN2_ENST00000508989.1_Silent_p.Q152Q P35556 FBN2_HUMAN fibrillin 2 185 EGF-like 3. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GTCCACCATTCTGACATCCAT 0.433000 10 17 0 0 0.010729 0 0 NUP62 23636 broad.mit.edu 37 19 50412799 50412799 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:50412799G>A ENST00000596217.1 - 2 2153 c.266C>T c.(265-267)tCt>tTt p.S89F IL4I1_ENST00000595948.1_Intron|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597723.1_Missense_Mutation_p.S89F|NUP62_ENST00000413454.1_Missense_Mutation_p.S89F|NUP62_ENST00000597029.1_Missense_Mutation_p.S89F|NUP62_ENST00000352066.3_Missense_Mutation_p.S89F|CTC-326K19.6_ENST00000451973.1_3'UTR|NUP62_ENST00000422090.2_Missense_Mutation_p.S89F P37198 NUP62_HUMAN nucleoporin 62kDa 89 15 X 9 AA approximate repeats.|Thr-rich. carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2) 19 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) GATCCCCAAAGAAAATCCAGT 0.582000 48 90 0 0 0.014410 0 0 TNFSF15 9966 broad.mit.edu 37 9 117554687 117554687 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:117554687C>T ENST00000374045.4 - 3 414 c.301_splice c.e3+1 p.V101_splice NM_001204344.1|NM_005118.3 NP_001191273.1|NP_005109.2 O95150 TNF15_HUMAN tumor necrosis factor (ligand) superfamily, member 15 101 activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1) 11 GGAGGCTTACCTGTCAGGTGT 0.438000 6 21 0 0 0.004482 0 0 LRP1B 53353 broad.mit.edu 37 2 141083357 141083357 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:141083357G>A ENST00000389484.3 - 80 13285 c.12314C>T c.(12313-12315)tCa>tTa p.S4105L NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4105 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) AGAGACTACTGAATTAGAGCC 0.363000 TSP Lung(27;0.18) 7 19 0 0 0.001984 0 0 KLHL1 57626 broad.mit.edu 37 13 70535503 70535503 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:70535503C>T ENST00000377844.4 - 3 1513 c.754G>A c.(754-756)Gag>Aag p.E252K KLHL1_ENST00000545028.1_Missense_Mutation_p.E59K NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 252 BTB. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding p.E252K(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) ATTTTGATCTCCTCTTGCTTG 0.408000 12 18 0 0 0.002450 0 0 PRKG1 5592 broad.mit.edu 37 10 54040643 54040643 + Missense_Mutation SNP C C T rs78350819 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:54040643C>T ENST00000373980.4 + 13 1915 c.1498C>T c.(1498-1500)Ctc>Ttc p.L500F PRKG1-AS1_ENST00000452247.2_RNA|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.L473F|PRKG1_ENST00000373975.2_Missense_Mutation_p.L203F|PRKG1_ENST00000401604.2_Missense_Mutation_p.L485F NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 485 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) TTACAGGGACCTCAAGCCAGA 0.413000 11 28 0 0 0.008291 0 0 CIC 23152 broad.mit.edu 37 19 42798205 42798205 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:42798205C>T ENST00000572681.2 + 18 6945 c.6877C>T c.(6877-6879)Ctg>Ttg p.L2293L CIC_ENST00000160740.3_Silent_p.L1385L|CIC_ENST00000575354.2_Silent_p.L1387L Q96RK0 CIC_HUMAN capicua transcriptional repressor 1387 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) CCGGGCCATCCTGGGCTCTTA 0.637000 """Mis, F, S""" oligodendroglioma 34 60 0 0 0.012213 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072847 17072847 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:17072847G>A ENST00000359963.3 - 1 853 c.594C>T c.(592-594)ttC>ttT p.F198F NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 198 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GCTCAGGCTTGAAGCTGCCGT 0.602000 39 48 0 0 0.006230 0 0 MUC16 94025 broad.mit.edu 37 19 9077766 9077766 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9077766G>A ENST00000397910.4 - 3 9883 c.9680C>T c.(9679-9681)tCt>tTt p.S3227F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3228 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 CTTCCAAGGAGAATTTCTCAC 0.527000 47 122 0 0 0.010771 0 0 MIR519B 574469 broad.mit.edu 37 19 54198488 54198488 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:54198488G>A ENST00000385090.1 + 0 22 NR_030191.1 CCTCTAGAGGGAAGCGCTTTC 0.403000 25 67 0 0 0.009535 0 0 ZNF366 167465 broad.mit.edu 37 5 71756184 71756184 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:71756184C>T ENST00000318442.5 - 2 1630 c.1140G>A c.(1138-1140)ctG>ctA p.L380L NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 380 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) GGTGTCTCTTCAGCTGGGCCA 0.627000 8 23 0 0 0.006214 0 0 ADCK1 57143 broad.mit.edu 37 14 78365596 78365596 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:78365596T>C ENST00000238561.5 + 6 835 c.736T>C c.(736-738)Ttg>Ctg p.L246L ADCK1_ENST00000341211.5_Silent_p.L178L NM_020421.3 NP_065154.2 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 253 Protein kinase. extracellular region ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2) 25 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) TTTTGACTTCTTGAAGGTAGG 0.507000 18 72 0 0 0.014323 0 0 SEMA6C 10500 broad.mit.edu 37 1 151108594 151108594 + Silent SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:151108594A>C ENST00000341697.3 - 13 2843 c.1152T>G c.(1150-1152)tcT>tcG p.S384S Q9H3T2 SEM6C_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C 384 Sema. integral to membrane receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GGTCTCGGGAAGAGGAGAACA 0.587000 15 39 0 0 0.007413 0 0 ARHGEF3 50650 broad.mit.edu 37 3 56807801 56807801 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:56807801G>A ENST00000413728.2 - 2 701 c.158C>T c.(157-159)tCg>tTg p.S53L ARHGEF3_ENST00000497267.1_Missense_Mutation_p.S18L|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.S79L|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.S53L|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.S47L|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.S47L NM_001128616.1 NP_001122088.1 Q9NR81 ARHG3_HUMAN Rho guanine nucleotide exchange factor (GEF) 3 47 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193) GTTTGCTAGCGACGTGACTCG 0.463000 45 87 0 0 0.014410 0 0 RFX6 222546 broad.mit.edu 37 6 117237412 117237412 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:117237412C>T ENST00000332958.2 + 9 923 c.907C>T c.(907-909)Ctt>Ttt p.L303F RFX6_ENST00000471966.1_3'UTR NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 303 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TGACCATCTCCTTCCCCTGCT 0.348000 27 89 0 0 0.009535 0 0 FREM2 341640 broad.mit.edu 37 13 39343905 39343905 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:39343905C>T ENST00000280481.7 + 4 5817 c.5601C>T c.(5599-5601)ttC>ttT p.F1867F NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1867 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) CCTTGGAATTCCCCACAGTCG 0.532000 18 26 0 0 0.008871 0 0 PROSC 11212 broad.mit.edu 37 8 37633525 37633525 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:37633525C>T ENST00000328195.3 + 7 754 c.687C>T c.(685-687)ttC>ttT p.F229F NM_007198.3 NP_009129.1 O94903 PROSC_HUMAN proline synthetase co-transcribed homolog (bacterial) 229 pyridoxal phosphate binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1) 7 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) L-Proline(DB00172)|Pyridoxal Phosphate(DB00114) CCGCGGATTTCCAGCATGCGG 0.572000 27 66 0 0 0.003954 0 0 TTN 7273 broad.mit.edu 37 2 179456835 179456835 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179456835C>T ENST00000589042.1 - 302 60020 c.59796G>A c.(59794-59796)aaG>aaA p.K19932K TTN_ENST00000460472.2_Silent_p.K10867K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Silent_p.K10992K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.K17364K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.K11059K|TTN_ENST00000591111.1_Silent_p.K18291K|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18291 Fibronectin type-III 44. 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) GACTCTTTTTCTTTGATGTAG 0.473000 5 24 0 0 0.001168 0 0 VCX 26609 broad.mit.edu 37 X 7811740 7811740 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:7811740G>A ENST00000381059.3 + 3 523 c.304G>A c.(304-306)Gac>Aac p.D102N VCX_ENST00000341408.4_Missense_Mutation_p.D102N NM_013452.2 NP_038480.2 Q9H320 VCX1_HUMAN variable charge, X-linked 102 Glu-rich. chromatin organization|ribosome assembly|spermatogenesis nucleolus chromatin binding NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 10 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) GACCCAGCACGACCCCCTGAG 0.687000 51 44 0 0 0.014410 0 0 F2RL1 2150 broad.mit.edu 37 5 76128626 76128626 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:76128626C>T ENST00000296677.4 + 2 400 c.194C>T c.(193-195)tCt>tTt p.S65F NM_005242.4 NP_005233.3 P55085 PAR2_HUMAN coagulation factor II (thrombin) receptor-like 1 65 blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 13 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) GATGAGTTTTCTGCATCTGTC 0.458000 75 249 0 0 0.014410 0 0 GRHL2 79977 broad.mit.edu 37 8 102582566 102582566 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:102582566G>A ENST00000251808.3 + 5 1016 c.e5-1 GRHL2_ENST00000395927.1_Splice_Site NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) ATATTTTGCAGAAATTTCGGA 0.333000 22 88 0 0 0.004656 0 0 GLYAT 10249 broad.mit.edu 37 11 58477456 58477456 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:58477456G>A ENST00000344743.3 - 6 815 c.674C>T c.(673-675)aCt>aTt p.T225I GLYAT_ENST00000529732.1_Missense_Mutation_p.T225I NM_201648.2 NP_964011.2 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase 225 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) CATCTCTCCAGTCTGGTCCAT 0.562000 12 44 0 0 0.013537 0 0 OR2T11 127077 broad.mit.edu 37 1 248790397 248790397 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:248790397G>A ENST00000330803.2 - 1 94 c.33C>T c.(31-33)ctC>ctT p.L11L NM_001001964.1 NP_001001964.1 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene) 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(20)|skin(2) 28 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) GAAGCCCCAGGAGGGTGAAGT 0.522000 18 29 0 0 0.008871 0 0 NUP35 129401 broad.mit.edu 37 2 184016308 184016308 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:184016308C>T ENST00000295119.4 + 5 573 c.470C>T c.(469-471)cCt>cTt p.P157L NUP35_ENST00000409798.1_Missense_Mutation_p.P140L|NUP35_ENST00000541912.1_Missense_Mutation_p.P22L NM_138285.3 NP_612142.2 Q8NFH5 NUP53_HUMAN nucleoporin 35kDa 157 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2) 8 CAGTTGGATCCTTTTTATACT 0.398000 11 38 0 0 0.013537 0 0 PCLO 27445 broad.mit.edu 37 7 82583731 82583731 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:82583731C>T ENST00000423517.2 - 5 6875 c.6538G>A c.(6538-6540)Gac>Aac p.D2180N PCLO_ENST00000333891.8_Missense_Mutation_p.D2180N NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2111 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 GAAGGTGTGTCAGAGGGTGGG 0.443000 16 27 0 0 0.004990 0 0 BCO2 83875 broad.mit.edu 37 11 112085548 112085548 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:112085548C>T ENST00000357685.5 + 10 1531 c.1396C>T c.(1396-1398)Cct>Tct p.P466S BCO2_ENST00000393032.2_Missense_Mutation_p.P432S|BCO2_ENST00000438022.1_Missense_Mutation_p.P432S|BCO2_ENST00000361053.4_Missense_Mutation_p.P393S|BCO2_ENST00000532593.1_Missense_Mutation_p.P361S|BCO2_ENST00000531169.1_Missense_Mutation_p.P432S|BCO2_ENST00000526088.1_Missense_Mutation_p.P432S Q9BYV7 BCDO2_HUMAN beta-carotene oxygenase 2 466 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1) 16 CATTGAATTTCCTCAGATCTA 0.398000 16 40 0 0 0.006122 0 0 SLC15A2 6565 broad.mit.edu 37 3 121658222 121658222 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:121658222G>A ENST00000489711.1 + 20 2176 c.1788G>A c.(1786-1788)tgG>tgA p.W596* SLC15A2_ENST00000295605.2_Nonsense_Mutation_p.W565* NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 596 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) TTCAGGCCTGGAAGATTGAAG 0.448000 26 36 0 0 0.008361 0 0 PDK4 5166 broad.mit.edu 37 7 95222119 95222119 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:95222119C>T ENST00000005178.5 - 4 679 c.482G>A c.(481-483)cGa>cAa p.R161Q NM_002612.3 NP_002603.1 Q16654 PDK4_HUMAN pyruvate dehydrogenase kinase, isozyme 4 161 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity p.R161Q(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0151) CATGTAAAATCGATCCAAGAA 0.383000 34 30 0 0 0.013726 0 0 SPTBN5 51332 broad.mit.edu 37 15 42166142 42166142 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:42166142G>A ENST00000320955.6 - 25 5018 c.4791C>T c.(4789-4791)atC>atT p.I1597I NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 1597 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) ACTGCTCCACGATGTGTTGGG 0.647000 6 22 0 0 0.001168 0 0 CPEB3 22849 broad.mit.edu 37 10 93841190 93841190 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:93841190C>T ENST00000412050.4 - 9 1802 c.1714G>A c.(1714-1716)Gag>Aag p.E572K CPEB3_ENST00000265997.4_Missense_Mutation_p.E586K NM_001178137.1 NP_001171608.1 Q8NE35 CPEB3_HUMAN cytoplasmic polyadenylation element binding protein 3 586 RRM 2. nucleotide binding|RNA binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0869) TACTTCAGCTCTGGGTCCGTA 0.478000 6 29 0 0 0.001984 0 0 SYNE1 23345 broad.mit.edu 37 6 152823854 152823854 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:152823854C>T ENST00000367255.5 - 10 1403 c.802G>A c.(802-804)Gag>Aag p.E268K SYNE1_ENST00000341594.5_Missense_Mutation_p.E268K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E268K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E268K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E275K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E275K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E275K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E268K|SYNE1_ENST00000466159.2_Missense_Mutation_p.E268K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 268 Actin-binding.|CH 2. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATAGATTTCTCATCTGGTTTA 0.348000 HNSCC(10;0.0054) 16 23 0 0 0.006122 0 0 NKX3-1 4824 broad.mit.edu 37 8 23538787 23538787 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:23538787G>A ENST00000380871.4 - 2 689 c.652C>T c.(652-654)Cct>Tct p.P218S NKX3-1_ENST00000523261.1_Missense_Mutation_p.P143S NM_006167.3 NP_006158.2 Q99801 NKX31_HUMAN NK3 homeobox 1 218 negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter nucleus estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding large_intestine(3)|lung(4)|prostate(5)|skin(2) 14 Prostate(55;0.114) Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708) GGGTAGTAAGGATAGCTGTTA 0.557000 23 50 0 0 0.014323 0 0 FAM184A 79632 broad.mit.edu 37 6 119332557 119332557 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:119332557C>T ENST00000338891.7 - 6 2013 c.1570G>A c.(1570-1572)Gaa>Aaa p.E524K FAM184A_ENST00000522284.1_Missense_Mutation_p.E404K|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Missense_Mutation_p.E524K|FAM184A_ENST00000368475.4_Missense_Mutation_p.E404K|FAM184A_ENST00000352896.5_Missense_Mutation_p.E404K NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 524 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 TTATCCTCTTCCAGGTTTAGT 0.303000 7 25 0 0 0.001984 0 0 MCTP2 55784 broad.mit.edu 37 15 94899495 94899495 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:94899495C>T ENST00000357742.4 + 8 1135 c.1135C>T c.(1135-1137)Cag>Tag p.Q379* MCTP2_ENST00000451018.3_Nonsense_Mutation_p.Q379*|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Nonsense_Mutation_p.Q379*|MCTP2_ENST00000557742.1_5'UTR NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 379 C2 2. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) GATGTTTGTCCAGTTAAAACT 0.338000 14 32 0 0 0.004007 0 0 WFDC2 10406 broad.mit.edu 37 20 44108311 44108311 + Silent SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:44108311A>C ENST00000217425.5 + 3 279 c.253A>C c.(253-255)Agg>Cgg p.R85R WFDC2_ENST00000339946.3_Intron|WFDC2_ENST00000342873.3_5'UTR|WFDC2_ENST00000372676.3_Intron|WFDC2_ENST00000488143.1_3'UTR Q14508 WFDC2_HUMAN WAP four-disulfide core domain 2 0 WAP 2. proteolysis|spermatogenesis extracellular space serine-type endopeptidase inhibitor activity lung(1) 1 Myeloproliferative disorder(115;0.0122) aaagacacggaggctctggga 0.483000 25 44 0 0 0.007291 0 0 OR13F1 138805 broad.mit.edu 37 9 107267146 107267146 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:107267146G>A ENST00000334726.2 + 1 692 c.603G>A c.(601-603)gtG>gtA p.V201V NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 201 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 TCATGCTGGTGATCAGTGTAC 0.433000 37 113 0 0 0.007835 0 0 PTPRD 5789 broad.mit.edu 37 9 8500885 8500885 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:8500885G>A ENST00000381196.4 - 21 2540 c.1997C>T c.(1996-1998)cCt>cTt p.P666L PTPRD_ENST00000358503.5_Missense_Mutation_p.P653L|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.P666L|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.P653L|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.P666L NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 666 Fibronectin type-III 4. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AGTGTCCGAAGGAATTCCCAA 0.483000 TSP Lung(15;0.13) 23 109 0 0 0.003330 0 0 COL21A1 81578 broad.mit.edu 37 6 56044403 56044403 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:56044403C>T ENST00000244728.5 - 3 1010 c.613G>A c.(613-615)Gaa>Aaa p.E205K COL21A1_ENST00000370819.1_Missense_Mutation_p.E205K|COL21A1_ENST00000535941.1_Missense_Mutation_p.E205K NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 205 VWFA. 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) TTCATCACTTCCCTTATTTTG 0.323000 7 31 0 0 0.004482 0 0 GPR171 29909 broad.mit.edu 37 3 150917163 150917163 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:150917163C>T ENST00000309180.5 - 3 241 c.11G>A c.(10-12)aGt>aAt p.S4N MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron NM_013308.3 NP_037440.3 O14626 GP171_HUMAN G protein-coupled receptor 171 4 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 15 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GAAGAACGAACTGTTTGTCAT 0.338000 14 32 0 0 0.003163 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475301 140475301 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140475301G>A ENST00000194155.4 + 1 1075 c.927G>A c.(925-927)ctG>ctA p.L309L NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 309 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACAGAAACTGGATTTCGAAT 0.408000 12 33 0 0 0.001855 0 0 PCLO 27445 broad.mit.edu 37 7 82544610 82544610 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:82544610G>A ENST00000423517.2 - 7 13029 c.12692C>T c.(12691-12693)tCc>tTc p.S4231F PCLO_ENST00000437081.1_Missense_Mutation_p.S951F|PCLO_ENST00000333891.8_Missense_Mutation_p.S4231F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4162 Ser-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.S4231F(1) 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 TGCCCTGGAGGAAATGCCACC 0.388000 10 27 0 0 0.013537 0 0 KMT2C 58508 broad.mit.edu 37 7 151874081 151874081 + Silent SNP G G A rs141305805 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:151874081G>A ENST00000355193.2 - 38 8675 c.8457C>T c.(8455-8457)acC>acT p.T2819T KMT2C_ENST00000262189.6_Silent_p.T2819T lysine (K)-specific methyltransferase 2C TTACCTCATTGGTAACAGTGG 0.333000 23 54 0 0 0.003954 0 0 CACNG2 10369 broad.mit.edu 37 22 36960533 36960533 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:36960533C>T ENST00000300105.6 - 4 1818 c.837G>A c.(835-837)aaG>aaA p.K279K NM_006078.3 NP_006069.1 Q9Y698 CCG2_HUMAN calcium channel, voltage-dependent, gamma subunit 2 279 membrane depolarization|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 protein binding|voltage-gated calcium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 TGGTGGCGGCCTTCAGGGGGT 0.607000 39 55 0 0 0.009718 0 0 SPTAN1 6709 broad.mit.edu 37 9 131390214 131390214 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:131390214C>T ENST00000372739.3 + 51 6810 c.6700C>T c.(6700-6702)Ctc>Ttc p.L2234F SPTAN1_ENST00000358161.5_Intron|SPTAN1_ENST00000372731.4_Missense_Mutation_p.L2229F NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 2229 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GACATACCTCCTCGATGGGTT 0.567000 68 274 0 0 0.014410 0 0 LRIT2 340745 broad.mit.edu 37 10 85984737 85984737 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:85984737C>T ENST00000372113.4 - 2 249 c.244G>A c.(244-246)Gaa>Aaa p.E82K LRIT2_ENST00000538192.1_Missense_Mutation_p.E82K NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 82 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 CAGAGGTATTCCAAGGTGCTC 0.473000 22 50 0 0 0.010504 0 0 SPINK5 11005 broad.mit.edu 37 5 147477514 147477514 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:147477514G>A ENST00000359874.3 + 11 1040 c.967G>A c.(967-969)Ggg>Agg p.G323R SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000398454.1_Missense_Mutation_p.G323R|SPINK5_ENST00000256084.7_Missense_Mutation_p.G323R NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 323 Kazal-like 5. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGTCCAGATGGGAAAATGCA 0.368000 8 17 0 0 0.006214 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37547012 37547012 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:37547012G>A ENST00000299824.1 + 11 1596 c.1407G>A c.(1405-1407)tgG>tgA p.W469* PPP1R16B_ENST00000373331.2_Nonsense_Mutation_p.W427* NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 469 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) CCCCGCCCTGGAGCAGCTACA 0.637000 27 52 0 0 0.003954 0 0 SYNGR2 9144 broad.mit.edu 37 17 76166954 76166954 + Missense_Mutation SNP C C G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:76166954C>G ENST00000225777.3 + 2 215 c.156C>G c.(154-156)caC>caG p.H52Q SYNGR2_ENST00000590201.1_5'UTR|SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000589711.1_Intron|SYNGR2_ENST00000585591.1_Missense_Mutation_p.H52Q|SYNGR2_ENST00000588282.1_Missense_Mutation_p.H52Q O43760 SNG2_HUMAN synaptogyrin 2 52 MARVEL. integral to plasma membrane endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1) 7 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994) GCAATGCCCACGAGTCTAAGC 0.617000 88 55 0 0 0.014410 0 0 CLSTN2 64084 broad.mit.edu 37 3 140122557 140122557 + Missense_Mutation SNP C C T rs150165907 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:140122557C>T ENST00000458420.3 + 3 509 c.319C>T c.(319-321)Cgt>Tgt p.R107C NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 107 Cadherin 1. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 GGGCCGGCTCCGTGCCAAGAG 0.562000 HNSCC(16;0.037) 42 86 0 0 0.008740 0 0 VWA7 80737 broad.mit.edu 37 6 31734953 31734953 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:31734953G>A ENST00000375686.3 - 13 2101 c.1864C>T c.(1864-1866)Ctg>Ttg p.L622L VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Silent_p.L622L|VWA7_ENST00000447450.1_Silent_p.L622L NM_025258.2 NP_079534.2 Q9Y334 G7C_HUMAN von Willebrand factor A domain containing 7 622 extracellular region GGCTGAGTCAGGGGGTAGAGG 0.478000 70 164 0 0 0.014410 0 0 FLG 2312 broad.mit.edu 37 1 152282675 152282675 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:152282675C>T ENST00000368799.1 - 3 4722 c.4687G>A c.(4687-4689)Gaa>Aaa p.E1563K FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1563 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) GTGGAAGGTTCATGGTGACGT 0.587000 Ichthyosis 80 144 0 0 0.014410 0 0 ZNF804A 91752 broad.mit.edu 37 2 185798363 185798363 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:185798363C>T ENST00000302277.6 + 3 883 c.289C>T c.(289-291)Cga>Tga p.R97* NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 97 intracellular zinc ion binding p.R97*(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 GGAATTTGCTCGAAATGTAGC 0.368000 5 16 0 0 0.000602 0 0 PREP 5550 broad.mit.edu 37 6 105726130 105726130 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:105726130C>T ENST00000369110.3 - 15 2214 c.2022G>A c.(2020-2022)gtG>gtA p.V674V NM_002726.4 NP_002717.3 P48147 PPCE_HUMAN prolyl endopeptidase 674 proteolysis serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) CCTTGGTGTCCACGTGGATAA 0.597000 17 36 0 0 0.004007 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480638 140480638 + Missense_Mutation SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140480638A>C ENST00000231130.2 + 1 405 c.405A>C c.(403-405)gaA>gaC p.E135D AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 135 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) TATTCTTTGAAAATGAAATGC 0.398000 22 34 0 0 0.012319 0 0 MIR873 100126316 broad.mit.edu 37 9 28888890 28888890 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:28888890C>T ENST00000401120.1 - 0 63 NR_030618.1 TGGGTGTTCCCGGGAACTCAT 0.428000 5 24 0 0 0.000602 0 0 OR8D2 283160 broad.mit.edu 37 11 124189845 124189845 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:124189845C>T ENST00000357438.2 - 1 339 c.249G>A c.(247-249)gtG>gtA p.V83V NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) GAACAAAGTTCACCAGCATCT 0.388000 4 24 0 0 0.009096 0 0 RP1 6101 broad.mit.edu 37 8 55539665 55539665 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:55539665G>A ENST00000220676.1 + 4 3371 c.3223G>A c.(3223-3225)Gaa>Aaa p.E1075K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1075 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AGATCCTATAGAAGAGGAAAC 0.403000 16 32 0 0 0.003163 0 0 TEX15 56154 broad.mit.edu 37 8 30701332 30701332 + Silent SNP T T G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:30701332T>G ENST00000256246.2 - 1 5276 c.5202A>C c.(5200-5202)ccA>ccC p.P1734P NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1734 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) GAAATCCACGTGGTTTTCCAA 0.363000 9 39 0 0 0.006214 0 0 POM121L12 285877 broad.mit.edu 37 7 53103598 53103598 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:53103598C>T ENST00000408890.4 + 1 250 c.234C>T c.(232-234)atC>atT p.I78I NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 78 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCCACCTCATCGAGGTGCGGC 0.716000 15 30 0 0 0.006122 0 0 PLCZ1 89869 broad.mit.edu 37 12 18836234 18836234 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:18836234G>A ENST00000266505.7 - 15 2029 c.1766C>T c.(1765-1767)tCc>tTc p.S589F PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000539875.1_Missense_Mutation_p.S396F|PLCZ1_ENST00000538330.1_Missense_Mutation_p.S371F|PLCZ1_ENST00000447925.2_Missense_Mutation_p.S587F|PLCZ1_ENST00000534932.1_Missense_Mutation_p.S70F|PLCZ1_ENST00000435379.1_Missense_Mutation_p.S394F Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 589 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) ACCCATTCTGGAAAACAGAGG 0.388000 47 20 0 0 0.014410 0 0 PCLO 27445 broad.mit.edu 37 7 82584822 82584822 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:82584822G>A ENST00000423517.2 - 5 5784 c.5447C>T c.(5446-5448)gCt>gTt p.A1816V PCLO_ENST00000333891.8_Missense_Mutation_p.A1816V NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1747 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 TCTTCTCTGAGCTCGAAGTTC 0.408000 36 109 0 0 0.004289 0 0 PTGER2 5732 broad.mit.edu 37 14 52781482 52781482 + Silent SNP C C T rs143268571 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:52781482C>T ENST00000245457.5 + 1 370 c.216C>T c.(214-216)acC>acT p.T72T PTGER2_ENST00000557436.1_Intron NM_000956.3 NP_000947.2 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 72 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) TGCTGGTGACCGAGCTGGTGT 0.692000 21 31 0 0 0.014323 0 0 COBL 23242 broad.mit.edu 37 7 51094344 51094344 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:51094344C>T ENST00000395542.2 - 13 3833 c.3649G>A c.(3649-3651)Gag>Aag p.E1217K COBL_ENST00000265136.7_Missense_Mutation_p.E1135K O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 1135 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) GGCCTGCCCTCCCCGGTGTGT 0.547000 47 77 0 0 0.014410 0 0 RBP3 5949 broad.mit.edu 37 10 48390152 48390152 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:48390152G>A ENST00000224600.4 - 1 839 c.726C>T c.(724-726)atC>atT p.I242I NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 242 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GGATGTGCGCGATGTCCTCGG 0.647000 7 20 0 0 0.003080 0 0 NOS3 4846 broad.mit.edu 37 7 150703536 150703536 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:150703536G>A ENST00000297494.3 + 15 2131 c.1774G>A c.(1774-1776)Gag>Aag p.E592K NOS3_ENST00000461406.1_Missense_Mutation_p.E386K NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 592 Flavodoxin-like. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) TGCCCTGATGGAGATGTCCGG 0.522000 60 101 0 0 0.014410 0 0 CUZD1 50624 broad.mit.edu 37 10 124600823 124600823 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:124600823C>T ENST00000368904.1 - 4 1053 c.104G>A c.(103-105)aGt>aAt p.S35N CUZD1_ENST00000392790.1_Missense_Mutation_p.S35N|CUZD1_ENST00000545804.1_Missense_Mutation_p.S35N Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 35 CUB 1. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) ACCCCCTAGACTGACTGTGCA 0.493000 4 37 0 0 0.000602 0 0 GP2 2813 broad.mit.edu 37 16 20328586 20328586 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:20328586G>A ENST00000302555.5 - 8 1514 c.1365C>T c.(1363-1365)ttC>ttT p.F455F GP2_ENST00000341642.5_Silent_p.F308F|GP2_ENST00000381360.5_Silent_p.F311F|GP2_ENST00000381362.4_Silent_p.F458F P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 458 ZP. anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 CACAATGCAGGAAAACTAGGT 0.483000 8 28 0 0 0.004482 0 0 DNAH9 1770 broad.mit.edu 37 17 11583117 11583117 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:11583117T>C ENST00000262442.3 + 18 3465 c.3397T>C c.(3397-3399)Tta>Cta p.L1133L DNAH9_ENST00000454412.2_Silent_p.L1133L NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1133 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) TGAGAGCGGCTTACTCAAGAA 0.433000 36 46 0 0 0.008740 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820805 35820805 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:35820805G>A ENST00000399989.1 + 2 771 c.492G>A c.(490-492)atG>atA p.M164I MAGEB16_ENST00000399992.1_Missense_Mutation_p.M196I|MAGEB16_ENST00000399987.1_Missense_Mutation_p.M164I|MAGEB16_ENST00000399988.1_Missense_Mutation_p.M164I|MAGEB16_ENST00000399985.1_Missense_Mutation_p.M164I NM_001099921.1 NP_001093391.1 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 164 MAGE. breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 ACCTAGAGATGATATTTGGCC 0.468000 23 40 0 0 0.003330 0 0 MAP3K9 4293 broad.mit.edu 37 14 71206780 71206780 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:71206780G>A ENST00000554752.2 - 7 1668 c.1669C>T c.(1669-1671)Cct>Tct p.P557S MAP3K9_ENST00000381250.4_Missense_Mutation_p.P557S|MAP3K9_ENST00000555993.2_Missense_Mutation_p.P557S|MAP3K9_ENST00000554146.1_Missense_Mutation_p.P294S|MAP3K9_ENST00000553414.1_Missense_Mutation_p.P251S P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 557 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) CGAAGGCGAGGAATGATGGTG 0.567000 24 32 0 0 0.002780 0 0 MROH2B 133558 broad.mit.edu 37 5 41058294 41058294 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:41058294G>A ENST00000399564.4 - 7 1077 c.627C>T c.(625-627)atC>atT p.I209I MROH2B_ENST00000506092.2_5'UTR NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GGGCCTTAACGATGCTCAAAG 0.512000 7 12 0 0 0.003080 0 0 RGS9BP 388531 broad.mit.edu 37 19 33167782 33167782 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:33167782G>A ENST00000334176.3 + 1 1470 c.613G>A c.(613-615)Ggt>Agt p.G205S NM_207391.2 NP_997274.2 Q6ZS82 R9BP_HUMAN regulator of G protein signaling 9 binding protein 205 negative regulation of signal transduction integral to membrane central_nervous_system(1)|lung(2) 3 Esophageal squamous(110;0.137) GCGCGGGGGGGGTTGCGACCC 0.741000 5 23 0 0 0.001168 0 0 CRB1 23418 broad.mit.edu 37 1 197390629 197390629 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:197390629C>T ENST00000367400.3 + 6 1806 c.1671C>T c.(1669-1671)ttC>ttT p.F557F CRB1_ENST00000535699.1_Silent_p.F488F|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Silent_p.F557F|CRB1_ENST00000543483.1_Silent_p.F256F|CRB1_ENST00000544212.1_Silent_p.F38F|CRB1_ENST00000367399.2_Silent_p.F445F NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 557 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TGCTTCTGTTCATTTCCCACA 0.448000 38 83 0 0 0.011902 0 0 PTPRS 5802 broad.mit.edu 37 19 5220313 5220313 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:5220313G>A ENST00000372412.4 - 21 3743 c.3510C>T c.(3508-3510)ttC>ttT p.F1170F PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Silent_p.F1165F|PTPRS_ENST00000592099.1_Silent_p.F738F|PTPRS_ENST00000588012.1_Silent_p.F1147F|PTPRS_ENST00000587303.1_Silent_p.F1169F|PTPRS_ENST00000353284.2_Silent_p.F738F|PTPRS_ENST00000348075.2_Silent_p.F1147F|PTPRS_ENST00000357368.4_Silent_p.F1169F Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1169 cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GCGGGGTCAGGAATTGGCCTC 0.582000 21 26 0 0 0.004656 0 0 RYR2 6262 broad.mit.edu 37 1 237660052 237660052 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:237660052G>A ENST00000366574.2 + 20 2520 c.2203_splice c.e20+1 p.G735_splice RYR2_ENST00000542537.1_Splice_Site_p.G719_splice|RYR2_ENST00000360064.6_Splice_Site_p.G733_splice NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 735 B30.2/SPRY 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCTCTGGTCAGGTACGTACTA 0.468000 29 150 0 0 0.009535 0 0 ARHGAP28 79822 broad.mit.edu 37 18 6908965 6908965 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:6908965T>C ENST00000419673.2 + 16 1777 c.1560T>C c.(1558-1560)ggT>ggC p.G520G ARHGAP28_ENST00000531294.1_Silent_p.G515G|ARHGAP28_ENST00000383472.4_Silent_p.G679G|ARHGAP28_ENST00000314319.3_Silent_p.G520G NM_001010000.2 NP_001010000.1 B4DXL2 B4DXL2_HUMAN Rho GTPase activating protein 28 502 signal transduction intracellular breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 37 Colorectal(10;0.168) TCAGTCATGGTTCATCAGAAT 0.284000 9 38 0 0 0.006214 0 0 PCDHA9 9752 broad.mit.edu 37 5 140228407 140228407 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140228407C>T ENST00000378122.3 + 1 1051 c.327C>T c.(325-327)atC>atT p.I109I PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.I109I|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron 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) TGGAGGTGATCGTAGACAGGC 0.542000 37 55 0 0 0.006999 0 0 ZCCHC18 644353 broad.mit.edu 37 X 103359773 103359773 + Missense_Mutation SNP G G C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:103359773G>C ENST00000537356.2 + 1 971 c.971G>C c.(970-972)aGt>aCt p.S324T SLC25A53_ENST00000357421.4_Intron|ZCCHC18_ENST00000422784.1_Intron NM_001143978.1 NP_001137450.1 P0CG32 ZCC18_HUMAN zinc finger, CCHC domain containing 18 324 nucleic acid binding|zinc ion binding CTTTCTACCAGTGGTGGTTCT 0.517000 2 0 0 0 0.004672 0 0 PRUNE2 158471 broad.mit.edu 37 9 79325895 79325895 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:79325895G>A ENST00000428286.1 - 8 1418 c.218C>T c.(217-219)aCc>aTc p.T73I PRUNE2_ENST00000376718.3_Missense_Mutation_p.T432I Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 432 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GCTCCTAATGGTAGCCAGTCC 0.547000 4 24 0 0 0.000602 0 0 NPHP4 261734 broad.mit.edu 37 1 5923956 5923956 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:5923956G>A ENST00000378156.4 - 29 4399 c.4134C>T c.(4132-4134)tcC>tcT p.S1378S NPHP4_ENST00000478423.2_5'UTR NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephronophthisis 4 1378 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) ACACCTGGAAGGAGTCCTCTC 0.602000 12 41 0 0 0.010729 0 0 VRTN 55237 broad.mit.edu 37 14 74824241 74824241 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:74824241C>T ENST00000256362.4 + 2 996 c.755C>T c.(754-756)cCt>cTt p.P252L NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 252 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 GAAGGTGCCCCTGGCGTGGCC 0.652000 22 29 0 0 0.003330 0 0 LVRN 206338 broad.mit.edu 37 5 115319033 115319033 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:115319033C>T ENST00000357872.4 + 2 869 c.745C>T c.(745-747)Cct>Tct p.P249S AQPEP_ENST00000395528.2_5'UTR NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 249 proteolysis integral to membrane metallopeptidase activity|zinc ion binding GTATGTTTTCCCTTGTTTTGA 0.398000 3 17 0 0 0.004672 0 0 GLIS3 169792 broad.mit.edu 37 9 4118600 4118600 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:4118600G>A ENST00000324333.10 - 3 606 c.413C>T c.(412-414)tCc>tTc p.S138F GLIS3_ENST00000381971.3_Missense_Mutation_p.S293F NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 138 Ser-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) GGCCGAGTGGGACCTGGTGGA 0.552000 11 91 0 0 0.010729 0 0 ACER2 340485 broad.mit.edu 37 9 19423880 19423880 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:19423880C>T ENST00000340967.2 + 2 155 c.129C>T c.(127-129)ttC>ttT p.F43F ACER2_ENST00000380376.1_5'UTR NM_001010887.2 NP_001010887.2 Q5QJU3 ACER2_HUMAN alkaline ceramidase 2 43 ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process integral to Golgi membrane ceramidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 13 TCTTATTTTTCATTTTACCGC 0.373000 28 36 0 0 0.006320 0 0 GAS2L2 246176 broad.mit.edu 37 17 34074268 34074268 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:34074268G>A ENST00000254466.6 - 5 879 c.852C>T c.(850-852)ttC>ttT p.F284F GAS2L2_ENST00000587565.1_Silent_p.F268F NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 284 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GGGGCTTCAGGAAGCTGCCTG 0.597000 106 73 0 0 0.014410 0 0 DYSF 8291 broad.mit.edu 37 2 71741043 71741043 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:71741043G>A ENST00000258104.3 + 6 932 c.655G>A c.(655-657)Gat>Aat p.D219N DYSF_ENST00000410020.3_Missense_Mutation_p.D251N|DYSF_ENST00000413539.2_Missense_Mutation_p.D250N|DYSF_ENST00000409651.1_Missense_Mutation_p.D251N|DYSF_ENST00000409366.1_Missense_Mutation_p.D220N|DYSF_ENST00000429174.2_Missense_Mutation_p.D219N|DYSF_ENST00000409582.3_Missense_Mutation_p.D250N|DYSF_ENST00000394120.2_Missense_Mutation_p.D220N|DYSF_ENST00000410041.1_Missense_Mutation_p.D251N|DYSF_ENST00000409744.1_Missense_Mutation_p.D220N|DYSF_ENST00000409762.1_Missense_Mutation_p.D250N NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 219 C2 2. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CAAACCGCAGGATTTCCAGGT 0.572000 7 16 0 0 0.004482 0 0 OR4X2 119764 broad.mit.edu 37 11 48267363 48267363 + Silent SNP C C T rs144663280 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:48267363C>T ENST00000302329.3 + 1 756 c.708C>T c.(706-708)ttC>ttT p.F236F NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F236F(2) breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 GGTCCCATTTCGCTGTGGTTA 0.522000 14 23 0 0 0.002450 0 0 TTN 7273 broad.mit.edu 37 2 179477637 179477637 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179477637C>T ENST00000589042.1 - 265 50035 c.49811G>A c.(49810-49812)gGg>gAg p.G16604E TTN_ENST00000460472.2_Missense_Mutation_p.G7539E|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G7664E|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G14036E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G7731E|TTN_ENST00000591111.1_Missense_Mutation_p.G14963E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14963 Fibronectin type-III 20. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGTGGGAACCCCTTCCGCCAC 0.488000 15 25 0 0 0.002450 0 0 GKAP1 80318 broad.mit.edu 37 9 86403586 86403586 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:86403586G>A ENST00000376371.2 - 5 768 c.368C>T c.(367-369)tCt>tTt p.S123F GKAP1_ENST00000376365.3_Missense_Mutation_p.S123F NM_025211.3 NP_079487.2 Q5VSY0 GKAP1_HUMAN G kinase anchoring protein 1 123 signal transduction Golgi apparatus endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 14 AAACATTTCAGATGTCAGCTA 0.289000 33 60 0 0 0.006999 0 0 YLPM1 56252 broad.mit.edu 37 14 75264365 75264365 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:75264365C>T ENST00000325680.7 + 5 2489 c.2365C>T c.(2365-2367)Cgc>Tgc p.R789C YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.R594C NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 594 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) TGAAGGAAATCGCCCCGATGG 0.488000 5 6 0 0 0.000602 0 0 MUC16 94025 broad.mit.edu 37 19 9057093 9057093 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9057093G>A ENST00000397910.4 - 3 30556 c.30353C>T c.(30352-30354)tCc>tTc p.S10118F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10120 Ser-rich.|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 TGAAACAGAGGAATATAGTTC 0.473000 17 31 0 0 0.004990 0 0 GCM2 9247 broad.mit.edu 37 6 10876690 10876690 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:10876690C>T ENST00000379491.4 - 3 591 c.444G>A c.(442-444)gcG>gcA p.A148A SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron NM_004752.3 NP_004743.1 O75603 GCM2_HUMAN glial cells missing homolog 2 (Drosophila) 148 cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 30 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) GAAAAAAGATCGCGTTGCCAT 0.498000 13 38 0 0 0.001855 0 0 LCE2C 353140 broad.mit.edu 37 1 152648565 152648565 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:152648565C>T ENST00000368783.1 + 2 129 c.74C>T c.(73-75)cCa>cTa p.P25L LCE2B_ENST00000417924.2_Intron NM_178429.2 NP_848516.1 Q5TA81 LCE2C_HUMAN late cornified envelope 2C 25 Cys-rich. keratinization endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 13 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ccaaaatgtccacctaagtgt 0.572000 26 64 0 0 0.003954 0 0 GRM1 2911 broad.mit.edu 37 6 146351223 146351223 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:146351223C>T ENST00000392299.2 + 2 1040 c.570C>T c.(568-570)atC>atT p.I190I GRM1_ENST00000355289.4_Silent_p.I190I|GRM1_ENST00000492807.2_Silent_p.I190I|GRM1_ENST00000361719.2_Silent_p.I190I|GRM1_ENST00000507907.1_Silent_p.I190I|GRM1_ENST00000282753.1_Silent_p.I190I Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 190 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCACAAGCATCGACCTGAGTG 0.507000 26 54 0 0 0.008361 0 0 COL7A1 1294 broad.mit.edu 37 3 48619180 48619180 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:48619180G>A ENST00000328333.8 - 48 4788 c.4681C>T c.(4681-4683)Ccc>Tcc p.P1561S COL7A1_ENST00000454817.1_Missense_Mutation_p.P1561S NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1561 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGCCCAGCGGGCCCCACATCT 0.577000 19 112 0 0 0.007413 0 0 CSMD1 64478 broad.mit.edu 37 8 2820869 2820869 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:2820869C>T ENST00000520002.1 - 61 9887 c.9332G>A c.(9331-9333)gGa>gAa p.G3111E CSMD1_ENST00000602557.1_Missense_Mutation_p.G3111E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2933E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2934E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2934E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G3110E Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3111 Sushi 25. 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) GAAATCACTTCCCTCCACTGT 0.582000 52 129 0 0 0.014410 0 0 NCEH1 57552 broad.mit.edu 37 3 172351691 172351691 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:172351691G>A ENST00000475381.1 - 5 1034 c.801C>T c.(799-801)atC>atT p.I267I NCEH1_ENST00000273512.3_Silent_p.I299I|NCEH1_ENST00000543711.1_Silent_p.I134I|NCEH1_ENST00000538775.1_Silent_p.I307I Q6PIU2 NCEH1_HUMAN neutral cholesterol ester hydrolase 1 267 lipid catabolic process endoplasmic reticulum|integral to membrane|microsome carboxylesterase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1) 15 GATTGTTAACGATCATTGCCT 0.478000 11 39 0 0 0.001855 0 0 OR2W1 26692 broad.mit.edu 37 6 29012269 29012269 + Silent SNP C C T rs144276666 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:29012269C>T ENST00000377175.1 - 1 748 c.684G>A c.(682-684)acG>acA p.T228T NM_030903.3 NP_112165.1 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, member 1 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T228T(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 CTTTTGACTTCGTTCTCAGCA 0.393000 34 51 0 0 0.003271 0 0 FARSB 10056 broad.mit.edu 37 2 223499232 223499232 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:223499232G>A ENST00000281828.6 - 6 747 c.484C>T c.(484-486)Cat>Tat p.H162Y FARSB_ENST00000536361.1_Missense_Mutation_p.H63Y NM_005687.3 NP_005678.3 Q9NSD9 SYFB_HUMAN phenylalanyl-tRNA synthetase, beta subunit 162 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) TCCAAATCATGGGTACCAATG 0.433000 7 30 0 0 0.003080 0 0 TMEM59 9528 broad.mit.edu 37 1 54509162 54509162 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:54509162G>A ENST00000371344.1 - 1 1453 c.34C>T c.(34-36)Cct>Tct p.P12S TMEM59_ENST00000371348.1_Missense_Mutation_p.P12S|TMEM59_ENST00000234831.5_Missense_Mutation_p.P143S|TMEM59_ENST00000371341.1_Missense_Mutation_p.P12S Q9BXS4 TMM59_HUMAN transmembrane protein 59 143 Golgi membrane|integral to membrane kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 AGAGTTAGAGGAAAGAGTAGG 0.343000 26 53 0 0 0.009535 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85492772 85492772 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:85492772G>A ENST00000393217.2 + 13 3270 c.3209_splice c.e13+1 p.S1070_splice NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1070 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) TCTCAAAACAGGTAAAAGCAT 0.289000 6 21 0 0 0.001168 0 0 EMR1 2015 broad.mit.edu 37 19 6897289 6897289 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:6897289G>A ENST00000312053.4 + 4 405 c.368G>A c.(367-369)gGa>gAa p.G123E EMR1_ENST00000381404.4_Intron|EMR1_ENST00000450315.3_Missense_Mutation_p.G123E|EMR1_ENST00000250572.8_Missense_Mutation_p.G123E|EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000381407.5_Intron NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 123 EGF-like 2; calcium-binding (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity p.G123V(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) TGGGTCCCAGGAAAGCCGGGC 0.498000 16 32 0 0 0.007413 0 0 HHIPL2 79802 broad.mit.edu 37 1 222715384 222715384 + Missense_Mutation SNP G G A rs146335870 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:222715384G>A ENST00000343410.6 - 3 1146 c.1088C>T c.(1087-1089)cCc>cTc p.P363L NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 363 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) CAGGCCAAAGGGATCTCCAGC 0.527000 140 271 0 0 0.014410 0 0 OR4K13 390433 broad.mit.edu 37 14 20502813 20502813 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:20502813G>A ENST00000315693.2 - 1 106 c.105C>T c.(103-105)ttC>ttT p.F35F NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) CAATCCCCACGAAGACCACAG 0.413000 11 22 0 0 0.010729 0 0 SYNE1 23345 broad.mit.edu 37 6 152738117 152738117 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:152738117C>T ENST00000367255.5 - 41 6056 c.5455G>A c.(5455-5457)Gaa>Aaa p.E1819K SYNE1_ENST00000341594.5_Missense_Mutation_p.E1856K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1826K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1826K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1819K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1819 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTCTGCAATTCGCCCTTTTTG 0.517000 HNSCC(10;0.0054) 18 71 0 0 0.007413 0 0 TMPRSS3 64699 broad.mit.edu 37 21 43795855 43795855 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr21:43795855G>A ENST00000291532.3 - 12 2272 c.1317C>T c.(1315-1317)tcC>tcT p.S439S TMPRSS3_ENST00000433957.2_Silent_p.S438S|TMPRSS3_ENST00000380399.1_Silent_p.S523S|TMPRSS3_ENST00000398405.1_Silent_p.S436S|TMPRSS3_ENST00000474596.1_5'UTR NM_032404.2 NP_115780.1 P57727 TMPS3_HUMAN transmembrane protease, serine 3 439 Peptidase S1. cellular sodium ion homeostasis|proteolysis endoplasmic reticulum membrane|integral to membrane scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1) 13 AGTCCAGGAAGGAGGTGACAC 0.597000 38 36 0 0 0.004878 0 0 KCNAB1 7881 broad.mit.edu 37 3 156009848 156009848 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:156009848G>A ENST00000302490.8 + 1 1023 c.152G>A c.(151-153)gGg>gAg p.G51E KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000490337.1_Intron|KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000389634.5_Missense_Mutation_p.G51E NM_172159.3 NP_751891.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 69 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) CGCAGCCTGGGGACGTTCACG 0.577000 12 46 0 0 0.013537 0 0 MMP26 56547 broad.mit.edu 37 11 5011075 5011075 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:5011075G>A ENST00000380390.1 + 3 513 c.297G>A c.(295-297)tgG>tgA p.W99* MMP26_ENST00000300762.1_Nonsense_Mutation_p.W99* Q9NRE1 MMP26_HUMAN matrix metallopeptidase 26 99 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1) 22 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) GATGCAAGTGGAATAAGCACA 0.527000 10 25 0 0 0.006214 0 0 IGHG1 3500 broad.mit.edu 37 14 106208404 106208404 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:106208404C>T ENST00000390548.2 - 0 495 TTATGCACCTCCACGCCGTCC 0.602000 35 112 0 0 0.005524 0 0 NTRK3 4916 broad.mit.edu 37 15 88423518 88423518 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:88423518G>A ENST00000394480.1 - 18 2596 c.2275C>T c.(2275-2277)Caa>Taa p.Q759* NTRK3_ENST00000557856.1_Nonsense_Mutation_p.Q751*|NTRK3_ENST00000360948.2_Nonsense_Mutation_p.Q773*|NTRK3_ENST00000355254.2_Nonsense_Mutation_p.Q759*|NTRK3_ENST00000357724.2_Nonsense_Mutation_p.Q765* NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 773 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.Q759K(1)|p.Q773K(1) ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) TTTGAGAGTTGGAACCATGGC 0.493000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 19 48 0 0 0.008871 0 0 NRXN1 9378 broad.mit.edu 37 2 51255007 51255007 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:51255007G>A ENST00000404971.1 - 2 1744 c.405C>T c.(403-405)gcC>gcT p.A135A NRXN1_ENST00000405472.3_Silent_p.A135A|NRXN1_ENST00000405581.1_Silent_p.A135A|NRXN1_ENST00000402717.3_Silent_p.A135A|NRXN1_ENST00000401669.2_Silent_p.A135A|NRXN1_ENST00000406859.3_Silent_p.A135A|NRXN1_ENST00000406316.2_Silent_p.A135A NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 135 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) CCACCCACTTGGCCTCCACCT 0.687000 9 21 0 0 0.010729 0 0 RARRES1 5918 broad.mit.edu 37 3 158422676 158422676 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:158422676C>T ENST00000237696.5 - 4 856 c.576G>A c.(574-576)tgG>tgA p.W192* RARRES1_ENST00000479756.1_Nonsense_Mutation_p.W192*|RARRES1_ENST00000498640.1_5'UTR NM_206963.1 NP_996846.1 P49788 TIG1_HUMAN retinoic acid receptor responder (tazarotene induced) 1 192 negative regulation of cell proliferation integral to membrane NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1) 9 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) Tretinoin(DB00755) AAGCCAAATCCCAGATGAGTC 0.418000 8 18 0 0 0.003080 0 0 GOPC 57120 broad.mit.edu 37 6 117900091 117900091 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:117900091G>A ENST00000535237.1 - 2 651 c.422C>T c.(421-423)gCt>gTt p.A141V GOPC_ENST00000052569.6_Missense_Mutation_p.A141V|GOPC_ENST00000368498.2_Missense_Mutation_p.A141V golgi-associated PDZ and coiled-coil motif containing GOPC/ROS1(14) endometrium(1)|large_intestine(3)|lung(4)|ovary(1) 9 all_cancers(87;0.00844)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976) ACCAGAGTCAGCACTTTGACC 0.408000 O ROS1 glioblastoma 10 34 0 0 0.013537 0 0 USP43 124739 broad.mit.edu 37 17 9586206 9586206 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:9586206C>T ENST00000570827.2 + 7 1313 c.239C>T c.(238-240)tCt>tTt p.S80F USP43_ENST00000285199.6_Missense_Mutation_p.S391F|USP43_ENST00000570475.1_Missense_Mutation_p.S391F|USP43_ENST00000575346.1_3'UTR Q70EL4 UBP43_HUMAN ubiquitin specific peptidase 43 391 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 TTCTCCCTCTCTCTCCACAGT 0.527000 31 17 0 0 0.009535 0 0 OR14J1 442191 broad.mit.edu 37 6 29275110 29275110 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:29275110C>T ENST00000377160.2 + 1 708 c.644C>T c.(643-645)tCc>tTc p.S215F NM_030946.1 NP_112208.1 Q9UGF5 O14J1_HUMAN olfactory receptor, family 14, subfamily J, member 1 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 ATTGTGCTCTCCTACATTCGC 0.468000 9 118 0 0 0.004482 0 0 EWSR1 2130 broad.mit.edu 37 22 29693828 29693828 + Missense_Mutation SNP C C G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:29693828C>G ENST00000397938.2 + 13 1625 c.1306C>G c.(1306-1308)Caa>Gaa p.Q436E EWSR1_ENST00000406548.1_Missense_Mutation_p.Q435E|EWSR1_ENST00000332035.6_Missense_Mutation_p.Q380E|EWSR1_ENST00000331029.7_Missense_Mutation_p.Q398E|EWSR1_ENST00000332050.6_Missense_Mutation_p.Q363E|EWSR1_ENST00000414183.2_Missense_Mutation_p.Q441E NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3 NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2 Q01844 EWS_HUMAN EWS RNA-binding protein 1 436 RRM. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding p.Q436*(1) EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GAAAGATTTTCAAGGGAGCAA 0.512000 T """FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1, PBX1""" """Ewing sarcoma, desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma""" 8 56 0 0 0.003080 0 0 LPPR1 54886 broad.mit.edu 37 9 104032288 104032288 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:104032288G>A ENST00000374874.3 + 3 629 c.190G>A c.(190-192)Gaa>Aaa p.E64K LPPR1_ENST00000395056.2_Missense_Mutation_p.E64K NM_207299.1 NP_997182.1 Q8TBJ4 LPPR1_HUMAN 64 integral to membrane catalytic activity AGGGACAGAGGAAGAAAGCTT 0.463000 13 29 0 0 0.001855 0 0 ERMARD 55780 broad.mit.edu 37 6 170156440 170156440 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:170156440C>T ENST00000366773.3 + 4 355 c.322C>T c.(322-324)Cct>Tct p.P108S C6orf70_ENST00000366772.2_Missense_Mutation_p.P108S|C6orf70_ENST00000588451.1_5'UTR|C6orf70_ENST00000392095.4_5'UTR|C6orf70_ENST00000418781.3_Missense_Mutation_p.P108S NM_001278532.1|NM_018341.1 NP_001265461.1|NP_060811.1 Q5T6L9 CF070_HUMAN 108 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1) 20 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191) ATAGTTATTTCCTGAAATATT 0.333000 17 32 0 0 0.007413 0 0 KIAA1377 57562 broad.mit.edu 37 11 101815013 101815013 + Missense_Mutation SNP G G A rs145886481 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:101815013G>A ENST00000263468.8 + 3 536 c.266G>A c.(265-267)cGa>cAa p.R89Q NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 89 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) GAGGAGAAACGAAAAGAACAG 0.313000 10 12 0 0 0.006214 0 0 VWA5A 4013 broad.mit.edu 37 11 124007909 124007909 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:124007909C>T ENST00000456829.2 + 15 2064 c.1813C>T c.(1813-1815)Cat>Tat p.H605Y VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.H605Y NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A 605 autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 GCCTCTGGCTCATAGGGACGT 0.453000 15 18 0 0 0.004007 0 0 IFIH1 64135 broad.mit.edu 37 2 163134828 163134828 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:163134828T>A ENST00000263642.2 - 9 2047 c.1652A>T c.(1651-1653)aAa>aTa p.K551I NM_022168.3 NP_071451.2 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 551 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 AAGTTTCTCTTTAAATGGATC 0.279000 17 24 0 0 0.008871 0 0 CDH13 1012 broad.mit.edu 37 16 83704515 83704515 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:83704515G>A ENST00000566620.1 + 9 1512 c.1222G>A c.(1222-1224)Ggg>Agg p.G408R CDH13_ENST00000268613.10_Missense_Mutation_p.G455R|CDH13_ENST00000428848.3_Missense_Mutation_p.G369R 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 13 408 Cadherin 3. 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) CGGAAACCCCGGGCAGAGCTT 0.498000 28 95 0 0 0.010818 0 0 PTF1A 256297 broad.mit.edu 37 10 23482809 23482809 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:23482809G>A ENST00000376504.3 + 2 1165 c.961G>A c.(961-963)Gaa>Aaa p.E321K NM_178161.2 NP_835455.1 Q7RTS3 PTF1A_HUMAN pancreas specific transcription factor, 1a 321 endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent cytoplasm|transcription factor complex endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1) 7 CATAGAAAACGAACCACCATT 0.398000 25 99 0 0 0.007291 0 0 DNAH9 1770 broad.mit.edu 37 17 11809055 11809055 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:11809055C>T ENST00000262442.3 + 61 11746 c.11678C>T c.(11677-11679)tCg>tTg p.S3893L DNAH9_ENST00000454412.2_Missense_Mutation_p.S3893L|DNAH9_ENST00000396001.2_Missense_Mutation_p.S205L NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3893 AAA 6 (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) TTTGAAGAATCGGGACCAGCC 0.468000 17 15 0 0 0.004990 0 0 MYO7B 4648 broad.mit.edu 37 2 128363455 128363455 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:128363455C>T ENST00000389524.4 + 20 2429 c.2376C>T c.(2374-2376)acC>acT p.T792T MYO7B_ENST00000409816.2_Silent_p.T792T|MYO7B_ENST00000428314.1_Silent_p.T792T Q6PIF6 MYO7B_HUMAN myosin VIIB 792 IQ 2.|IQ 3. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CAGCTGTGACCCTGCAGGCCT 0.587000 9 30 0 0 0.002450 0 0 PRKCB 5579 broad.mit.edu 37 16 24046808 24046808 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:24046808G>A ENST00000303531.7 + 5 621 c.469G>A c.(469-471)Gag>Aag p.E157K PRKCB_ENST00000321728.7_Missense_Mutation_p.E157K NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 157 apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) GGACCACACGGAGCGCCGCGG 0.617000 20 29 0 0 0.008871 0 0 LTBP2 4053 broad.mit.edu 37 14 75052711 75052711 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:75052711C>T ENST00000261978.4 - 3 1062 c.676G>A c.(676-678)Gaa>Aaa p.E226K LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.E226K NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 226 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GGGTCAAATTCCTCATCGGGA 0.682000 7 5 0 0 0.001984 0 0 LGI2 55203 broad.mit.edu 37 4 25030152 25030152 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:25030152G>A ENST00000382114.4 - 2 431 c.246C>T c.(244-246)tcC>tcT p.S82S NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 82 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) AAGGCAGATGGGAAAACATTC 0.522000 5 5 0 0 0.001168 0 0 KCNF1 3754 broad.mit.edu 37 2 11053886 11053886 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:11053886C>T ENST00000295082.1 + 1 1824 c.1334C>T c.(1333-1335)tCc>tTc p.S445F NM_002236.4 NP_002227.2 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, member 1 445 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) ACCGGGGGCTCCCGCAGTGAC 0.667000 5 26 0 0 0.000602 0 0 TFCP2L1 29842 broad.mit.edu 37 2 122007207 122007207 + Silent SNP G G A rs61734658 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:122007207G>A ENST00000263707.5 - 3 328 c.231C>T c.(229-231)atC>atT p.I77I NM_014553.2 NP_055368.1 Q9NZI6 TF2L1_HUMAN transcription factor CP2-like 1 77 female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1) 22 Renal(3;0.01) CCAGTAGTCGGATTTCATAAG 0.458000 34 74 0 0 0.005524 0 0 KIF2B 84643 broad.mit.edu 37 17 51901025 51901025 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:51901025G>A ENST00000268919.4 + 1 787 c.631G>A c.(631-633)Gaa>Aaa p.E211K NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 211 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GCCCCCGCAAGAACATCGCAT 0.537000 15 17 0 0 0.003163 0 0 PPFIA1 8500 broad.mit.edu 37 11 70183477 70183477 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:70183477C>T ENST00000253925.7 + 12 1650 c.1435C>T c.(1435-1437)Ctt>Ttt p.L479F PPFIA1_ENST00000389547.3_Missense_Mutation_p.L479F|AP000487.6_ENST00000528607.1_RNA NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 479 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) TCAGAACTCTCTTTTAAGAGA 0.333000 3 6 0 0 0.009096 0 0 ABCB9 23457 broad.mit.edu 37 12 123419895 123419895 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:123419895G>A ENST00000542678.1 - 10 4665 c.1827C>T c.(1825-1827)ttC>ttT p.F609F ABCB9_ENST00000344275.7_Silent_p.F609F|ABCB9_ENST00000442833.2_Silent_p.F609F|ABCB9_ENST00000280560.8_Silent_p.F609F|ABCB9_ENST00000392439.3_Silent_p.F609F|ABCB9_ENST00000346530.5_Silent_p.F566F|ABCB9_ENST00000442028.2_Silent_p.F609F|ABCB9_ENST00000540285.1_Silent_p.F546F Q9NP78 ABCB9_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 9 609 ABC transporter. positive regulation of T cell mediated cytotoxicity|protein transport lysosomal membrane|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111) CCACCATCTCGAAAGGCACAG 0.637000 12 12 0 0 0.010729 0 0 OR4M1 441670 broad.mit.edu 37 14 20248579 20248579 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:20248579C>T ENST00000315957.4 + 1 179 c.98C>T c.(97-99)tCc>tTc p.S33F NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S33Y(1) 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) ATATTTCTATCCTTCTATTTG 0.413000 22 246 0 0 0.012319 0 0 C3orf55 152078 broad.mit.edu 37 3 157296096 157296096 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:157296096C>T ENST00000312275.5 + 5 623 c.331C>T c.(331-333)Cat>Tat p.H111Y C3orf55_ENST00000449199.2_Intron|C3orf55_ENST00000461040.1_Intron|C3orf55_ENST00000426338.2_Intron|C3orf55_ENST00000459838.1_3'UTR NM_001099777.3 NP_001093247.1 A1A4F0 CC055_HUMAN chromosome 3 open reading frame 55 0 breast(1)|lung(1) 2 Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037) GAAGGAACTTCATTTCTGCTG 0.398000 16 22 0 0 0.008871 0 0 COL19A1 1310 broad.mit.edu 37 6 70866042 70866042 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:70866042C>T ENST00000322773.4 + 32 2205 c.2103C>T c.(2101-2103)gcC>gcT p.A701A COL19A1_ENST00000393344.1_Silent_p.A323A NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 701 Triple-helical region 4 (COL4). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 ACTGCCAAGCCAGTGTCCCAG 0.468000 5 23 0 0 0.001168 0 0 OR2M7 391196 broad.mit.edu 37 1 248487463 248487463 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:248487463C>T ENST00000317965.2 - 1 436 c.408G>A c.(406-408)atG>atA p.M136I NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 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) TTTTGGGTCTCATGAGATTGG 0.448000 43 161 0 0 0.014410 0 0 MYH14 79784 broad.mit.edu 37 19 50812329 50812329 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:50812329C>T ENST00000440075.2 + 42 5902 c.5855C>T c.(5854-5856)tCc>tTc p.S1952F MYH14_ENST00000596571.1_Missense_Mutation_p.S1911F|MYH14_ENST00000601313.1_Missense_Mutation_p.S1952F|MYH14_ENST00000598205.1_Missense_Mutation_p.S1919F|MYH14_ENST00000425460.1_Missense_Mutation_p.S1919F|MYH14_ENST00000376970.2_Missense_Mutation_p.S1944F|MYH14_ENST00000262269.8_Missense_Mutation_p.S1952F Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 1911 axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GAGGAGGCATCCCGGGCTCAG 0.622000 13 26 0 0 0.001855 0 0 BMP6 654 broad.mit.edu 37 6 7880319 7880319 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:7880319G>A ENST00000283147.6 + 6 1536 c.1377G>A c.(1375-1377)gcG>gcA p.A459A NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 459 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) CCAACCACGCGATTGTGCAGA 0.483000 14 62 0 0 0.003163 0 0 SCAI 286205 broad.mit.edu 37 9 127762192 127762192 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:127762192G>A ENST00000336505.5 - 13 1280 c.1222C>T c.(1222-1224)Cag>Tag p.Q408* SCAI_ENST00000373549.4_Nonsense_Mutation_p.Q431*|SCAI_ENST00000487795.1_5'UTR NM_001144877.2 NP_001138349.1 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion 408 negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1) 35 TTGTGGGACTGATTTCGTTTG 0.328000 46 85 0 0 0.014410 0 0 HMCN1 83872 broad.mit.edu 37 1 186114634 186114634 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:186114634C>T ENST00000271588.4 + 92 14595 c.14366C>T c.(14365-14367)cCc>cTc p.P4789L HMCN1_ENST00000367492.2_Missense_Mutation_p.P4789L NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4789 TSP type-1 5. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AACCCTCCTCCCTCCAATGGG 0.577000 10 25 0 0 0.006214 0 0 NFIX 4784 broad.mit.edu 37 19 13192533 13192533 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:13192533C>T ENST00000358552.3 + 6 992 c.992C>T c.(991-993)tCc>tTc p.S331F NFIX_ENST00000588228.1_Missense_Mutation_p.S326F|NFIX_ENST00000585575.1_Missense_Mutation_p.S365F|NFIX_ENST00000587260.1_Missense_Mutation_p.S372F|NFIX_ENST00000592199.1_Missense_Mutation_p.S373F|NFIX_ENST00000397661.2_Missense_Mutation_p.S373F|NFIX_ENST00000360105.4_Missense_Mutation_p.S335F|NFIX_ENST00000587760.1_Missense_Mutation_p.S365F Q14938 NFIX_HUMAN nuclear factor I/X (CCAAT-binding transcription factor) 373 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) CACTTCCCCTCCACGTCCATC 0.632000 17 18 0 0 0.006122 0 0 NUP210 23225 broad.mit.edu 37 3 13417834 13417834 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:13417834C>T ENST00000254508.5 - 10 1332 c.1250G>A c.(1249-1251)gGa>gAa p.G417E NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 417 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) GGCCGTCTGTCCCCTCTTTAG 0.572000 23 44 0 0 0.012319 0 0 PCLO 27445 broad.mit.edu 37 7 82581291 82581291 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:82581291G>A ENST00000423517.2 - 5 9315 c.8978C>T c.(8977-8979)tCc>tTc p.S2993F PCLO_ENST00000333891.8_Missense_Mutation_p.S2993F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2924 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 GTCAGACATGGAAGGCTTCAT 0.403000 56 136 0 0 0.014410 0 0 TSHR 7253 broad.mit.edu 37 14 81609650 81609650 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:81609650C>T ENST00000541158.2 + 11 1570 c.1248C>T c.(1246-1248)ttC>ttT p.F416F TSHR_ENST00000298171.2_Silent_p.F416F|RP11-114N19.3_ENST00000557775.1_RNA P16473 TSHR_HUMAN thyroid stimulating hormone receptor 416 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) GCTACAAGTTCCTGAGAATTG 0.502000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 18 113 0 0 0.012319 0 0 AGO1 26523 broad.mit.edu 37 1 36379862 36379862 + Missense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:36379862C>A ENST00000373204.4 + 14 2033 c.1820C>A c.(1819-1821)cCt>cAt p.P607H AGO1_ENST00000373206.1_Missense_Mutation_p.P532H NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 GGGAAAAAACCTTCTATCACA 0.483000 23 42 3.83957e-06 4.17097e-06 0.002780 1 0 FAM47B 170062 broad.mit.edu 37 X 34962818 34962818 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:34962818C>T ENST00000329357.5 + 1 1906 c.1870C>T c.(1870-1872)Cct>Tct p.P624S NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 624 p.P624A(1) breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 TGTTAAGACTCCTATTCAACG 0.398000 24 46 0 0 0.005443 0 0 ZCWPW1 55063 broad.mit.edu 37 7 99999545 99999545 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:99999545C>T ENST00000398027.2 - 17 1838 c.1591G>A c.(1591-1593)Gaa>Aaa p.E531K ZCWPW1_ENST00000490721.1_Intron|ZCWPW1_ENST00000324725.6_Intron|ZCWPW1_ENST00000360951.4_Intron NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 531 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCTTGGCCTTCTTTCCTTCCC 0.532000 19 83 0 0 0.006122 0 0 PDE1C 5137 broad.mit.edu 37 7 31887604 31887604 + Missense_Mutation SNP T T G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:31887604T>G ENST00000396184.3 - 10 1162 c.958A>C c.(958-960)Aac>Cac p.N320H PDE1C_ENST00000396191.1_Missense_Mutation_p.N320H|PDE1C_ENST00000321453.7_Missense_Mutation_p.N320H|PDE1C_ENST00000396193.1_Missense_Mutation_p.N380H|PDE1C_ENST00000396182.2_Missense_Mutation_p.N320H NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 320 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) TTTGAGAGGTTAATCAAAATA 0.398000 6 54 0 0 0.001984 0 0 OBP2A 29991 broad.mit.edu 37 9 138441153 138441153 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:138441153G>A ENST00000539850.1 + 6 516 c.e6-1 OBP2A_ENST00000340780.3_Splice_Site|OBP2A_ENST00000371776.1_Splice_Site|OBP2A_ENST00000342114.4_Splice_Site Q9NY56 OBP2A_HUMAN odorant binding protein 2A response to stimulus|sensory perception of smell extracellular region odorant binding|transporter activity endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05) GGTCTCTGCAGGAAGCTGCGT 0.617000 23 101 0 0 0.005443 0 0 JUP 3728 broad.mit.edu 37 17 39919277 39919277 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:39919277G>A ENST00000393931.3 - 8 1573 c.1455C>T c.(1453-1455)atC>atT p.I485I JUP_ENST00000310706.5_Silent_p.I485I|JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Silent_p.I485I NM_002230.2 NP_002221.1 P14923 PLAK_HUMAN junction plakoglobin 485 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) GCAGCTTCACGATGGCTGGGA 0.622000 17 25 0 0 0.007413 0 0 INPP5A 3632 broad.mit.edu 37 10 134540383 134540383 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:134540383C>T ENST00000368594.3 + 9 983 c.706C>T c.(706-708)Cgg>Tgg p.R236W INPP5A_ENST00000487614.1_3'UTR|INPP5A_ENST00000368593.3_Missense_Mutation_p.R236W NM_005539.3 NP_005530.3 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase, 40kDa 236 cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) TTTCAACTTCCGGCTGGATTC 0.522000 14 41 0 0 0.004990 0 0 CSMD3 114788 broad.mit.edu 37 8 113516034 113516034 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:113516034G>A ENST00000297405.5 - 30 5312 c.5068C>T c.(5068-5070)Cat>Tat p.H1690Y CSMD3_ENST00000455883.2_Missense_Mutation_p.H1586Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.H1690Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.H1650Y NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1690 CUB 9. 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 TATTCTAGATGAAATCCAGTG 0.323000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 11 48 0 0 0.010729 0 0 CCDC85A 114800 broad.mit.edu 37 2 56420143 56420143 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:56420143C>T ENST00000407595.2 + 2 1310 c.808C>T c.(808-810)Cgc>Tgc p.R270C RP11-482H16.1_ENST00000607540.1_RNA NM_001080433.1 NP_001073902.1 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 270 His-rich. breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3) 38 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) AACCCCAGATCGCCCCAAAGC 0.657000 8 30 0 0 0.003080 0 0 DCC 1630 broad.mit.edu 37 18 50592432 50592432 + Missense_Mutation SNP G G A rs140711456 by1000genomes TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:50592432G>A ENST00000442544.2 + 7 1773 c.1157G>A c.(1156-1158)cGg>cAg p.R386Q DCC_ENST00000412726.1_Missense_Mutation_p.R234Q|DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Missense_Mutation_p.R41Q NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 386 Ig-like C2-type 4. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.R386Q(1) 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) AGCAACTTACGGATACTTGGG 0.418000 27 70 0 0 0.006320 0 0 ACSS1 84532 broad.mit.edu 37 20 24994251 24994251 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:24994251G>A ENST00000537502.1 - 8 2782 c.1251C>T c.(1249-1251)tcC>tcT p.S417S ACSS1_ENST00000542618.1_Silent_p.S379S|ACSS1_ENST00000323482.4_Silent_p.S500S|ACSS1_ENST00000432802.2_Silent_p.S500S Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 500 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GCCAGGCCTGGGAGATGCACA 0.642000 4 21 0 0 0.000602 0 0 ZNF287 57336 broad.mit.edu 37 17 16466462 16466462 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:16466462G>A ENST00000395824.1 - 5 1330 c.713C>T c.(712-714)cCa>cTa p.P238L ZNF287_ENST00000395825.3_Missense_Mutation_p.P238L Q9HBT7 ZN287_HUMAN zinc finger protein 287 231 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) TTTCTCACCTGGACTAGGGCC 0.378000 24 21 0 0 0.004656 0 0 CD101 9398 broad.mit.edu 37 1 117554458 117554458 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:117554458G>A ENST00000256652.4 + 3 769 c.711G>A c.(709-711)gaG>gaA p.E237E CD101_ENST00000369470.1_Silent_p.E237E NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4 NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2 Q93033 IGSF2_HUMAN CD101 molecule 237 Ig-like C2-type 2. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TGTCCATAGAGAGGCTCCAGT 0.498000 12 23 0 0 0.001855 0 0 ABCB1 5243 broad.mit.edu 37 7 87179839 87179839 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:87179839C>T ENST00000265724.3 - 12 1586 c.1169G>A c.(1168-1170)gGa>gAa p.G390E ABCB1_ENST00000543898.1_Missense_Mutation_p.G326E NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 390 G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TTCCAAATTTCCCTTAATATT 0.313000 24 47 0 0 0.003954 0 0 OR51B4 79339 broad.mit.edu 37 11 5322889 5322889 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:5322889G>A ENST00000380224.1 - 1 337 c.288C>T c.(286-288)ttC>ttT p.F96F HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_033179.2 NP_149419.2 Q9Y5P0 O51B4_HUMAN olfactory receptor, family 51, subfamily B, member 4 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGATTGGGTGAAACAGGCAG 0.507000 11 37 0 0 0.010729 0 0 ZZEF1 23140 broad.mit.edu 37 17 3974195 3974195 + Silent SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:3974195G>T ENST00000381638.2 - 26 3982 c.3858C>A c.(3856-3858)ccC>ccA p.P1286P NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 1286 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 AATGGCGGCAGGGGTCGTCAG 0.383000 7 27 0.00198382 0.00214421 0.001984 1 0 DHRS1 115817 broad.mit.edu 37 14 24765783 24765783 + Missense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:24765783G>T ENST00000288111.7 - 4 582 c.306C>A c.(304-306)aaC>aaA p.N102K DHRS1_ENST00000396813.1_Missense_Mutation_p.N102K NM_001136050.2 NP_001129522.1 Q96LJ7 DHRS1_HUMAN dehydrogenase/reductase (SDR family) member 1 102 endoplasmic reticulum binding|oxidoreductase activity cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 6 GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442) TATTCCTGGTGTTCAGGATCG 0.552000 OREG0022622 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 101 9.16793e-09 1.0008e-08 0.004990 1 0 COMTD1 118881 broad.mit.edu 37 10 76995454 76995454 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:76995454G>A ENST00000372538.3 - 2 224 c.142C>T c.(142-144)Ccc>Tcc p.P48S COMTD1_ENST00000460899.1_5'UTR NM_144589.2 NP_653190.2 Q86VU5 CMTD1_HUMAN catechol-O-methyltransferase domain containing 1 48 integral to membrane O-methyltransferase activity central_nervous_system(1)|large_intestine(1)|lung(1) 3 all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183) TCCTCGGGGGGAAGCAGGCAC 0.706000 3 7 0 0 0.000602 0 0 GLB1L2 89944 broad.mit.edu 37 11 134226237 134226237 + Missense_Mutation SNP G G A rs146193618 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:134226237G>A ENST00000535456.2 + 6 789 c.601G>A c.(601-603)Gaa>Aaa p.E201K GLB1L2_ENST00000389881.3_Missense_Mutation_p.E201K|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.E201K NM_138342.3 NP_612351.2 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 201 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) GGTGGAGAATGAATATGGTTC 0.478000 43 72 0 0 0.014410 0 0 SLC37A2 219855 broad.mit.edu 37 11 124951352 124951352 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:124951352C>T ENST00000403796.2 + 8 1031 c.730C>T c.(730-732)Cac>Tac p.H244Y SLC37A2_ENST00000308074.4_Missense_Mutation_p.H244Y|SLC37A2_ENST00000407458.1_Missense_Mutation_p.H244Y|SLC37A2_ENST00000298280.5_Missense_Mutation_p.H244Y NM_001145290.1 NP_001138762.1 Q8TED4 SPX2_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 2 244 carbohydrate transport|transmembrane transport integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 27 all_hematologic(175;0.215) Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384) TCCTCAGCACCACGTGAGTGT 0.602000 20 16 0 0 0.002780 0 0 LAMA5 3911 broad.mit.edu 37 20 60887028 60887028 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:60887028C>T ENST00000252999.3 - 70 9649 c.9583G>A c.(9583-9585)Ggc>Agc p.G3195S NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 3195 Laminin G-like 3. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCGGCGAAGCCCGCTTGAGTT 0.647000 16 51 0 0 0.004007 0 0 TNS1 7145 broad.mit.edu 37 2 218669209 218669209 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:218669209G>A ENST00000171887.4 - 33 5633 c.5181C>T c.(5179-5181)gtC>gtT p.V1727V TNS1_ENST00000419504.1_Silent_p.V1713V|TNS1_ENST00000430930.1_Silent_p.V1706V NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 1727 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) CATTCAGCATGACCTTGGAGA 0.627000 18 65 0 0 0.007413 0 0 FCRL5 83416 broad.mit.edu 37 1 157516818 157516818 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:157516818G>A ENST00000361835.3 - 3 379 c.222C>T c.(220-222)atC>atT p.I74I FCRL5_ENST00000368190.3_Silent_p.I74I|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368189.3_Silent_p.I74I|FCRL5_ENST00000356953.4_Silent_p.I74I|FCRL5_ENST00000368188.2_Silent_p.I74I NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 74 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) GAACCTCAAGGATATTGTCTG 0.488000 24 41 0 0 0.014323 0 0 KIF27 55582 broad.mit.edu 37 9 86504116 86504116 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:86504116C>T ENST00000297814.2 - 7 2005 c.1862G>A c.(1861-1863)cGa>cAa p.R621Q KIF27_ENST00000334204.2_Missense_Mutation_p.R621Q|KIF27_ENST00000376347.1_Missense_Mutation_p.R12Q|KIF27_ENST00000413982.1_Missense_Mutation_p.R621Q NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 621 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 ACTTCGTGTTCGAAATCCAGC 0.418000 48 84 0 0 0.014410 0 0 PTPLAD2 401494 broad.mit.edu 37 9 21029392 21029392 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:21029392C>T ENST00000495827.1 - 2 89 c.44G>A c.(43-45)aGg>aAg p.R15K PTPLAD2_ENST00000513293.2_Missense_Mutation_p.R15K NM_001010915.3 NP_001010915.2 Q5VWC8 HACD4_HUMAN protein tyrosine phosphatase-like A domain containing 2 15 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane lyase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 10 Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10) CGCATTCTTCCTATACCTATA 0.338000 17 87 0 0 0.007413 0 0 TTLL7 79739 broad.mit.edu 37 1 84376910 84376910 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:84376910C>T ENST00000260505.8 - 15 2101 c.1724G>A c.(1723-1725)aGa>aAa p.R575K TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 575 R -> G (in Ref. 4; AAH60878). cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) TTGCTTTTCTCTTTTCTTATT 0.328000 14 38 0 0 0.003163 0 0 USP24 23358 broad.mit.edu 37 1 55547003 55547003 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:55547003C>T ENST00000294383.6 - 59 7069 c.7070G>A c.(7069-7071)aGg>aAg p.R2357K USP24_ENST00000407756.1_Missense_Mutation_p.R2197K NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 2357 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 ACCAACATTCCTTTGGGATGA 0.373000 42 264 0 0 0.010771 0 0 FBXW10 10517 broad.mit.edu 37 17 18671950 18671950 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:18671950G>A ENST00000308799.4 + 9 2114 c.1895G>A c.(1894-1896)gGg>gAg p.G632E FBXW10_ENST00000395665.4_Missense_Mutation_p.G603E|FBXW10_ENST00000395667.1_Missense_Mutation_p.G603E|FBXW10_ENST00000301938.4_Missense_Mutation_p.G603E Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 603 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 AGCATGGTGGGGAAGTACGAG 0.582000 12 14 0 0 0.004007 0 0 COL9A1 1297 broad.mit.edu 37 6 70944264 70944264 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:70944264C>T ENST00000357250.6 - 35 2450 c.2292G>A c.(2290-2292)caG>caA p.Q764Q RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000320755.7_Silent_p.Q521Q|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Silent_p.Q521Q NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 764 Nonhelical region (NC2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 TCATGCAAACCTGCTTAATGT 0.353000 6 14 0 0 0.001984 0 0 IGHG4 3503 broad.mit.edu 37 14 106091374 106091374 + RNA SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:106091374C>A ENST00000390543.2 - 0 519 TTGAACTGCTCCTCCCGCGGC 0.592000 33 206 1.45844e-13 1.59759e-13 0.013726 1 0 SLC38A1 81539 broad.mit.edu 37 12 46592514 46592514 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:46592514G>A ENST00000398637.5 - 14 1710 c.1016C>T c.(1015-1017)tCc>tTc p.S339F SLC38A1_ENST00000549049.1_Missense_Mutation_p.S339F|SLC38A1_ENST00000546893.1_Missense_Mutation_p.S339F|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Missense_Mutation_p.S339F|SLC38A1_ENST00000552197.1_Missense_Mutation_p.S339F NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3 NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3 Q9H2H9 S38A1_HUMAN solute carrier family 38, member 1 339 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) AAGGAGGTCGGACTGCACGTT 0.408000 18 23 0 0 0.010504 0 0 MYO1A 4640 broad.mit.edu 37 12 57431726 57431726 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:57431726C>T ENST00000442789.2 - 19 2175 c.1888G>A c.(1888-1890)Ggt>Agt p.G630S MYO1A_ENST00000544473.1_Missense_Mutation_p.G468S|MYO1A_ENST00000300119.3_Missense_Mutation_p.G630S NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 630 Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 GGCCCATAACCCTGGCGGTGG 0.632000 23 15 0 0 0.002780 0 0 ESRRB 2103 broad.mit.edu 37 14 76964706 76964706 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:76964706G>A ENST00000380887.2 + 7 1279 c.1207G>A c.(1207-1209)Gcc>Acc p.A403T ESRRB_ENST00000556177.1_Missense_Mutation_p.A403T|RP11-187O7.3_ENST00000554926.1_lincRNA|ESRRB_ENST00000261532.7_Missense_Mutation_p.A403T|ESRRB_ENST00000509242.1_Missense_Mutation_p.A403T A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 403 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(234;0.0213) GCGGCAGACGGCCGCCAAGGC 0.632000 5 11 0 0 0.001168 0 0 EPO 2056 broad.mit.edu 37 7 100320615 100320615 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:100320615C>T ENST00000252723.2 + 5 622 c.441C>T c.(439-441)tcC>tcT p.S147S NM_000799.2 NP_000790.2 P01588 EPO_HUMAN erythropoietin 147 blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction extracellular space erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1) 12 Lung NSC(181;0.041)|all_lung(186;0.0581) Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) AAGCCATCTCCCCTCCAGATG 0.537000 26 97 0 0 0.012213 0 0 CD8A 925 broad.mit.edu 37 2 87017743 87017743 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:87017743C>T ENST00000409511.2 - 5 1141 c.111G>A c.(109-111)gaG>gaA p.E37E CD8A_ENST00000456996.2_Silent_p.E37E|CD8A_ENST00000352580.3_Silent_p.E37E|CD8A_ENST00000283635.3_Silent_p.E37E|CD8A_ENST00000409781.1_Silent_p.E37E|CD8A_ENST00000538832.1_Silent_p.E78E NM_001145873.1 NP_001139345.1 P01732 CD8A_HUMAN CD8a molecule 37 Ig-like V-type. antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 8 GCTCCACTGTCTCGCCCAGGT 0.716000 16 25 0 0 0.007413 0 0 CLCA2 9635 broad.mit.edu 37 1 86921097 86921097 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:86921097T>C ENST00000370565.4 + 14 2881 c.2719T>C c.(2719-2721)Tta>Cta p.L907L NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 907 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) GAAAGGAGTTTTAACAGCAAT 0.398000 60 106 0 0 0.014410 0 0 KLHDC3 116138 broad.mit.edu 37 6 42985014 42985014 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:42985014C>T ENST00000326974.4 + 2 279 c.84C>T c.(82-84)tcC>tcT p.S28S KLHDC3_ENST00000244670.8_5'UTR|KLHDC3_ENST00000332245.8_Silent_p.S28S NM_057161.3 NP_476502.1 Q9BQ90 KLDC3_HUMAN kelch domain containing 3 28 reciprocal meiotic recombination cytoplasm|nuclear chromatin chromatin binding|protein binding cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GGGTATACTCCTTCGGGGGTT 0.587000 41 82 0 0 0.008740 0 0 ARHGEF3 50650 broad.mit.edu 37 3 56766272 56766272 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:56766272C>T ENST00000413728.2 - 9 1783 c.1240G>A c.(1240-1242)Gag>Aag p.E414K ARHGEF3_ENST00000497267.1_Missense_Mutation_p.E379K|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.E440K|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.E414K|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.E408K|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.E408K NM_001128616.1 NP_001122088.1 Q9NR81 ARHG3_HUMAN Rho guanine nucleotide exchange factor (GEF) 3 408 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193) ATACTTCTCTCATTGTTGCTG 0.557000 4 41 0 0 0.009096 0 0 FBXO40 51725 broad.mit.edu 37 3 121341093 121341093 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:121341093C>T ENST00000338040.4 + 3 1231 c.817C>T c.(817-819)Cag>Tag p.Q273* NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 273 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) ACAGGAAAATCAGAAGCAGCA 0.493000 11 32 0 0 0.008291 0 0 PSTPIP2 9050 broad.mit.edu 37 18 43591177 43591177 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:43591177G>A ENST00000409746.5 - 5 395 c.324C>T c.(322-324)ttC>ttT p.F108F PSTPIP2_ENST00000589328.1_Silent_p.F108F|PSTPIP2_ENST00000588801.1_5'UTR NM_024430.3 NP_077748.3 Q9H939 PPIP2_HUMAN proline-serine-threonine phosphatase interacting protein 2 108 membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 17 GCTTTTCCCTGAATTCTTCCA 0.373000 46 87 0 0 0.014410 0 0 PCSK2 5126 broad.mit.edu 37 20 17434578 17434578 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:17434578G>A ENST00000262545.2 + 9 1392 c.1077G>A c.(1075-1077)agG>agA p.R359R PCSK2_ENST00000377899.1_Silent_p.R340R|PCSK2_ENST00000536609.1_Silent_p.R324R NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 359 Catalytic. enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCAACGGGAGGAAAAGGAACC 0.592000 8 21 0 0 0.004482 0 0 COL1A2 1278 broad.mit.edu 37 7 94049955 94049955 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:94049955C>T ENST00000297268.6 + 37 2761 c.2290C>T c.(2290-2292)Cca>Tca p.P764S NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 764 Missing (in OI2A). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) AGCTGCTGGCCCAGCTGTAAG 0.507000 HNSCC(75;0.22) 10 4 0 0 0.008291 0 0 BEND2 139105 broad.mit.edu 37 X 18192218 18192218 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:18192218C>T ENST00000380033.4 - 12 2045 c.1913G>A c.(1912-1914)aGt>aAt p.S638N BEND2_ENST00000380030.3_Missense_Mutation_p.S547N NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 638 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 GATAGCATTACTGTTTGGCTG 0.403000 11 20 0 0 0.010729 0 0 TAAR6 319100 broad.mit.edu 37 6 132891909 132891909 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:132891909G>A ENST00000275198.1 + 1 449 c.449G>A c.(448-450)gGa>gAa p.G150E NM_175067.1 NP_778237.1 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 150 plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) TCTGTGTCAGGAATTTGCATC 0.502000 29 229 0 0 0.007291 0 0 MACF1 23499 broad.mit.edu 37 1 39852864 39852864 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:39852864C>T ENST00000564288.1 + 58 15127 c.14350C>T c.(14350-14352)Cgc>Tgc p.R4784C MACF1_ENST00000545844.1_Missense_Mutation_p.R2722C|MACF1_ENST00000372915.3_Missense_Mutation_p.R4789C|MACF1_ENST00000567887.1_Missense_Mutation_p.R4821C|MACF1_ENST00000361689.2_Missense_Mutation_p.R2722C|MACF1_ENST00000289893.4_Missense_Mutation_p.R3224C|MACF1_ENST00000317713.7_Missense_Mutation_p.R2722C|MACF1_ENST00000539005.1_Missense_Mutation_p.R2701C Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 4789 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TTCAGCCGATCGCATTAACAG 0.443000 60 122 0 0 0.014410 0 0 PDE4C 5143 broad.mit.edu 37 19 18332997 18332997 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:18332997C>T ENST00000355502.3 - 6 1250 c.379G>A c.(379-381)Gac>Aac p.D127N PDE4C_ENST00000594617.2_Missense_Mutation_p.D127N|PDE4C_ENST00000262805.11_Missense_Mutation_p.D95N|PDE4C_ENST00000594465.2_Missense_Mutation_p.D127N|PDE4C_ENST00000447275.2_Missense_Mutation_p.D21N Q08493 PDE4C_HUMAN phosphodiesterase 4C, cAMP-specific 127 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) AGTTCATAGTCGCTATCTGAG 0.652000 4 27 0 0 0.000602 0 0 KRT26 353288 broad.mit.edu 37 17 38928356 38928356 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:38928356G>A ENST00000335552.4 - 1 58 c.10C>T c.(10-12)Cga>Tga p.R4* NM_181539.4 NP_853517.2 Q7Z3Y9 K1C26_HUMAN keratin 26 4 Head. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) CCAGAAAGTCGAAAAGACATG 0.557000 47 17 0 0 0.010771 0 0 EPHA4 2043 broad.mit.edu 37 2 222365816 222365816 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:222365816G>A ENST00000281821.2 - 4 941 c.900C>T c.(898-900)gtC>gtT p.V300V EPHA4_ENST00000409938.1_Silent_p.V300V|EPHA4_ENST00000409854.1_Silent_p.V300V|EPHA4_ENST00000392071.4_Silent_p.V249V NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 300 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) CTCCTTCCCAGACAGAGTAGC 0.522000 20 39 0 0 0.012319 0 0 CACNA1B 774 broad.mit.edu 37 9 140777318 140777318 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:140777318C>T ENST00000371372.1 + 3 658 c.513C>T c.(511-513)ttC>ttT p.F171F RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371357.1_Silent_p.F171F|CACNA1B_ENST00000277551.2_Silent_p.F171F|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Silent_p.F171F|CACNA1B_ENST00000371355.4_Silent_p.F171F NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 171 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TCATGGACTTCGTGGTCGTCC 0.607000 35 229 0 0 0.010771 0 0 TM4SF19 116211 broad.mit.edu 37 3 196054333 196054333 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:196054333G>A ENST00000446879.1 - 2 254 c.129C>T c.(127-129)gtC>gtT p.V43V TM4SF19_ENST00000454715.1_Silent_p.V43V|TM4SF19_ENST00000273695.3_Silent_p.V43V Q96DZ7 T4S19_HUMAN transmembrane 4 L six family member 19 43 integral to membrane endometrium(2)|kidney(2)|large_intestine(3)|lung(5) 12 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00314) ACAGGTAGGTGACATCCCAGT 0.617000 17 65 0 0 0.006122 0 0 DPYS 1807 broad.mit.edu 37 8 105405184 105405184 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:105405184T>A ENST00000351513.2 - 8 1403 c.1271A>T c.(1270-1272)aAc>aTc p.N424I DPYS_ENST00000521601.1_Intron NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 424 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) AATGTTGAAGTTAACAGCCTG 0.413000 17 47 0 0 0.004990 0 0 SPRR4 163778 broad.mit.edu 37 1 152944534 152944534 + Silent SNP G G A rs147360157 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:152944534G>A ENST00000328051.2 + 2 217 c.168G>A c.(166-168)ccG>ccA p.P56P NM_173080.1 NP_775103.1 Q96PI1 SPRR4_HUMAN small proline-rich protein 4 56 Gln-rich. keratinization|peptide cross-linking cell cortex p.P56P(1) lung(1)|prostate(1) 2 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) AATGCCCACCGAAAGGCACCA 0.522000 20 51 0 0 0.012319 0 0 SORCS3 22986 broad.mit.edu 37 10 107022213 107022213 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:107022213G>A ENST00000369701.3 + 26 3795 c.3568G>A c.(3568-3570)Gag>Aag p.E1190K NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 1190 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GGAGCCTGAGGAGCTGCTGGA 0.532000 8 26 0 0 0.006214 0 0 RNF8 9025 broad.mit.edu 37 6 37336500 37336500 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:37336500T>A ENST00000373479.4 + 3 674 c.481T>A c.(481-483)Tta>Ata p.L161I RNF8_ENST00000469731.1_Missense_Mutation_p.L161I|RNF8_ENST00000479516.1_3'UTR NM_003958.3|NM_183078.2 NP_003949.1|NP_898901.1 O76064 RNF8_HUMAN ring finger protein 8, E3 ubiquitin protein ligase 161 cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation midbody|nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 13 TTTGGATGAATTAGCAGGTCC 0.383000 19 30 0 0 0.007413 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140763674 140763674 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140763674G>A ENST00000518325.1 + 1 1208 c.1208G>A c.(1207-1209)aGa>aAa p.R403K PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_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) AATTATTATAGATTGGTCACA 0.398000 3 1 0 0 0.004672 0 0 VWCE 220001 broad.mit.edu 37 11 61048587 61048587 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:61048587G>A ENST00000335613.5 - 8 1294 c.908C>T c.(907-909)cCt>cTt p.P303L NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 303 extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 AGCCCCAGAAGGAGGGCTATG 0.677000 24 32 0 0 0.003330 0 0 KIF21B 23046 broad.mit.edu 37 1 200943941 200943941 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:200943941C>T ENST00000332129.2 - 33 4992 c.4676G>A c.(4675-4677)tGg>tAg p.W1559* KIF21B_ENST00000360529.5_Nonsense_Mutation_p.W1559*|KIF21B_ENST00000422435.2_Nonsense_Mutation_p.W1572*|KIF21B_ENST00000461742.2_Nonsense_Mutation_p.W1572* NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1572 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 GTCCACGTTCCAGACCTTGAT 0.602000 44 96 0 0 0.014410 0 0 ATF7IP2 80063 broad.mit.edu 37 16 10525256 10525256 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:10525256C>T ENST00000396560.2 + 3 1006 c.779C>T c.(778-780)tCa>tTa p.S260L ATF7IP2_ENST00000396559.1_Missense_Mutation_p.S260L|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.S260L|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.S260L NM_024997.3 NP_079273.2 Q5U623 MCAF2_HUMAN activating transcription factor 7 interacting protein 2 260 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus large_intestine(3) 3 ACCAGTATTTCAAATTGTGAA 0.343000 12 38 0 0 0.003163 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21422553 21422553 + Missense_Mutation SNP C C T rs150224028 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:21422553C>T ENST00000307378.6 - 16 2662 c.1942G>A c.(1942-1944)Gaa>Aaa p.E648K SLCO1A2_ENST00000537524.1_Missense_Mutation_p.E516K|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.E516K|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.E648K NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 648 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 CACTCATTTTCCTTCCCTTTG 0.333000 28 42 0 0 0.007291 0 0 MUC13 56667 broad.mit.edu 37 3 124642454 124642454 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:124642454G>A ENST00000311075.3 - 3 592 c.554C>T c.(553-555)tCg>tTg p.S185L NM_033049.3 NP_149038.3 Q9H3R2 MUC13_HUMAN mucin 13, cell surface associated 185 EGF-like 1. extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 AACACATAACGAATTATCTGC 0.383000 13 28 0 0 0.001855 0 0 SLC9A1 6548 broad.mit.edu 37 1 27436209 27436209 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:27436209G>A ENST00000263980.3 - 3 1448 c.873C>T c.(871-873)atC>atT p.I291I SLC9A1_ENST00000374086.3_Silent_p.I291I|SLC9A1_ENST00000545949.1_5'UTR NM_003047.4 NP_003038.2 P19634 SL9A1_HUMAN solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 291 regulation of pH integral to membrane sodium:hydrogen antiporter activity central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046) Amiloride(DB00594) AGCCGAGGAAGATGTCCACGA 0.622000 34 73 0 0 0.003755 0 0 TSPAN10 83882 broad.mit.edu 37 17 79612079 79612079 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:79612079C>T ENST00000328585.4 + 0 188 TSPAN10_ENST00000572675.1_RNA NM_031945.3 NP_114151.3 Q9H1Z9 TSN10_HUMAN tetraspanin 10 integral to membrane ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) TGCCTAGGTCCAGTGCCCAGG 0.657000 10 29 0 0 0.013537 0 0 FOXR2 139628 broad.mit.edu 37 X 55650865 55650865 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:55650865C>T ENST00000339140.3 + 1 1033 c.721C>T c.(721-723)Cat>Tat p.H241Y NM_198451.3 NP_940853.1 Q6PJQ5 FOXR2_HUMAN forkhead box R2 241 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 GAGCACCATTCATTACAACCT 0.507000 30 9 0 0 0.013726 0 0 PGM5 5239 broad.mit.edu 37 9 71002416 71002416 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:71002416C>T ENST00000396396.1 + 4 838 c.609C>T c.(607-609)ctC>ctT p.L203L PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Silent_p.L203L NM_021965.3 NP_068800.2 Q15124 PGM5_HUMAN phosphoglucomutase 5 203 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34 ATCTTAACCTCCTTCGGACCA 0.438000 40 55 0 0 0.009718 0 0 MMP3 4314 broad.mit.edu 37 11 102713310 102713310 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:102713310C>T ENST00000299855.5 - 3 607 c.350_splice c.e3-1 p.R117_splice NM_002422.3 NP_002413.1 P08254 MMP3_HUMAN matrix metallopeptidase 3 (stromelysin 1, progelatinase) 117 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) AATTCACAATCCTGTAGGAGA 0.378000 22 48 0 0 0.012319 0 0 FBXO30 84085 broad.mit.edu 37 6 146127418 146127418 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:146127418G>A ENST00000237281.4 - 2 290 c.124C>T c.(124-126)Cat>Tat p.H42Y NM_032145.4 NP_115521.3 Q8TB52 FBX30_HUMAN F-box protein 30 42 ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Ovarian(120;0.0776) OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149) TTACAAGAATGGAAAACTGCA 0.438000 22 49 0 0 0.010504 0 0 ALS2 57679 broad.mit.edu 37 2 202617878 202617878 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:202617878C>T ENST00000264276.6 - 7 2100 c.1728G>A c.(1726-1728)gcG>gcA p.A576A NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 576 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 CCTGGGATTTCGCAGTAAGTG 0.403000 37 70 0 0 0.007835 0 0 MARVELD3 91862 broad.mit.edu 37 16 71674741 71674741 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:71674741G>A ENST00000299952.4 + 3 1087 c.1044G>A c.(1042-1044)tgG>tgA p.W348* MARVELD3_ENST00000561682.1_Intron|PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR NM_001017967.2 NP_001017967.2 Q96A59 MALD3_HUMAN MARVEL domain containing 3 351 MARVEL. integral to membrane NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) GTCTCACCTGGATGGACTGCC 0.587000 14 34 0 0 0.004990 0 0 MSR1 4481 broad.mit.edu 37 8 16026228 16026228 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:16026228C>T ENST00000350896.3 - 4 566 c.369G>A c.(367-369)aaG>aaA p.K123K MSR1_ENST00000262101.5_Silent_p.K123K|MSR1_ENST00000445506.2_Silent_p.K141K|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000355282.2_Silent_p.K123K|MSR1_ENST00000381998.4_Silent_p.K123K NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 123 cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) GCTGGATTCTCTTCTCCATGT 0.378000 34 87 0 0 0.005524 0 0 TCF21 6943 broad.mit.edu 37 6 134210590 134210590 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:134210590G>A ENST00000367882.4 + 1 315 c.55G>A c.(55-57)Gaa>Aaa p.E19K RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.E19K NM_003206.3 NP_003197.2 O43680 TCF21_HUMAN transcription factor 21 19 branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 13 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) GGAGATGTTGGAATGTGACGG 0.542000 30 51 0 0 0.012213 0 0 SI 6476 broad.mit.edu 37 3 164716441 164716441 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:164716441C>T ENST00000264382.3 - 38 4489 c.4427G>A c.(4426-4428)gGa>gAa p.G1476E NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1476 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) CCCTCTTTTTCCAGTTGTCTT 0.388000 HNSCC(35;0.089) 5 27 0 0 0.001984 0 0 KCNB2 9312 broad.mit.edu 37 8 73849256 73849256 + Missense_Mutation SNP C C T rs144823279 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:73849256C>T ENST00000523207.1 + 3 2254 c.1666C>T c.(1666-1668)Cca>Tca p.P556S NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 556 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) TCATTCTCACCCAAACCCAGA 0.512000 15 44 0 0 0.004990 0 0 SLC17A1 6568 broad.mit.edu 37 6 25799016 25799016 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:25799016G>A ENST00000244527.4 - 12 1516 c.1401C>T c.(1399-1401)ctC>ctT p.L467L SLC17A1_ENST00000468082.1_Silent_p.L413L|SLC17A1_ENST00000476801.1_Silent_p.L467L|SLC17A1_ENST00000427328.1_Silent_p.L413L NM_005074.3 NP_005065.2 Q14916 NPT1_HUMAN solute carrier family 17 (organic anion transporter), member 1 467 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 CTCACCTTCAGAGACGTGTGT 0.433000 24 49 0 0 0.003954 0 0 NAV3 89795 broad.mit.edu 37 12 78594372 78594372 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:78594372G>A ENST00000397909.2 + 38 7007 c.e38+1 NAV3_ENST00000541270.1_Splice_Site|NAV3_ENST00000228327.6_Splice_Site|NAV3_ENST00000266692.7_Splice_Site|NAV3_ENST00000536525.2_Splice_Site Q8IVL0 NAV3_HUMAN neuron navigator 3 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 GGGTCTTCAGGTATAGTACTC 0.318000 HNSCC(70;0.22) 23 11 0 0 0.014323 0 0 OR2T4 127074 broad.mit.edu 37 1 248524930 248524930 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:248524930C>T ENST00000366475.1 + 1 48 c.48C>T c.(46-48)ttC>ttT p.F16F NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 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) GGTCGGATTTCATCCTGATGG 0.493000 19 40 0 0 0.010504 0 0 PGM5P2 595135 broad.mit.edu 37 9 69127060 69127060 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:69127060C>T ENST00000591037.1 - 0 498 NR_002836.2 CTGCCTTGATCTTCCTGATAA 0.438000 8 20 0 0 0.006214 0 0 PAPPA2 60676 broad.mit.edu 37 1 176738765 176738765 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:176738765C>T ENST00000367662.3 + 16 5510 c.4346C>T c.(4345-4347)tCt>tTt p.S1449F NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1449 Sushi 1. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CTCACATGTTCTTCTGGGCAC 0.478000 30 42 0 0 0.012213 0 0 NOS2 4843 broad.mit.edu 37 17 26101376 26101376 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:26101376C>T ENST00000313735.6 - 12 1616 c.1383G>A c.(1381-1383)tgG>tgA p.W461* NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 461 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) CCAGCCAAATCCAGTCTGCCG 0.552000 18 20 0 0 0.007413 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3669801 3669801 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:3669801C>T ENST00000344754.4 - 20 5070 c.e20+1 SIGLEC1_ENST00000202578.4_Intron NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 TGAATGGATACCTGCGTGGTC 0.532000 41 63 0 0 0.010771 0 0 TF 7018 broad.mit.edu 37 3 133475779 133475779 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:133475779C>T ENST00000402696.3 + 7 1281 c.796C>T c.(796-798)Cct>Tct p.P266S TF_ENST00000264998.3_Missense_Mutation_p.P139S NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 266 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) GGCCCAGGTCCCTTCTCATAC 0.587000 15 53 0 0 0.006122 0 0 CCR5 1234 broad.mit.edu 37 3 46414700 46414700 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:46414700C>T ENST00000343801.4 + 3 664 c.307C>T c.(307-309)Ctc>Ttc p.L103F CCR5_ENST00000292303.4_Missense_Mutation_p.L103F|CCR5_ENST00000445772.1_Missense_Mutation_p.L103F|RP11-24F11.2_ENST00000451485.1_RNA NM_000579.3 NP_000570.1 P51681 CCR5_HUMAN chemokine (C-C motif) receptor 5 (gene/pseudogene) 103 cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection endosome|external side of plasma membrane|integral to plasma membrane actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) Maraviroc(DB04835) AATGTGTCAACTCTTGACAGG 0.488000 59 170 0 0 0.014410 0 0 VAPB 9217 broad.mit.edu 37 20 56993269 56993269 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:56993269C>T ENST00000475243.1 + 2 399 c.61C>T c.(61-63)Ccc>Tcc p.P21S VAPB_ENST00000265619.2_3'UTR|VAPB_ENST00000395802.3_Missense_Mutation_p.P21S NM_004738.4 NP_004729.1 O95292 VAPB_HUMAN VAMP (vesicle-associated membrane protein)-associated protein B and C 21 MSP. cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction endoplasmic reticulum membrane|Golgi apparatus|integral to membrane beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity kidney(2)|lung(3)|prostate(1) 6 Lung NSC(12;0.000615)|all_lung(29;0.00186) BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07) TTCTACAGGTCCCTTCACCGA 0.448000 18 65 0 0 0.008871 0 0 EPHA10 284656 broad.mit.edu 37 1 38185154 38185154 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:38185154G>A ENST00000373048.4 - 15 2687 c.2688C>T c.(2686-2688)atC>atT p.I896I EPHA10_ENST00000540011.1_Intron|EPHA10_ENST00000330210.7_Silent_p.I391I|EPHA10_ENST00000427468.2_Silent_p.I896I|EPHA10_ENST00000446149.2_5'UTR NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 896 Protein kinase. extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGATGCTGTGGATCTGGGAGA 0.617000 29 43 0 0 0.003271 0 0 CERS2 29956 broad.mit.edu 37 1 150936861 150936861 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:150936861C>T ENST00000561294.1 - 10 1087 c.1066G>A c.(1066-1068)Ggt>Agt p.G356S SETDB1_ENST00000271640.5_3'UTR|SETDB1_ENST00000368969.4_3'UTR Q96G23 CERS2_HUMAN ceramide synthase 2 0 endoplasmic reticulum membrane|integral to membrane|nuclear membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity TCTTCCCAACCCTTCTTGAAC 0.532000 4 9 0 0 0.009096 0 0 KAT6A 7994 broad.mit.edu 37 8 41801318 41801318 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:41801318C>T ENST00000396930.3 - 14 2719 c.2176G>A c.(2176-2178)Gac>Aac p.D726N KAT6A_ENST00000406337.1_Missense_Mutation_p.D726N|KAT6A_ENST00000265713.2_Missense_Mutation_p.D726N|KAT6A_ENST00000485568.1_Missense_Mutation_p.D726N NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 726 Catalytic.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding GAAGTGATGTCTTGAGGGCAG 0.403000 24 60 0 0 0.006320 0 0 OR2M4 26245 broad.mit.edu 37 1 248403085 248403085 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:248403085G>A ENST00000306687.1 + 1 855 c.855G>A c.(853-855)ctG>ctA p.L285L NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|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;0.0245) CCCCTATGCTGAACCCTCTCA 0.433000 21 30 0 0 0.014323 0 0 XYLT1 64131 broad.mit.edu 37 16 17232272 17232272 + Silent SNP G G A rs139802880 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:17232272G>A ENST00000261381.6 - 8 1788 c.1704C>T c.(1702-1704)atC>atT p.I568I CTD-2576D5.4_ENST00000567344.1_RNA NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 568 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 ACCAGTCCACGATGTGCTTGT 0.582000 7 38 0 0 0.006214 0 0 CLIC6 54102 broad.mit.edu 37 21 36081660 36081660 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr21:36081660G>A ENST00000360731.3 + 6 1777 c.1777G>A c.(1777-1779)Gaa>Aaa p.E593K CLIC6_ENST00000349499.2_Missense_Mutation_p.E575K Q96NY7 CLIC6_HUMAN chloride intracellular channel 6 593 GST C-terminal. chloride channel complex|cytoplasm|plasma membrane voltage-gated chloride channel activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 TTTAGTTCATGAAAAGAACCT 0.458000 9 37 0 0 0.004482 0 0 SLC16A6 9120 broad.mit.edu 37 17 66267746 66267746 + Silent SNP G G A rs141718604 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:66267746G>A ENST00000327268.4 - 6 719 c.555C>T c.(553-555)ttC>ttT p.F185F SLC16A6_ENST00000580666.1_Silent_p.F185F|ARSG_ENST00000448504.2_Intron NM_001174166.1 NP_001167637.1 O15403 MOT7_HUMAN solute carrier family 16, member 6 185 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2) 15 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) GTAGGCCCACGAAGAGGAGGC 0.458000 16 28 0 0 0.006122 0 0 DNAH5 1767 broad.mit.edu 37 5 13841984 13841984 + Silent SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:13841984A>T ENST00000265104.4 - 33 5405 c.5301T>A c.(5299-5301)tcT>tcA p.S1767S NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1767 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) CACCCTCTTGAGAGGAAATTG 0.333000 Kartagener syndrome 17 38 0 0 0.004990 0 0 PHLDB2 90102 broad.mit.edu 37 3 111632319 111632319 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:111632319G>A ENST00000431670.2 + 3 1900 c.1489G>A c.(1489-1491)Gaa>Aaa p.E497K PHLDB2_ENST00000412622.1_Missense_Mutation_p.E497K|PHLDB2_ENST00000477695.1_Missense_Mutation_p.E497K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E497K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E524K|PHLDB2_ENST00000495180.1_Missense_Mutation_p.E83K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E497K NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 497 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 TGTGTTTGAGGAAGCCCTCAT 0.532000 25 59 0 0 0.005443 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209591 140209591 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140209591G>A ENST00000529310.1 + 1 2029 c.1915G>A c.(1915-1917)Gaa>Aaa p.E639K PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTCCTGGACGAAGCGGACTC 0.667000 10 31 0 0 0.008291 0 0 RPP25L 138716 broad.mit.edu 37 9 34611258 34611258 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:34611258G>A ENST00000297613.4 - 2 316 c.36C>T c.(34-36)ctC>ctT p.L12L RPP25L_ENST00000378959.4_Silent_p.L12L NM_148179.2 NP_680545.1 Q8N5L8 CI023_HUMAN ribonuclease P/MRP 25kDa subunit-like 12 nucleic acid binding AAGGCGCTGGGAGCTCTACAG 0.582000 7 22 0 0 0.004482 0 0 JAK3 3718 broad.mit.edu 37 19 17945447 17945447 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:17945447G>A ENST00000458235.1 - 17 2382 c.2283C>T c.(2281-2283)gcC>gcT p.A761A JAK3_ENST00000527670.1_Silent_p.A761A|JAK3_ENST00000534444.1_Silent_p.A761A NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 761 Protein kinase 1. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.A761A(2) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 CCGGCTCATAGGCCATGCACT 0.612000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 27 67 0 0 0.009535 0 0 LPO 4025 broad.mit.edu 37 17 56320356 56320356 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:56320356C>T ENST00000262290.4 + 2 332 c.16C>T c.(16-18)Cat>Tat p.H6Y LPO_ENST00000421678.2_Missense_Mutation_p.H6Y|LPO_ENST00000582328.1_Missense_Mutation_p.H6Y|LPO_ENST00000543544.1_5'UTR NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 6 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 GGTCCTTCTCCATCTCCCAGC 0.537000 116 72 0 0 0.014410 0 0 GRHL1 29841 broad.mit.edu 37 2 10105479 10105479 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:10105479C>T ENST00000324907.9 + 8 1215 c.1079C>T c.(1078-1080)tCc>tTc p.S360F GRHL1_ENST00000324883.5_Missense_Mutation_p.S171F|GRHL1_ENST00000405379.2_Missense_Mutation_p.S360F NM_198182.2 NP_937825.2 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 (Drosophila) 360 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) AACGCCATTTCCTTCACATGG 0.443000 23 39 0 0 0.002780 0 0 MRPL44 65080 broad.mit.edu 37 2 224822312 224822312 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:224822312C>T ENST00000258383.3 + 1 192 c.123C>T c.(121-123)ttC>ttT p.F41F NM_022915.3 NP_075066.1 Q9H9J2 RM44_HUMAN mitochondrial ribosomal protein L44 41 RNA processing mitochondrion|ribosome double-stranded RNA binding|protein binding|ribonuclease III activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008) CCTTCCGCTTCCAGAAGGAGT 0.692000 4 16 0 0 0.000602 0 0 UBQLN4 56893 broad.mit.edu 37 1 156011382 156011382 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:156011382G>A ENST00000368309.3 - 10 1639 c.1547C>T c.(1546-1548)tCc>tTc p.S516F UBQLN4_ENST00000368307.1_Silent_p.F168F NM_020131.3 NP_064516.2 Q9NRR5 UBQL4_HUMAN ubiquilin 4 516 cytosol|endoplasmic reticulum membrane|nucleus identical protein binding p.S516F(1) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2) 16 Hepatocellular(266;0.133)|all_neural(408;0.195) GGCTGGTGAGGAAGTGGGGGC 0.607000 4 30 0 0 0.009096 0 0 MYH13 8735 broad.mit.edu 37 17 10265528 10265528 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:10265528C>T ENST00000418404.3 - 4 575 c.412G>A c.(412-414)Gag>Aag p.E138K MYH13_ENST00000570743.1_Missense_Mutation_p.E138K|MYH13_ENST00000252172.4_Missense_Mutation_p.E138K Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 138 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GCCACCACCTCGGGCTTGTAC 0.537000 21 37 0 0 0.013726 0 0 OR52E8 390079 broad.mit.edu 37 11 5878069 5878069 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:5878069G>A ENST00000537935.1 - 1 895 c.864C>T c.(862-864)gtC>gtT p.V288V TRIM5_ENST00000380027.1_Intron NM_001005168.1 NP_001005168.1 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, member 8 288 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) GGGCTGGTGGGACAACCACAT 0.408000 43 80 0 0 0.007835 0 0 OR7G1 125962 broad.mit.edu 37 19 9225996 9225996 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9225996G>A ENST00000293614.1 - 1 443 c.444C>T c.(442-444)tcC>tcT p.S148S OR7G1_ENST00000541538.1_Silent_p.S148S Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, member 1 148 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 TCATGAACATGGAGAGAAGAA 0.488000 22 55 0 0 0.003954 0 0 TTC7B 145567 broad.mit.edu 37 14 91123621 91123621 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:91123621G>A ENST00000357056.2 - 11 1359 c.1236_splice c.e11-1 p.S413_splice TTC7B_ENST00000328459.6_Splice_Site_p.S413_splice Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 413 binding NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 36 Melanoma(154;0.222) GGCACGGGCAGACTTGGCAAG 0.542000 11 27 0 0 0.010729 0 0 WFDC8 90199 broad.mit.edu 37 20 44187548 44187548 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:44187548C>T ENST00000357199.4 - 3 298 c.220G>A c.(220-222)Gaa>Aaa p.E74K WFDC8_ENST00000289953.2_Missense_Mutation_p.E74K NM_181510.2 NP_852611.2 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 74 WAP 1. extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1) 15 Myeloproliferative disorder(115;0.0122) TTCTGGTATTCCTTGCAGTCA 0.478000 28 83 0 0 0.009535 0 0 AKNA 80709 broad.mit.edu 37 9 117099518 117099518 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:117099518G>A ENST00000307564.4 - 22 4297 c.4136C>T c.(4135-4137)cCa>cTa p.P1379L AKNA_ENST00000374079.4_Missense_Mutation_p.P324L|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374075.5_Missense_Mutation_p.P1298L|AKNA_ENST00000223791.3_Missense_Mutation_p.P839L|AKNA_ENST00000374088.3_Missense_Mutation_p.P1379L NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 1379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 CCGGGCTGGTGGGGGAGAGGC 0.657000 7 47 0 0 0.004482 0 0 PAK4 10298 broad.mit.edu 37 19 39669193 39669193 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:39669193C>T ENST00000599386.1 + 9 1472 c.1291C>T c.(1291-1293)Ctc>Ttc p.L431F PAK4_ENST00000435673.2_Missense_Mutation_p.L584F|PAK4_ENST00000358301.3_Missense_Mutation_p.L584F|PAK4_ENST00000360442.3_Missense_Mutation_p.L584F|PAK4_ENST00000599470.1_Missense_Mutation_p.L431F|PAK4_ENST00000321944.4_Missense_Mutation_p.L494F|PAK4_ENST00000593690.1_Missense_Mutation_p.L584F NM_001014835.1 NP_001014835.1 O96013 PAK4_HUMAN p21 protein (Cdc42/Rac)-activated kinase 4 584 Protein kinase. cellular component movement|signal transduction Golgi apparatus ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 13 all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454) Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113) CATCGTGCCCCTCATGCGCCA 0.716000 8 24 0 0 0.003080 0 0 MYO18B 84700 broad.mit.edu 37 22 26164822 26164822 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:26164822C>T ENST00000335473.7 + 4 1189 c.939C>T c.(937-939)atC>atT p.I313I MYO18B_ENST00000536101.1_Silent_p.I313I|MYO18B_ENST00000407587.2_Silent_p.I313I NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 313 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GGCCCCAAATCCCTGGGAGAA 0.532000 5 13 0 0 0.001168 0 0 SCUBE1 80274 broad.mit.edu 37 22 43735128 43735128 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:43735128C>T ENST00000360835.3 - 2 328 c.202G>A c.(202-204)Gaa>Aaa p.E68K SCUBE1_ENST00000290460.7_Missense_Mutation_p.E68K NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 68 EGF-like 1; calcium-binding (Potential). adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) TGCTTGCCTTCCCCCTTGTAG 0.612000 25 51 0 0 0.004656 0 0 POM121C 100101267 broad.mit.edu 37 7 75051364 75051364 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:75051364G>A ENST00000453279.2 - 13 3035 c.2171C>T c.(2170-2172)cCc>cTc p.P724L POM121C_ENST00000257665.5_Missense_Mutation_p.P966L NM_001099415.1 NP_001092885.1 A8CG34 P121C_HUMAN POM121 transmembrane nucleoporin C 966 Pore side (Potential). mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 GCCAAAGCTGGGGGTAAGGGC 0.667000 5 18 0 0 0.003080 0 0 NTRK1 4914 broad.mit.edu 37 1 156843675 156843675 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:156843675C>T ENST00000368196.3 + 8 1221 c.1101C>T c.(1099-1101)ttC>ttT p.F367F NTRK1_ENST00000358660.3_Silent_p.F367F|NTRK1_ENST00000524377.1_Silent_p.F367F|NTRK1_ENST00000392302.2_Silent_p.F337F NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 367 activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) CCAACCCCTTCGGCCAGGCCT 0.647000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 3 8 0 0 0.004672 0 0 NAT2 10 broad.mit.edu 37 8 18258007 18258007 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:18258007G>A ENST00000286479.3 + 2 601 c.494G>A c.(493-495)aGg>aAg p.R165K NAT2_ENST00000520116.1_Missense_Mutation_p.R35K NM_000015.2 NP_000006.2 P11245 ARY2_HUMAN N-acetyltransferase 2 (arylamine N-acetyltransferase) 165 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2) 12 Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21) GACCAAATCAGGAGAGAGCAG 0.403000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 8 38 0 0 0.006214 0 0 CDK20 23552 broad.mit.edu 37 9 90584230 90584230 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:90584230G>A ENST00000375883.3 - 6 965 c.659C>T c.(658-660)tCc>tTc p.S220F CDK20_ENST00000325303.8_Missense_Mutation_p.S241F|CDK20_ENST00000605159.1_Missense_Mutation_p.S220F|CDK20_ENST00000375871.4_Missense_Mutation_p.P179S|CDK20_ENST00000336654.5_Missense_Mutation_p.S233F NM_001170639.1|NM_012119.4|NM_178432.3 NP_001164110.1|NP_036251.2|NP_848519.1 Q8IZL9 CDK20_HUMAN cyclin-dependent kinase 20 241 Protein kinase. cell division|multicellular organismal development cilium|mitochondrion|nucleus ATP binding|cyclin-dependent protein kinase activity skin(1) 1 CTCCTTAAAGGAGATCTTGTT 0.577000 19 74 0 0 0.012319 0 0 LYNX1 66004 broad.mit.edu 37 8 143846075 143846075 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:143846075C>T ENST00000335822.5 - 5 971 c.344G>A c.(343-345)gGc>gAc p.G115D LYNX1_ENST00000317543.7_Missense_Mutation_p.G81D|RP11-706C16.7_ENST00000523657.1_RNA|LYNX1_ENST00000523332.1_Intron NM_023946.2 NP_076435.1 Q86SR0 SLUR2_HUMAN Ly6/neurotoxin 1 81 extracellular region endometrium(1)|lung(2)|skin(1) 4 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TACGTAGGGGCCCAGGCCCAG 0.652000 28 49 0 0 0.006320 0 0 MYH8 4626 broad.mit.edu 37 17 10307766 10307766 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:10307766C>T ENST00000403437.2 - 22 2663 c.2569G>A c.(2569-2571)Gaa>Aaa p.E857K CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 857 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 TGGAATTCTTCCTTCATGGTG 0.448000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 16 64 0 0 0.004007 0 0 ATMIN 23300 broad.mit.edu 37 16 81075941 81075941 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:81075941C>T ENST00000566488.1 + 2 1013 c.50C>T c.(49-51)tCg>tTg p.S17L ATMIN_ENST00000299575.4_Missense_Mutation_p.S173L|ATMIN_ENST00000564241.1_Missense_Mutation_p.S17L|ATMIN_ENST00000539819.1_Intron O43313 ATMIN_HUMAN ATM interactor 173 Ala-rich. response to DNA damage stimulus nucleus zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 20 TGCAGCAATTCGTACGGTACA 0.493000 39 44 0 0 0.005524 0 0 TMEM132A 54972 broad.mit.edu 37 11 60699489 60699489 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:60699489G>A ENST00000005286.4 + 7 1402 c.1249G>A c.(1249-1251)Gga>Aga p.G417R TMEM132A_ENST00000453848.2_Missense_Mutation_p.G416R NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 416 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 ACCACTGACTGGAGTGCCCCA 0.662000 25 33 0 0 0.003330 0 0 KARS 3735 broad.mit.edu 37 16 75669881 75669881 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:75669881G>A ENST00000319410.5 - 6 803 c.682C>T c.(682-684)Ccg>Tcg p.P228S KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Missense_Mutation_p.P200S NM_001130089.1 NP_001123561.1 Q15046 SYK_HUMAN lysyl-tRNA synthetase 200 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 18 L-Lysine(DB00123) ATCTCATACGGAATGATGCTC 0.448000 15 22 0 0 0.002450 0 0 MYO3B 140469 broad.mit.edu 37 2 171358335 171358335 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:171358335A>G ENST00000334231.6 + 28 3357 c.3357A>G c.(3355-3357)atA>atG p.I1119M MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000409044.3_Intron|MYO3B_ENST00000408978.4_Missense_Mutation_p.I1110M Q8WXR4 MYO3B_HUMAN myosin IIIB 1110 response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 TTAAGAAAATAAGCAACAGAA 0.358000 7 25 0 0 0.006214 0 0 SZT2 23334 broad.mit.edu 37 1 43886602 43886602 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:43886602C>T ENST00000562955.1 + 10 1444 c.1444C>T c.(1444-1446)Cgt>Tgt p.R482C NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 482 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GCAGCCCATTCGTTCATTGTA 0.527000 46 116 0 0 0.014410 0 0 OTOGL 283310 broad.mit.edu 37 12 80761442 80761442 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:80761442C>T ENST00000458043.2 + 53 6412 c.6406C>T c.(6406-6408)Ctg>Ttg p.L2136L OTOGL_ENST00000546620.1_Silent_p.L155L|OTOGL_ENST00000547103.1_Silent_p.L2124L NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TATAGAGTGTCTGGAAGAAAA 0.323000 9 0 0 0 0.004482 0 0 OTOA 146183 broad.mit.edu 37 16 21709108 21709108 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:21709108C>T ENST00000388958.3 + 9 753 c.752C>T c.(751-753)tCa>tTa p.S251L OTOA_ENST00000286149.4_Missense_Mutation_p.S251L|OTOA_ENST00000388956.4_Missense_Mutation_p.S172L NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 251 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) GACTCTGCTTCATGGGTCAGT 0.353000 22 72 0 0 0.002780 0 0 SLC26A5 375611 broad.mit.edu 37 7 103050852 103050852 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:103050852C>T ENST00000306312.3 - 7 976 c.715G>A c.(715-717)Gga>Aga p.G239R SLC26A5_ENST00000393729.1_Missense_Mutation_p.G202R|SLC26A5_ENST00000393723.1_Missense_Mutation_p.G239R|SLC26A5_ENST00000432958.2_Missense_Mutation_p.G239R|SLC26A5_ENST00000393727.1_Missense_Mutation_p.G239R|SLC26A5_ENST00000393730.1_Missense_Mutation_p.G239R|SLC26A5_ENST00000393735.2_Missense_Mutation_p.G239R|SLC26A5_ENST00000339444.6_Missense_Mutation_p.G239R|SLC26A5_ENST00000356767.4_Missense_Mutation_p.G239R|SLC26A5_ENST00000354356.4_5'UTR NM_198999.2 NP_945350.1 P58743 S26A5_HUMAN solute carrier family 26 (anion exchanger), member 5 239 regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 GAAAAGATTCCACTGTACCGC 0.433000 14 37 0 0 0.003163 0 0 SEC24D 9871 broad.mit.edu 37 4 119666174 119666174 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:119666174G>A ENST00000379735.5 - 14 2023 c.1752C>T c.(1750-1752)tcC>tcT p.S584S SEC24D_ENST00000280551.6_Silent_p.S583S|SEC24D_ENST00000419654.2_Silent_p.S139S|SEC24D_ENST00000511481.1_Silent_p.S214S|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000429811.2_Silent_p.S139S NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 583 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 CAGTTGGCAAGGAAGAATGGA 0.398000 29 23 0 0 0.009535 0 0 GRIK2 2898 broad.mit.edu 37 6 102124583 102124583 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:102124583G>A ENST00000369138.1 + 4 1117 c.627G>A c.(625-627)aaG>aaA p.K209K GRIK2_ENST00000421544.1_Silent_p.K209K|GRIK2_ENST00000413795.1_Silent_p.K209K|GRIK2_ENST00000358361.3_Silent_p.K209K|GRIK2_ENST00000318991.6_Silent_p.K209K|GRIK2_ENST00000369134.4_Silent_p.K160K|GRIK2_ENST00000369137.3_Silent_p.K209K NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 209 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) CTGATACAAAGGATGCAAAAC 0.368000 9 22 0 0 0.004482 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45567095 45567095 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:45567095C>T ENST00000588982.1 - 3 885 c.384G>A c.(382-384)gaG>gaA p.E128E ZBTB7C_ENST00000586438.1_Silent_p.E128E|ZBTB7C_ENST00000535628.2_Silent_p.E128E|ZBTB7C_ENST00000332053.2_Silent_p.E128E|ZBTB7C_ENST00000590800.1_Silent_p.E128E A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 128 Glu-rich. intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 cccccCCAGGCTCCATGATCT 0.592000 5 19 0 0 0.000602 0 0 KDR 3791 broad.mit.edu 37 4 55970896 55970896 + Nonsense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:55970896A>T ENST00000263923.4 - 13 2196 c.1901T>A c.(1900-1902)tTg>tAg p.L634* NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 634 Ig-like C2-type 6. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TTGGTCCTGCAAGGATGCATT 0.443000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 14 15 0 0 0.001855 0 0 TEKT4 150483 broad.mit.edu 37 2 95540641 95540641 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:95540641C>T ENST00000295201.4 + 4 971 c.834C>T c.(832-834)tcC>tcT p.S278S AC097374.2_ENST00000568768.1_RNA NM_144705.2 NP_653306.1 Q8WW24 TEKT4_HUMAN tektin 4 278 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 28 GCGACACCTCCGAGGACCTGC 0.682000 3 15 0 0 0.004672 0 0 XKR4 114786 broad.mit.edu 37 8 56435906 56435906 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:56435906G>A ENST00000327381.5 + 3 1173 c.1073G>A c.(1072-1074)cGg>cAg p.R358Q NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 358 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) AAGGCCCTCCGGGACTCTCGA 0.577000 6 28 0 0 0.001168 0 0 FREM1 158326 broad.mit.edu 37 9 14789061 14789061 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:14789061C>T ENST00000380881.4 - 24 4851 c.4036G>A c.(4036-4038)Gaa>Aaa p.E1346K FREM1_ENST00000380880.3_Missense_Mutation_p.E1345K|FREM1_ENST00000422223.2_Missense_Mutation_p.E1345K Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1345 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) AGATCCACTTCCTCCTGAGTG 0.507000 6 4 0 0 0.001168 0 0 CMA1 1215 broad.mit.edu 37 14 24975483 24975483 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:24975483C>T ENST00000250378.3 - 4 380 c.351G>A c.(349-351)aaG>aaA p.K117K RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Silent_p.K6K NM_001836.3 NP_001827.1 P23946 CMA1_HUMAN chymase 1, mast cell 117 Peptidase S1. interleukin-1 beta biosynthetic process|proteolysis extracellular region serine-type endopeptidase activity kidney(1)|lung(8)|pancreas(1)|prostate(1) 11 GBM - Glioblastoma multiforme(265;0.0271) TGGCTTTCTCCTTCAACTGTG 0.557000 5 33 0 0 0.004482 0 0 SH3RF3 344558 broad.mit.edu 37 2 110065723 110065723 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:110065723C>T ENST00000309415.6 + 8 1926 c.1926C>T c.(1924-1926)ctC>ctT p.L642L NM_001099289.1 NP_001092759.1 Q8TEJ3 SH3R3_HUMAN SH3 domain containing ring finger 3 642 zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2) 18 CCACCAGCCTCAGGCCCCACT 0.692000 7 7 0 0 0.003080 0 0 SDK1 221935 broad.mit.edu 37 7 3861081 3861081 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:3861081G>A ENST00000404826.2 + 5 852 c.e5-1 SDK1_ENST00000389531.3_Splice_Site NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TTCTGAAACAGAGCCATCACA 0.453000 20 43 0 0 0.012319 0 0 OR2M4 26245 broad.mit.edu 37 1 248402372 248402372 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:248402372C>T ENST00000306687.1 + 1 142 c.142C>T c.(142-144)Ctc>Ttc p.L48F NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|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;0.0245) CATGGTTCTCCTCATCTACAT 0.483000 37 69 0 0 0.006999 0 0 TRIM56 81844 broad.mit.edu 37 7 100730624 100730624 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:100730624C>T ENST00000306085.6 + 3 328 c.31C>T c.(31-33)Ctg>Ttg p.L11L NM_030961.1 NP_112223.1 Q9BRZ2 TRI56_HUMAN tripartite motif containing 56 11 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(181;0.136)|all_lung(186;0.182) GCCCTCCCTCCTGGAGGCCCT 0.612000 50 84 0 0 0.014410 0 0 ANK3 288 broad.mit.edu 37 10 61831637 61831637 + Missense_Mutation SNP T T G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:61831637T>G ENST00000280772.1 - 37 9193 c.9002A>C c.(9001-9003)aAa>aCa p.K3001T 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) 3001 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 AACTGTCTCTTTACTCATGCT 0.363000 8 23 0 0 0.003080 0 0 KIAA0319 9856 broad.mit.edu 37 6 24596614 24596614 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:24596614G>A ENST00000535378.1 - 4 903 c.261C>T c.(259-261)atC>atT p.I87I KIAA0319_ENST00000537886.1_Silent_p.I96I|KIAA0319_ENST00000378214.3_Silent_p.I96I|KIAA0319_ENST00000543707.1_Silent_p.I96I|KIAA0319_ENST00000430948.2_Silent_p.I51I NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 96 MANSC. negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 GATAAGACCTGATGGGGCCCA 0.602000 10 54 0 0 0.010729 0 0 KCNK1 3775 broad.mit.edu 37 1 233807017 233807017 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:233807017G>A ENST00000366621.3 + 3 920 c.751_splice c.e3-1 p.C251_splice KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Splice_Site_p.C135_splice NM_002245.3 NP_002236.1 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 251 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) TCTCACACAGGTTACCTGCTA 0.418000 40 79 0 0 0.014410 0 0 DNAH17 8632 broad.mit.edu 37 17 76525736 76525736 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:76525736C>T ENST00000389840.5 - 22 3449 c.3325G>A c.(3325-3327)Ggc>Agc p.G1109S DNAH17_ENST00000585328.1_Missense_Mutation_p.G1106S dynein, axonemal, heavy chain 17 p.G1106C(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TTGGTCAAGCCCATTCTGGCG 0.582000 23 13 0 0 0.003330 0 0 IQCH 64799 broad.mit.edu 37 15 67687867 67687867 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:67687867C>T ENST00000335894.4 + 13 1937 c.1871C>T c.(1870-1872)cCt>cTt p.P624L IQCH_ENST00000546225.1_Intron|IQCH_ENST00000360277.4_Intron|IQCH_ENST00000358767.3_Intron NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 624 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) GTGGCAGTTCCTCCTGGAATA 0.423000 19 29 0 0 0.008871 0 0 KSR1 8844 broad.mit.edu 37 17 25950394 25950394 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:25950394G>A ENST00000578981.1 + 2 294 c.116G>A c.(115-117)tGg>tAg p.W39* AC015688.3_ENST00000584605.1_Nonsense_Mutation_p.W2*|KSR1_ENST00000319524.6_Silent_p.L916L|KSR1_ENST00000268763.6_Silent_p.L779L|KSR1_ENST00000398988.3_3'UTR|KSR1_ENST00000582410.1_3'UTR Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 0 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) TGGGCGTCCTGGAGTCCAGTA 0.428000 14 10 0 0 0.006122 0 0 COL4A3 1285 broad.mit.edu 37 2 228157935 228157935 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:228157935G>A ENST00000396578.3 + 38 3401 c.3239G>A c.(3238-3240)gGa>gAa p.G1080E AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 1080 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGTGATATGGGAAAGAAAGGA 0.498000 8 18 0 0 0.003080 0 0 DDX60 55601 broad.mit.edu 37 4 169167643 169167643 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:169167643G>A ENST00000393743.3 - 30 4381 c.4090C>T c.(4090-4092)Ctc>Ttc p.L1364F NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1364 Helicase C-terminal. 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) GTTATGCTGAGAGGGAAGTGT 0.488000 24 15 0 0 0.003330 0 0 F3 2152 broad.mit.edu 37 1 94997929 94997929 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:94997929C>T ENST00000334047.7 - 5 862 c.699G>A c.(697-699)aaG>aaA p.K233K F3_ENST00000370207.4_Intron NM_001993.4 NP_001984.1 P13726 TF_HUMAN coagulation factor III (thromboplastin, tissue factor) 233 activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade extracellular matrix|extracellular space|integral to membrane cell surface binding|phospholipid binding|protease binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7) 14 all_lung(203;0.00106)|Lung NSC(277;0.00475) all cancers(265;0.0232)|Epithelial(280;0.121) Coagulation factor VIIa(DB00036) TGTCTGTACTCTTCCGGTTAA 0.488000 34 67 0 0 0.003271 0 0 LIN28B 389421 broad.mit.edu 37 6 105406086 105406086 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:105406086G>A ENST00000345080.4 + 2 326 c.123G>A c.(121-123)atG>atA p.M41I NM_001004317.3 NP_001004317.1 Q6ZN17 LN28B_HUMAN lin-28 homolog B (C. elegans) 41 CSD. 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) ATGTGCGCATGGGATTTGGAT 0.522000 44 71 0 0 0.009718 0 0 MYO7A 4647 broad.mit.edu 37 11 76909548 76909548 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:76909548C>T ENST00000409709.3 + 34 4722 c.4450C>T c.(4450-4452)Ctc>Ttc p.L1484F MYO7A_ENST00000409619.2_Missense_Mutation_p.L1473F|MYO7A_ENST00000458637.2_Missense_Mutation_p.L1484F NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 1484 FERM 1. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 AGGCCCCAGTCTCCCCAAGAA 0.592000 5 41 0 0 0.000602 0 0 DSG1 1828 broad.mit.edu 37 18 28934722 28934722 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:28934722G>A ENST00000257192.4 + 15 2775 c.2563G>A c.(2563-2565)Gat>Aat p.D855N RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.D214N|RP11-534N16.1_ENST00000581856.1_RNA NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 855 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) GCACGTTCACGATAACCGACC 0.517000 36 77 0 0 0.006230 0 0 MRPL13 28998 broad.mit.edu 37 8 121426320 121426320 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:121426320A>G ENST00000306185.3 - 6 716 c.425T>C c.(424-426)gTa>gCa p.V142A NM_014078.5 NP_054797.2 Q9BYD1 RM13_HUMAN mitochondrial ribosomal protein L13 142 translation mitochondrial large ribosomal subunit protein binding|structural constituent of ribosome central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 6 Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) AAGCTCCTCTACTAAATTCTT 0.303000 16 14 0 0 0.004007 0 0 OSBPL5 114879 broad.mit.edu 37 11 3115047 3115047 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:3115047T>C ENST00000263650.7 - 16 1897 c.1738A>G c.(1738-1740)Acc>Gcc p.T580A OSBPL5_ENST00000525498.1_Missense_Mutation_p.T491A|OSBPL5_ENST00000542243.1_Missense_Mutation_p.T211A|OSBPL5_ENST00000348039.5_Missense_Mutation_p.T512A|OSBPL5_ENST00000478260.1_Missense_Mutation_p.T34A|OSBPL5_ENST00000389989.3_Missense_Mutation_p.T512A NM_020896.3 NP_065947.1 Q9H0X9 OSBL5_HUMAN oxysterol binding protein-like 5 580 cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 25 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) TTGATGCTGGTGCTACCCCCG 0.652000 8 15 0 0 0.003080 0 0 TTN 7273 broad.mit.edu 37 2 179639836 179639836 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179639836G>A ENST00000589042.1 - 29 6826 c.6602C>T c.(6601-6603)cCa>cTa p.P2201L TTN_ENST00000460472.2_Missense_Mutation_p.P2155L|TTN_ENST00000360870.5_Missense_Mutation_p.P2201L|TTN_ENST00000359218.5_Missense_Mutation_p.P2155L|TTN_ENST00000342992.6_Missense_Mutation_p.P2201L|TTN_ENST00000342175.6_Missense_Mutation_p.P2155L|TTN_ENST00000591111.1_Missense_Mutation_p.P2201L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1950 Ig-like 11. 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) TTTGACAAATGGTTCTGAAGT 0.393000 12 31 0 0 0.010729 0 0 MGAM 8972 broad.mit.edu 37 7 141740542 141740542 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:141740542G>A ENST00000475668.2 + 21 2448 c.2394G>A c.(2392-2394)agG>agA p.R798R MGAM_ENST00000549489.2_Silent_p.R798R O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 798 Maltase. 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) TGAGATGGAGGAAGCAAAAAG 0.468000 5 22 0 0 0.000602 0 0 PCLO 27445 broad.mit.edu 37 7 82763878 82763878 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:82763878C>T ENST00000423517.2 - 3 3325 c.2988G>A c.(2986-2988)gtG>gtA p.V996V PCLO_ENST00000333891.8_Silent_p.V996V NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 942 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.V996V(4)|p.V942V(2) 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 TTTCCTTTTTCACAGGTATAC 0.468000 8 31 0 0 0.006214 0 0 EPS15 2060 broad.mit.edu 37 1 51929354 51929354 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:51929354G>A ENST00000371733.3 - 7 588 c.492C>T c.(490-492)atC>atT p.I164I EPS15_ENST00000371730.2_Silent_p.I164I NM_001981.2 NP_001972.1 P42566 EPS15_HUMAN epidermal growth factor receptor pathway substrate 15 164 EF-hand 1.|EH 2. cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding p.0?(1) endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2) 35 CTCTTCCAAGGATATCCACAG 0.303000 T MLL ALL 7 29 0 0 0.001984 0 0 CEP85L 387119 broad.mit.edu 37 6 118791736 118791736 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:118791736T>C ENST00000368491.3 - 11 2607 c.1986A>G c.(1984-1986)gaA>gaG p.E662E CEP85L_ENST00000368488.5_Silent_p.E665E NM_001042475.2 NP_001035940.1 Q5SZL2 CF204_HUMAN centrosomal protein 85kDa-like 662 centrosome GTACATTTCTTTCTTTCTTTT 0.303000 11 72 0 0 0.002450 0 0 AADACL2 344752 broad.mit.edu 37 3 151475146 151475146 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:151475146G>A ENST00000356517.3 + 5 1079 c.970G>A c.(970-972)Gat>Aat p.D324N RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA NM_207365.3 NP_997248.2 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 324 extracellular region|integral to membrane carboxylesterase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2) 24 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) GTTGGCCAATGATTCTCAGTT 0.363000 21 69 0 0 0.003954 0 0 CXXC5 51523 broad.mit.edu 37 5 139060274 139060274 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:139060274C>T ENST00000302517.3 + 2 880 c.166C>T c.(166-168)Ccc>Tcc p.P56S CXXC5_ENST00000511048.1_Missense_Mutation_p.P56S NM_016463.7 NP_057547.5 Q7LFL8 CXXC5_HUMAN CXXC finger protein 5 56 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|nucleus DNA binding|signal transducer activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACACCACCCCCCGAGCGTCG 0.642000 9 27 0 0 0.004482 0 0 MET 4233 broad.mit.edu 37 7 116380952 116380952 + Missense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:116380952C>A ENST00000397752.3 + 5 1774 c.1574C>A c.(1573-1575)tCc>tAc p.S525Y MET_ENST00000318493.6_Missense_Mutation_p.S525Y|MET_ENST00000495962.1_3'UTR|MET_ENST00000436117.2_Missense_Mutation_p.S525Y NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 525 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) CATTTCCAGTCCTGCAGTCAA 0.517000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 31 100 7.01153e-11 7.67353e-11 0.007291 1 0 RP1 6101 broad.mit.edu 37 8 55541954 55541954 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:55541954C>T ENST00000220676.1 + 4 5660 c.5512C>T c.(5512-5514)Cgc>Tgc p.R1838C NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1838 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GCTGGATGTTCGCAATGAAAC 0.423000 7 14 0 0 0.001984 0 0 ANGPTL4 51129 broad.mit.edu 37 19 8436279 8436279 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:8436279C>T ENST00000301455.2 + 6 1083 c.912C>T c.(910-912)ctC>ctT p.L304L ANGPTL4_ENST00000541807.1_Silent_p.L137L|ANGPTL4_ENST00000393962.2_Silent_p.L266L NM_139314.1 NP_647475.1 Q9BY76 ANGL4_HUMAN angiopoietin-like 4 304 Fibrinogen C-terminal. L -> F (in Ref. 1; AAF62868). angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis extracellular space|proteinaceous extracellular matrix enzyme inhibitor activity|receptor binding large_intestine(1)|lung(1)|ovary(2)|skin(2) 6 GCCTGCAGCTCACTGCACCCG 0.697000 12 32 0 0 0.013537 0 0 KMT2C 58508 broad.mit.edu 37 7 151884809 151884809 + Missense_Mutation SNP G G A rs149660967 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:151884809G>A ENST00000355193.2 - 32 5002 c.4784C>T c.(4783-4785)cCt>cTt p.P1595L KMT2C_ENST00000262189.6_Missense_Mutation_p.P1595L lysine (K)-specific methyltransferase 2C CCTGGCATCAGGATAAGAGGA 0.373000 13 30 0 0 0.001855 0 0 CILP2 148113 broad.mit.edu 37 19 19655535 19655535 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:19655535C>T ENST00000586018.1 + 8 2301 c.2199C>T c.(2197-2199)ttC>ttT p.F733F CILP2_ENST00000291495.4_Silent_p.F727F Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 727 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 GGCGCCTGTTCAATCTGGACG 0.706000 6 17 0 0 0.001168 0 0 OR2A5 393046 broad.mit.edu 37 7 143747527 143747527 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:143747527C>T ENST00000408906.2 + 1 67 c.33C>T c.(31-33)ttC>ttT p.F11F NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) TCACAGAATTCATTCTCCTGG 0.502000 27 75 0 0 0.007291 0 0 GRM3 2913 broad.mit.edu 37 7 86468417 86468417 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:86468417G>A ENST00000361669.2 + 4 2686 c.1587G>A c.(1585-1587)tgG>tgA p.W529* GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Nonsense_Mutation_p.W121*|GRM3_ENST00000536043.1_Nonsense_Mutation_p.W401* NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 529 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) TCTGCTGCTGGATTTGCATCC 0.542000 21 60 0 0 0.012319 0 0 CYLC1 1538 broad.mit.edu 37 X 83129566 83129566 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:83129566C>T ENST00000329312.4 + 4 1887 c.1850C>T c.(1849-1851)cCa>cTa p.P617L NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 617 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 CCTTCTCTACCATCACCAAAG 0.418000 10 8 0 0 0.001855 0 0 MUC16 94025 broad.mit.edu 37 19 9089446 9089446 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9089446G>A ENST00000397910.4 - 1 2572 c.2369C>T c.(2368-2370)tCc>tTc p.S790F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 790 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 AGTCAGAGGGGAAGTTGCATT 0.507000 72 125 0 0 0.014410 0 0 PHACTR4 65979 broad.mit.edu 37 1 28785614 28785614 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:28785614C>T ENST00000373839.3 + 3 296 c.35C>T c.(34-36)aCt>aTt p.T12I PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.T22I NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 12 actin binding|protein phosphatase inhibitor activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) GACCAGCCCACTACAGAGCCA 0.473000 8 35 0 0 0.003080 0 0 GABRP 2568 broad.mit.edu 37 5 170235728 170235728 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:170235728C>T ENST00000518525.1 + 9 1268 c.804C>T c.(802-804)ctC>ctT p.L268L GABRP_ENST00000519385.1_Silent_p.L268L|GABRP_ENST00000519598.1_Silent_p.L268L|GABRP_ENST00000265294.4_Silent_p.L268L O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 268 cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 29 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GGATCTCTCTCGATTCAGTCC 0.423000 4 34 0 0 0.009096 0 0 LRP1B 53353 broad.mit.edu 37 2 140990791 140990791 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:140990791C>T ENST00000389484.3 - 91 14735 c.13764G>A c.(13762-13764)aaG>aaA p.K4588K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4588 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) TTTCTATTTTCTTTGGAAGCA 0.318000 TSP Lung(27;0.18) 18 11 0 0 0.006122 0 0 MYO5B 4645 broad.mit.edu 37 18 47563306 47563306 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:47563306G>A ENST00000285039.7 - 4 668 c.369C>T c.(367-369)gtC>gtT p.V123V NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 123 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) AGGTATAGATGACATCTTGTC 0.473000 17 30 0 0 0.004007 0 0 PTPRD 5789 broad.mit.edu 37 9 8331682 8331682 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:8331682C>T ENST00000381196.4 - 41 5977 c.5434G>A c.(5434-5436)Gga>Aga p.G1812R PTPRD_ENST00000358503.5_Missense_Mutation_p.G1790R|PTPRD_ENST00000486161.1_Missense_Mutation_p.G1405R|PTPRD_ENST00000356435.5_Missense_Mutation_p.G1812R|PTPRD_ENST00000397617.3_Missense_Mutation_p.G1405R|PTPRD_ENST00000397606.3_Missense_Mutation_p.G1405R|PTPRD_ENST00000397611.3_Missense_Mutation_p.G1402R|PTPRD_ENST00000355233.5_Missense_Mutation_p.G1406R|PTPRD_ENST00000537002.1_Missense_Mutation_p.G1402R|PTPRD_ENST00000540109.1_Missense_Mutation_p.G1812R|PTPRD_ENST00000360074.4_Missense_Mutation_p.G1799R NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1812 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TTTGGCACTCCTTGCTCTGGC 0.512000 TSP Lung(15;0.13) 14 69 0 0 0.004007 0 0 PCDH12 51294 broad.mit.edu 37 5 141336751 141336751 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:141336751G>A ENST00000231484.3 - 1 1876 c.666C>T c.(664-666)ccC>ccT p.P222P NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 222 Cadherin 2. neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGACTTGGGGGGGTTCCCAT 0.478000 19 54 0 0 0.008871 0 0 IGKV2-30 28919 broad.mit.edu 37 2 89544305 89544305 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:89544305C>T ENST00000468494.1 - 0 348 ACCCCAACATCCTCAGCCTCC 0.537000 11 67 0 0 0.002450 0 0 RASL12 51285 broad.mit.edu 37 15 65347594 65347594 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:65347594C>T ENST00000220062.4 - 5 720 c.444G>A c.(442-444)gaG>gaA p.E148E RASL12_ENST00000434605.2_Silent_p.E137E|RASL12_ENST00000421977.3_Silent_p.E129E NM_016563.2 NP_057647.1 Q9NYN1 RASLC_HUMAN RAS-like, family 12 148 small GTPase mediated signal transduction membrane GTP binding|GTPase activity lung(1)|ovary(1)|skin(1)|urinary_tract(1) 4 AAGCCACACCCTCTGCCTTGG 0.602000 3 6 0 0 0.004672 0 0 EFCAB13 124989 broad.mit.edu 37 17 45422425 45422425 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:45422425G>A ENST00000331493.2 + 8 889 c.478G>A c.(478-480)Gaa>Aaa p.E160K EFCAB13_ENST00000517484.1_Missense_Mutation_p.E160K NM_152347.4 NP_689560.3 EF-hand calcium binding domain 13 ATTATATGATGAAGTAACCCA 0.318000 71 49 0 0 0.014410 0 0 NLRP10 338322 broad.mit.edu 37 11 7981506 7981506 + Silent SNP C C T rs144039243 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:7981506C>T ENST00000328600.2 - 2 1814 c.1653G>A c.(1651-1653)caG>caA p.Q551Q NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 551 ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TAGATTCCATCTGTTCTTTAA 0.393000 13 35 0 0 0.013537 0 0 SLC28A2 9153 broad.mit.edu 37 15 45555390 45555390 + Missense_Mutation SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:45555390A>C ENST00000347644.3 + 5 459 c.394A>C c.(394-396)Aca>Cca p.T132P CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA NM_004212.3 NP_004203.2 O43868 S28A2_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 2 132 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) CAAAAAATTAACAAGATGTCT 0.463000 4 24 0 0 0.000602 0 0 SMOC1 64093 broad.mit.edu 37 14 70461189 70461189 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:70461189G>A ENST00000381280.4 + 7 909 c.656G>A c.(655-657)aGa>aAa p.R219K SMOC1_ENST00000361956.3_Missense_Mutation_p.R219K NM_001034852.2|NM_022137.5 NP_001030024.1|NP_071420.1 Q9H4F8 SMOC1_HUMAN SPARC related modular calcium binding 1 219 cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) ACCAACATAAGAAATTCAGGT 0.413000 63 74 0 0 0.014410 0 0 FMO2 2327 broad.mit.edu 37 1 171168536 171168536 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:171168536C>T ENST00000441535.1 + 5 653 c.536C>T c.(535-537)cCa>cTa p.P179L RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.P179L|FMO2_ENST00000529935.1_Intron NM_001460.2 NP_001451.1 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 (non-functional) 179 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 22 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TACAAGCATCCAGATGGATTT 0.478000 30 52 0 0 0.013726 0 0 GZMA 3001 broad.mit.edu 37 5 54404085 54404085 + Missense_Mutation SNP G G A rs149445760 by1000genomes TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:54404085G>A ENST00000274306.6 + 4 525 c.490G>A c.(490-492)Gat>Aat p.D164N NM_006144.3 NP_006135.1 P12544 GRAA_HUMAN granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) 164 Peptidase S1. cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis extracellular region|immunological synapse|nucleus protein homodimerization activity|serine-type endopeptidase activity p.D164N(1) NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 25 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) ATCTTGGTCCGATACTCTGAG 0.428000 5 28 0 0 0.001984 0 0 GINS2 51659 broad.mit.edu 37 16 85721180 85721180 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:85721180C>T ENST00000253462.3 - 2 191 c.90_splice c.e2-1 p.G31_splice NM_016095.2 NP_057179.1 Q9Y248 PSF2_HUMAN GINS complex subunit 2 (Psf2 homolog) 31 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle nucleoplasm protein binding endometrium(2)|large_intestine(2)|lung(2) 6 CCCAGGTCCCCCTGCCAAAAG 0.478000 10 36 0 0 0.006214 0 0 POM121L12 285877 broad.mit.edu 37 7 53103609 53103609 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:53103609C>T ENST00000408890.4 + 1 261 c.245C>T c.(244-246)cCc>cTc p.P82L NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 82 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GAGGTGCGGCCCACCCAGGAC 0.711000 14 27 0 0 0.004007 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 105011256 105011256 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:105011256G>A ENST00000372582.1 + 11 2419 c.1663G>A c.(1663-1665)Gaa>Aaa p.E555K IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.E160K|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.E555K NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 555 TIR. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CTTAGTATATGAAATGCCCAT 0.423000 47 28 0 0 0.014410 0 0 OR5K2 402135 broad.mit.edu 37 3 98217208 98217208 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:98217208G>A ENST00000427338.1 + 1 761 c.684G>A c.(682-684)atG>atA p.M228I CLDND1_ENST00000502288.1_Intron NM_001004737.1 NP_001004737.1 Q8NHB8 OR5K2_HUMAN olfactory receptor, family 5, subfamily K, member 2 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 TTTTCAGAATGAAATCCAAGG 0.343000 19 32 0 0 0.007413 0 0 TACR3 6870 broad.mit.edu 37 4 104510994 104510994 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:104510994G>A ENST00000304883.2 - 5 1383 c.1243C>T c.(1243-1245)Ccc>Tcc p.P415S RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 415 integral to plasma membrane tachykinin receptor activity p.P415A(1) 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) GCATCGTTGGGGTCAAACACG 0.512000 25 112 0 0 0.006320 0 0 CACNA1B 774 broad.mit.edu 37 9 141010047 141010047 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:141010047A>G ENST00000277549.5 + 42 5844 c.3275A>G c.(3274-3276)gAg>gGg p.E1092G CACNA1B_ENST00000371372.1_Missense_Mutation_p.E1898G|CACNA1B_ENST00000371357.1_Missense_Mutation_p.E1897G|CACNA1B_ENST00000277551.2_Missense_Mutation_p.E1898G|CACNA1B_ENST00000371363.1_Missense_Mutation_p.E1896G|CACNA1B_ENST00000371355.4_Missense_Mutation_p.E1899G Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1898 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GCCACCCTGGAGCAGACACAG 0.597000 12 110 0 0 0.002450 0 0 TTN 7273 broad.mit.edu 37 2 179428325 179428325 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179428325C>T ENST00000589042.1 - 326 82758 c.82534G>A c.(82534-82536)Gaa>Aaa p.E27512K TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E18447K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18572K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24944K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18639K|TTN_ENST00000591111.1_Missense_Mutation_p.E25871K|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25871 Fibronectin type-III 100. 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) CTAACGCCTTCCTTATCTCGT 0.468000 37 80 0 0 0.003755 0 0 PTCD1 26024 broad.mit.edu 37 7 99022765 99022765 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:99022765G>A ENST00000292478.4 - 6 1640 c.1390C>T c.(1390-1392)Cgg>Tgg p.R464W ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.R513W|PTCD1_ENST00000555673.1_Missense_Mutation_p.R513W NM_015545.3 NP_056360.2 pentatricopeptide repeat domain 1 endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1) 27 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) AAGGCCAGCCGGTCAGCTGGG 0.652000 11 31 0 0 0.010729 0 0 PARD3B 117583 broad.mit.edu 37 2 206165305 206165305 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:206165305C>T ENST00000406610.2 + 17 2444 c.2237C>T c.(2236-2238)tCc>tTc p.S746F PARD3B_ENST00000349953.3_Missense_Mutation_p.S746F|PARD3B_ENST00000462231.1_Missense_Mutation_p.S746F|PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000358768.2_Missense_Mutation_p.S684F NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 746 cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) AAGTCCAGCTCCTTGGAGAGT 0.537000 21 76 0 0 0.010504 0 0 AXL 558 broad.mit.edu 37 19 41743986 41743986 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:41743986C>T ENST00000301178.4 + 7 1111 c.921C>T c.(919-921)atC>atT p.I307I AXL_ENST00000359092.3_Silent_p.I307I|AXL_ENST00000593513.1_Silent_p.I39I NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 307 Fibronectin type-III 1. 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 CTTATCACATCCGCGTGGCAT 0.652000 49 88 0 0 0.014410 0 0 ITGA4 3676 broad.mit.edu 37 2 182390014 182390014 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:182390014C>T ENST00000397033.2 + 21 2765 c.2335C>T c.(2335-2337)Cat>Tat p.H779Y NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 779 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) GCTGACTGTTCATGGGTAAGT 0.323000 5 16 0 0 0.000602 0 0 LILRP2 79166 broad.mit.edu 37 19 55221680 55221680 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:55221680G>A ENST00000413439.1 + 0 1415 GCTCCGCACAGGCCCTGCTGG 0.672000 6 12 0 0 0.001168 0 0 HRASLS2 54979 broad.mit.edu 37 11 63326003 63326003 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:63326003C>T ENST00000255695.1 - 3 306 c.248G>A c.(247-249)aGa>aAa p.R83K NM_017878.1 NP_060348.1 Q9NWW9 HRSL2_HUMAN HRAS-like suppressor 2 83 lipid catabolic process cytoplasm acyltransferase activity|hydrolase activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 6 TGGTGTGTATCTGTCATCGTG 0.532000 20 67 0 0 0.014323 0 0 LY9 4063 broad.mit.edu 37 1 160793421 160793421 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:160793421C>T ENST00000263285.5 + 8 1695 c.1665C>T c.(1663-1665)ccC>ccT p.P555P LY9_ENST00000341032.4_Silent_p.P421P|LY9_ENST00000368035.1_Silent_p.P193P|LY9_ENST00000368041.2_Silent_p.P425P|LY9_ENST00000368040.1_Silent_p.P193P NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 555 cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TGCACAAGCCCATCAGTGGAA 0.577000 36 67 0 0 0.003755 0 0 PACSIN1 29993 broad.mit.edu 37 6 34496573 34496573 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:34496573C>T ENST00000538621.1 + 4 620 c.375C>T c.(373-375)atC>atT p.I125I PACSIN1_ENST00000374043.2_Silent_p.I83I|PACSIN1_ENST00000486120.1_3'UTR|PACSIN1_ENST00000244458.2_Silent_p.I125I NM_001199583.1 NP_001186512.1 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in neurons 1 125 endocytosis protein kinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 13 ACAAGCAGATCATGGGTGGCT 0.557000 25 65 0 0 0.009535 0 0 SULF2 55959 broad.mit.edu 37 20 46365604 46365604 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:46365604G>A ENST00000359930.4 - 3 1109 c.258C>T c.(256-258)ccC>ccT p.P86P SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000467815.1_Silent_p.P86P|SULF2_ENST00000361612.4_Silent_p.P86P|SULF2_ENST00000484875.1_Silent_p.P86P NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 86 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 GGCAGCACATGGGTGTGGTCA 0.592000 5 41 0 0 0.000602 0 0 TAP1 6890 broad.mit.edu 37 6 32815321 32815321 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:32815321G>A ENST00000354258.4 - 9 2213 c.2052C>T c.(2050-2052)ttC>ttT p.F684F PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Silent_p.F423F NM_000593.5 NP_000584.2 Q03518 TAP1_HUMAN transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 684 ABC transporter. antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity cytosol|plasma membrane|TAP complex ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1) 21 GTCCAGAGATGAAACTATGGG 0.488000 9 67 0 0 0.006214 0 0 EIF2B4 8890 broad.mit.edu 37 2 27591996 27591996 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:27591996C>T ENST00000493344.2 - 3 670 c.358G>A c.(358-360)Gaa>Aaa p.E120K EIF2B4_ENST00000451130.2_Missense_Mutation_p.E119K|EIF2B4_ENST00000347454.4_Missense_Mutation_p.E99K|EIF2B4_ENST00000445933.2_Missense_Mutation_p.E98K Q9UI10 EI2BD_HUMAN eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa 99 myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex translation initiation factor activity|translation initiation factor binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCCGAAGTTCGGCCTTACTC 0.572000 36 51 0 0 0.006230 0 0 DAB2IP 153090 broad.mit.edu 37 9 124535061 124535061 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:124535061C>T ENST00000408936.3 + 12 2436 c.2254C>T c.(2254-2256)Cag>Tag p.Q752* DAB2IP_ENST00000259371.2_Nonsense_Mutation_p.Q724*|DAB2IP_ENST00000309989.1_Nonsense_Mutation_p.Q628* Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 752 activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 GGTGGACCTCCAGGACGCCCG 0.692000 8 14 0 0 0.003080 0 0 LEMD1 93273 broad.mit.edu 37 1 205389633 205389633 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:205389633T>A ENST00000367153.4 - 2 134 c.32A>T c.(31-33)aAa>aTa p.K11I LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000391936.2_Missense_Mutation_p.K11I|LEMD1_ENST00000367154.1_Missense_Mutation_p.K11I|LEMD1_ENST00000367151.2_Missense_Mutation_p.K11I|LEMD1_ENST00000367149.3_Missense_Mutation_p.K11I|LEMD1_ENST00000367152.1_Missense_Mutation_p.K11I NM_001199050.1 NP_001185979.1 Q68G75 LEMD1_HUMAN LEM domain containing 1 11 LEM. integral to membrane|nuclear envelope breast(1)|lung(2) 3 Breast(84;0.247) BRCA - Breast invasive adenocarcinoma(75;0.0938) GTTCTGCAATTTACAGTCACT 0.358000 25 36 0 0 0.004656 0 0 SPAM1 6677 broad.mit.edu 37 7 123594435 123594435 + Missense_Mutation SNP C C T rs141109529 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:123594435C>T ENST00000340011.5 + 3 1168 c.811C>T c.(811-813)Cct>Tct p.P271S SPAM1_ENST00000223028.7_Missense_Mutation_p.P271S|SPAM1_ENST00000460182.1_Missense_Mutation_p.P271S|SPAM1_ENST00000402183.2_Missense_Mutation_p.P271S|SPAM1_ENST00000439500.1_Missense_Mutation_p.P271S NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 271 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) TCAGCAGTCTCCTGTAGCTGC 0.413000 23 47 0 0 0.004656 0 0 ARID5A 10865 broad.mit.edu 37 2 97216893 97216893 + Nonsense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:97216893G>T ENST00000454558.2 + 7 1601 c.424G>T c.(424-426)Gag>Tag p.E142* ARID5A_ENST00000357485.3_Nonsense_Mutation_p.E210* Q03989 ARI5A_HUMAN AT rich interactive domain 5A (MRF1-like) 210 ARID. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 TCCCAGCCAGGAGCCCCCCAG 0.602000 9 66 0.00621372 0.00671005 0.006214 1 0 PYGO2 90780 broad.mit.edu 37 1 154931774 154931774 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:154931774G>A ENST00000368457.2 - 3 873 c.702C>T c.(700-702)ctC>ctT p.L234L PYGO2_ENST00000368456.1_Silent_p.L197L NM_138300.3 NP_612157.1 Q9BRQ0 PYGO2_HUMAN pygopus family PHD finger 2 234 Pro-rich. Wnt receptor signaling pathway nucleus protein binding|zinc ion binding endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1) 10 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) GCAGGCTGGGGAGCCCCTGAC 0.627000 13 31 0 0 0.002450 0 0 NEK10 152110 broad.mit.edu 37 3 27216271 27216271 + Silent SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:27216271C>A ENST00000429845.2 - 28 2921 c.2559G>T c.(2557-2559)ctG>ctT p.L853L NEK10_ENST00000383770.3_Silent_p.L165L|NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000357467.2_Silent_p.L250L|NEK10_ENST00000295720.6_Silent_p.L165L|NEK10_ENST00000383771.4_Silent_p.L165L Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 853 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 GTTCACTTTTCAGGCTGGCTG 0.498000 50 114 8.44121e-28 9.277e-28 0.014410 1 0 IL1RAP 3556 broad.mit.edu 37 3 190366453 190366453 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:190366453G>A ENST00000412504.2 + 11 1924 c.1672G>A c.(1672-1674)Gat>Aat p.D558N IL1RAP_ENST00000072516.3_Missense_Mutation_p.D558N|IL1RAP_ENST00000317757.3_Intron|IL1RAP_ENST00000447382.1_Missense_Mutation_p.D558N|IL1RAP_ENST00000443369.2_Intron|IL1RAP_ENST00000439062.1_Missense_Mutation_p.D558N Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein 558 inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) GTCTAGCAGTGATGAGCAGGG 0.478000 4 32 0 0 0.009096 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101755635 101755635 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:101755635C>T ENST00000506729.1 - 8 1538 c.1367G>A c.(1366-1368)aGa>aAa p.R456K SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R394K|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R456K|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000513675.1_Intron Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 456 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) CATTATAAATCTCATAAGGGC 0.358000 13 66 0 0 0.013537 0 0 SIRPG 55423 broad.mit.edu 37 20 1630007 1630007 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:1630007G>A ENST00000381580.1 - 2 201 c.22C>T c.(22-24)Ctg>Ttg p.L8L SIRPG_ENST00000344103.4_Silent_p.L41L|SIRPG_ENST00000216927.4_Silent_p.L41L|SIRPG_ENST00000303415.3_Silent_p.L41L|SIRPG_ENST00000381583.2_Silent_p.L41L Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 41 blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 GTGACCAACAGGAGCTTCTCA 0.512000 13 40 0 0 0.013537 0 0 KLHL32 114792 broad.mit.edu 37 6 97562297 97562297 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:97562297G>A ENST00000369261.4 + 7 1629 c.1266G>A c.(1264-1266)aaG>aaA p.K422K KLHL32_ENST00000536676.1_Silent_p.K386K|KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000539200.1_Silent_p.K353K NM_052904.3 NP_443136.2 Q96NJ5 KLH32_HUMAN kelch-like family member 32 422 breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) ATTGCCCCAAGAAGAACAAAT 0.473000 11 48 0 0 0.010729 0 0 PSG2 5670 broad.mit.edu 37 19 43576076 43576076 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:43576076G>A ENST00000406487.1 - 4 838 c.740C>T c.(739-741)tCa>tTa p.S247L NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 247 Ig-like C2-type 2. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) ATTGGTGTATGAAGGGTGAAT 0.483000 18 115 0 0 0.008871 0 0 GBP1 2633 broad.mit.edu 37 1 89520430 89520430 + Missense_Mutation SNP T T G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:89520430T>G ENST00000370473.4 - 10 1819 c.1600A>C c.(1600-1602)Aag>Cag p.K534Q GBP1_ENST00000484970.1_5'UTR NM_002053.2 NP_002044.2 P32455 GBP1_HUMAN guanylate binding protein 1, interferon-inducible 534 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 30 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) TTCTCCATCTTCTCAGTCAGT 0.433000 155 254 0 0 0.014410 0 0 SGSM1 129049 broad.mit.edu 37 22 25270515 25270515 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:25270515C>T ENST00000400359.4 + 13 1432 c.1425C>T c.(1423-1425)ctC>ctT p.L475L SGSM1_ENST00000400358.4_Intron NM_001039948.2|NM_133454.2 NP_001035037.1|NP_597711.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 475 Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 ACACTACTCTCCCCACGCCAA 0.637000 6 10 0 0 0.001168 0 0 LILRB2 10288 broad.mit.edu 37 19 54783313 54783313 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:54783313G>A ENST00000391748.1 - 5 672 c.545C>T c.(544-546)tCc>tTc p.S182F LILRB2_ENST00000314446.5_Missense_Mutation_p.S182F|LILRB2_ENST00000391746.1_Missense_Mutation_p.S182F|LILRB2_ENST00000391749.4_Missense_Mutation_p.S182F|LILRB2_ENST00000434421.1_Missense_Mutation_p.S66F NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 182 Ig-like C2-type 2. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGCCCACGGAGAAGATGGC 0.577000 25 42 0 0 0.005443 0 0 TLL1 7092 broad.mit.edu 37 4 166946575 166946575 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:166946575G>A ENST00000061240.2 + 9 1797 c.1150G>A c.(1150-1152)Ggg>Agg p.G384R TLL1_ENST00000507499.1_Missense_Mutation_p.G384R|TLL1_ENST00000513213.1_Missense_Mutation_p.G384R NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 384 CUB 1. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TGTGACCCCAGGGGAGAAGGT 0.388000 27 20 0 0 0.006320 0 0 TMEM163 81615 broad.mit.edu 37 2 135260567 135260567 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:135260567C>T ENST00000281924.6 - 5 524 c.458_splice c.e5-1 p.A154_splice NM_030923.4 NP_112185.1 Q8TC26 TM163_HUMAN transmembrane protein 163 154 integral to membrane endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(221;0.154) ATGACACAGGCTCTGCAAAAA 0.443000 7 8 0 0 0.001984 0 0 ZRANB3 84083 broad.mit.edu 37 2 136023176 136023176 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:136023176G>A ENST00000401392.1 - 12 1679 c.1467C>T c.(1465-1467)ttC>ttT p.F489F ZRANB3_ENST00000536680.1_Silent_p.F489F|ZRANB3_ENST00000264159.6_Silent_p.F489F Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 489 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) CAAACTGCAGGAAATCCCATT 0.403000 10 10 0 0 0.008291 0 0 ROS1 6098 broad.mit.edu 37 6 117708143 117708143 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:117708143G>A ENST00000368508.3 - 14 2232 c.2034C>T c.(2032-2034)atC>atT p.I678I GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.I673I NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 678 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TCACAGCCATGATAAATGGTG 0.363000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 6 57 0 0 0.001168 0 0 MAGEB6 158809 broad.mit.edu 37 X 26213001 26213001 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:26213001G>A ENST00000379034.1 + 2 1187 c.1038G>A c.(1036-1038)caG>caA p.Q346Q NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 346 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 TTTACCGGCAGGTGTGCAACA 0.493000 42 17 0 0 0.014410 0 0 ASAP2 8853 broad.mit.edu 37 2 9517083 9517083 + Missense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:9517083G>T ENST00000281419.3 + 18 2133 c.1793G>T c.(1792-1794)cGa>cTa p.R598L ASAP2_ENST00000315273.4_Missense_Mutation_p.R598L NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 598 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 TCCGTGGATCGAACCTCTCTT 0.448000 18 124 2.44723e-14 2.68219e-14 0.004656 1 0 CYP4F22 126410 broad.mit.edu 37 19 15654785 15654785 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:15654785G>A ENST00000269703.2 + 9 1142 c.943G>A c.(943-945)Gaa>Aaa p.E315K CYP4F22_ENST00000601005.2_Missense_Mutation_p.E315K NM_173483.3 NP_775754.2 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 22 315 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 ATTCCAGGATGAAGATGGAAA 0.562000 14 28 0 0 0.004007 0 0 RSPRY1 89970 broad.mit.edu 37 16 57254647 57254647 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:57254647T>C ENST00000537866.1 + 9 1778 c.905T>C c.(904-906)tTa>tCa p.L302S RSPRY1_ENST00000394420.4_Missense_Mutation_p.L302S Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 302 B30.2/SPRY. extracellular region zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3) 27 TTTGCAGTTTTAAAAGAAGGT 0.428000 7 26 0 0 0.001984 0 0 CHRD 8646 broad.mit.edu 37 3 184106376 184106376 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:184106376G>A ENST00000204604.1 + 21 2802 c.2554_splice c.e21-1 p.V852_splice EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Splice_Site_p.V812_splice|CHRD_ENST00000450923.1_Splice_Site_p.V852_splice|CHRD_ENST00000545352.1_Splice_Site_p.V394_splice NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 852 BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCTCAACAGTGGGGTCGGGGG 0.587000 32 97 0 0 0.009718 0 0 COL21A1 81578 broad.mit.edu 37 6 56035641 56035641 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:56035641G>A ENST00000244728.5 - 5 1229 c.832C>T c.(832-834)Cct>Tct p.P278S COL21A1_ENST00000370819.1_Missense_Mutation_p.P278S|COL21A1_ENST00000535941.1_Missense_Mutation_p.P278S NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 278 TSP N-terminal. 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) TATGATGGAGGAAGACCTTCT 0.358000 6 24 0 0 0.001168 0 0 NEB 4703 broad.mit.edu 37 2 152553214 152553214 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:152553214G>A ENST00000397345.3 - 17 1708 c.1506C>T c.(1504-1506)ttC>ttT p.F502F NEB_ENST00000172853.10_Silent_p.F502F|NEB_ENST00000603639.1_Silent_p.F502F|NEB_ENST00000427231.2_Silent_p.F502F|NEB_ENST00000604864.1_Silent_p.F502F|NEB_ENST00000409198.1_Silent_p.F502F NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 502 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TAACTTGGGTGAATTTTGTCT 0.458000 5 36 0 0 0.000602 0 0 HUNK 30811 broad.mit.edu 37 21 33371477 33371477 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr21:33371477G>A ENST00000270112.2 + 11 2485 c.2125G>A c.(2125-2127)Ggg>Agg p.G709R NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase 709 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 CATGGCCGATGGGGTCAAGAC 0.587000 17 28 0 0 0.007413 0 0 TRIM71 131405 broad.mit.edu 37 3 32927435 32927435 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:32927435G>A ENST00000383763.4 + 3 1093 c.1030G>A c.(1030-1032)Gag>Aag p.E344K NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 344 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GCTGAGCATCGAGCAGGCCCA 0.498000 29 33 0 0 0.003755 0 0 CEL 1056 broad.mit.edu 37 9 135946024 135946024 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:135946024G>A ENST00000372080.4 + 10 1488 c.1472G>A c.(1471-1473)tGg>tAg p.W491* CEL_ENST00000351304.7_Intron NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 488 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) ATCGCCTACTGGACCAACTTT 0.592000 144 220 0 0 0.014410 0 0 SLC44A5 204962 broad.mit.edu 37 1 75688085 75688085 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:75688085C>T ENST00000370855.5 - 14 1159 c.1046G>A c.(1045-1047)cGa>cAa p.R349Q SLC44A5_ENST00000535611.1_Missense_Mutation_p.R219Q|SLC44A5_ENST00000370859.3_Missense_Mutation_p.R349Q NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 349 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 GACTCGGATTCGATTCCTGAG 0.393000 15 40 0 0 0.004007 0 0 PEAR1 375033 broad.mit.edu 37 1 156878059 156878059 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:156878059C>T ENST00000338302.3 + 10 1267 c.1042C>T c.(1042-1044)Cgc>Tgc p.R348C PEAR1_ENST00000292357.7_Missense_Mutation_p.R348C Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 348 integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTGCACGGATCGCCTCTGCCC 0.692000 10 6 0 0 0.008291 0 0 KALRN 8997 broad.mit.edu 37 3 124181432 124181432 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:124181432A>T ENST00000360013.3 + 25 4104 c.3977A>T c.(3976-3978)gAg>gTg p.E1326V KALRN_ENST00000460856.1_Missense_Mutation_p.E1317V|KALRN_ENST00000240874.3_Missense_Mutation_p.E1326V NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1326 DH 1. E -> D (in dbSNP:rs2289838). 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 CTCAATAAAGAGCATATCATC 0.478000 10 23 0 0 0.010729 0 0 NLRP9 338321 broad.mit.edu 37 19 56223927 56223927 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:56223927G>A ENST00000332836.2 - 7 2558 c.2531C>T c.(2530-2532)tCc>tTc p.S844F NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 844 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) GTCCTTACAGGAATCGGAAGT 0.428000 7 39 0 0 0.008291 0 0 MICAL1 64780 broad.mit.edu 37 6 109769147 109769147 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:109769147G>A ENST00000368952.4 - 14 2222 c.1932C>T c.(1930-1932)tcC>tcT p.S644S MICAL1_ENST00000358807.3_Silent_p.S625S|MICAL1_ENST00000358577.3_Silent_p.S539S Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 625 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) AGGTCCCTGGGGAGGCCTGGC 0.592000 10 38 0 0 0.010729 0 0 FAM46D 169966 broad.mit.edu 37 X 79698902 79698902 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:79698902C>T ENST00000538312.1 + 5 1198 c.864C>T c.(862-864)ttC>ttT p.F288F FAM46D_ENST00000308293.5_Silent_p.F288F NM_001170574.1 NP_001164045.1 Q8NEK8 FA46D_HUMAN family with sequence similarity 46, member D 288 kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 ACAACCATTTCATAGGTGAAG 0.358000 26 10 0 0 0.003954 0 0 GPRC6A 222545 broad.mit.edu 37 6 117113328 117113328 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:117113328G>A ENST00000310357.3 - 6 2779 c.2758C>T c.(2758-2760)Cga>Tga p.R920* GPRC6A_ENST00000368549.3_Nonsense_Mutation_p.R849*|GPRC6A_ENST00000530250.1_Nonsense_Mutation_p.R745* NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 920 response to amino acid stimulus G-protein coupled receptor activity 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) ATTCTTTTTCGAGGCAAAGTT 0.388000 27 109 0 0 0.009535 0 0 TRANK1 9881 broad.mit.edu 37 3 36880169 36880169 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:36880169C>T ENST00000429976.2 - 18 5434 c.5187G>A c.(5185-5187)gaG>gaA p.E1729E TRANK1_ENST00000428977.2_Silent_p.E1179E|TRANK1_ENST00000301807.6_Silent_p.E1179E O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1729 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 ACTTCTCCTTCTCAAATGCAC 0.483000 7 19 0 0 0.006214 0 0 ZMYND8 23613 broad.mit.edu 37 20 45927583 45927583 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:45927583G>A ENST00000311275.7 - 4 536 c.283C>T c.(283-285)Cac>Tac p.H95Y ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000536340.1_Missense_Mutation_p.H122Y|ZMYND8_ENST00000396281.4_Missense_Mutation_p.H95Y|ZMYND8_ENST00000461685.1_Missense_Mutation_p.H115Y|ZMYND8_ENST00000360911.3_Missense_Mutation_p.H90Y|ZMYND8_ENST00000355972.4_Missense_Mutation_p.H95Y|ZMYND8_ENST00000352431.2_Missense_Mutation_p.H115Y|ZMYND8_ENST00000262975.4_Missense_Mutation_p.H95Y|ZMYND8_ENST00000372023.3_Missense_Mutation_p.H90Y|ZMYND8_ENST00000458360.2_Missense_Mutation_p.H90Y|ZMYND8_ENST00000446994.2_Missense_Mutation_p.H70Y|ZMYND8_ENST00000471951.2_Missense_Mutation_p.H115Y|ZMYND8_ENST00000540497.1_Missense_Mutation_p.H90Y Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 95 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) CCTTCCCGGTGACAAACCCAG 0.517000 16 49 0 0 0.004990 0 0 HNF4A 3172 broad.mit.edu 37 20 43030112 43030112 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:43030112T>A ENST00000316099.3 + 1 189 c.100T>A c.(100-102)Ttg>Atg p.L34M HNF4A_ENST00000443598.2_Missense_Mutation_p.L34M|HNF4A_ENST00000457232.1_Intron|HNF4A_ENST00000415691.1_Missense_Mutation_p.L34M NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 34 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) TGTGCAGGTGTTGACGATGGG 0.577000 42 184 0 0 0.014410 0 0 TYR 7299 broad.mit.edu 37 11 88961003 88961003 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:88961003C>T ENST00000263321.5 + 3 1551 c.1049C>T c.(1048-1050)cCa>cTa p.P350L NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 350 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) TTTGCTAGTCCACTTACTGGG 0.363000 11 24 0 0 0.001855 0 0 SYT4 6860 broad.mit.edu 37 18 40853803 40853803 + Silent SNP C C T rs150432952 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:40853803C>T ENST00000255224.3 - 2 959 c.591G>A c.(589-591)acG>acA p.T197T SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.T179T NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 197 C2 1.|Phospholipid binding (Probable). cell junction|integral to membrane|synaptic vesicle membrane transporter activity p.T197T(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 CTGGGAGGATCGTCATTTTGA 0.443000 7 55 0 0 0.001984 0 0 ARFGAP1 55738 broad.mit.edu 37 20 61908621 61908621 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:61908621C>T ENST00000370275.4 + 5 499 c.407C>T c.(406-408)cCa>cTa p.P136L ARFGAP1_ENST00000353546.3_Missense_Mutation_p.P136L|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.P62L|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.P83L|ARFGAP1_ENST00000370283.4_Missense_Mutation_p.P136L|ARFGAP1_ENST00000519273.2_Intron Q8N6T3 ARFG1_HUMAN ADP-ribosylation factor GTPase activating protein 1 136 COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER cytosol|Golgi-associated vesicle membrane ARF GTPase activator activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1) 13 all_cancers(38;1.59e-09) AACTGGACCCCACCTCAGCCC 0.582000 6 26 0 0 0.001168 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530066 140530066 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140530066T>C ENST00000231136.1 + 1 228 c.228T>C c.(226-228)ttT>ttC p.F76F PCDHB6_ENST00000543635.1_Intron NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 76 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATTTGCAGTTTGATCCACAGA 0.532000 22 61 0 0 0.010504 0 0 HID1 283987 broad.mit.edu 37 17 72954523 72954523 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:72954523C>T ENST00000425042.2 - 11 1368 c.1291G>A c.(1291-1293)Ggg>Agg p.G431R NM_030630.2 NP_085133.1 HID1 domain containing TTCCGCTCCCCGCTCAGAAGC 0.632000 OREG0024721 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 6 0 0 0.004672 0 0 INTS4 92105 broad.mit.edu 37 11 77594888 77594888 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:77594888G>A ENST00000534064.1 - 22 2737 c.2703C>T c.(2701-2703)acC>acT p.T901T AAMDC_ENST00000304716.8_Intron|AAMDC_ENST00000532481.1_Intron|AAMDC_ENST00000527134.1_Intron|INTS4_ENST00000535943.1_Silent_p.T276T NM_033547.3 NP_291025.3 Q96HW7 INT4_HUMAN integrator complex subunit 4 901 HT -> PP (in Ref. 1; AAQ13616). snRNA processing integrator complex protein binding INTS4/GAB2(2) NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1) 32 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) CTGTCCAAGCGGTGTGGGAGA 0.527000 8 8 0 0 0.004482 0 0 CFAP221 200373 broad.mit.edu 37 2 120373202 120373202 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:120373202C>T ENST00000602047.1 + 15 1581 c.469C>T c.(469-471)Cat>Tat p.H157Y PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000413369.3_Missense_Mutation_p.H443Y Q4G0U5 PCDP1_HUMAN 443 cilium calmodulin binding Colorectal(110;0.196) CAAGGAATTTCATCCTACTTT 0.348000 5 10 0 0 0.000602 0 0 SMR3A 26952 broad.mit.edu 37 4 71232443 71232443 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:71232443G>A ENST00000226460.4 + 3 233 c.137G>A c.(136-138)gGa>gAa p.G46E NM_012390.3 NP_036522.3 Q99954 SMR3A_HUMAN submaxillary gland androgen regulated protein 3A 46 Pro-rich. extracellular region endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4) 15 all_hematologic(202;0.196) TTTCCTTTTGGAACAGGATTT 0.552000 15 22 0 0 0.006122 0 0 GLB1L2 89944 broad.mit.edu 37 11 134240215 134240215 + Silent SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:134240215T>A ENST00000535456.2 + 12 1325 c.1137T>A c.(1135-1137)ctT>ctA p.L379L GLB1L2_ENST00000389881.3_Silent_p.L379L|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Silent_p.L379L NM_138342.3 NP_612351.2 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 379 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) CACCTGACCTTCTTCCCAAGA 0.602000 5 86 0 0 0.004482 0 0 DMWD 1762 broad.mit.edu 37 19 46288921 46288921 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:46288921G>A ENST00000593999.1 - 1 310 c.311C>T c.(310-312)tCc>tTc p.S104F DMWD_ENST00000270223.6_Silent_p.F611F|DMWD_ENST00000377735.3_Silent_p.F611F AGTCCTCCAGGAACAGGAGGA 0.687000 11 14 0 0 0.001855 0 0 NKAP 79576 broad.mit.edu 37 X 119068457 119068457 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:119068457G>A ENST00000371410.3 - 5 903 c.737_splice c.e5+1 p.S246_splice NKAP_ENST00000477789.1_5'UTR NM_024528.3 NP_078804.2 Q8N5F7 NKAP_HUMAN NFKB activating protein 246 Lys-rich.|Necessary for interaction with CIR1. negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1) 20 AAAAACTGACGATCTGTGTTT 0.289000 15 4 0 0 0.002450 0 0 SH2D3C 10044 broad.mit.edu 37 9 130502567 130502567 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:130502567G>A ENST00000314830.8 - 10 2283 c.2170C>T c.(2170-2172)Cct>Tct p.P724S SH2D3C_ENST00000373277.4_Missense_Mutation_p.P567S|SH2D3C_ENST00000373276.3_Missense_Mutation_p.P656S|SH2D3C_ENST00000420366.1_Missense_Mutation_p.P566S|SH2D3C_ENST00000429553.1_Missense_Mutation_p.P370S|SH2D3C_ENST00000373274.3_Missense_Mutation_p.P564S NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 724 Ras-GEF. JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TTGAGAAAAGGCTTGAGCTTC 0.577000 7 47 0 0 0.003080 0 0 VPS45 11311 broad.mit.edu 37 1 150116887 150116887 + Splice_Site SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:150116887T>C ENST00000369130.3 + 15 2172 c.1625_splice c.e15-1 p.S542_splice VPS45_ENST00000535106.1_3'UTR|VPS45_ENST00000484306.1_3'UTR|VPS45_ENST00000369128.5_Splice_Site_p.F469_splice NM_007259.3 NP_009190.2 Q9NRW7 VPS45_HUMAN vacuolar protein sorting 45 homolog (S. cerevisiae) 542 blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis endosome membrane|Golgi membrane|integral to membrane of membrane fraction breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) TACTTATCAGTTTCCTAGAGG 0.428000 16 39 0 0 0.004007 0 0 OR4X2 119764 broad.mit.edu 37 11 48267543 48267543 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:48267543G>A ENST00000302329.3 + 1 936 c.888G>A c.(886-888)agG>agA p.R296R NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 TGTGGATTAGGACATTGAGAC 0.433000 16 49 0 0 0.007413 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76075183 76075183 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:76075183C>T ENST00000395215.3 + 0 823 CCCCGGCACCCCCAGCAGTGA 0.557000 10 7 0 0 0.006214 0 0 IL1B 3553 broad.mit.edu 37 2 113588928 113588928 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:113588928C>T ENST00000263341.2 - 6 748 c.538G>A c.(538-540)Gaa>Aaa p.E180K IL1B_ENST00000491056.1_5'UTR NM_000576.2 NP_000567.1 P01584 IL1B_HUMAN interleukin 1, beta 180 activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation cytosol|extracellular space cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding p.E180K(1) breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8) 12 Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366) AGATTCTTTTCCTTGAGGCCC 0.468000 41 78 0 0 0.011902 0 0 MAGEC3 139081 broad.mit.edu 37 X 140984593 140984593 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:140984593C>T ENST00000544766.1 + 5 682 c.155C>T c.(154-156)cCc>cTc p.P52L MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000536088.1_Missense_Mutation_p.P52L|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000409007.1_Missense_Mutation_p.P52L|MAGEC3_ENST00000443323.2_Intron NM_177456.2 NP_803251.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 446 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) tttttattcccctcctcctct 0.522000 10 2 0 0 0.006214 0 0 ADRA1B 147 broad.mit.edu 37 5 159344660 159344660 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:159344660G>A ENST00000306675.3 + 1 871 c.748G>A c.(748-750)Gag>Aag p.E250K NM_000679.3 NP_000670.1 P35368 ADA1B_HUMAN adrenoceptor alpha 1B 250 cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade integral to plasma membrane alpha1-adrenergic receptor activity endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656) CAACTCCAAGGAGCTGACCCT 0.517000 8 38 0 0 0.004482 0 0 GTF2IRD2 84163 broad.mit.edu 37 7 74211373 74211373 + Silent SNP G G A rs146532025 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:74211373G>A ENST00000405086.2 - 16 2667 c.2478C>T c.(2476-2478)atC>atT p.I826I GTF2IRD2_ENST00000451013.2_Silent_p.I373I NM_173537.2 NP_775808.2 Q86UP8 GTD2A_HUMAN GTF2I repeat domain containing 2 826 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1) 11 tgagttccgcgattttgggaa 0.478000 21 118 0 0 0.003330 0 0 NSD1 64324 broad.mit.edu 37 5 176638012 176638012 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:176638012C>T ENST00000439151.2 + 5 2657 c.2612C>T c.(2611-2613)tCc>tTc p.S871F NSD1_ENST00000361032.4_Missense_Mutation_p.S768F|NSD1_ENST00000354179.4_Missense_Mutation_p.S602F|NSD1_ENST00000347982.4_Missense_Mutation_p.S602F NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 871 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) 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)|Epithelial(233;0.198) Kidney(146;0.235) TCTTACAGATCCTTAGGTGAG 0.403000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 17 37 0 0 0.004990 0 0 OR14C36 127066 broad.mit.edu 37 1 248512081 248512081 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:248512081C>T ENST00000317861.1 + 1 5 c.5C>T c.(4-6)cCc>cTc p.P2L NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 CCACCGATGCCCAATTCAACC 0.403000 9 37 0 0 0.008291 0 0 IL1RL1 9173 broad.mit.edu 37 2 102968097 102968097 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:102968097G>A ENST00000233954.1 + 11 1658 c.1387G>A c.(1387-1389)Gag>Aag p.E463K NM_016232.4 NP_057316.3 Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 463 TIR. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity p.E463*(1) NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 CTACGAGCAGGAGGTTGCCCT 0.537000 9 31 0 0 0.006214 0 0 LIG1 3978 broad.mit.edu 37 19 48653380 48653380 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:48653380G>A ENST00000263274.7 - 8 1081 c.662C>T c.(661-663)cCc>cTc p.P221L LIG1_ENST00000427526.2_Missense_Mutation_p.P190L|LIG1_ENST00000536218.1_Missense_Mutation_p.P153L|LIG1_ENST00000599165.1_5'UTR NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 221 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) AGCTCTGCGGGGAGGCTTGGT 0.612000 Nucleotide excision repair (NER) 12 45 0 0 0.010729 0 0 MANEA 79694 broad.mit.edu 37 6 96034425 96034425 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:96034425G>A ENST00000358812.4 + 2 244 c.110G>A c.(109-111)gGa>gAa p.G37E MANEA_ENST00000369293.1_Missense_Mutation_p.G37E NM_024641.3 NP_078917.2 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 37 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) GCTACTTTTGGAGCTCCTTTT 0.358000 23 35 0 0 0.003330 0 0 PSD2 84249 broad.mit.edu 37 5 139193879 139193879 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:139193879C>T ENST00000274710.3 + 4 1151 c.946C>T c.(946-948)Cgg>Tgg p.R316W NM_032289.2 NP_115665.1 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 316 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCTGCTCATCGGCTGGCACG 0.647000 7 15 0 0 0.003080 0 0 TTBK1 84630 broad.mit.edu 37 6 43251647 43251647 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:43251647C>T ENST00000259750.4 + 14 3252 c.3169C>T c.(3169-3171)Cct>Tct p.P1057S NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 1057 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) GAGCCGTATCCCTGTCCTGCT 0.687000 15 23 0 0 0.004990 0 0 IVNS1ABP 10625 broad.mit.edu 37 1 185276156 185276156 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:185276156A>G ENST00000367498.3 - 7 1269 c.647T>C c.(646-648)cTg>cCg p.L216P IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR NM_006469.4 NP_006460.2 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 216 BACK.|Sufficient for AHR interaction and signaling. interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2) 29 CTCTTCCATCAGCTCTTCCAG 0.358000 14 29 0 0 0.001855 0 0 LRFN2 57497 broad.mit.edu 37 6 40359880 40359880 + Silent SNP G G A rs144850104 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:40359880G>A ENST00000338305.6 - 3 2714 c.2172C>T c.(2170-2172)ttC>ttT p.F724F NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 724 cell junction|integral to membrane|postsynaptic membrane p.F724F(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) CCCCCATGTCGAAGGAGTGGC 0.692000 7 15 0 0 0.003080 0 0 C2orf78 388960 broad.mit.edu 37 2 74043271 74043271 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:74043271G>A ENST00000409561.1 + 3 2042 c.1921G>A c.(1921-1923)Ggg>Agg p.G641R NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 641 p.G641W(1)|p.G611W(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 CCATGCACTCGGGAAAAAGAT 0.493000 24 38 0 0 0.003954 0 0 ZNF300 91975 broad.mit.edu 37 5 150275445 150275445 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:150275445G>A ENST00000446148.2 - 7 1831 c.1404C>T c.(1402-1404)ctC>ctT p.L468L ZNF300_ENST00000274599.5_Silent_p.L452L|ZNF300_ENST00000394226.2_Silent_p.L452L|ZNF300_ENST00000418587.2_Silent_p.L416L|ZNF300_ENST00000427179.1_3'UTR NM_001172831.1 NP_001166302.1 Q96RE9 ZN300_HUMAN zinc finger protein 300 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GATGTGTAATGAGTTCTGTCT 0.413000 5 23 0 0 0.000602 0 0 OR8U1 219417 broad.mit.edu 37 11 56143728 56143728 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:56143728C>T ENST00000302270.1 + 1 629 c.629C>T c.(628-630)tCc>tTc p.S210F NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) TTCATTTCCTCCCTTCTGATT 0.473000 7 69 0 0 0.001984 0 0 STON1 11037 broad.mit.edu 37 2 48818932 48818932 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:48818932G>A ENST00000309835.3 + 2 2081 c.2071G>A c.(2071-2073)Gga>Aga p.G691R STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.G691R|STON1_ENST00000406226.1_Missense_Mutation_p.G691R|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.G691R|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.G691R|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.G691R|STON1_ENST00000404752.1_Missense_Mutation_p.G691R|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.G691R stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CAGGTCTCTGGGAGTGGAGAG 0.488000 31 25 0 0 0.008361 0 0 FDXR 2232 broad.mit.edu 37 17 72858944 72858944 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:72858944G>A ENST00000442102.2 - 12 1686 c.1600C>T c.(1600-1602)Cac>Tac p.H534Y FDXR_ENST00000544854.1_Missense_Mutation_p.H439Y|FDXR_ENST00000583917.1_Missense_Mutation_p.H463Y|FDXR_ENST00000293195.5_Missense_Mutation_p.H491Y|FDXR_ENST00000420580.2_Missense_Mutation_p.H451Y|FDXR_ENST00000455107.2_3'UTR|FDXR_ENST00000581530.1_Missense_Mutation_p.H497Y|FDXR_ENST00000582944.1_Missense_Mutation_p.H483Y|FDXR_ENST00000413947.2_Missense_Mutation_p.H522Y NM_001258012.1 NP_001244941.1 P22570 ADRO_HUMAN ferredoxin reductase 491 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) TGGGCTCAGTGGCCCAGGAGG 0.682000 8 45 0 0 0.003080 0 0 MYH8 4626 broad.mit.edu 37 17 10304266 10304266 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:10304266C>T ENST00000403437.2 - 26 3359 c.3265G>A c.(3265-3267)Gaa>Aaa p.E1089K CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1089 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 TTGCTGATTTCAAATTCTTTC 0.333000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 9 11 0 0 0.004482 0 0 LINGO2 158038 broad.mit.edu 37 9 27949575 27949575 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:27949575C>T ENST00000379992.2 - 6 1544 c.1095G>A c.(1093-1095)tgG>tgA p.W365* LINGO2_ENST00000308675.3_Nonsense_Mutation_p.W365* NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 365 LRRCT. integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) GCTGCAAGATCCAGAGAAGGC 0.542000 6 17 0 0 0.001168 0 0 REM1 28954 broad.mit.edu 37 20 30064427 30064427 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:30064427C>T ENST00000201979.2 + 2 472 c.179C>T c.(178-180)tCa>tTa p.S60L DEFB124_ENST00000481595.1_Intron NM_014012.4 NP_054731.2 O75628 REM1_HUMAN RAS (RAD and GEM)-like GTP-binding 1 60 small GTPase mediated signal transduction membrane calmodulin binding|GTP binding|GTPase activity kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1) 23 all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CAGAAACCTTCACCTGCCCCA 0.612000 16 35 0 0 0.004007 0 0 CAMK2D 817 broad.mit.edu 37 4 114378625 114378625 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:114378625C>T ENST00000454265.2 - 19 2232 c.1374G>A c.(1372-1374)agG>agA p.R458R CAMK2D_ENST00000394524.3_Silent_p.R433R|CAMK2D_ENST00000418639.2_Silent_p.R447R|CAMK2D_ENST00000342666.5_Silent_p.R433R|CAMK2D_ENST00000511664.1_Silent_p.R467R|CAMK2D_ENST00000514328.1_Silent_p.R432R|CAMK2D_ENST00000394522.3_Silent_p.R447R|CAMK2D_ENST00000508738.1_Silent_p.R444R|CAMK2D_ENST00000515496.1_Silent_p.R444R|CAMK2D_ENST00000429180.1_Silent_p.R453R|CAMK2D_ENST00000394526.2_Silent_p.R444R|CAMK2D_ENST00000379773.2_Silent_p.R433R|CAMK2D_ENST00000296402.5_Silent_p.R433R|CAMK2D_ENST00000505990.1_Silent_p.R467R Q13557 KCC2D_HUMAN calcium/calmodulin-dependent protein kinase II delta 433 interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 13 Ovarian(17;0.00369)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000271) ACTGTGTGAGCCTAATATATG 0.458000 34 35 0 0 0.012213 0 0 NANS 54187 broad.mit.edu 37 9 100843246 100843246 + Missense_Mutation SNP C C T rs117325934 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:100843246C>T ENST00000210444.5 + 5 822 c.752C>T c.(751-753)tCg>tTg p.S251L TRIM14_ENST00000375098.3_Intron|NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000478530.1_5'UTR NM_018946.3 NP_061819.2 Q9NR45 SIAS_HUMAN N-acetylneuraminic acid synthase 251 lipopolysaccharide biosynthetic process cytoplasm N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 11 Acute lymphoblastic leukemia(62;0.0559) AGTGACCACTCGGCCTCGCTG 0.617000 16 21 0 0 0.004007 0 0 OR51F1 256892 broad.mit.edu 37 11 4790995 4790995 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:4790995G>A ENST00000380383.1 - 1 173 c.174C>T c.(172-174)atC>atT p.I58I OR51F1_ENST00000343430.3_Silent_p.I51I|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, member 1 51 integral to membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) GCTGGGTAATGATGACAAACA 0.463000 8 25 0 0 0.003080 0 0 CYP1A2 1544 broad.mit.edu 37 15 75047367 75047367 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:75047367C>T ENST00000343932.4 + 7 1552 c.1489C>T c.(1489-1491)Ctg>Ttg p.L497L NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 497 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) CATCTACGGGCTGACCATGAA 0.612000 5 34 0 0 0.000602 0 0 KCNK10 54207 broad.mit.edu 37 14 88729615 88729615 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:88729615G>A ENST00000340700.5 - 2 769 c.318C>T c.(316-318)gcC>gcT p.A106A KCNK10_ENST00000312350.5_Silent_p.A111A|KCNK10_ENST00000319231.5_Silent_p.A111A NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 106 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 CCTTCTCCAAGGCGATGGTAT 0.562000 7 17 0 0 0.013537 0 0 TLR4 7099 broad.mit.edu 37 9 120474858 120474858 + Missense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:120474858C>A ENST00000355622.6 + 3 553 c.452C>A c.(451-453)aCt>aAt p.T151N TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.T111N NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 151 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 CATCTCAAAACTTTGAAAGAA 0.418000 9 39 1.12685e-05 1.22345e-05 0.004482 1 0 OR13C8 138802 broad.mit.edu 37 9 107331603 107331603 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:107331603A>T ENST00000335040.1 + 1 155 c.155A>T c.(154-156)gAt>gTt p.D52V NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D52G(1) NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 ATCATCTTTGATTCTCACCTG 0.443000 76 104 0 0 0.014410 0 0 CROCCP2 84809 broad.mit.edu 37 1 16945450 16945450 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:16945450G>A ENST00000412962.1 - 0 2069 GCCTCCCTACGACGGCAGGCC 0.642000 9 96 0 0 0.006214 0 0 OR8K3 219473 broad.mit.edu 37 11 56086445 56086445 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:56086445C>T ENST00000312711.1 + 1 663 c.663C>T c.(661-663)atC>atT p.I221I NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) ACCTGCTCATCCTTGTAGCCA 0.388000 12 26 0 0 0.001855 0 0 NOS1 4842 broad.mit.edu 37 12 117710301 117710301 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:117710301G>A ENST00000317775.6 - 10 2413 c.1728C>T c.(1726-1728)ctC>ctT p.L576L NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.L576L NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 576 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 p.L576L(1) 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) CAATCTCTAGGAGCATGTTGG 0.612000 21 16 0 0 0.014323 0 0 AZGP1 563 broad.mit.edu 37 7 99564826 99564826 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:99564826C>T ENST00000292401.4 - 4 833 c.697G>A c.(697-699)Ggg>Agg p.G233R AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR NM_001185.3 NP_001176.1 P25311 ZA2G_HUMAN alpha-2-glycoprotein 1, zinc-binding 233 Ig-like C1-type. antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation extracellular region|MHC class I protein complex fatty acid binding|protein transmembrane transporter activity|ribonuclease activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1) 16 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) TCAATTTTCCCTGGGTAGAAG 0.557000 4 25 0 0 0.000602 0 0 TNIP1 10318 broad.mit.edu 37 5 150411874 150411874 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:150411874G>A ENST00000389378.2 - 17 2438 c.1850C>T c.(1849-1851)cCt>cTt p.P617L TNIP1_ENST00000315050.7_Missense_Mutation_p.P617L|TNIP1_ENST00000521591.1_Missense_Mutation_p.P617L|TNIP1_ENST00000520931.1_Missense_Mutation_p.P564L|TNIP1_ENST00000523200.1_Missense_Mutation_p.P553L|TNIP1_ENST00000518977.1_Missense_Mutation_p.P617L|TNIP1_ENST00000523338.1_Missense_Mutation_p.P617L|TNIP1_ENST00000521423.1_5'UTR|TNIP1_ENST00000524280.1_Intron|TNIP1_ENST00000522226.1_Missense_Mutation_p.P617L NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4 NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3 Q15025 TNIP1_HUMAN TNFAIP3 interacting protein 1 617 Pro-rich. defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation cytoplasm|nucleus protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3) 23 Medulloblastoma(196;0.0911)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGCTGTGGGAGGGTCCATCAC 0.517000 6 16 0 0 0.001168 0 0 ZNF559 84527 broad.mit.edu 37 19 9453397 9453397 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9453397C>T ENST00000393883.2 + 6 1918 c.1270C>T c.(1270-1272)Ctt>Ttt p.L424F ZNF559_ENST00000603380.1_Missense_Mutation_p.L424F|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.L488F|ZNF559_ENST00000538743.1_Missense_Mutation_p.L344F|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR NM_001202412.1 NP_001189341.1 Q9BR84 ZN559_HUMAN zinc finger protein 559 424 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1) 26 ATCCTCATTTCTTATTCGACA 0.408000 7 36 0 0 0.003080 0 0 CR2 1380 broad.mit.edu 37 1 207649738 207649738 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:207649738G>A ENST00000367057.3 + 15 3065 c.2876G>A c.(2875-2877)tGg>tAg p.W959* CR2_ENST00000458541.2_Nonsense_Mutation_p.W873*|CR2_ENST00000367059.3_Intron|CR2_ENST00000367058.3_Nonsense_Mutation_p.W900* NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 900 Sushi 15. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 GAGGGAACCTGGAGCCAACCT 0.423000 17 26 0 0 0.006122 0 0 DNAH9 1770 broad.mit.edu 37 17 11556305 11556305 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:11556305C>T ENST00000262442.3 + 14 2649 c.2581C>T c.(2581-2583)Cac>Tac p.H861Y DNAH9_ENST00000454412.2_Missense_Mutation_p.H861Y NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 861 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) CCTTAAGATCCACGCCCTTGT 0.418000 11 12 0 0 0.010729 0 0 OR2C1 4993 broad.mit.edu 37 16 3406776 3406776 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:3406776C>T ENST00000304936.2 + 1 888 c.836C>T c.(835-837)tCg>tTg p.S279L NM_012368.2 NP_036500.2 O95371 OR2C1_HUMAN olfactory receptor, family 2, subfamily C, member 1 279 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S279W(1) kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 CTGTTCTACTCGTTGGTCACA 0.542000 8 31 0 0 0.003080 0 0 PGPEP1 54858 broad.mit.edu 37 19 18453694 18453694 + Silent SNP C C T rs147343602 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:18453694C>T ENST00000269919.5 + 2 155 c.60C>T c.(58-60)acC>acT p.T20T PGPEP1_ENST00000252813.5_Intron|PGPEP1_ENST00000604499.1_Silent_p.T20T|PGPEP1_ENST00000595066.1_Silent_p.T20T|PGPEP1_ENST00000595552.1_Silent_p.T20T NM_017712.2 NP_060182.1 Q9NXJ5 PGPI_HUMAN pyroglutamyl-peptidase I 20 cysteine-type peptidase activity GGGAACACACCGTGAACGCCA 0.537000 21 34 0 0 0.002780 0 0 OR6C68 403284 broad.mit.edu 37 12 55886866 55886866 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:55886866C>T ENST00000379662.1 + 1 720 c.720C>T c.(718-720)gcC>gcT p.A240A OR6C68_ENST00000548615.1_Silent_p.A235A|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA A6NDL8 O6C68_HUMAN olfactory receptor, family 6, subfamily C, member 68 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 AGAAAAAAGCCTTTTCTACCT 0.333000 13 14 0 0 0.013537 0 0 E2F6 1876 broad.mit.edu 37 2 11593743 11593743 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:11593743G>A ENST00000381525.3 - 3 614 c.345C>T c.(343-345)ctC>ctT p.L115L E2F6_ENST00000542100.1_Silent_p.L40L|E2F6_ENST00000362009.4_Silent_p.L115L|E2F6_ENST00000307236.4_Silent_p.L83L|E2F6_ENST00000546212.1_Silent_p.L40L NM_198256.2 NP_937987.2 O75461 E2F6_HUMAN E2F transcription factor 6 115 negative regulation of transcription from RNA polymerase II promoter MLL1 complex|transcription factor complex DNA binding|transcription corepressor activity cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2) 8 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168) TCTTTTCAACGAGGTCGATTC 0.423000 42 46 0 0 0.014410 0 0 OR13C2 392376 broad.mit.edu 37 9 107367602 107367602 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:107367602G>A ENST00000542196.1 - 1 349 c.307C>T c.(307-309)Ctc>Ttc p.L103F NM_001004481.1 NP_001004481.1 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, member 2 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 GCCAAGCCGAGGAACATCTGC 0.517000 23 71 0 0 0.004656 0 0 DMRT3 58524 broad.mit.edu 37 9 990474 990474 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:990474G>A ENST00000190165.2 + 2 926 c.888G>A c.(886-888)gaG>gaA p.E296E NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 296 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) CGGGAGCAGAGCGAACTTCCG 0.582000 22 35 0 0 0.010504 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518865 113518865 + Missense_Mutation SNP C C T rs62001880 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:113518865C>T ENST00000284601.3 - 4 2350 c.2282G>A c.(2281-2283)cGa>cAa p.R761Q NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 761 glycogen metabolic process integral to membrane p.R761Q(1) 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 CCTGTCACTTCGTGCTGTCTC 0.413000 29 57 0 0 0.012213 0 0 HERC3 8916 broad.mit.edu 37 4 89608440 89608440 + Nonsense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:89608440A>T ENST00000402738.1 + 23 2886 c.2647A>T c.(2647-2649)Aag>Tag p.K883* HERC3_ENST00000543130.1_Nonsense_Mutation_p.K327*|HERC3_ENST00000264345.3_Nonsense_Mutation_p.K883* NM_001271602.1|NM_014606.1 NP_001258531.1|NP_055421.1 Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 883 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) AACTGTGTGCAAGGATAACAG 0.353000 9 6 0 0 0.006214 0 0 SPEF2 79925 broad.mit.edu 37 5 35727893 35727893 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:35727893G>A ENST00000440995.2 + 21 3016 c.3016G>A c.(3016-3018)Gaa>Aaa p.E1006K SPEF2_ENST00000356031.3_Missense_Mutation_p.E1011K|CTD-2113L7.1_ENST00000510433.1_RNA Q9C093 SPEF2_HUMAN sperm flagellar 2 1011 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGGATCAGAAGAATGGGTCTA 0.428000 15 29 0 0 0.004990 0 0 DSG4 147409 broad.mit.edu 37 18 28986274 28986274 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:28986274C>T ENST00000359747.4 + 12 1900 c.1871C>T c.(1870-1872)tCa>tTa p.S624L DSG4_ENST00000308128.4_Missense_Mutation_p.S624L|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 624 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GCTGGAGTTTCAAATGTTGGT 0.478000 14 63 0 0 0.003163 0 0 FBN2 2201 broad.mit.edu 37 5 127728929 127728929 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:127728929C>T ENST00000508053.1 - 16 2338 c.1364G>A c.(1363-1365)gGg>gAg p.G455E FBN2_ENST00000262464.4_Missense_Mutation_p.G455E|FBN2_ENST00000508989.1_Missense_Mutation_p.G422E P35556 FBN2_HUMAN fibrillin 2 455 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GAAGCCTGTCCCTCCTGGGCC 0.612000 13 50 0 0 0.001855 0 0 FLRT2 23768 broad.mit.edu 37 14 86089609 86089609 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:86089609G>A ENST00000330753.4 + 2 2518 c.1751G>A c.(1750-1752)cGg>cAg p.R584Q FLRT2_ENST00000554746.1_Missense_Mutation_p.R584Q NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 584 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) CGGGGCCGGCGGAAAGATGAT 0.493000 38 55 0 0 0.005524 0 0 CLU 1191 broad.mit.edu 37 8 27456060 27456060 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:27456060G>A ENST00000316403.10 - 8 1662 c.1257C>T c.(1255-1257)gtC>gtT p.V419V CLU_ENST00000405140.3_Silent_p.V419V|CLU_ENST00000546343.1_Silent_p.V430V|CLU_ENST00000560366.1_Silent_p.V471V|CLU_ENST00000523500.1_Silent_p.V419V P10909 CLUS_HUMAN clusterin 419 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2) 21 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) CTTCTACAGGGACCGTCACAG 0.542000 9 70 0 0 0.006214 0 0 CDH5 1003 broad.mit.edu 37 16 66436656 66436656 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:66436656G>A ENST00000341529.3 + 12 2087 c.1939G>A c.(1939-1941)Gag>Aag p.E647K CDH5_ENST00000539168.1_Missense_Mutation_p.E86K NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 647 adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) CACCTACGACGAGGAGGGCGG 0.721000 9 9 0 0 0.006214 0 0 CEP76 79959 broad.mit.edu 37 18 12674539 12674539 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:12674539G>A ENST00000262127.2 - 11 2062 c.1837C>T c.(1837-1839)Ctt>Ttt p.L613F CEP76_ENST00000423709.2_Missense_Mutation_p.L538F|RP11-973H7.2_ENST00000585331.1_RNA NM_024899.2 NP_079175.2 Q8TAP6 CEP76_HUMAN centrosomal protein 76kDa 613 G2/M transition of mitotic cell cycle|regulation of centriole replication centriole|cytosol protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CCTTACCGAAGACATGTGGCA 0.363000 28 31 0 0 0.006320 0 0 SULT2A1 6822 broad.mit.edu 37 19 48382323 48382323 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:48382323G>A ENST00000222002.3 - 4 676 c.537C>T c.(535-537)ttC>ttT p.F179F NM_003167.3 NP_003158.2 Q06520 ST2A1_HUMAN sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 179 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) TCAGTAACAGGAAGTTTTTCT 0.448000 55 114 0 0 0.014410 0 0 PRSS45 377047 broad.mit.edu 37 3 46785598 46785598 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:46785598G>A ENST00000442359.2 - 2 145 c.146C>T c.(145-147)tCc>tTc p.S49F PRSS50_ENST00000460241.1_Intron NM_199183.2 NP_954652.2 Q7RTY3 PRS45_HUMAN protease, serine, 45 49 Peptidase S1. proteolysis serine-type endopeptidase activity kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 CTGCAGCTTGGAGGTGCCAAG 0.582000 5 4 0 0 0.001168 0 0 MUC4 4585 broad.mit.edu 37 3 195517235 195517235 + Missense_Mutation SNP T T G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:195517235T>G ENST00000463781.3 - 2 1675 c.1216A>C c.(1216-1218)Aac>Cac p.N406H MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.N406H|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 411 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TCCTCTGTGTTTCCAAGAGTA 0.453000 42 61 0 0 0.006999 0 0 DDC 1644 broad.mit.edu 37 7 50605603 50605603 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:50605603C>T ENST00000444124.2 - 4 590 c.390G>A c.(388-390)aaG>aaA p.K130K DDC_ENST00000489162.1_5'UTR|DDC_ENST00000357936.5_Silent_p.K130K|DDC_ENST00000431062.1_Silent_p.K130K|DDC_ENST00000380984.4_Silent_p.K130K|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000426377.1_Intron NM_001082971.1 NP_001076440.1 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 130 2 X approximate tandem repeats. cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) TCAAAAATGCCTTTGGTAGTT 0.557000 14 60 0 0 0.004990 0 0 MCTP2 55784 broad.mit.edu 37 15 94884147 94884147 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:94884147G>A ENST00000357742.4 + 6 963 c.963G>A c.(961-963)aaG>aaA p.K321K MCTP2_ENST00000451018.3_Silent_p.K321K|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Silent_p.K321K NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 321 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) GTGATTTCAAGAGACACGTAA 0.378000 5 13 0 0 0.000602 0 0 HECW1 23072 broad.mit.edu 37 7 43484268 43484268 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:43484268G>A ENST00000395891.1 + 11 2102 c.1497G>A c.(1495-1497)agG>agA p.R499R HECW1_ENST00000453890.1_Silent_p.R499R NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 499 Glu-rich. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 GGGCTGGAAGggaagaagagg 0.622000 3 6 0 0 0.004672 0 0 CYP4F11 57834 broad.mit.edu 37 19 16032971 16032971 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:16032971C>T ENST00000326742.7 - 8 992 c.991G>A c.(991-993)Gac>Aac p.D331N CYP4F11_ENST00000402119.3_Missense_Mutation_p.D331N|CYP4F11_ENST00000248041.7_Missense_Mutation_p.D331N Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 331 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 GCTGTAGTGTCATGGCCTGAG 0.562000 7 39 0 0 0.003080 0 0 TNXB 7148 broad.mit.edu 37 6 32038093 32038093 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:32038093G>A ENST00000375244.3 - 14 5290 c.5089C>T c.(5089-5091)Cct>Tct p.P1697S TNXB_ENST00000375247.2_Missense_Mutation_p.P1697S P22105 TENX_HUMAN tenascin XB 1779 Fibronectin type-III 9. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TGGCCCTCAGGAACCGTCCAG 0.662000 69 123 0 0 0.014410 0 0 CYP4F12 66002 broad.mit.edu 37 19 15807820 15807820 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:15807820G>A ENST00000550308.1 + 13 1880 c.1500G>A c.(1498-1500)agG>agA p.R500R CYP4F12_ENST00000324632.9_Silent_p.R500R 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) AGCCCCGCAGGAAGCTGGAAT 0.597000 20 39 0 0 0.012319 0 0 STAB2 55576 broad.mit.edu 37 12 104063338 104063338 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:104063338G>A ENST00000388887.2 + 21 2396 c.2192G>A c.(2191-2193)gGc>gAc p.G731D NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 731 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 TGCTGCAAAGGCTTCTATGGA 0.453000 52 32 0 0 0.014410 0 0 SATB1 6304 broad.mit.edu 37 3 18391025 18391025 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:18391025C>T ENST00000338745.6 - 11 3663 c.1929G>A c.(1927-1929)caG>caA p.Q643Q SATB1_ENST00000454909.2_Silent_p.Q643Q|SATB1_ENST00000417717.2_Silent_p.Q675Q|TBC1D5_ENST00000414318.2_Intron NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 643 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 GCCGGGTCTTCTGTCGGTTTT 0.592000 23 69 0 0 0.002780 0 0 TTN 7273 broad.mit.edu 37 2 179416711 179416711 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179416711C>T ENST00000589042.1 - 335 91140 c.90916G>A c.(90916-90918)Gga>Aga p.G30306R TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G21241R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G21366R|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G27738R|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G21433R|TTN_ENST00000591111.1_Missense_Mutation_p.G28665R|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28665 Fibronectin type-III 121. 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) TGGCTGACTCCGTATCTGTTT 0.438000 16 51 0 0 0.003163 0 0 TLN1 7094 broad.mit.edu 37 9 35710878 35710878 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:35710878G>A ENST00000314888.9 - 32 4472 c.4119C>T c.(4117-4119)gtC>gtT p.V1373V TLN1_ENST00000540444.1_Silent_p.V1373V NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 1373 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) GGAGTTCCCGGACCGTCTGTG 0.547000 24 55 0 0 0.003954 0 0 SERPINA4 5267 broad.mit.edu 37 14 95033528 95033528 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:95033528G>A ENST00000557004.1 + 3 1292 c.871G>A c.(871-873)Gag>Aag p.E291K SERPINA4_ENST00000555095.1_Missense_Mutation_p.E291K|SERPINA4_ENST00000298841.5_Missense_Mutation_p.E291K|SERPINA5_ENST00000553780.1_Intron P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 291 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) GGAGATTGAAGAGGTTCTGAC 0.463000 7 22 0 0 0.001984 0 0 PTPRJ 5795 broad.mit.edu 37 11 48158626 48158626 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:48158626G>A ENST00000418331.2 + 10 2297 c.1945G>A c.(1945-1947)Gat>Aat p.D649N NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 649 Fibronectin type-III 7. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GCAGAACTTTGATGACGCCTC 0.443000 9 62 0 0 0.008291 0 0 ABCD2 225 broad.mit.edu 37 12 39994425 39994425 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:39994425C>T ENST00000308666.3 - 6 1729 c.1594G>A c.(1594-1596)Gaa>Aaa p.E532K NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 532 ABC transporter. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 AGGACTCCTTCATACACAGGC 0.373000 34 58 0 0 0.003271 0 0 SLC6A9 6536 broad.mit.edu 37 1 44468196 44468196 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:44468196G>A ENST00000372310.3 - 7 1011 c.846C>T c.(844-846)atC>atT p.I282I SLC6A9_ENST00000372306.3_Silent_p.I282I|SLC6A9_ENST00000360584.2_Silent_p.I355I|SLC6A9_ENST00000372307.3_Silent_p.I217I|SLC6A9_ENST00000357730.2_Silent_p.I301I|SLC6A9_ENST00000537678.1_Silent_p.I217I|SLC6A9_ENST00000475075.2_Silent_p.I171I NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 355 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) TGGCCTCCAGGATCTTGTCCC 0.632000 11 42 0 0 0.013537 0 0 FIBIN 387758 broad.mit.edu 37 11 27016391 27016391 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:27016391C>T ENST00000318627.2 + 1 764 c.318C>T c.(316-318)tcC>tcT p.S106S NM_203371.1 NP_976249.1 Q8TAL6 FIBIN_HUMAN fin bud initiation factor homolog (zebrafish) 106 extracellular region|Golgi apparatus breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1) 11 AAAGCATCTCCTACGACCTAG 0.632000 5 37 0 0 0.000602 0 0 PSMD13 5719 broad.mit.edu 37 11 251895 251895 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:251895C>T ENST00000532097.1 + 12 1498 c.994C>T c.(994-996)Cac>Tac p.H332Y PSMD13_ENST00000532025.1_3'UTR|PSMD13_ENST00000352303.5_Missense_Mutation_p.H305Y|PSMD13_ENST00000431206.2_Missense_Mutation_p.H334Y NM_002817.3 NP_002808.3 Q9UNM6 PSD13_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 332 PCI. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle protein binding NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 10 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129) CAAACGAGTCCACATGACCTG 0.527000 46 121 0 0 0.014410 0 0 PHKG1 5260 broad.mit.edu 37 7 56149359 56149359 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:56149359C>T ENST00000452681.2 - 10 1127 c.978G>A c.(976-978)gaG>gaA p.E326E PHKG1_ENST00000537360.1_Silent_p.E240E|PHKG1_ENST00000297373.2_Silent_p.E294E NM_001258459.1 NP_001245388.1 Q16816 PHKG1_HUMAN phosphorylase kinase, gamma 1 (muscle) 294 Calmodulin-binding (domain-N). glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity endometrium(1)|large_intestine(1)|lung(5) 7 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GCCGCACTTCCTCCACCAAGT 0.602000 8 44 0 0 0.003080 0 0 KIAA1958 158405 broad.mit.edu 37 9 115337393 115337393 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:115337393C>T ENST00000337530.6 + 2 1329 c.1033C>T c.(1033-1035)Cat>Tat p.H345Y KIAA1958_ENST00000374244.3_Missense_Mutation_p.H345Y|KIAA1958_ENST00000536272.1_Missense_Mutation_p.H345Y NM_133465.2 NP_597722.1 Q8N8K9 K1958_HUMAN KIAA1958 345 p.H345N(1) endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 GTTCCTGTCCCATCTGCCCAG 0.567000 25 105 0 0 0.002780 0 0 CLCN1 1180 broad.mit.edu 37 7 143028356 143028356 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:143028356C>T ENST00000343257.2 + 9 1098 c.1011C>T c.(1009-1011)ttC>ttT p.F337F NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 337 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) GAACCAATTTCCGAATGGATT 0.522000 20 72 0 0 0.003954 0 0 BRINP2 57795 broad.mit.edu 37 1 177250287 177250287 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:177250287G>A ENST00000361539.4 + 8 2287 c.1975G>A c.(1975-1977)Gag>Aag p.E659K FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 659 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 CAGCTCCAATGAGACAATCTA 0.458000 19 52 0 0 0.014323 0 0 TEAD1 7003 broad.mit.edu 37 11 12903501 12903501 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:12903501C>T ENST00000361905.4 + 8 1191 c.526C>T c.(526-528)Cca>Tca p.P176S TEAD1_ENST00000361985.2_Missense_Mutation_p.P191S|TEAD1_ENST00000526600.1_Missense_Mutation_p.P95S|TEAD1_ENST00000527575.1_Missense_Mutation_p.P191S|TEAD1_ENST00000527636.1_Missense_Mutation_p.P191S|TEAD1_ENST00000334310.6_Missense_Mutation_p.P180S NM_021961.5 NP_068780.2 P28347 TEAD1_HUMAN TEA domain family member 1 (SV40 transcriptional enhancer factor) 191 Pro-rich.|Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9) 17 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) AGCCCCCATTCCAGGTGAGTG 0.552000 26 37 0 0 0.006320 0 0 DGCR14 8220 broad.mit.edu 37 22 19125737 19125737 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:19125737G>A ENST00000252137.6 - 7 959 c.916C>T c.(916-918)Cct>Tct p.P306S NM_022719.2 NP_073210.1 Q96DF8 DGC14_HUMAN DiGeorge syndrome critical region gene 14 306 nervous system development catalytic step 2 spliceosome breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 16 Colorectal(54;0.0993) CCAGGGGCAGGGGAAGGAGTG 0.632000 9 26 0 0 0.006214 0 0 OR8K3 219473 broad.mit.edu 37 11 56085818 56085818 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:56085818C>T ENST00000312711.1 + 1 36 c.36C>T c.(34-36)ttC>ttT p.F12F NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) TGAATGAATTCATTCTTACGG 0.413000 20 55 0 0 0.008871 0 0 TRAF1 7185 broad.mit.edu 37 9 123673735 123673735 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:123673735C>T ENST00000373887.3 - 6 3207 c.762G>A c.(760-762)gaG>gaA p.E254E TRAF1_ENST00000540010.1_Silent_p.E254E|TRAF1_ENST00000546084.1_Silent_p.E132E NM_005658.4 NP_005649.1 Q13077 TRAF1_HUMAN TNF receptor-associated factor 1 254 apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction cytoplasm protein binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2) 22 GCAAGCTCTGCTCCAGCTTGC 0.607000 11 34 0 0 0.010729 0 0 IGFBPL1 347252 broad.mit.edu 37 9 38414197 38414197 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:38414197G>A ENST00000377694.1 - 2 486 c.464C>T c.(463-465)cCt>cTt p.P155L NM_001007563.1 NP_001007564.1 Q8WX77 IBPL1_HUMAN insulin-like growth factor binding protein-like 1 155 Ig-like C2-type. regulation of cell growth extracellular region insulin-like growth factor binding endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 4 GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116) GACGACCACAGGAGCTAGGAG 0.617000 9 40 0 0 0.006214 0 0 VSTM1 284415 broad.mit.edu 37 19 54545038 54545038 + Missense_Mutation SNP G G A rs141064630 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:54545038G>A ENST00000338372.2 - 8 761 c.586C>T c.(586-588)Ctc>Ttc p.L196F VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000366170.2_Missense_Mutation_p.L108F|VSTM1_ENST00000376626.1_Missense_Mutation_p.L165F NM_198481.3 NP_940883.2 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 196 integral to membrane breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) CTCACCGAGAGAGATACCCTT 0.468000 14 20 0 0 0.003163 0 0 TBX15 6913 broad.mit.edu 37 1 119427732 119427732 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:119427732G>A ENST00000369429.3 - 8 1441 c.1432C>T c.(1432-1434)Cag>Tag p.Q478* TBX15_ENST00000207157.3_Nonsense_Mutation_p.Q372* Q96SF7 TBX15_HUMAN T-box 15 478 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) ATGACATACTGAAACTGGGAA 0.567000 20 23 0 0 0.010504 0 0 DNAJA2 10294 broad.mit.edu 37 16 47001557 47001557 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:47001557G>A ENST00000317089.5 - 5 660 c.443_splice c.e5-1 p.Q149_splice NM_005880.3 NP_005871.1 O60884 DNJA2_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 2 149 positive regulation of cell proliferation|protein folding|response to heat membrane ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 14 all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116) TTTCCGCCTTGGCTAAAGCAA 0.468000 20 71 0 0 0.012319 0 0 TP63 8626 broad.mit.edu 37 3 189587118 189587118 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:189587118C>T ENST00000264731.3 + 9 1224 c.1135C>T c.(1135-1137)Cgt>Tgt p.R379C TP63_ENST00000437221.1_Missense_Mutation_p.R285C|TP63_ENST00000354600.5_Missense_Mutation_p.R285C|TP63_ENST00000320472.5_Missense_Mutation_p.R379C|TP63_ENST00000392463.2_Missense_Mutation_p.R285C|TP63_ENST00000449992.1_Missense_Mutation_p.R200C|TP63_ENST00000456148.1_Missense_Mutation_p.R281C|TP63_ENST00000382063.4_Missense_Mutation_p.R294C|TP63_ENST00000440651.2_Missense_Mutation_p.R375C|TP63_ENST00000392460.3_Missense_Mutation_p.R379C|TP63_ENST00000392461.3_Missense_Mutation_p.R285C|TP63_ENST00000418709.2_Missense_Mutation_p.R379C NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 379 Interaction with HIPK2. 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 p.R379C(1) 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) ACCAGCGTTTCGTCAGAACAC 0.363000 HNSCC(45;0.13) 7 33 0 0 0.006214 0 0 DEF6 50619 broad.mit.edu 37 6 35280081 35280081 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:35280081G>A ENST00000316637.5 + 4 431 c.426G>A c.(424-426)gtG>gtA p.V142V DEF6_ENST00000542066.1_Intron NM_022047.3 NP_071330.3 Q9H4E7 DEFI6_HUMAN differentially expressed in FDCP 6 homolog (mouse) 142 cytoplasm|nucleus|plasma membrane cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 15 TGCTCCAGGTGGAATACCTGC 0.607000 14 26 0 0 0.001855 0 0 ACSM5 54988 broad.mit.edu 37 16 20451727 20451727 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:20451727G>A ENST00000331849.4 + 14 1865 c.1718G>A c.(1717-1719)cGa>cAa p.R573Q CTD-2194A8.2_ENST00000574654.1_RNA NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 573 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 AGTAAATTGCGAAGTCAGGAG 0.488000 6 31 0 0 0.010729 0 0 BPIFA1 51297 broad.mit.edu 37 20 31825524 31825524 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:31825524C>T ENST00000354297.4 + 2 78 c.7C>T c.(7-9)Caa>Taa p.Q3* BPIFA1_ENST00000375422.2_Nonsense_Mutation_p.Q3*|BPIFA1_ENST00000375413.4_Nonsense_Mutation_p.Q3* NM_130852.2 NP_570913.1 Q9NP55 PLUNC_HUMAN BPI fold containing family A, member 1 3 innate immune response extracellular region lipid binding AAAGATGTTTCAAACTGGGGG 0.552000 19 27 0 0 0.008871 0 0 ZNF365 22891 broad.mit.edu 37 10 64136000 64136000 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:64136000C>T ENST00000395254.3 + 2 328 c.48C>T c.(46-48)tcC>tcT p.S16S ZNF365_ENST00000395255.3_Silent_p.S16S|ZNF365_ENST00000410046.3_Silent_p.S16S|ZNF365_ENST00000466727.1_Intron NM_014951.2 NP_055766.2 Q70YC4 TALAN_HUMAN zinc finger protein 365 0 breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) GGCAGGAGTCCTTTGAGAATG 0.493000 11 40 0 0 0.010729 0 0 ABCA12 26154 broad.mit.edu 37 2 215843674 215843674 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:215843674C>T ENST00000272895.7 - 32 5050 c.4831G>A c.(4831-4833)Gat>Aat p.D1611N ABCA12_ENST00000389661.4_Missense_Mutation_p.D1293N NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1611 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CCCCCAATATCCTCCTTGAGG 0.493000 14 37 0 0 0.002450 0 0 PTN 5764 broad.mit.edu 37 7 136936040 136936040 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:136936040C>T ENST00000348225.2 - 4 815 c.388G>A c.(388-390)Gaa>Aaa p.E130K PTN_ENST00000393083.2_Missense_Mutation_p.E130K NM_002825.5 NP_002816.1 P21246 PTN_HUMAN pleiotrophin 130 nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway endoplasmic reticulum|extracellular space growth factor activity|heparin binding|protein phosphatase inhibitor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 TTCTGGCATTCGGCATTGTGC 0.507000 66 134 0 0 0.014410 0 0 ATRNL1 26033 broad.mit.edu 37 10 117308974 117308974 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:117308974C>T ENST00000355044.3 + 26 3849 c.3723C>T c.(3721-3723)ttC>ttT p.F1241F ATRNL1_ENST00000303745.7_Silent_p.F34F|ATRNL1_ENST00000423111.2_Silent_p.F292F NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 1241 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) CCAGTTGTTTCCTATCCTTAT 0.313000 9 19 0 0 0.013537 0 0 SLC13A4 26266 broad.mit.edu 37 7 135378926 135378926 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:135378926C>T ENST00000354042.4 - 10 1766 c.1077G>A c.(1075-1077)gaG>gaA p.E359E NM_012450.2 NP_036582.2 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 4 359 integral to plasma membrane sodium:sulfate symporter activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 24 GGATCCTCTTCTCTGACAACT 0.413000 20 47 0 0 0.012319 0 0 OR2B11 127623 broad.mit.edu 37 1 247614805 247614805 + Silent SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:247614805G>T ENST00000318749.6 - 1 503 c.480C>A c.(478-480)tcC>tcA p.S160S NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CCTGCACGAAGGAGTTGCCGA 0.602000 9 25 3.09899e-07 3.37378e-07 0.004482 1 0 PLG 5340 broad.mit.edu 37 6 161173212 161173212 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:161173212C>T ENST00000308192.9 + 18 2254 c.2191C>T c.(2191-2193)Cgc>Tgc p.R731C NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 731 Peptidase S1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) AGTGTGCAATCGCTATGAGTT 0.473000 25 35 0 0 0.003954 0 0 PHKB 5257 broad.mit.edu 37 16 47644793 47644793 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:47644793A>G ENST00000455779.1 + 15 1584 c.1399A>G c.(1399-1401)Aag>Gag p.K467E PHKB_ENST00000323584.5_Missense_Mutation_p.K474E|PHKB_ENST00000299167.8_Missense_Mutation_p.K474E|PHKB_ENST00000566044.1_Missense_Mutation_p.K467E Q93100 KPBB_HUMAN phosphorylase kinase, beta 474 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1) 41 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) TGTCCCACTAAAGGATCAACG 0.368000 10 27 0 0 0.013537 0 0 ASNS 440 broad.mit.edu 37 7 97483989 97483989 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:97483989G>A ENST00000175506.4 - 11 1669 c.1141C>T c.(1141-1143)Cct>Tct p.P381S ASNS_ENST00000394308.3_Missense_Mutation_p.P381S|ASNS_ENST00000444334.1_Missense_Mutation_p.P360S|ASNS_ENST00000437628.1_Missense_Mutation_p.P298S|ASNS_ENST00000422745.1_Missense_Mutation_p.P360S|ASNS_ENST00000455086.1_Missense_Mutation_p.P298S|ASNS_ENST00000394309.3_Missense_Mutation_p.P381S NM_183356.3 NP_899199.2 P08243 ASNS_HUMAN asparagine synthetase (glutamine-hydrolyzing) 381 Asparagine synthetase. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TCAGGAGAAGGAGCCTATTTC 0.448000 14 28 0 0 0.003163 0 0 FAM171B 165215 broad.mit.edu 37 2 187627133 187627133 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:187627133C>T ENST00000304698.5 + 8 2267 c.2064C>T c.(2062-2064)tcC>tcT p.S688S NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 688 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 TGAGGCACTCCTTTATAGACC 0.517000 10 46 0 0 0.006214 0 0 DEFB131 644414 broad.mit.edu 37 4 9452214 9452214 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:9452214G>A ENST00000334879.1 + 2 187 c.187G>A c.(187-189)Gaa>Aaa p.E63K NM_001040448.2|NM_001242853.1 NP_001035538.2|NP_001229782.1 P59861 DB131_HUMAN defensin, beta 131 63 defense response to bacterium extracellular region lung(2) 2 GAAGATCATTGAAATTGACGG 0.363000 7 8 0 0 0.003080 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935935 151935935 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:151935935G>A ENST00000393902.3 - 3 799 c.232C>T c.(232-234)Cct>Tct p.P78S MAGEA3_ENST00000370278.3_Missense_Mutation_p.P78S P43357 MAGA3_HUMAN melanoma antigen family A, 3 78 endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) CTCCAGAGAGGGTAGTTCATG 0.592000 14 7 0 0 0.006122 0 0 GPA33 10223 broad.mit.edu 37 1 167042670 167042670 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:167042670G>A ENST00000367868.3 - 2 493 c.150C>T c.(148-150)tcC>tcT p.S50S GPA33_ENST00000527955.1_5'UTR NM_005814.1 NP_005805.1 Q99795 GPA33_HUMAN glycoprotein A33 (transmembrane) 50 Ig-like V-type. integral to plasma membrane receptor activity endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 CCTCTCGACTGGAGGTGGAAG 0.517000 14 29 0 0 0.004990 0 0 CPNE8 144402 broad.mit.edu 37 12 39161474 39161474 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:39161474G>A ENST00000331366.5 - 8 634 c.538C>T c.(538-540)Cct>Tct p.P180S CPNE8_ENST00000360449.3_Missense_Mutation_p.P168S NM_153634.2 NP_705898.1 Q86YQ8 CPNE8_HUMAN copine VIII 180 C2 2. NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 21 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) ACAAGGAAAGGATCTGATTTT 0.289000 27 31 0 0 0.009535 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73022164 73022164 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:73022164C>T ENST00000263674.3 + 1 2831 c.2481C>T c.(2479-2481)tcC>tcT p.S827S NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 827 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 AGAAGAAATCCCTGAGTGACC 0.622000 32 47 0 0 0.012213 0 0 TRAV18 28665 broad.mit.edu 37 14 22471402 22471402 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:22471402C>T ENST00000390446.3 + 0 58 ATATACCTTTCGGTTTGGATA 0.408000 24 13 0 0 0.003954 0 0 C20orf85 128602 broad.mit.edu 37 20 56728623 56728623 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:56728623C>T ENST00000371168.3 + 2 153 c.92C>T c.(91-93)tCg>tTg p.S31L NM_178456.2 NP_848551.1 Q9H1P6 CT085_HUMAN chromosome 20 open reading frame 85 31 kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 13 all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118) BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07) AAGGCTGAATCGGAAGCACGG 0.473000 29 53 0 0 0.013726 0 0 FCHO2 115548 broad.mit.edu 37 5 72333013 72333013 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:72333013C>T ENST00000430046.2 + 10 1001 c.885C>T c.(883-885)atC>atT p.I295I FCHO2_ENST00000512348.1_Silent_p.I262I|FCHO2_ENST00000287761.6_Silent_p.I295I|FCHO2_ENST00000341845.6_Silent_p.I295I NM_001146032.1|NM_138782.2 NP_001139504.1|NP_620137.2 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 295 cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 17 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) TGCCAGGAATCATTAAAAAGG 0.249000 5 13 0 0 0.001984 0 0 TTN 7273 broad.mit.edu 37 2 179395822 179395822 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179395822G>A ENST00000589042.1 - 358 105744 c.105520C>T c.(105520-105522)Cgc>Tgc p.R35174C TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R26109C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R26234C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R32606C|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R26301C|TTN_ENST00000591111.1_Missense_Mutation_p.R33533C|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33533 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) ACTTGGTGGCGGGCAGAAGTA 0.512000 33 167 0 0 0.003271 0 0 C14orf28 122525 broad.mit.edu 37 14 45369720 45369720 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:45369720C>T ENST00000325192.3 + 2 357 c.82C>T c.(82-84)Cct>Tct p.P28S RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Missense_Mutation_p.P28S NM_001017923.1 NP_001017923.1 Q4W4Y0 CN028_HUMAN chromosome 14 open reading frame 28 28 endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2) 11 GCCTGTTCTTCCTTGGGGGGG 0.373000 8 46 0 0 0.006214 0 0 FCGBP 8857 broad.mit.edu 37 19 40368658 40368658 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:40368658G>A ENST00000221347.6 - 28 12697 c.12690C>T c.(12688-12690)ttC>ttT p.F4230F NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4230 VWFD 10. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TGCCATTAGGGAAGACCTGGT 0.642000 37 234 0 0 0.014410 0 0 MUC16 94025 broad.mit.edu 37 19 9084264 9084264 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9084264C>T ENST00000397910.4 - 1 7754 c.7551G>A c.(7549-7551)atG>atA p.M2517I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2517 Ser-rich.|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 TGAGAAAGCCCATGGCAGGTA 0.517000 12 33 0 0 0.001855 0 0 DIAPH1 1729 broad.mit.edu 37 5 140954622 140954622 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140954622C>T ENST00000253811.6 - 15 1693 c.1553G>A c.(1552-1554)gGa>gAa p.G518E DIAPH1_ENST00000518047.1_Missense_Mutation_p.G509E|DIAPH1_ENST00000520569.1_Missense_Mutation_p.G464E|DIAPH1_ENST00000389057.5_Missense_Mutation_p.G509E|DIAPH1_ENST00000398562.2_Missense_Mutation_p.G509E|DIAPH1_ENST00000398566.3_Missense_Mutation_p.G509E|DIAPH1_ENST00000389054.3_Missense_Mutation_p.G518E|DIAPH1_ENST00000398557.4_Missense_Mutation_p.G518E O60610 DIAP1_HUMAN diaphanous-related formin 1 518 regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCTTTTTCTCCCTGAAGATC 0.463000 10 35 0 0 0.008291 0 0 EPHA6 285220 broad.mit.edu 37 3 96706415 96706415 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:96706415G>A ENST00000389672.5 + 3 730 c.692G>A c.(691-693)gGa>gAa p.G231E EPHA6_ENST00000542517.1_Missense_Mutation_p.G137E|EPHA6_ENST00000470610.2_Missense_Mutation_p.G231E NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 136 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 GAGTCCCACGGAATTAAATTC 0.403000 33 130 0 0 0.013726 0 0 SUGP1 57794 broad.mit.edu 37 19 19420913 19420913 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:19420913G>A ENST00000247001.5 - 3 650 c.303C>T c.(301-303)acC>acT p.T101T SUGP1_ENST00000585763.1_5'UTR|SUGP1_ENST00000334782.5_Silent_p.T101T NM_172231.3 NP_757386.2 Q8IWZ8 SUGP1_HUMAN SURP and G patch domain containing 1 101 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 22 CACCTGTGCTGGTCTGTGCCT 0.527000 15 29 0 0 0.003163 0 0 SERTAD4 56256 broad.mit.edu 37 1 210415615 210415615 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:210415615C>T ENST00000367012.3 + 4 1234 c.1004C>T c.(1003-1005)tCc>tTc p.S335F NM_019605.3 NP_062551.1 Q9NUC0 SRTD4_HUMAN SERTA domain containing 4 335 protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127) TGGAAAAAGTCCTTACGGAAA 0.388000 18 35 0 0 0.006122 0 0 CTSL3P 392360 broad.mit.edu 37 9 90388119 90388119 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:90388119G>A ENST00000354530.2 + 0 190 NR_027917.1 CAAATCTGTGGATTGGAGAGA 0.502000 8 24 0 0 0.004482 0 0 FREM1 158326 broad.mit.edu 37 9 14863874 14863874 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:14863874C>T ENST00000380881.4 - 4 1077 c.262G>A c.(262-264)Gaa>Aaa p.E88K FREM1_ENST00000380880.3_Missense_Mutation_p.E88K|FREM1_ENST00000422223.2_Missense_Mutation_p.E88K Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 88 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding p.E88K(1) breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TACTTGACTTCGTTGGGAAGG 0.413000 11 14 0 0 0.001855 0 0 OR8U1 219417 broad.mit.edu 37 11 56143975 56143975 + Silent SNP C C G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:56143975C>G ENST00000302270.1 + 1 876 c.876C>G c.(874-876)ctC>ctG p.L292L NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) TCTATAGCCTCCAGAATAAGG 0.373000 30 93 0 0 0.006230 0 0 CST11 140880 broad.mit.edu 37 20 23433381 23433381 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:23433381G>A ENST00000377009.3 - 1 101 c.68C>T c.(67-69)cCc>cTc p.P23L CST11_ENST00000377007.3_Missense_Mutation_p.P23L NM_130794.1 NP_570612.1 Q9H112 CST11_HUMAN cystatin 11 23 defense response to bacterium cytoplasm|nucleus cysteine-type endopeptidase inhibitor activity kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 14 Colorectal(13;0.0431)|Lung NSC(19;0.235) TGCTTGGTAGGGGAGGGCCAT 0.512000 17 29 0 0 0.004007 0 0 PABPC3 5042 broad.mit.edu 37 13 25671071 25671071 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:25671071G>A ENST00000281589.3 + 1 772 c.735G>A c.(733-735)caG>caA p.Q245Q NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 245 RRM 3. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) AAGATGCACAGAAAGCTGTAG 0.433000 5 47 0 0 0.000602 0 0 USP29 57663 broad.mit.edu 37 19 57642615 57642615 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:57642615G>A ENST00000254181.4 + 4 3026 c.2572G>A c.(2572-2574)Gat>Aat p.D858N USP29_ENST00000598197.1_Missense_Mutation_p.D858N NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 858 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CACATACAACGATCTATGTGT 0.453000 18 36 0 0 0.007413 0 0 CFHR5 81494 broad.mit.edu 37 1 196953159 196953159 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:196953159G>A ENST00000367414.5 + 3 450 c.394G>A c.(394-396)Gat>Aat p.D132N CFHR5_ENST00000256785.4_Missense_Mutation_p.D108N NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 108 Sushi 2. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 TCTGGAAGGTGATACTGTACA 0.378000 14 30 0 0 0.001855 0 0 SLC27A5 10998 broad.mit.edu 37 19 59010864 59010864 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:59010864G>A ENST00000263093.2 - 7 1771 c.1662C>T c.(1660-1662)acC>acT p.T554T SLC27A5_ENST00000601355.1_Silent_p.T470T NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 554 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity p.T554I(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(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;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) CGGACCGGAAGGTGTCCCCGA 0.657000 22 43 0 0 0.014323 0 0 RPL35 11224 broad.mit.edu 37 9 127620225 127620225 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:127620225G>A ENST00000348462.3 - 4 392 c.344C>T c.(343-345)cCg>cTg p.P115L RPL35_ENST00000373570.4_3'UTR NM_007209.3 NP_009140.1 P42766 RL35_HUMAN ribosomal protein L35 115 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus mRNA binding|protein binding|structural constituent of ribosome breast(1)|large_intestine(1)|lung(1)|ovary(1) 4 GBM - Glioblastoma multiforme(294;0.182) CTTCCGCAGCGGGTACAGCCG 0.592000 10 25 0 0 0.008291 0 0 GHR 2690 broad.mit.edu 37 5 42718801 42718801 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:42718801G>A ENST00000230882.4 + 10 1382 c.1192G>A c.(1192-1194)Gat>Aat p.D398N GHR_ENST00000357703.3_Missense_Mutation_p.D376N|GHR_ENST00000537449.1_Missense_Mutation_p.D211N|GHR_ENST00000513625.1_3'UTR 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 398 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) TCTGGAGACTGATTTCAATGC 0.468000 13 40 0 0 0.003163 0 0 ANPEP 290 broad.mit.edu 37 15 90340908 90340908 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:90340908G>A ENST00000300060.6 - 15 2368 c.2055C>T c.(2053-2055)ttC>ttT p.F685F ANPEP_ENST00000558177.1_5'UTR NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 685 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) CTTCAATCAGGAAGAGGGTGT 0.577000 32 76 0 0 0.006230 0 0 KCNH1 3756 broad.mit.edu 37 1 210857182 210857182 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:210857182G>A ENST00000367007.4 - 11 2499 c.2330C>T c.(2329-2331)tCc>tTc p.S777F KCNH1_ENST00000271751.4_Missense_Mutation_p.S804F NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 804 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CCCGGAGGTGGAGGCTGCCTG 0.672000 24 56 0 0 0.014323 0 0 POTEH 23784 broad.mit.edu 37 22 16279199 16279199 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:16279199C>T ENST00000343518.6 - 4 1075 c.1024G>A c.(1024-1026)Gga>Aga p.G342R NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 342 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 CTATACCTTCCATATCTATCC 0.318000 16 208 0 0 0.006122 0 0 CDC40 51362 broad.mit.edu 37 6 110533353 110533353 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:110533353T>C ENST00000368932.1 + 8 846 c.745T>C c.(745-747)Tat>Cat p.Y249H CDC40_ENST00000368930.1_Missense_Mutation_p.Y249H|CDC40_ENST00000307731.1_Missense_Mutation_p.Y249H|CDC40_ENST00000368933.1_Missense_Mutation_p.Y249H O60508 PRP17_HUMAN cell division cycle 40 249 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) AATGTATGACTATCAAGGCAG 0.328000 16 38 0 0 0.004990 0 0 DSG4 147409 broad.mit.edu 37 18 28991347 28991347 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:28991347G>A ENST00000359747.4 + 14 2377 c.2348G>A c.(2347-2349)gGa>gAa p.G783E DSG4_ENST00000308128.4_Missense_Mutation_p.G764E|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 764 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TCTACCATGGGAACCCTGCGG 0.582000 14 28 0 0 0.001855 0 0 IL17RB 55540 broad.mit.edu 37 3 53883697 53883697 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:53883697G>A ENST00000288167.3 + 3 110 c.101G>A c.(100-102)tGg>tAg p.W34* NM_018725.3 NP_061195.2 Q9NRM6 I17RB_HUMAN interleukin 17 receptor B 34 defense response|regulation of cell growth extracellular region|integral to plasma membrane cytokine receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) TCTCCAGAGTGGATGCTACAA 0.483000 23 103 0 0 0.004656 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883656 228883656 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:228883656G>A ENST00000392056.3 - 7 1960 c.1914C>T c.(1912-1914)gaC>gaT p.D638D SPHKAP_ENST00000344657.5_Silent_p.D638D NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 638 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) AGTCCAGAAAGTCTCCAATGC 0.483000 17 21 0 0 0.004007 0 0 GRIK2 2898 broad.mit.edu 37 6 102307279 102307279 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:102307279G>A ENST00000369138.1 + 10 1925 c.1435G>A c.(1435-1437)Gaa>Aaa p.E479K GRIK2_ENST00000421544.1_Missense_Mutation_p.E479K|GRIK2_ENST00000413795.1_Missense_Mutation_p.E479K|GRIK2_ENST00000318991.6_Missense_Mutation_p.E479K|GRIK2_ENST00000369134.4_Missense_Mutation_p.E430K|GRIK2_ENST00000369137.3_Missense_Mutation_p.E479K NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 479 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) CTTTACATATGAAATTAGACT 0.388000 12 30 0 0 0.013537 0 0 KPRP 448834 broad.mit.edu 37 1 152732846 152732846 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:152732846G>A ENST00000368773.1 + 2 840 c.782G>A c.(781-783)cGg>cAg p.R261Q KPRP_ENST00000606109.1_Missense_Mutation_p.R261Q NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 261 Pro-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCTCCTCGGCGGCTGCAGCTT 0.607000 9 49 0 0 0.004482 0 0 SLC6A11 6538 broad.mit.edu 37 3 10974875 10974875 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:10974875C>T ENST00000254488.2 + 11 1476 c.1410C>T c.(1408-1410)gcC>gcT p.A470A NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 470 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) ACTCCTATGCCGCCAGTGGGA 0.592000 31 182 0 0 0.010818 0 0 POFUT1 23509 broad.mit.edu 37 20 30804488 30804488 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:30804488C>T ENST00000375749.3 + 4 568 c.506C>T c.(505-507)tCc>tTc p.S169F POFUT1_ENST00000486717.1_3'UTR|POFUT1_ENST00000375730.3_Missense_Mutation_p.S169F|POFUT1_ENST00000539210.1_Intron NM_015352.1 NP_056167.1 Q9H488 OFUT1_HUMAN protein O-fucosyltransferase 1 169 fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent endoplasmic reticulum|membrane peptide-O-fucosyltransferase activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1) 6 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) ACAGGCATTTCCTTCAGTGCT 0.507000 30 66 0 0 0.012213 0 0 CDR1 1038 broad.mit.edu 37 X 139866204 139866204 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:139866204C>T ENST00000370532.2 - 1 519 c.328G>A c.(328-330)Gat>Aat p.D110N NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 110 23 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) TCCAAAAAATCCGGGTCTTCC 0.453000 39 10 0 0 0.005524 0 0 ARPP21 10777 broad.mit.edu 37 3 35770852 35770852 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:35770852C>T ENST00000187397.4 + 15 1739 c.1283C>T c.(1282-1284)cCt>cTt p.P428L ARPP21_ENST00000458225.1_Missense_Mutation_p.P394L|ARPP21_ENST00000337271.5_Missense_Mutation_p.P374L|ARPP21_ENST00000417925.1_Missense_Mutation_p.P394L|ARPP21_ENST00000444190.1_Missense_Mutation_p.P374L NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 428 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 ACCCATCCACCTCTCCAGAGC 0.567000 31 57 0 0 0.013726 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872921 51872921 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:51872921C>T ENST00000371497.5 + 2 3811 c.2924C>T c.(2923-2925)tCg>tTg p.S975L TSHZ2_ENST00000329613.6_Missense_Mutation_p.S972L|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.S972L NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 975 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TCCCGGGTATCGTCGGCTCAG 0.493000 9 33 0 0 0.006214 0 0 SATB1 6304 broad.mit.edu 37 3 18393508 18393508 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:18393508G>A ENST00000338745.6 - 10 3489 c.1755C>T c.(1753-1755)atC>atT p.I585I SATB1_ENST00000454909.2_Silent_p.I585I|SATB1_ENST00000417717.2_Silent_p.I585I|TBC1D5_ENST00000414318.2_Intron NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 585 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 CTGGAACATGGATAATGTGGG 0.463000 37 86 0 0 0.013114 0 0 TSGA10IP 254187 broad.mit.edu 37 11 65715223 65715223 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:65715223G>A ENST00000532620.1 + 0 1158 Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein endometrium(2)|kidney(3)|lung(9) 14 AATGGAGGAAGACAAGGGCCA 0.617000 3 5 0 0 0.004672 0 0 EPS8L3 79574 broad.mit.edu 37 1 110294795 110294795 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:110294795C>T ENST00000369805.3 - 15 1488 c.1259G>A c.(1258-1260)gGg>gAg p.G420E EPS8L3_ENST00000361965.4_Missense_Mutation_p.G419E|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Intron NM_133181.3|NM_139053.2 NP_573444.2|NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8-like 3 419 cytoplasm protein binding breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) TGAGGTGCTCCCTAACCTATG 0.582000 75 134 0 0 0.014410 0 0 KDM3A 55818 broad.mit.edu 37 2 86709633 86709633 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:86709633C>T ENST00000409556.1 + 19 3103 c.2738C>T c.(2737-2739)tCt>tTt p.S913F KDM3A_ENST00000542128.1_Missense_Mutation_p.S861F|KDM3A_ENST00000312912.5_Missense_Mutation_p.S913F|KDM3A_ENST00000409064.1_Missense_Mutation_p.S913F Q9Y4C1 KDM3A_HUMAN lysine (K)-specific demethylase 3A 913 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 47 ATCTTTGCCTCTTTGGTGCAA 0.403000 10 74 0 0 0.010729 0 0 AKR1D1 6718 broad.mit.edu 37 7 137790062 137790062 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:137790062G>A ENST00000242375.3 + 5 508 c.466G>A c.(466-468)Gct>Act p.A156T AKR1D1_ENST00000411726.2_Intron|AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000432161.1_Missense_Mutation_p.A156T NM_005989.3 NP_005980.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 156 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 GGCGATGGAAGCTTGCAAAGA 0.463000 55 77 0 0 0.014410 0 0 DSCAML1 57453 broad.mit.edu 37 11 117299164 117299164 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:117299164C>T ENST00000321322.6 - 33 6223 c.6222G>A c.(6220-6222)ggG>ggA p.G2074G DSCAML1_ENST00000527706.1_Silent_p.G1804G NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 2014 axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) TGTGTGGGCCCCCGGCTCGTG 0.736000 7 9 0 0 0.004482 0 0 PLXNB2 23654 broad.mit.edu 37 22 50722331 50722331 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:50722331G>A ENST00000449103.1 - 14 2492 c.2352C>T c.(2350-2352)ggC>ggT p.G784G PLXNB2_ENST00000359337.4_Silent_p.G784G|PLXNB2_ENST00000496720.1_5'UTR O15031 PLXB2_HUMAN plexin B2 784 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) ACCTGCTCTGGCCCCCGCACC 0.672000 4 3 0 0 0.009096 0 0 TRAV21 28662 broad.mit.edu 37 14 22521032 22521032 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:22521032G>A ENST00000390449.3 + 0 60 ACAGGGGTGAGCAGCAAACAG 0.408000 44 54 0 0 0.014410 0 0 WNT2 7472 broad.mit.edu 37 7 116937698 116937698 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:116937698G>A ENST00000265441.3 - 4 1120 c.821C>T c.(820-822)tCt>tTt p.S274F NM_003391.2 NP_003382.1 P09544 WNT2_HUMAN wingless-type MMTV integration site family member 2 274 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) GTAGTCTGGAGAATTCTCAAA 0.413000 22 36 0 0 0.003954 0 0 OR2T6 254879 broad.mit.edu 37 1 248551306 248551306 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:248551306C>T ENST00000355728.2 + 1 397 c.397C>T c.(397-399)Cct>Tct p.P133S NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 133 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 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) ACTGCGCTATCCTGTCCTCAT 0.562000 17 50 0 0 0.004007 0 0 KLHL32 114792 broad.mit.edu 37 6 97562253 97562253 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:97562253G>A ENST00000369261.4 + 7 1585 c.1222G>A c.(1222-1224)Gaa>Aaa p.E408K KLHL32_ENST00000536676.1_Missense_Mutation_p.E372K|KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000539200.1_Missense_Mutation_p.E339K NM_052904.3 NP_443136.2 Q96NJ5 KLH32_HUMAN kelch-like family member 32 408 breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) GGGCAGAAATGAACTGCGCCA 0.498000 5 46 0 0 0.001168 0 0 SRRM4 84530 broad.mit.edu 37 12 119583234 119583234 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:119583234C>T ENST00000267260.4 + 9 1208 c.820C>T c.(820-822)Ccg>Tcg p.P274S NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 274 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 AACAGCCAGCCCGCTCACCAC 0.612000 3 6 0 0 0.004672 0 0 EDEM1 9695 broad.mit.edu 37 3 5241372 5241372 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:5241372C>T ENST00000256497.4 + 3 811 c.678C>T c.(676-678)gcC>gcT p.A226A EDEM1_ENST00000445686.1_Silent_p.A31A NM_014674.2 NP_055489.1 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 1 226 ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) TCTTTGAGGCCACGATAAGGT 0.343000 10 22 0 0 0.006214 0 0 CASR 846 broad.mit.edu 37 3 122003444 122003444 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:122003444C>T ENST00000498619.1 + 7 3111 c.2673C>T c.(2671-2673)ttC>ttT p.F891F CASR_ENST00000296154.5_Silent_p.F881F|CASR_ENST00000490131.1_Silent_p.F881F NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 881 Interaction with RNF19A. anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CTCACGCTTTCAAGGTGGCTG 0.617000 9 10 0 0 0.008291 0 0 SMR3A 26952 broad.mit.edu 37 4 71232694 71232694 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:71232694C>T ENST00000226460.4 + 3 484 c.388C>T c.(388-390)Cct>Tct p.P130S NM_012390.3 NP_036522.3 Q99954 SMR3A_HUMAN submaxillary gland androgen regulated protein 3A 130 Pro-rich. extracellular region endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4) 15 all_hematologic(202;0.196) TCCTGCCCTCCCTACTCCTGC 0.493000 5 23 0 0 0.001168 0 0 C16orf45 89927 broad.mit.edu 37 16 15528612 15528612 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:15528612G>A ENST00000300006.4 + 1 461 c.102G>A c.(100-102)ggG>ggA p.G34G C16orf45_ENST00000566490.1_Silent_p.G34G|RP11-1021N1.1_ENST00000568222.1_3'UTR NM_033201.2 NP_149978.1 Q96MC5 CP045_HUMAN chromosome 16 open reading frame 45 34 MELKQSLSTHLEAEKPLRRYGAVEETAWKTERLGRN -> M WGDLTETGCMGRRSAKKD (in Ref. 3; AAH23603). endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1) 11 AGAGACTGGGGAGAAGTGAGT 0.652000 14 37 0 0 0.003163 0 0 SCN3A 6328 broad.mit.edu 37 2 165947098 165947098 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:165947098G>A ENST00000360093.3 - 28 6056 c.5565C>T c.(5563-5565)gcC>gcT p.A1855A SCN3A_ENST00000409101.3_Silent_p.A1806A|SCN3A_ENST00000540861.1_Silent_p.A338A|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Silent_p.A1855A NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1855 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) GCTTTGTAAAGGCAAATAAAA 0.458000 25 29 0 0 0.003954 0 0 MED12L 116931 broad.mit.edu 37 3 151073805 151073805 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:151073805G>A ENST00000474524.1 + 17 2572 c.2534G>A c.(2533-2535)gGa>gAa p.G845E MED12L_ENST00000491549.1_3'UTR|P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.G705E NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 845 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AACATCAACGGACTAATTGAC 0.428000 12 27 0 0 0.013537 0 0 TEX15 56154 broad.mit.edu 37 8 30694351 30694351 + Missense_Mutation SNP C C T rs112222282 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:30694351C>T ENST00000256246.2 - 3 8374 c.8300G>A c.(8299-8301)cGa>cAa p.R2767Q NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2767 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AGGCACAAATCGATTAGGAAG 0.378000 17 19 0 0 0.008871 0 0 CLCNKA 1187 broad.mit.edu 37 1 16355340 16355340 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:16355340G>A ENST00000375692.1 + 12 1181 c.1053_splice c.e12+1 p.R351_splice CLCNKA_ENST00000331433.4_Splice_Site_p.R351_splice|CLCNKA_ENST00000439316.2_Splice_Site_p.R308_splice|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Splice_Site_p.R351_splice P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 351 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) TAGCTTCTCGGGTAAGGGGTC 0.617000 30 48 0 0 0.003271 0 0 FAM129A 116496 broad.mit.edu 37 1 184764240 184764240 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:184764240G>A ENST00000367511.3 - 14 2851 c.2658C>T c.(2656-2658)gcC>gcT p.A886A FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 886 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 CATGAATACGGGCTACCTTGA 0.562000 41 75 0 0 0.008740 0 0 GRXCR2 643226 broad.mit.edu 37 5 145246183 145246183 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:145246183C>T ENST00000377976.1 - 2 444 c.445G>A c.(445-447)Gaa>Aaa p.E149K NM_001080516.1 NP_001073985.1 A6NFK2 GRCR2_HUMAN glutaredoxin, cysteine rich 2 149 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 GCCTCCTCTTCCTTCTGGAGA 0.418000 14 43 0 0 0.002450 0 0 IL1A 3552 broad.mit.edu 37 2 113537166 113537166 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:113537166C>T ENST00000263339.3 - 5 552 c.397G>A c.(397-399)Gaa>Aaa p.E133K NM_000575.3 NP_000566.3 P01583 IL1A_HUMAN interleukin 1, alpha 133 anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion cytosol|extracellular space copper ion binding|cytokine activity|interleukin-1 receptor binding breast(2)|large_intestine(1)|lung(9) 12 AGGATGAATTCGTATTTGATG 0.403000 12 35 0 0 0.013537 0 0 AKAP7 9465 broad.mit.edu 37 6 131466437 131466437 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:131466437C>T ENST00000431975.2 + 2 130 c.32C>T c.(31-33)tCc>tTc p.S11F AKAP7_ENST00000366358.2_3'UTR|AKAP7_ENST00000541650.1_Missense_Mutation_p.S10F NM_016377.3 NP_057461.2 O43687 AKA7A_HUMAN A kinase (PRKA) anchor protein 7 0 Required for membrane localization. intracellular signal transduction|ion transport apical plasma membrane|intracellular|lateral plasma membrane protein kinase A binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1) 13 Breast(56;0.152) GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345) GGAATTAATTCCAATGAGTGT 0.303000 9 13 0 0 0.004482 0 0 PPM1F 9647 broad.mit.edu 37 22 22285612 22285612 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:22285612G>A ENST00000407142.1 - 4 1355 c.295C>T c.(295-297)Ctg>Ttg p.L99L PPM1F_ENST00000263212.5_Silent_p.L267L|PPM1F_ENST00000538191.1_Silent_p.L163L|PPM1F_ENST00000397495.4_Silent_p.L267L P49593 PPM1F_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1F 267 apoptosis|protein dephosphorylation protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 12 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.155) GCGACGTGCAGGGTCGCTCCT 0.622000 24 43 0 0 0.005443 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136307852 136307852 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:136307852C>T ENST00000371929.3 + 18 2666 c.2222C>T c.(2221-2223)cCc>cTc p.P741L ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.P741L|ADAMTS13_ENST00000536611.1_Intron|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.P710L NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 741 cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GTGCTCGAACCCTGCCCTCCC 0.662000 6 27 0 0 0.001984 0 0 CD1C 911 broad.mit.edu 37 1 158263016 158263016 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:158263016A>G ENST00000368170.3 + 5 1183 c.904A>G c.(904-906)Atg>Gtg p.M302V NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 302 antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) CCACTTTTCCATGAATTGGAT 0.378000 48 122 0 0 0.014410 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83400549 83400549 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb 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 7 5 0 0 0.001984 0 0 SLC14A2 8170 broad.mit.edu 37 18 43204774 43204774 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:43204774G>A ENST00000255226.6 + 2 961 c.145G>A c.(145-147)Gaa>Aaa p.E49K SLC14A2_ENST00000586448.1_Missense_Mutation_p.E49K NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 49 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 AATGCCTGAAGAAAAGGTGAG 0.557000 14 34 0 0 0.004990 0 0 MMP13 4322 broad.mit.edu 37 11 102819836 102819836 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:102819836C>T ENST00000260302.3 - 7 997 c.969G>A c.(967-969)acG>acA p.T323T MMP13_ENST00000340273.4_Silent_p.T323T NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 323 Hemopexin-like 1. collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) AAAATGATTTCGTTAAAAACA 0.423000 13 29 0 0 0.013537 0 0 DNAH9 1770 broad.mit.edu 37 17 11666923 11666923 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:11666923C>T ENST00000262442.3 + 36 7230 c.7162C>T c.(7162-7164)Caa>Taa p.Q2388* DNAH9_ENST00000454412.2_Nonsense_Mutation_p.Q2388* NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2388 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) AGCAATGGTCCAAGATCAGGT 0.463000 10 14 0 0 0.006214 0 0 COL14A1 7373 broad.mit.edu 37 8 121209076 121209076 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:121209076C>T ENST00000297848.3 + 6 753 c.483C>T c.(481-483)atC>atT p.I161I COL14A1_ENST00000537875.1_Silent_p.I161I|COL14A1_ENST00000247781.3_Silent_p.I161I|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.I161I NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 161 VWFA 1. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) ACATTGTAATCCTGGTCGATG 0.428000 29 67 0 0 0.009535 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711558 155711558 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:155711558C>T ENST00000295101.2 + 3 1716 c.1239C>T c.(1237-1239)ccC>ccT p.P413P KCNJ3_ENST00000544049.1_3'UTR NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 413 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) AAGACTTTCCCAAAAAACTCT 0.388000 24 60 0 0 0.014323 0 0 TFR2 7036 broad.mit.edu 37 7 100238703 100238703 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:100238703G>A ENST00000462107.1 - 3 469 c.182C>T c.(181-183)cCc>cTc p.P61L TFR2_ENST00000223051.3_Missense_Mutation_p.P61L|TFR2_ENST00000431692.1_Missense_Mutation_p.P61L Q9UP52 TFR2_HUMAN transferrin receptor 2 61 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) AGAGCCCAGGGGCTCAGGGCC 0.677000 9 11 0 0 0.004482 0 0 TKTL1 8277 broad.mit.edu 37 X 153556195 153556195 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:153556195C>T ENST00000369915.3 + 12 1698 c.1509C>T c.(1507-1509)atC>atT p.I503I TKTL1_ENST00000369912.2_Silent_p.I447I|TKTL1_ENST00000217905.7_Silent_p.I243I|TKTL1_ENST00000482044.1_3'UTR NM_001145933.1|NM_012253.3 NP_001139405.1|NP_036385.3 P51854 TKTL1_HUMAN transketolase-like 1 503 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2) 34 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ATATTTTTATCCGTGTCATCG 0.453000 68 40 0 0 0.014410 0 0 MRAP2 112609 broad.mit.edu 37 6 84799011 84799011 + Silent SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:84799011A>G ENST00000257776.4 + 4 564 c.429A>G c.(427-429)caA>caG p.Q143Q NM_138409.2 NP_612418.2 Q96G30 MRAP2_HUMAN melanocortin 2 receptor accessory protein 2 143 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 19 GTGACGTCCAACTCCAGGAAG 0.522000 19 57 0 0 0.007413 0 0 ERC2 26059 broad.mit.edu 37 3 56330247 56330247 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:56330247C>T ENST00000288221.6 - 3 1129 c.874G>A c.(874-876)Gaa>Aaa p.E292K NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 292 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TTCTGCGTTTCAATTCTCAGC 0.468000 46 326 0 0 0.014410 0 0 ARHGAP22 58504 broad.mit.edu 37 10 49687790 49687790 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:49687790C>T ENST00000249601.4 - 4 636 c.340G>A c.(340-342)Gag>Aag p.E114K ARHGAP22_ENST00000374170.1_Missense_Mutation_p.E24K|ARHGAP22_ENST00000374172.1_5'UTR|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.E120K|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.E24K|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.E114K NM_001256024.1|NM_021226.3 NP_001242953.1|NP_067049.2 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 22 114 PH. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GGCACCTTCTCCCGCTCCCCG 0.677000 6 8 0 0 0.001168 0 0 AMPD3 272 broad.mit.edu 37 11 10506453 10506453 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:10506453G>A ENST00000444303.2 + 4 671 c.199G>A c.(199-201)Ggg>Agg p.G67R AMPD3_ENST00000396554.3_Missense_Mutation_p.G235R NM_001172431.1 NP_001165902.1 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 226 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) CCACATGCAGGGGGGCATCCT 0.572000 43 48 0 0 0.014410 0 0 BLNK 29760 broad.mit.edu 37 10 97976457 97976457 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:97976457C>T ENST00000224337.5 - 7 700 c.559G>A c.(559-561)Gaa>Aaa p.E187K BLNK_ENST00000371176.2_Missense_Mutation_p.E187K|BLNK_ENST00000413476.2_Missense_Mutation_p.E187K|BLNK_ENST00000427367.2_Missense_Mutation_p.E187K NM_013314.3 NP_037446.1 Q8WV28 BLNK_HUMAN B-cell linker 187 Pro-rich. B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1) 14 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) ATATAGTTTTCATCATTATCT 0.398000 7 15 0 0 0.003080 0 0 LTBP2 4053 broad.mit.edu 37 14 75017968 75017968 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:75017968C>T ENST00000261978.4 - 7 1871 c.1485G>A c.(1483-1485)cgG>cgA p.R495R LTBP2_ENST00000557425.1_5'UTR|LTBP2_ENST00000556690.1_Silent_p.R495R NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 495 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CCACCCCGCCCCGCACCTGGG 0.682000 10 5 0 0 0.008291 0 0 TRABD2A 129293 broad.mit.edu 37 2 85097394 85097394 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:85097394C>T ENST00000335459.5 - 2 829 c.624G>A c.(622-624)aaG>aaA p.K208K TRABD2A_ENST00000409133.1_Silent_p.K208K|TRABD2A_ENST00000409520.2_Silent_p.K208K NM_001080824.1 NP_001074293.1 TraB domain containing 2A GCTCTTCCACCTTTTCCACTG 0.488000 40 146 0 0 0.014410 0 0 SYNJ2 8871 broad.mit.edu 37 6 158514020 158514020 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:158514020G>A ENST00000355585.4 + 26 3703 c.3628G>A c.(3628-3630)Gag>Aag p.E1210K SYNJ2_ENST00000367112.1_Missense_Mutation_p.E295K|SYNJ2_ENST00000367122.2_Missense_Mutation_p.E1165K|SYNJ2_ENST00000367121.3_Missense_Mutation_p.E1210K NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 1210 Pro-rich. nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CTCTGAACCAGAGCCCACACC 0.597000 11 45 0 0 0.008291 0 0 ZNF516 9658 broad.mit.edu 37 18 74091392 74091392 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:74091392C>T ENST00000443185.2 - 4 2995 c.2678G>A c.(2677-2679)gGc>gAc p.G893D ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 893 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) TGGCTCCTGGCCGTGACAAGG 0.682000 29 40 0 0 0.008361 0 0 GJA1 2697 broad.mit.edu 37 6 121768626 121768626 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:121768626C>T ENST00000282561.3 + 2 790 c.633C>T c.(631-633)atC>atT p.I211I NM_000165.3 NP_000156.1 P17302 CXA1_HUMAN gap junction protein, alpha 1, 43kDa 211 cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2) 33 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) TCTTCATCATCTTCATGCTGG 0.483000 48 81 0 0 0.014410 0 0 CDC14B 8555 broad.mit.edu 37 9 99286000 99286000 + Silent SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:99286000A>T ENST00000375241.1 - 10 1405 c.954T>A c.(952-954)ctT>ctA p.L318L CDC14B_ENST00000265659.2_Silent_p.L318L|CDC14B_ENST00000375240.3_Silent_p.L318L|CDC14B_ENST00000375236.1_Silent_p.L318L|CDC14B_ENST00000463569.1_Silent_p.L318L|CDC14B_ENST00000375242.3_Silent_p.L281L NM_003671.3|NM_033331.2 NP_003662.1|NP_201588.1 O60729 CC14B_HUMAN cell division cycle 14B 318 B. activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint nucleolus|nucleoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 15 Acute lymphoblastic leukemia(62;0.0559) CCGTGCGACCAAGGCCAGCTA 0.493000 4 19 0 0 0.000602 0 0 C9orf152 401546 broad.mit.edu 37 9 112963499 112963499 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:112963499C>T ENST00000400613.4 - 2 1058 c.449G>A c.(448-450)aGg>aAg p.R150K C9orf152_ENST00000473442.1_Intron NM_001012993.2 NP_001013011.2 Q5JTZ5 CI152_HUMAN chromosome 9 open reading frame 152 150 NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 AGGAGGGAGCCTTTGATCAGA 0.542000 23 116 0 0 0.004656 0 0 UGT1A10 54575 broad.mit.edu 37 2 234546024 234546024 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:234546024G>A ENST00000344644.5 + 1 924 c.e1+1 UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Splice_Site NM_019075.2 NP_061948.1 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3) 32 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) ATTGCCTATGGTAAGTCACCT 0.403000 37 60 0 0 0.006999 0 0 LIPG 9388 broad.mit.edu 37 18 47110052 47110052 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:47110052G>A ENST00000261292.4 + 8 1562 c.1284G>A c.(1282-1284)aaG>aaA p.K428K LIPG_ENST00000427224.2_Silent_p.K354K NM_006033.2 NP_006024.1 Q9Y5X9 LIPE_HUMAN lipase, endothelial 428 PLAT. cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 ACCTGTGGAAGGAGTTTCGCA 0.587000 8 28 0 0 0.003080 0 0 DRC1 92749 broad.mit.edu 37 2 26676293 26676293 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:26676293G>A ENST00000288710.2 + 14 1869 c.1795G>A c.(1795-1797)Gaa>Aaa p.E599K NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) gggagaaaaggaagaaagcct 0.582000 15 29 0 0 0.002450 0 0 KSR2 283455 broad.mit.edu 37 12 117914306 117914306 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:117914306G>A ENST00000425217.1 - 17 2512 c.2458C>T c.(2458-2460)Ctc>Ttc p.L820F KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.L849F NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 849 Protein kinase. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GAGAAGGGGAGCTTATCCTCC 0.612000 10 5 0 0 0.008291 0 0 TNNT1 7138 broad.mit.edu 37 19 55649424 55649424 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:55649424C>T ENST00000588981.1 - 10 610 c.406G>A c.(406-408)Gaa>Aaa p.E136K TNNT1_ENST00000585321.2_Missense_Mutation_p.E66K|TNNT1_ENST00000356783.5_Missense_Mutation_p.E125K|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000291901.8_Missense_Mutation_p.E136K|TNNT1_ENST00000536926.1_Missense_Mutation_p.E125K|TNNT1_ENST00000587758.1_Missense_Mutation_p.E125K|TNNT1_ENST00000587465.2_Missense_Mutation_p.E66K|TNNT1_ENST00000588426.1_Missense_Mutation_p.E33K NM_003283.4 NP_003274.3 P13805 TNNT1_HUMAN troponin T type 1 (skeletal, slow) 136 muscle filament sliding|negative regulation of muscle contraction cytosol|troponin complex tropomyosin binding endometrium(2)|kidney(3)|lung(4)|ovary(1) 10 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.047) TCTTCCTCTTCCTTCCTCATC 0.567000 14 50 0 0 0.004007 0 0 CES5A 221223 broad.mit.edu 37 16 55880749 55880749 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:55880749C>T ENST00000521992.1 - 13 1659 c.1514G>A c.(1513-1515)gGa>gAa p.G505E CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000520435.1_Missense_Mutation_p.G446E|CES5A_ENST00000518005.1_Missense_Mutation_p.G370E|CES5A_ENST00000319165.9_Missense_Mutation_p.G426E|CES5A_ENST00000290567.9_Missense_Mutation_p.G476E NM_001190158.1 NP_001177087.1 Q6NT32 EST5A_HUMAN carboxylesterase 5A 476 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 CTCCGTGGCTCCTTCTGAAGG 0.537000 56 70 0 0 0.014410 0 0 RABEP2 79874 broad.mit.edu 37 16 28925752 28925752 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:28925752G>A ENST00000358201.4 - 5 1287 c.699C>T c.(697-699)tcC>tcT p.S233S RABEP2_ENST00000544477.1_Silent_p.S162S|RABEP2_ENST00000357573.6_Silent_p.S233S NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 233 endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 AGGAGGAGATGGAGGCGCTGT 0.687000 12 16 0 0 0.013537 0 0 CALCR 799 broad.mit.edu 37 7 93108777 93108777 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:93108777G>A ENST00000359558.2 - 5 447 c.148C>T c.(148-150)Cca>Tca p.P50S CALCR_ENST00000394441.1_Missense_Mutation_p.P32S|CALCR_ENST00000421592.1_Missense_Mutation_p.P32S|CALCR_ENST00000360249.4_Missense_Mutation_p.P32S|CALCR_ENST00000426151.1_Missense_Mutation_p.P32S NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 32 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) TCTATTGTTGGATAGGTTTGA 0.413000 33 68 0 0 0.010818 0 0 CLDN25 644672 broad.mit.edu 37 11 113650664 113650664 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:113650664G>A ENST00000453129.2 + 1 196 c.147G>A c.(145-147)ggG>ggA p.G49G NM_001101389.1 NP_001094859.1 C9JDP6 CLD25_HUMAN claudin 25 49 integral to membrane|tight junction structural molecule activity large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2) 10 GGATCATGGGGATTTGGGAGG 0.567000 22 54 0 0 0.014323 0 0 GTF3C2 2976 broad.mit.edu 37 2 27560827 27560827 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:27560827G>A ENST00000359541.2 - 5 1345 c.916C>T c.(916-918)Cct>Tct p.P306S AC109828.1_ENST00000589853.1_RNA|AC109828.1_ENST00000589232.1_RNA|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000587586.1_RNA|AC109828.1_ENST00000590383.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.P306S Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 2, beta 110kDa 306 transcription factor TFIIIC complex central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 38 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTCCAAACAGGAGCCATGATA 0.483000 101 165 0 0 0.014410 0 0 UCKL1 54963 broad.mit.edu 37 20 62571990 62571990 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:62571990C>T ENST00000369908.5 - 12 1513 c.1214G>A c.(1213-1215)gGc>gAc p.G405D UCKL1_ENST00000354216.6_Missense_Mutation_p.G420D|UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000369892.3_Missense_Mutation_p.G420D NM_001193379.1 NP_001180308.1 Q9NWZ5 UCKL1_HUMAN uridine-cytidine kinase 1-like 1 420 interspecies interaction between organisms endoplasmic reticulum|nucleus ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) GAGGATGGTGCCGATGCGCAC 0.677000 10 16 0 0 0.006214 0 0 SV2C 22987 broad.mit.edu 37 5 75596681 75596681 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:75596681G>A ENST00000502798.2 + 11 2206 c.1764G>A c.(1762-1764)ctG>ctA p.L588L RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Silent_p.L588L NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 588 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) TCAACTTTCTGGGGACATTGG 0.408000 27 42 0 0 0.004656 0 0 ROR1 4919 broad.mit.edu 37 1 64624850 64624850 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:64624850C>T ENST00000371079.1 + 8 1736 c.1361C>T c.(1360-1362)tCa>tTa p.S454L RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000545203.1_5'UTR NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 454 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 GTAGAGATGTCAATGCTGAAT 0.448000 19 35 0 0 0.010504 0 0 COL19A1 1310 broad.mit.edu 37 6 70840075 70840075 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:70840075G>A ENST00000322773.4 + 18 1445 c.1341_splice c.e18-1 p.G448_splice COL19A1_ENST00000393344.1_Splice_Site_p.G70_splice NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 448 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 CACCCCTAGGGAAATGATGAA 0.363000 6 11 0 0 0.001984 0 0 SPTB 6710 broad.mit.edu 37 14 65249076 65249076 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:65249076C>T ENST00000389722.3 - 19 4251 c.4198G>A c.(4198-4200)Gac>Aac p.D1400N SPTB_ENST00000542895.1_Missense_Mutation_p.D1400N|SPTB_ENST00000389720.3_Missense_Mutation_p.D1400N|SPTB_ENST00000389721.5_Missense_Mutation_p.D1400N|SPTB_ENST00000556626.1_Missense_Mutation_p.D1400N NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1400 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) CGCAGCTGGTCCTCCATGGCG 0.587000 40 45 0 0 0.008740 0 0 ELSPBP1 64100 broad.mit.edu 37 19 48523091 48523091 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:48523091G>A ENST00000339841.2 + 5 649 c.471G>A c.(469-471)gaG>gaA p.E157E ELSPBP1_ENST00000597519.1_Intron NM_022142.4 NP_071425.3 Q96BH3 ESPB1_HUMAN epididymal sperm binding protein 1 157 Fibronectin type-II 3. single fertilization extracellular region NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6) 10 all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606) CAACCACAGAGAACATGGATA 0.502000 15 30 0 0 0.006122 0 0 LYST 1130 broad.mit.edu 37 1 235972605 235972605 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:235972605C>T ENST00000389794.3 - 5 1687 c.1513G>A c.(1513-1515)Gaa>Aaa p.E505K LYST_ENST00000536965.1_Missense_Mutation_p.E505K|LYST_ENST00000389793.2_Missense_Mutation_p.E505K Q99698 LYST_HUMAN lysosomal trafficking regulator 505 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TGAGAATATTCACATCGTCTG 0.373000 22 55 0 0 0.003330 0 0 STK36 27148 broad.mit.edu 37 2 219561890 219561890 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:219561890C>T ENST00000295709.3 + 23 2994 c.2715C>T c.(2713-2715)tcC>tcT p.S905S STK36_ENST00000392106.2_Silent_p.S884S|STK36_ENST00000392105.3_Silent_p.S884S|STK36_ENST00000440309.1_Silent_p.S905S NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 905 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding p.S905S(1) biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) TTTCGCTATCCAGTCCACCAA 0.527000 25 91 0 0 0.003954 0 0 NCAN 1463 broad.mit.edu 37 19 19327836 19327836 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:19327836G>A ENST00000252575.5 + 2 116 c.e2+1 NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) GGGGAACAGGGTGAGTTGGTT 0.567000 37 82 0 0 0.004289 0 0 CSMD2 114784 broad.mit.edu 37 1 34312485 34312485 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:34312485C>T ENST00000373381.4 - 6 1209 c.1033_splice c.e6+1 p.V345_splice NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 305 Sushi 2. 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) ACCTGCCTACCTTGGTATTGG 0.612000 14 44 0 0 0.003163 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72520494 72520494 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:72520494G>A ENST00000373208.1 + 22 3566 c.3566G>A c.(3565-3567)gGg>gAg p.G1189E ADAMTS14_ENST00000373207.1_Missense_Mutation_p.G1186E NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 1186 Pro-rich. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 ACCCCCGGGGGGCTGCCTTGG 0.642000 8 25 0 0 0.004482 0 0 TST 7263 broad.mit.edu 37 22 37407092 37407092 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:37407092G>A ENST00000403892.3 - 2 1604 c.870C>T c.(868-870)tcC>tcT p.S290S TST_ENST00000249042.3_Silent_p.S290S NM_001270483.1 NP_001257412.1 Q16762 THTR_HUMAN thiosulfate sulfurtransferase (rhodanese) 290 cyanate catabolic process|rRNA transport mitochondrial matrix|plasma membrane 5S rRNA binding|thiosulfate sulfurtransferase activity kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1) 7 ACTTTCCCTGGGACACACGGC 0.602000 24 58 0 0 0.010818 0 0 ASXL3 80816 broad.mit.edu 37 18 31325888 31325888 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:31325888C>T ENST00000269197.5 + 12 6076 c.6076C>T c.(6076-6078)Cct>Tct p.P2026S NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 2026 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 tccccctccccctccaccctt 0.592000 3 3 0 0 0.004672 0 0 FBXL12 54850 broad.mit.edu 37 19 9922366 9922366 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9922366G>A ENST00000247977.4 - 3 428 c.187C>T c.(187-189)Ctt>Ttt p.L63F FBXL12_ENST00000586469.1_Silent_p.S38S|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000591009.1_Missense_Mutation_p.L10F|FBXL12_ENST00000585379.1_Missense_Mutation_p.L10F|FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000592067.1_3'UTR|FBXL12_ENST00000586651.1_3'UTR NM_017703.1 NP_060173.1 Q9NXK8 FXL12_HUMAN F-box and leucine-rich repeat protein 12 63 L -> H (found in a renal cell carcinoma case; somatic mutation). protein binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2) 10 TACCTTCGAAGGAGGTGCCAC 0.592000 15 25 0 0 0.002450 0 0 TRPM1 4308 broad.mit.edu 37 15 31294043 31294043 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:31294043G>A ENST00000542188.1 - 27 5224 c.4911C>T c.(4909-4911)tcC>tcT p.S1637S TRPM1_ENST00000256552.6_Silent_p.S1620S|TRPM1_ENST00000397795.2_Silent_p.S1598S NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 1598 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) CAGTTTCTGTGGAAGCTTTCT 0.358000 6 17 0 0 0.001168 0 0 FMO1 2326 broad.mit.edu 37 1 171227251 171227251 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:171227251G>A ENST00000354841.4 + 1 156 c.25G>A c.(25-27)Gga>Aga p.G9R FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.G9R|FMO1_ENST00000367750.3_Missense_Mutation_p.G9R Q01740 FMO1_HUMAN flavin containing monooxygenase 1 9 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGCCATTGTGGGAGCTGGGGT 0.577000 33 43 0 0 0.009535 0 0 KCNG1 3755 broad.mit.edu 37 20 49620806 49620806 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:49620806G>A ENST00000371571.4 - 3 1597 c.1312C>T c.(1312-1314)Cag>Tag p.Q438* RP5-955M13.3_ENST00000506387.1_RNA|RP5-955M13.4_ENST00000424566.1_RNA NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 438 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GCCACTACCTGGCCCGGGGTG 0.632000 19 49 0 0 0.002780 0 0 UNC79 57578 broad.mit.edu 37 14 93994983 93994983 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:93994983G>A ENST00000553484.1 + 9 1197 c.1043G>A c.(1042-1044)aGg>aAg p.R348K UNC79_ENST00000555664.1_Missense_Mutation_p.R348K|UNC79_ENST00000393151.2_Missense_Mutation_p.R348K|UNC79_ENST00000256339.4_Missense_Mutation_p.R171K Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 348 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 TGCAGCGAGAGGATTGCAGGG 0.378000 15 28 0 0 0.004007 0 0 EMB 133418 broad.mit.edu 37 5 49701599 49701599 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:49701599G>A ENST00000303221.5 - 5 775 c.560C>T c.(559-561)cCt>cTt p.P187L EMB_ENST00000514111.1_Missense_Mutation_p.P137L|EMB_ENST00000508934.1_Missense_Mutation_p.P133L|EMB_ENST00000506190.1_5'UTR NM_198449.2 NP_940851.1 Q6PCB8 EMB_HUMAN embigin 187 Ig-like V-type 2. integral to membrane breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) CCAATTTAAAGGAAAACAATT 0.328000 14 23 0 0 0.004007 0 0 TTN 7273 broad.mit.edu 37 2 179584851 179584851 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179584851C>T ENST00000589042.1 - 81 23742 c.23518G>A c.(23518-23520)Gaa>Aaa p.E7840K TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E6596K|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E7523K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7523 Ig-like 60. 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) CTGGTATTTTCACTCTCTCTG 0.433000 27 39 0 0 0.009535 0 0 IRF5 3663 broad.mit.edu 37 7 128588051 128588051 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:128588051C>T ENST00000402030.2 + 7 1080 c.1008C>T c.(1006-1008)gcC>gcT p.A336A IRF5_ENST00000477535.1_Silent_p.A250A|IRF5_ENST00000357234.5_Silent_p.A352A|IRF5_ENST00000249375.4_Silent_p.A336A|IRF5_ENST00000473745.1_Silent_p.A336A NM_001098629.1|NM_001098630.1 NP_001092099.1|NP_001092100.1 Q13568 IRF5_HUMAN interferon regulatory factor 5 336 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1) 15 ACCTTTATGCCATCCGCCTGT 0.602000 6 71 0 0 0.001984 0 0 OLFM3 118427 broad.mit.edu 37 1 102269929 102269929 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:102269929G>A ENST00000370103.4 - 6 1455 c.1242C>T c.(1240-1242)ttC>ttT p.F414F OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000338858.5_Silent_p.F434F|OLFM3_ENST00000536598.1_3'UTR NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 434 Olfactomedin-like. extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) ATTGGTTATGGAAGGGAATGT 0.458000 57 82 0 0 0.014410 0 0 KIF14 9928 broad.mit.edu 37 1 200562861 200562861 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:200562861G>A ENST00000367350.4 - 15 3024 c.2586C>T c.(2584-2586)atC>atT p.I862I NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 862 FHA. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 CCCCAACTGGGATAATACTCA 0.318000 26 83 0 0 0.010818 0 0 SLC17A6 57084 broad.mit.edu 37 11 22381008 22381008 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:22381008C>T ENST00000263160.3 + 4 945 c.508C>T c.(508-510)Cca>Tca p.P170S NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 170 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 TATGCTAATTCCATCAGCAGC 0.388000 24 46 0 0 0.006320 0 0 ZNF221 7638 broad.mit.edu 37 19 44466927 44466927 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:44466927C>T ENST00000251269.5 + 3 377 c.49C>T c.(49-51)Cct>Tct p.P17S ZNF221_ENST00000592350.1_Missense_Mutation_p.P17S|ZNF221_ENST00000587682.1_Missense_Mutation_p.P17S NM_013359.2 NP_037491.2 Q9UK13 ZN221_HUMAN zinc finger protein 221 17 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 Prostate(69;0.0352) CTGCAAATTCCCTGAAGTAGA 0.403000 4 41 0 0 0.001168 0 0 FCGBP 8857 broad.mit.edu 37 19 40396021 40396021 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:40396021G>A ENST00000221347.6 - 15 7383 c.7376C>T c.(7375-7377)cCc>cTc p.P2459L NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 2459 VWFD 6. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGTGTAGTGGGGATCTCCCGA 0.677000 5 56 0 0 0.000602 0 0 TRHDE 29953 broad.mit.edu 37 12 72893403 72893403 + Silent SNP C C T rs138225464 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:72893403C>T ENST00000261180.4 + 6 1671 c.1575C>T c.(1573-1575)atC>atT p.I525I NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 525 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TTGACTGGATCGCATATAAAA 0.388000 21 12 0 0 0.002780 0 0 CFHR5 81494 broad.mit.edu 37 1 196952085 196952085 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:196952085C>T ENST00000367414.5 + 2 257 c.201C>T c.(199-201)tcC>tcT p.S67S CFHR5_ENST00000256785.4_Silent_p.S43S NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 43 Sushi 1. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 ACCCTTTTTCCCAAGTTCCTA 0.348000 23 49 0 0 0.014323 0 0 OR4D6 219983 broad.mit.edu 37 11 59224646 59224646 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:59224646C>T ENST00000300127.2 + 1 236 c.213C>T c.(211-213)atC>atT p.I71I NM_001004708.1 NP_001004708.1 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, member 6 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I71I(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 TCCTGGACATCGTTTTTTCAT 0.463000 34 50 0 0 0.013726 0 0 CYP21A2 1589 broad.mit.edu 37 6 32007948 32007948 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:32007948C>T ENST00000418967.2 + 7 1063 c.905C>T c.(904-906)tCc>tTc p.S302F CYP21A2_ENST00000435122.2_Missense_Mutation_p.S272F NM_000500.7 NP_000491.4 P08686 CP21A_HUMAN cytochrome P450, family 21, subfamily A, polypeptide 2 301 glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 11 AACACCCTCTCCTGGGCCGTG 0.617000 123 244 0 0 0.014410 0 0 NFKBID 84807 broad.mit.edu 37 19 36388565 36388565 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:36388565G>A ENST00000352614.2 - 4 449 c.450C>T c.(448-450)ccC>ccT p.P150P NFKBID_ENST00000606253.1_5'UTR|NFKBID_ENST00000396901.1_5'UTR Q8NI38 IKBD_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta 294 inflammatory response nucleus breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 14 CCATGCCCTGGGGAAATGGGC 0.562000 36 97 0 0 0.008740 0 0 LRRC32 2615 broad.mit.edu 37 11 76370954 76370954 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:76370954G>A ENST00000407242.2 - 3 1925 c.1683C>T c.(1681-1683)acC>acT p.T561T AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Silent_p.T561T|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Silent_p.T561T NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 561 integral to plasma membrane p.T561T(1) endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 GCCGGAGGCTGGTCTCCAGGC 0.662000 19 20 0 0 0.006122 0 0 PCSK5 5125 broad.mit.edu 37 9 78936388 78936388 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:78936388G>A ENST00000545128.1 + 30 4392 c.3854G>A c.(3853-3855)aGa>aAa p.R1285K NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 694 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TCTCCTTGCAGAACATGTGAA 0.557000 22 44 0 0 0.002780 0 0 BMS1 9790 broad.mit.edu 37 10 43315783 43315783 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:43315783C>T ENST00000374518.4 + 16 2743 c.2680C>T c.(2680-2682)Ccc>Tcc p.P894S NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 894 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TGAAAATGTTCCCTGTGAATT 0.488000 5 62 0 0 0.000602 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175833 140175833 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140175833G>A ENST00000526136.1 + 1 1284 c.1284G>A c.(1282-1284)cgG>cgA p.R428R PCDHA2_ENST00000378132.1_Silent_p.R428R|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.R428R|PCDHA1_ENST00000394633.3_Intron NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGACCGCACGGGACGGGGGCT 0.632000 15 47 0 0 0.006122 0 0 PTPRD 5789 broad.mit.edu 37 9 8341167 8341167 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:8341167G>A ENST00000381196.4 - 38 5592 c.5049C>T c.(5047-5049)tcC>tcT p.S1683S PTPRD_ENST00000358503.5_Silent_p.S1661S|PTPRD_ENST00000486161.1_Silent_p.S1276S|PTPRD_ENST00000356435.5_Silent_p.S1683S|PTPRD_ENST00000397617.3_Silent_p.S1276S|PTPRD_ENST00000397606.3_Silent_p.S1276S|PTPRD_ENST00000397611.3_Silent_p.S1273S|PTPRD_ENST00000355233.5_Silent_p.S1277S|PTPRD_ENST00000537002.1_Silent_p.S1273S|PTPRD_ENST00000540109.1_Silent_p.S1683S|PTPRD_ENST00000360074.4_Silent_p.S1670S NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1683 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) ATACCCTTGTGGATTCATATG 0.413000 TSP Lung(15;0.13) 31 120 0 0 0.013726 0 0 LPHN2 23266 broad.mit.edu 37 1 82436123 82436123 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:82436123G>A ENST00000370728.1 + 18 3492 c.2847G>A c.(2845-2847)agG>agA p.R949R LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Silent_p.R936R|LPHN2_ENST00000359929.3_Silent_p.R936R|LPHN2_ENST00000370725.1_Silent_p.R949R|LPHN2_ENST00000370721.1_Silent_p.R874R|LPHN2_ENST00000319517.6_Silent_p.R936R|LPHN2_ENST00000370730.1_Silent_p.R949R|LPHN2_ENST00000370713.1_Silent_p.R936R|LPHN2_ENST00000335786.5_Silent_p.R949R|LPHN2_ENST00000370715.1_Silent_p.R936R|LPHN2_ENST00000370717.2_Silent_p.R949R|LPHN2_ENST00000370723.1_Silent_p.R936R|LPHN2_ENST00000271029.4_Silent_p.R949R|LPHN2_ENST00000370727.1_Silent_p.R949R O95490 LPHN2_HUMAN latrophilin 2 949 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AATATTCAAGGAAAAAATATT 0.378000 27 61 0 0 0.004656 0 0 THRB 7068 broad.mit.edu 37 3 24231761 24231761 + Silent SNP T T G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:24231761T>G ENST00000396671.2 - 5 435 c.87A>C c.(85-87)ctA>ctC p.L29L THRB_ENST00000416420.1_Silent_p.L29L|THRB_ENST00000356447.4_Silent_p.L29L NM_001128176.2 NP_001121648.1 P10828 THB_HUMAN thyroid hormone receptor, beta 29 Modulating. 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) ACATTCCTACTAGCTTCCAGT 0.498000 27 70 0 0 0.007291 0 0 OBSL1 23363 broad.mit.edu 37 2 220422727 220422727 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:220422727G>A ENST00000404537.1 - 11 3664 c.3608C>T c.(3607-3609)cCc>cTc p.P1203L OBSL1_ENST00000373876.1_Missense_Mutation_p.P1203L|OBSL1_ENST00000603926.1_Missense_Mutation_p.P1203L|OBSL1_ENST00000265317.5_Missense_Mutation_p.P194L|OBSL1_ENST00000265318.4_Missense_Mutation_p.P1111L NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 1203 Ig-like 10. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) CCAGACCACGGGGGCGCCAGC 0.682000 10 15 0 0 0.006214 0 0 A1CF 29974 broad.mit.edu 37 10 52573619 52573619 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:52573619G>A ENST00000395489.2 - 12 1720 c.1324C>T c.(1324-1326)Cag>Tag p.Q442* A1CF_ENST00000374001.1_Nonsense_Mutation_p.Q441*|A1CF_ENST00000373993.1_Nonsense_Mutation_p.Q449*|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395495.1_Nonsense_Mutation_p.Q394*|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373997.3_Nonsense_Mutation_p.Q441*|A1CF_ENST00000282641.2_Nonsense_Mutation_p.Q449*|A1CF_ENST00000373995.3_Nonsense_Mutation_p.Q449* NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 449 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 TTACCTACCTGGGGAGCGAGT 0.388000 17 48 0 0 0.007413 0 0 ATP13A5 344905 broad.mit.edu 37 3 193036815 193036815 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:193036815C>T ENST00000342358.4 - 17 2115 c.1998G>A c.(1996-1998)aaG>aaA p.K666K NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 666 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) GATTCCCCATCTTTAAGGTTT 0.498000 29 89 0 0 0.010818 0 0 ZG16B 124220 broad.mit.edu 37 16 2882116 2882116 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:2882116C>T ENST00000382280.3 + 4 662 c.583C>T c.(583-585)Cca>Tca p.P195S ZG16B_ENST00000572863.1_Missense_Mutation_p.P165S NM_145252.2 NP_660295.2 Q96DA0 ZG16B_HUMAN zymogen granule protein 16B 195 extracellular region sugar binding central_nervous_system(1)|lung(2)|ovary(1)|prostate(1) 5 CACTGAGCCACCAGTTAATCT 0.552000 38 44 0 0 0.006230 0 0 PRRT1 80863 broad.mit.edu 37 6 32119621 32119621 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:32119621G>A ENST00000375150.2 - 3 248 c.64C>T c.(64-66)Cca>Tca p.P22S PRRT1_ENST00000211413.5_5'UTR|PRRT1_ENST00000375152.2_Missense_Mutation_p.P22S Q99946 PRRT1_HUMAN proline-rich transmembrane protein 1 105 response to biotic stimulus integral to membrane breast(2)|endometrium(1)|kidney(1)|lung(2) 6 GGTCTCGCTGGGACAGGGTCC 0.627000 94 183 0 0 0.014410 0 0 ZNF98 148198 broad.mit.edu 37 19 22574613 22574613 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:22574613G>A ENST00000357774.5 - 4 1545 c.1424C>T c.(1423-1425)tCa>tTa p.S475L NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 475 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) AGAAAGAGTTGAGGACTGGTT 0.373000 12 18 0 0 0.004007 0 0 MALAT1 378938 broad.mit.edu 37 11 65266490 65266490 + RNA SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:65266490A>G ENST00000534336.1 + 0 1258 NR_002819.2 TCCGTCTATAAATACGCCTCG 0.537000 28 74 0 0 0.012213 0 0 GK2 2712 broad.mit.edu 37 4 80329209 80329209 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:80329209T>C ENST00000358842.3 - 1 163 c.146A>G c.(145-147)aAa>aGa p.K49R NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 49 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 CCATCCTTCTTTTGGGAACTC 0.418000 31 35 0 0 0.008361 0 0 POU5F1B 5462 broad.mit.edu 37 8 128428154 128428154 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:128428154C>T ENST00000465342.2 + 2 1200 c.43C>T c.(43-45)Cca>Tca p.P15S CASC8_ENST00000501396.1_RNA|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000502082.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.P15S Q06416 P5F1B_HUMAN POU class 5 homeobox 1B 15 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|prostate(1)|urinary_tract(1) 3 CTCGCCCCCTCCAGGCGGTGG 0.642000 6 10 0 0 0.001168 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178541003 178541003 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:178541003G>A ENST00000251582.7 - 22 3602 c.3501C>T c.(3499-3501)atC>atT p.I1167I NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 1167 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) CCAGGCCATGGATTTTGTAGG 0.527000 20 63 0 0 0.008871 0 0 RECK 8434 broad.mit.edu 37 9 36108051 36108051 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:36108051T>C ENST00000377966.3 + 14 2221 c.1655T>C c.(1654-1656)gTt>gCt p.V552A NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 552 anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) GCAGGGGAAGTTGGTTGTTAT 0.423000 10 48 0 0 0.010729 0 0 MUC16 94025 broad.mit.edu 37 19 9089866 9089866 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9089866G>A ENST00000397910.4 - 1 2152 c.1949C>T c.(1948-1950)tCc>tTc p.S650F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 650 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 TGGAGACACGGAGACTGGGAC 0.552000 42 87 0 0 0.009718 0 0 GPR98 84059 broad.mit.edu 37 5 90136463 90136463 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:90136463G>A ENST00000405460.2 + 78 16776 c.16680G>A c.(16678-16680)gtG>gtA p.V5560V GPR98_ENST00000425867.2_Silent_p.V1221V NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5560 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) AGGATTTTGTGATAACTGAAG 0.398000 11 79 0 0 0.013537 0 0 ST18 9705 broad.mit.edu 37 8 53092862 53092862 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:53092862C>T ENST00000276480.7 - 9 780 c.97G>A c.(97-99)Gat>Aat p.D33N NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 33 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 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) ATGGAGCAATCATAGGCAACA 0.418000 22 87 0 0 0.003954 0 0 AGL 178 broad.mit.edu 37 1 100368320 100368320 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:100368320C>T ENST00000294724.4 + 27 4148 c.3670C>T c.(3670-3672)Ccc>Tcc p.P1224S AGL_ENST00000361915.3_Missense_Mutation_p.P1224S|AGL_ENST00000361302.3_Missense_Mutation_p.P1208S|AGL_ENST00000361522.4_Missense_Mutation_p.P1207S|AGL_ENST00000370165.3_Missense_Mutation_p.P1224S|AGL_ENST00000370161.2_Missense_Mutation_p.P1208S|AGL_ENST00000370163.3_Missense_Mutation_p.P1224S NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1224 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) GAATGCTGGTCCCCAGATAGA 0.388000 21 25 0 0 0.010504 0 0 GALNT13 114805 broad.mit.edu 37 2 155099242 155099242 + Silent SNP G G A rs142707218 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:155099242G>A ENST00000392825.3 + 6 1077 c.510G>A c.(508-510)gtG>gtA p.V170V GALNT13_ENST00000409237.1_Silent_p.V170V NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 170 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 AGAATTACGTGAAAAATTTAG 0.353000 8 15 0 0 0.006214 0 0 DIDO1 11083 broad.mit.edu 37 20 61511969 61511969 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:61511969G>A ENST00000266070.4 - 16 5664 c.5339C>T c.(5338-5340)cCg>cTg p.P1780L DIDO1_ENST00000395343.1_Missense_Mutation_p.P1780L NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1780 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TTCTGGAAACGGAGGGGCTGG 0.627000 23 99 0 0 0.002780 0 0 LYN 4067 broad.mit.edu 37 8 56863069 56863069 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:56863069C>T ENST00000520220.2 + 5 547 c.273C>T c.(271-273)ttC>ttT p.F91F LYN_ENST00000519728.1_Silent_p.F112F NM_001111097.2 NP_001104567.1 P07948 LYN_HUMAN v-yes-1 Yamaguchi sarcoma viral related oncogene homolog 112 SH3. 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) AAGAAGGCTTCATCCCCAGCA 0.393000 60 95 0 0 0.014410 0 0 CASZ1 54897 broad.mit.edu 37 1 10720315 10720315 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:10720315C>T ENST00000377022.3 - 6 1101 c.784G>A c.(784-786)Gag>Aag p.E262K CASZ1_ENST00000344008.5_Missense_Mutation_p.E262K NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 262 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) ACCCGCTCCTCGGTCTTGGTG 0.687000 23 31 0 0 0.012319 0 0 IGSF1 3547 broad.mit.edu 37 X 130415215 130415215 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:130415215C>T ENST00000370904.1 - 15 2506 c.1596G>A c.(1594-1596)tgG>tgA p.W532* IGSF1_ENST00000361420.3_Nonsense_Mutation_p.W541*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.W541*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.W532* Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 541 regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 TCCGACACTTCCACCTTATCC 0.483000 68 32 0 0 0.014410 0 0 BCL11A 53335 broad.mit.edu 37 2 60688386 60688386 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:60688386G>A ENST00000335712.6 - 4 1888 c.1661C>T c.(1660-1662)tCc>tTc p.S554F BCL11A_ENST00000538214.1_Missense_Mutation_p.S520F|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Missense_Mutation_p.S223F|BCL11A_ENST00000356842.4_Missense_Mutation_p.S554F|BCL11A_ENST00000358510.4_Missense_Mutation_p.S520F NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 554 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding p.S554F(1) NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) GTGCTGCATGGAGCTGAGCAC 0.706000 T IGH@ B-CLL 35 128 0 0 0.007835 0 0 SLC12A8 84561 broad.mit.edu 37 3 124802800 124802800 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:124802800G>A ENST00000423114.2 - 14 2165 c.2166C>T c.(2164-2166)ttC>ttT p.F722F SLC12A8_ENST00000314584.7_Silent_p.F354F|SLC12A8_ENST00000469902.1_Silent_p.F693F|SLC12A8_ENST00000393469.4_Silent_p.F693F|SLC12A8_ENST00000430155.2_Silent_p.F494F|SLC12A8_ENST00000465475.1_5'UTR A0AV02 S12A8_HUMAN solute carrier family 12, member 8 693 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 CCCGAGTGGCGAAGTCTGCAT 0.587000 5 8 0 0 0.000602 0 0 SYT17 51760 broad.mit.edu 37 16 19194956 19194956 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:19194956G>A ENST00000562034.1 + 3 4053 c.255G>A c.(253-255)cgG>cgA p.R85R SYT17_ENST00000562711.2_Silent_p.R142R|SYT17_ENST00000355377.2_Silent_p.R146R|SYT17_ENST00000568115.1_Silent_p.R85R Q9BSW7 SYT17_HUMAN synaptotagmin XVII 146 membrane|synaptic vesicle transporter activity NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 17 TGCTCAGACGGACCTATAACC 0.542000 10 48 0 0 0.006214 0 0 SLC35G2 80723 broad.mit.edu 37 3 136574470 136574470 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:136574470G>A ENST00000446465.2 + 2 1796 c.1168G>A c.(1168-1170)Ggc>Agc p.G390S RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA|SLC35G2_ENST00000393079.3_Missense_Mutation_p.G390S NM_025246.2 NP_079522.2 Q8TBE7 TMM22_HUMAN solute carrier family 35, member G2 390 DUF6 2. Golgi apparatus|integral to membrane TGTCCTTGCTGGCTATAAACT 0.373000 25 65 0 0 0.003954 0 0 TEX11 56159 broad.mit.edu 37 X 69871302 69871302 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:69871302C>T ENST00000395889.2 - 18 1681 c.1526G>A c.(1525-1527)aGa>aAa p.R509K TEX11_ENST00000374333.2_Missense_Mutation_p.R494K|TEX11_ENST00000374320.2_Missense_Mutation_p.R184K|TEX11_ENST00000344304.3_Missense_Mutation_p.R509K NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 509 protein binding breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) ATTTATACCTCTTTCAGAGTT 0.343000 7 7 0 0 0.003080 0 0 MCTP2 55784 broad.mit.edu 37 15 94884146 94884146 + Missense_Mutation SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:94884146A>C ENST00000357742.4 + 6 962 c.962A>C c.(961-963)aAg>aCg p.K321T MCTP2_ENST00000451018.3_Missense_Mutation_p.K321T|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Missense_Mutation_p.K321T NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 321 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) GGTGATTTCAAGAGACACGTA 0.378000 5 13 0 0 0.000602 0 0 MUC16 94025 broad.mit.edu 37 19 9074665 9074665 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9074665G>A ENST00000397910.4 - 3 12984 c.12781C>T c.(12781-12783)Cct>Tct p.P4261S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4263 Ser-rich.|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 CCTGGGATAGGAGAATATTCA 0.473000 24 58 0 0 0.004656 0 0 TSEN15 116461 broad.mit.edu 37 1 184041968 184041968 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:184041968C>T ENST00000361641.1 + 5 582 c.503C>T c.(502-504)tCt>tTt p.S168F TSEN15_ENST00000423085.2_Missense_Mutation_p.L121F|TSEN15_ENST00000533373.1_Silent_p.F133F NM_052965.2 NP_443197.1 Q8WW01 SEN15_HUMAN TSEN15 tRNA splicing endonuclease subunit 168 mRNA processing|tRNA processing nucleolus protein binding p.S168Y(1) breast(1)|kidney(3)|large_intestine(2)|lung(2) 8 CAGAATATTTCTCTTAGAAGA 0.308000 9 40 0 0 0.013537 0 0 ST14 6768 broad.mit.edu 37 11 130066489 130066489 + Silent SNP C C T rs138855512 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:130066489C>T ENST00000278742.5 + 11 1666 c.1248C>T c.(1246-1248)ttC>ttT p.F416F NM_021978.3 NP_068813.1 Q9Y5Y6 ST14_HUMAN suppression of tumorigenicity 14 (colon carcinoma) 416 CUB 2. proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) GGTCCCAGTTCGTCGTCACCA 0.617000 17 17 0 0 0.006122 0 0 B3GNT3 10331 broad.mit.edu 37 19 17922734 17922734 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:17922734G>A ENST00000318683.6 + 3 1069 c.922G>A c.(922-924)Gga>Aga p.G308R B3GNT3_ENST00000595387.1_Missense_Mutation_p.G308R NM_014256.3 NP_055071.2 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 308 protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 GGAGCTTGAGGGACTGAAGCC 0.627000 61 110 0 0 0.014410 0 0 IMPG2 50939 broad.mit.edu 37 3 100962396 100962396 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:100962396G>A ENST00000193391.7 - 13 2966 c.2779C>T c.(2779-2781)Ctg>Ttg p.L927L NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 927 SEA 2. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CTTTGCTCCAGGGCTTTATAC 0.413000 7 20 0 0 0.004482 0 0 SORCS1 114815 broad.mit.edu 37 10 108367054 108367054 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:108367054G>A ENST00000263054.6 - 23 3042 c.3033_splice c.e23-1 p.A1012_splice SORCS1_ENST00000344440.6_Splice_Site_p.A1012_splice|SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000369698.1_Splice_Site_p.A547_splice NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 1012 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) AACCCCTGTGGCCTGAGGGAC 0.572000 5 20 0 0 0.001168 0 0 SZT2 23334 broad.mit.edu 37 1 43890484 43890484 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:43890484C>T ENST00000562955.1 + 17 2501 c.2501C>T c.(2500-2502)gCc>gTc p.A834V SZT2_ENST00000372442.1_5'UTR NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 834 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 TTCCACTTCGCCTGCAGTGGG 0.537000 23 57 0 0 0.003954 0 0 CHDH 55349 broad.mit.edu 37 3 53851977 53851977 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:53851977C>T ENST00000315251.5 - 9 2049 c.1612G>A c.(1612-1614)Gaa>Aaa p.E538K NM_018397.4 NP_060867.2 Q8NE62 CHDH_HUMAN choline dehydrogenase 538 alcohol metabolic process choline dehydrogenase activity|flavin adenine dinucleotide binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 17 Hepatocellular(537;0.152) BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) Choline(DB00122) CTGAGGTTTTCCACCCCGAGG 0.597000 33 72 0 0 0.003755 0 0 OR10G4 390264 broad.mit.edu 37 11 123887188 123887188 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:123887188G>A ENST00000320891.4 + 1 907 c.907G>A c.(907-909)Gac>Aac p.D303N NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 303 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) GAAACTTAGAGACAAAGTAGC 0.368000 4 30 0 0 0.000602 0 0 PTPRT 11122 broad.mit.edu 37 20 40980823 40980823 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:40980823C>T ENST00000373198.3 - 10 1898 c.1663G>A c.(1663-1665)Ggt>Agt p.G555S PTPRT_ENST00000373190.1_Missense_Mutation_p.G555S|PTPRT_ENST00000373184.1_Missense_Mutation_p.G555S|PTPRT_ENST00000356100.2_Missense_Mutation_p.G555S|PTPRT_ENST00000373187.1_Missense_Mutation_p.G555S|PTPRT_ENST00000373193.3_Missense_Mutation_p.G555S|PTPRT_ENST00000373201.1_Missense_Mutation_p.G555S NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 555 Fibronectin type-III 3. 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) GGGTACAGACCCACAAAGAGG 0.567000 25 53 0 0 0.003954 0 0 OR6V1 346517 broad.mit.edu 37 7 142749749 142749749 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:142749749C>T ENST00000418316.1 + 1 333 c.312C>T c.(310-312)tcC>tcT p.S104S NM_001001667.1 NP_001001667.1 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, member 1 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 20 Melanoma(164;0.059) TCCACTTTTCCCTGGGGTCCA 0.557000 7 124 0 0 0.003080 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563715 140563715 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140563715C>T ENST00000361016.2 + 1 2736 c.1581C>T c.(1579-1581)ttC>ttT p.F527F NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 527 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCGGGAGTTCGAGTTCCGCG 0.687000 23 54 0 0 0.003330 0 0 SERPINA11 256394 broad.mit.edu 37 14 94914760 94914760 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:94914760C>T ENST00000334708.3 - 2 416 c.352G>A c.(352-354)Ggc>Agc p.G118S RP11-349I1.2_ENST00000536735.1_RNA NM_001080451.1 NP_001073920.1 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 118 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1) 24 COAD - Colon adenocarcinoma(157;0.211) CTCCGGAAGCCCTGGTGGATG 0.587000 63 74 0 0 0.014410 0 0 CDC42EP1 11135 broad.mit.edu 37 22 37964701 37964701 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:37964701C>T ENST00000249014.4 + 3 1470 c.1050C>T c.(1048-1050)tcC>tcT p.S350S NM_152243.2 NP_689449.1 Q00587 BORG5_HUMAN CDC42 effector protein (Rho GTPase binding) 1 350 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5) 15 Melanoma(58;0.0574) CCCGGGCCTCCTGGGAGAGCC 0.672000 11 16 0 0 0.008291 0 0 SLC17A6 57084 broad.mit.edu 37 11 22384351 22384351 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:22384351C>T ENST00000263160.3 + 6 1165 c.728C>T c.(727-729)tCt>tTt p.S243F NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 243 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 ACTGGCTGGTCTTCAGTGTTT 0.403000 21 53 0 0 0.004656 0 0 SYNGR4 23546 broad.mit.edu 37 19 48878949 48878949 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:48878949C>T ENST00000344846.2 + 4 661 c.411C>T c.(409-411)ctC>ctT p.L137L SYNGR4_ENST00000601610.1_Silent_p.L88L|SYNGR4_ENST00000595322.1_Intron NM_012451.3 NP_036583.2 O95473 SNG4_HUMAN synaptogyrin 4 137 MARVEL. integral to membrane breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1) 10 all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146) AAGAGTTCCTCCTGGGGAGCA 0.602000 25 55 0 0 0.007291 0 0 TMEM39A 55254 broad.mit.edu 37 3 119156934 119156934 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:119156934G>A ENST00000319172.5 - 6 1012 c.592C>T c.(592-594)Cct>Tct p.P198S TMEM39A_ENST00000486159.1_5'UTR NM_018266.1 NP_060736.1 Q9NV64 TM39A_HUMAN transmembrane protein 39A 198 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 13 GBM - Glioblastoma multiforme(114;0.244) CAGCAAAGAGGAACATAAACA 0.383000 5 22 0 0 0.000602 0 0 ARHGEF1 9138 broad.mit.edu 37 19 42410944 42410944 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:42410944C>T ENST00000378152.4 + 26 2625 c.2527C>T c.(2527-2529)Ccg>Tcg p.P843S ARHGEF1_ENST00000599846.1_3'UTR|ARHGEF1_ENST00000337665.4_3'UTR|ARHGEF1_ENST00000354532.3_3'UTR|ARHGEF1_ENST00000347545.4_3'UTR Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor (GEF) 1 0 cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) CTTGAGGTTCCCGCCCAGGAA 0.647000 9 9 0 0 0.008291 0 0 OR4C46 119749 broad.mit.edu 37 11 51515947 51515947 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:51515947C>T ENST00000328188.1 + 1 666 c.666C>T c.(664-666)tcC>tcT p.S222S NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 TCTTGTGCTCCCTAAGGACTC 0.488000 22 36 0 0 0.010504 0 0 KIR2DL4 3805 broad.mit.edu 37 19 55324656 55324656 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:55324656C>T ENST00000396284.2 + 6 777 c.777C>T c.(775-777)ctC>ctT p.L259L KIR2DL4_ENST00000357494.4_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000359085.4_Silent_p.L261L|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000345540.5_Intron killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CCTTCTTTCTCCTTCATCGCT 0.522000 17 11 0 0 0.007413 0 0 IL18RAP 8807 broad.mit.edu 37 2 103061691 103061691 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:103061691C>T ENST00000264260.2 + 9 1552 c.963C>T c.(961-963)atC>atT p.I321I IL18RAP_ENST00000409369.1_Silent_p.I179I NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 321 Ig-like C2-type 2. 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 AGCGTAATATCATCTTGGAAA 0.388000 14 22 0 0 0.004007 0 0 MUC16 94025 broad.mit.edu 37 19 9063501 9063501 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9063501G>A ENST00000397910.4 - 3 24148 c.23945C>T c.(23944-23946)tCa>tTa p.S7982L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7984 Ser-rich.|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 AGGAGAAGGTGAAGTTGTGGC 0.483000 7 22 0 0 0.006214 0 0 SDR42E1 93517 broad.mit.edu 37 16 82034450 82034450 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:82034450C>T ENST00000328945.5 - 2 141 c.14G>A c.(13-15)aGa>aAa p.R5K SDR42E1_ENST00000534209.1_5'UTR NM_145168.2 NP_660151.2 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, member 1 5 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 CTTTTGAGATCTTTTGGGGTC 0.373000 6 28 0 0 0.003080 0 0 MAGEB18 286514 broad.mit.edu 37 X 26157210 26157210 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:26157210G>A ENST00000325250.1 + 2 295 c.108G>A c.(106-108)gaG>gaA p.E36E NM_173699.3 NP_775970.1 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 36 protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 CAGAAGGAGAGTCACCCTCCC 0.577000 8 15 0 0 0.004482 0 0 KDM5B 10765 broad.mit.edu 37 1 202709807 202709807 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:202709807G>A ENST00000367265.3 - 20 4243 c.3079C>T c.(3079-3081)Ctg>Ttg p.L1027L KDM5B_ENST00000367264.2_Silent_p.L1063L NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 1027 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 CCAACCTGCAGGCCCTCTACA 0.522000 22 40 0 0 0.002780 0 0 OTOGL 283310 broad.mit.edu 37 12 80714438 80714438 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:80714438G>A ENST00000458043.2 + 33 4018 c.4012G>A c.(4012-4014)Gat>Aat p.D1338N OTOGL_ENST00000547103.1_Missense_Mutation_p.D1338N NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 AAAATATGATGATTCTGAAGA 0.348000 8 5 0 0 0.004482 0 0 PIBF1 10464 broad.mit.edu 37 13 73401869 73401869 + Splice_Site SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:73401869A>G ENST00000326291.6 + 8 1253 c.e8-1 NM_006346.2 NP_006337.2 Q8WXW3 PIBF1_HUMAN progesterone immunomodulatory binding factor 1 centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) ACATGTATGTAGGTAGTCACC 0.363000 12 16 0 0 0.001855 0 0 ELSPBP1 64100 broad.mit.edu 37 19 48511930 48511930 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:48511930C>T ENST00000339841.2 + 2 184 c.6C>T c.(4-6)acC>acT p.T2T ELSPBP1_ENST00000597519.1_Silent_p.T2T NM_022142.4 NP_071425.3 Q96BH3 ESPB1_HUMAN epididymal sperm binding protein 1 2 T -> N (in Ref. 1; CAC14267). single fertilization extracellular region NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6) 10 all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606) CCAAGATGACCCGATGGTCCA 0.468000 7 17 0 0 0.001984 0 0 PKN1 5585 broad.mit.edu 37 19 14581591 14581591 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:14581591G>A ENST00000242783.6 + 21 2718 c.2553G>A c.(2551-2553)cgG>cgA p.R851R PKN1_ENST00000342216.4_Silent_p.R857R NM_002741.3 NP_002732.3 Q16512 PKN1_HUMAN protein kinase N1 851 Protein kinase. activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1) 31 AGCTGCTTCGGAGGAACCCAG 0.617000 24 53 0 0 0.006320 0 0 PTPRU 10076 broad.mit.edu 37 1 29606570 29606570 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:29606570C>T ENST00000373779.3 + 11 1914 c.1785C>T c.(1783-1785)gcC>gcT p.A595A PTPRU_ENST00000345512.3_Silent_p.A595A|PTPRU_ENST00000460170.2_Silent_p.A595A|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Silent_p.A595A|PTPRU_ENST00000323874.8_Silent_p.A595A|PTPRU_ENST00000356870.3_Silent_p.A595A NM_001195001.1|NM_133178.3 NP_001181930.1|NP_573439.2 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 595 Fibronectin type-III 4. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) TTGATTATGCCGACATGCCGT 0.637000 21 44 0 0 0.004656 0 0 NTN4 59277 broad.mit.edu 37 12 96131721 96131721 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:96131721A>T ENST00000343702.4 - 3 1235 c.787T>A c.(787-789)Ttc>Atc p.F263I NTN4_ENST00000553059.1_Missense_Mutation_p.F263I|NTN4_ENST00000344911.4_Missense_Mutation_p.F226I|NTN4_ENST00000552603.1_5'UTR|NTN4_ENST00000538383.1_Missense_Mutation_p.F226I NM_021229.3 NP_067052.2 Q9HB63 NET4_HUMAN netrin 4 263 Laminin EGF-like 1. 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 CCATTGCAGAAGCAGCTGCCC 0.478000 19 27 0 0 0.007413 0 0 MUC16 94025 broad.mit.edu 37 19 9063963 9063963 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9063963G>A ENST00000397910.4 - 3 23686 c.23483C>T c.(23482-23484)tCc>tTc p.S7828F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7830 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S7828Y(2)|p.S3461Y(1) 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 AGGGGTCAGGGAGGAAGCTAG 0.542000 7 65 0 0 0.003080 0 0 SLC22A8 9376 broad.mit.edu 37 11 62766395 62766395 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:62766395G>A ENST00000336232.2 - 5 894 c.759C>T c.(757-759)tcC>tcT p.S253S SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000430500.2_Silent_p.S253S|SLC22A8_ENST00000535878.1_Silent_p.S130S|SLC22A8_ENST00000311438.8_Silent_p.S253S|SLC22A8_ENST00000545207.1_Silent_p.S162S NM_001184732.1|NM_001184736.1|NM_004254.3 NP_001171661.1|NP_001171665.1|NP_004245.2 Q8TCC7 S22A8_HUMAN solute carrier family 22 (organic anion transporter), member 8 253 response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 CCACATACCAGGATGATAGGA 0.592000 9 35 0 0 0.010729 0 0 POLD3 10714 broad.mit.edu 37 11 74324008 74324008 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:74324008C>T ENST00000263681.2 + 5 474 c.345C>T c.(343-345)ttC>ttT p.F115F POLD3_ENST00000532497.1_Silent_p.F9F|POLD3_ENST00000527458.1_Silent_p.F76F NM_006591.2 NP_006582.1 Q15054 DPOD3_HUMAN polymerase (DNA-directed), delta 3, accessory subunit 115 base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm DNA-directed DNA polymerase activity|protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1) 18 Breast(11;3.21e-06) GGCCTCTGTTCAATACTGACT 0.443000 24 49 0 0 0.003330 0 0 NEUROD4 58158 broad.mit.edu 37 12 55420389 55420389 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:55420389G>A ENST00000242994.3 + 2 544 c.166G>A c.(166-168)Gaa>Aaa p.E56K NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 56 Asp/Glu-rich (acidic). amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 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 CAGTATTgaggaagaagaaga 0.478000 6 10 0 0 0.001168 0 0 OR52H1 390067 broad.mit.edu 37 11 5566574 5566574 + Missense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:5566574C>A ENST00000322653.4 - 1 205 c.180G>T c.(178-180)gaG>gaT p.E60D HBG2_ENST00000380259.2_Intron NM_001005289.1 NP_001005289.1 Q8NGJ2 O52H1_HUMAN olfactory receptor, family 52, subfamily H, member 1 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGACTATGCTCCACCACAA 0.463000 8 41 1.12685e-05 1.22345e-05 0.004482 1 0 CREG2 200407 broad.mit.edu 37 2 102000125 102000125 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:102000125C>T ENST00000324768.4 - 2 618 c.481G>A c.(481-483)Gat>Aat p.D161N CREG2_ENST00000495455.1_5'UTR NM_153836.3 NP_722578.1 Q8IUH2 CREG2_HUMAN cellular repressor of E1A-stimulated genes 2 161 extracellular region FMN binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 10 AAGGGGCCATCACTGACGGGC 0.522000 23 64 0 0 0.004656 0 0 KRTAP19-7 337974 broad.mit.edu 37 21 31933513 31933513 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr21:31933513G>A ENST00000334849.2 - 1 120 c.96C>T c.(94-96)ttC>ttT p.F32F NM_181614.1 NP_853645.1 Q3SYF9 KR197_HUMAN keratin associated protein 19-7 32 intermediate filament endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 11 CCAGTCTGCGGAAGCTGCCAC 0.542000 4 64 0 0 0.000602 0 0 CEACAM20 125931 broad.mit.edu 37 19 45028262 45028262 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:45028262C>T ENST00000454753.1 - 0 507 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) ATGGCAGTGCCTGGGCTGACT 0.512000 121 258 0 0 0.014410 0 0 LRFN5 145581 broad.mit.edu 37 14 42356279 42356279 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:42356279G>A ENST00000554171.1 + 5 2883 c.451G>A c.(451-453)Gag>Aag p.E151K LRFN5_ENST00000298119.4_Missense_Mutation_p.E151K|LRFN5_ENST00000554120.1_Missense_Mutation_p.E151K Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 151 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CGCCCTTGAGGAGCTGGATCT 0.393000 HNSCC(30;0.082) 13 45 0 0 0.003163 0 0 COL4A5 1287 broad.mit.edu 37 X 107840644 107840644 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:107840644G>A ENST00000328300.6 + 24 1869 c.1625G>A c.(1624-1626)gGa>gAa p.G542E COL4A5_ENST00000361603.2_Missense_Mutation_p.G542E NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 542 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GGCTTTCCTGGATCTAAAGGT 0.453000 Alport syndrome with Diffuse Leiomyomatosis 43 24 0 0 0.014410 0 0 TNFSF18 8995 broad.mit.edu 37 1 173013110 173013110 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:173013110C>T ENST00000404377.3 - 2 223 c.e2-1 TNFSF18_ENST00000239468.2_Splice_Site|RP1-15D23.2_ENST00000432694.1_RNA NM_005092.3 NP_005083.2 Q9UNG2 TNF18_HUMAN tumor necrosis factor (ligand) superfamily, member 18 anti-apoptosis|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 9 CCTTAGCAGTCTGTTGGGGAA 0.358000 29 77 0 0 0.013726 0 0 NEUROD4 58158 broad.mit.edu 37 12 55420357 55420357 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:55420357G>A ENST00000242994.3 + 2 512 c.134G>A c.(133-135)aGc>aAc p.S45N NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 45 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 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 GGGATGCTCAGCAGCTTAACT 0.478000 15 13 0 0 0.002450 0 0 CPT1C 126129 broad.mit.edu 37 19 50212046 50212046 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:50212046G>A ENST00000392518.4 + 14 1888 c.1516G>A c.(1516-1518)Gac>Aac p.D506N CPT1C_ENST00000354199.5_Missense_Mutation_p.D506N|CPT1C_ENST00000598293.1_Missense_Mutation_p.D506N|CPT1C_ENST00000405931.2_Missense_Mutation_p.D495N|CPT1C_ENST00000323446.5_Missense_Mutation_p.D506N NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 506 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) GGGGCACCCGGACCCCACACT 0.597000 31 74 0 0 0.003271 0 0 PSD3 23362 broad.mit.edu 37 8 18725306 18725306 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:18725306G>A ENST00000440756.2 - 4 1614 c.1512C>T c.(1510-1512)atC>atT p.I504I PSD3_ENST00000523619.1_Silent_p.I439I|PSD3_ENST00000327040.8_Silent_p.I504I Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 504 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) ACACACTCAGGATATCCTGAT 0.502000 48 109 0 0 0.014410 0 0 CDK13 8621 broad.mit.edu 37 7 40037178 40037178 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:40037178C>T ENST00000181839.4 + 3 2562 c.1957C>T c.(1957-1959)Cct>Tct p.P653S CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.P653S NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 653 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 ACCGCTGCCCCCTGAGCTACC 0.398000 57 89 0 0 0.014410 0 0 ALDH18A1 5832 broad.mit.edu 37 10 97371130 97371130 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:97371130G>A ENST00000371224.2 - 16 2130 c.1993C>T c.(1993-1995)Cga>Tga p.R665* ALDH18A1_ENST00000371221.3_Nonsense_Mutation_p.R663* NM_002860.3 NP_002851.2 P54886 P5CS_HUMAN aldehyde dehydrogenase 18 family, member A1 665 Gamma-glutamyl phosphate reductase. proline biosynthetic process mitochondrial inner membrane ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity p.R665R(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Colorectal(252;0.0402) Epithelial(162;9.1e-07)|all cancers(201;2.55e-05) L-Glutamic Acid(DB00142) TACTCAGTTCGGAGTGACTTC 0.502000 33 111 0 0 0.005524 0 0 NOTCH3 4854 broad.mit.edu 37 19 15289871 15289871 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:15289871C>T ENST00000263388.2 - 22 3758 c.3683G>A c.(3682-3684)gGa>gAa p.G1228E NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1228 EGF-like 31. Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) ACGGAAACCTCCGCCTGGGTC 0.622000 10 24 0 0 0.006214 0 0 PCLO 27445 broad.mit.edu 37 7 82390025 82390025 + Missense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:82390025C>A ENST00000333891.8 - 24 15555 c.15218G>T c.(15217-15219)aGa>aTa p.R5073I NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4996 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 TCGATCATGTCTGCATACTCT 0.328000 11 45 1.58986e-06 1.72896e-06 0.008291 1 0 KCTD11 147040 broad.mit.edu 37 17 7256688 7256688 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:7256688G>A ENST00000333751.3 + 1 1481 c.427G>A c.(427-429)Gtg>Atg p.V143M RP11-542C16.1_ENST00000572417.1_RNA NM_001002914.2 NP_001002914.1 Q693B1 KCD11_HUMAN potassium channel tetramerization domain containing 11 143 cell cycle|regulation of growth voltage-gated potassium channel complex voltage-gated potassium channel activity kidney(1)|large_intestine(2)|lung(1) 4 Prostate(122;0.157) CCGATTTGGTGTGGCCAGTGG 0.617000 44 33 0 0 0.014410 0 0 BTNL8 79908 broad.mit.edu 37 5 180338436 180338436 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:180338436G>A ENST00000231229.4 + 3 729 c.495G>A c.(493-495)gcG>gcA p.A165A BTNL8_ENST00000505126.1_5'UTR|BTNL8_ENST00000400707.3_Silent_p.A40A|BTNL8_ENST00000340184.4_Silent_p.A165A|BTNL8_ENST00000533815.2_5'UTR|BTNL8_ENST00000511704.1_Silent_p.A49A|BTNL8_ENST00000508408.1_Silent_p.A165A NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 165 Ig-like V-type 2. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 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;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCCCACAGCGAAGTGGAAAG 0.537000 35 121 0 0 0.003755 0 0 SVEP1 79987 broad.mit.edu 37 9 113241922 113241922 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:113241922C>T ENST00000401783.2 - 13 2816 c.2480G>A c.(2479-2481)gGa>gAa p.G827E SVEP1_ENST00000374461.1_Missense_Mutation_p.G804E|SVEP1_ENST00000302728.8_Missense_Mutation_p.G827E|SVEP1_ENST00000374469.1_Missense_Mutation_p.G804E|SVEP1_ENST00000467821.1_5'UTR NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 827 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 TACCATTTTTCCCAGGGTCGT 0.388000 34 161 0 0 0.006230 0 0 KANK2 25959 broad.mit.edu 37 19 11303680 11303680 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:11303680G>A ENST00000432929.2 - 4 1436 c.1076C>T c.(1075-1077)cCt>cTt p.P359L KANK2_ENST00000589894.1_Missense_Mutation_p.P359L|KANK2_ENST00000355150.5_Missense_Mutation_p.P359L|KANK2_ENST00000589359.1_Missense_Mutation_p.P359L|KANK2_ENST00000586659.1_Missense_Mutation_p.P359L NM_001136191.2 NP_001129663.1 Q63ZY3 KANK2_HUMAN KN motif and ankyrin repeat domains 2 359 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 TGTGCCGTAAGGCTCCAGGCT 0.692000 14 27 0 0 0.003163 0 0 RIOK1 83732 broad.mit.edu 37 6 7401210 7401210 + Missense_Mutation SNP G G C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:7401210G>C ENST00000379834.2 + 6 1007 c.500G>C c.(499-501)aGa>aCa p.R167T NM_031480.2|NM_153005.1 NP_113668.2|NP_694550.1 Q9BRS2 RIOK1_HUMAN RIO kinase 1 167 ATP binding|protein serine/threonine kinase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) CCCAGAACAAGAATGATTTTA 0.338000 8 36 0 0 0.008291 0 0 TRIM29 23650 broad.mit.edu 37 11 119998049 119998049 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:119998049G>A ENST00000341846.5 - 3 1550 c.1129C>T c.(1129-1131)Ctg>Ttg p.L377L TRIM29_ENST00000529044.1_Silent_p.L116L|TRIM29_ENST00000541857.1_Silent_p.L110L NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 377 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) GTTACCTGCAGAAACAACACA 0.517000 22 22 0 0 0.014323 0 0 CCDC102B 79839 broad.mit.edu 37 18 66504003 66504003 + Translation_Start_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:66504003G>A ENST00000360242.5 + 2 120 c.3G>A c.(1-3)atG>atA p.M1I CCDC102B_ENST00000584156.1_Start_Codon_SNP_p.M1I|CCDC102B_ENST00000319445.6_Start_Codon_SNP_p.M1I|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Start_Codon_SNP_p.M1I NM_024781.2 NP_079057.2 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 1 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) AAATAAATATGAATTTAGATT 0.358000 8 25 0 0 0.006214 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291223 141291223 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:141291223C>T ENST00000247452.3 - 3 898 c.551G>A c.(550-552)aGa>aAa p.R184K NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 184 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) CTCACGGGCTCTCTTGAGTAT 0.483000 HNSCC(46;0.14) 71 40 0 0 0.014410 0 0 ZNF98 148198 broad.mit.edu 37 19 22586269 22586269 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:22586269C>T ENST00000357774.5 - 2 197 c.76G>A c.(76-78)Gag>Aag p.E26K ZNF98_ENST00000601553.1_Missense_Mutation_p.E26K NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 26 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) CATTGCCACTCCTCCAGAGAG 0.403000 14 43 0 0 0.001855 0 0 PLD2 5338 broad.mit.edu 37 17 4726072 4726072 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:4726072C>T ENST00000263088.6 + 25 2846 c.2715C>T c.(2713-2715)caC>caT p.H905H PLD2_ENST00000572940.1_Silent_p.H894H NM_001243108.1|NM_002663.4 NP_001230037.1|NP_002654.3 O14939 PLD2_HUMAN phospholipase D2 905 cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2) 31 Choline(DB00122) ACCTGGTCCACTTCCCCCTCA 0.637000 29 22 0 0 0.003271 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102495923 102495923 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:102495923C>T ENST00000360184.4 + 49 9680 c.9516C>T c.(9514-9516)acC>acT p.T3172T NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 3172 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 TGGCCATCACCCCTCGCCACT 0.527000 15 23 0 0 0.003163 0 0 CSMD1 64478 broad.mit.edu 37 8 3038724 3038724 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:3038724G>A ENST00000520002.1 - 38 6191 c.5636C>T c.(5635-5637)cCg>cTg p.P1879L CSMD1_ENST00000602557.1_Missense_Mutation_p.P1879L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1878L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1879L|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1879L|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1878L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1878L|CSMD1_ENST00000523387.1_5'UTR Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1879 CUB 11. 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) CAGCAGTGCCGGTACTGTGGT 0.393000 6 21 0 0 0.003080 0 0 FBXO7 25793 broad.mit.edu 37 22 32880020 32880020 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:32880020C>T ENST00000266087.7 + 3 881 c.554C>T c.(553-555)aCc>aTc p.T185I FBXO7_ENST00000397426.1_Missense_Mutation_p.T71I|FBXO7_ENST00000382058.3_Missense_Mutation_p.T106I NM_012179.3 NP_036311.3 Q9Y3I1 FBX7_HUMAN F-box protein 7 185 cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TCATTAGAGACCTTGTATCAA 0.453000 40 54 0 0 0.010771 0 0 FLG2 388698 broad.mit.edu 37 1 152329585 152329585 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:152329585C>T ENST00000388718.5 - 3 749 c.677G>A c.(676-678)gGa>gAa p.G226E FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 226 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) TGATCCAGATCCAGATTCATA 0.443000 36 208 0 0 0.006230 0 0 MAPT 4137 broad.mit.edu 37 17 44060909 44060909 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:44060909C>T ENST00000344290.5 + 6 1061 c.739C>T c.(739-741)Cag>Tag p.Q247* MAPT_ENST00000351559.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000262410.5_Nonsense_Mutation_p.Q247*|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000571987.1_Nonsense_Mutation_p.Q247*|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000415613.2_Nonsense_Mutation_p.Q247* NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 247 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) GCGGCCTCCCCAGACAGCCGC 0.642000 17 9 0 0 0.007413 0 0 FREM1 158326 broad.mit.edu 37 9 14746467 14746467 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:14746467C>T ENST00000380881.4 - 36 6957 c.e36-1 FREM1_ENST00000380880.3_Splice_Site|FREM1_ENST00000380894.1_Splice_Site|FREM1_ENST00000422223.2_Splice_Site Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) CTTCCACATCCTGAAAAACAG 0.483000 11 76 0 0 0.013537 0 0 FCRL5 83416 broad.mit.edu 37 1 157516808 157516808 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:157516808G>A ENST00000361835.3 - 3 389 c.232C>T c.(232-234)Cag>Tag p.Q78* FCRL5_ENST00000368190.3_Nonsense_Mutation_p.Q78*|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368189.3_Nonsense_Mutation_p.Q78*|FCRL5_ENST00000356953.4_Nonsense_Mutation_p.Q78*|FCRL5_ENST00000368188.2_Nonsense_Mutation_p.Q78* NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 78 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CCAGATTCCTGAACCTCAAGG 0.488000 25 41 0 0 0.002780 0 0 EPN1 29924 broad.mit.edu 37 19 56204341 56204341 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:56204341C>T ENST00000411543.2 + 9 2007 c.1460C>T c.(1459-1461)cCc>cTc p.P487L EPN1_ENST00000270460.6_Missense_Mutation_p.P401L|EPN1_ENST00000085079.7_Missense_Mutation_p.P375L NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 401 Ala/Gly/Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) GACACGGAGCCCGACGAGTTC 0.701000 27 91 0 0 0.009535 0 0 ROBO2 6092 broad.mit.edu 37 3 77612366 77612366 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:77612366G>A ENST00000461745.1 + 11 2468 c.1568G>A c.(1567-1569)gGg>gAg p.G523E ROBO2_ENST00000487694.3_Missense_Mutation_p.G539E|ROBO2_ENST00000332191.8_Missense_Mutation_p.G523E NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 523 Fibronectin type-III 1. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GACCTGCCAGGGCCACCATCC 0.453000 10 31 0 0 0.006214 0 0 NPAS4 266743 broad.mit.edu 37 11 66191885 66191885 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:66191885C>T ENST00000311034.2 + 7 1700 c.1524C>T c.(1522-1524)ttC>ttT p.F508F NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 508 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CCTCCACCTTCCCAGACCAGC 0.582000 72 134 0 0 0.014410 0 0 PREX1 57580 broad.mit.edu 37 20 47274731 47274731 + Silent SNP G G A rs147901913 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:47274731G>A ENST00000396220.1 - 17 1939 c.1917C>T c.(1915-1917)atC>atT p.I639I PREX1_ENST00000371941.3_Silent_p.I639I Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 639 PDZ. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) TCTTCTCCTCGATGTCAAAGC 0.672000 OREG0026010 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 252 0 0 0.014323 0 0 LVRN 206338 broad.mit.edu 37 5 115335539 115335539 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:115335539G>A ENST00000357872.4 + 7 1579 c.1455G>A c.(1453-1455)aaG>aaA p.K485K AQPEP_ENST00000395528.2_Silent_p.K2K NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 485 proteolysis integral to membrane metallopeptidase activity|zinc ion binding TGGCCATGAAGGTGGAAAATT 0.358000 9 27 0 0 0.001855 0 0 MAGEB2 4113 broad.mit.edu 37 X 30236800 30236800 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:30236800G>A ENST00000378988.4 + 2 204 c.103G>A c.(103-105)Gaa>Aaa p.E35K NM_002364.4 NP_002355.2 O15479 MAGB2_HUMAN melanoma antigen family B, 2 35 protein binding breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1) 23 TGAAGCAGAGGAAGAAGAGGC 0.602000 7 3 0 0 0.001984 0 0 PRRC2A 7916 broad.mit.edu 37 6 31592070 31592070 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:31592070C>T ENST00000376033.2 + 4 557 c.323C>T c.(322-324)tCg>tTg p.S108L PRRC2A_ENST00000469577.1_3'UTR|PRRC2A_ENST00000376007.4_Missense_Mutation_p.S108L NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 108 4 X 57 AA type A repeats. ESQPLPASQTPASNQPK -> NRTTAGFTDACLQPAE (in Ref. 8; CAA78744). cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CCGCCGGAATCGCAGCCACTG 0.617000 7 60 0 0 0.001984 0 0 ZEB1 6935 broad.mit.edu 37 10 31812998 31812998 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:31812998C>T ENST00000446923.2 + 8 3082 c.2691C>T c.(2689-2691)ttC>ttT p.F897F ZEB1_ENST00000320985.10_Silent_p.F913F|ZEB1_ENST00000361642.5_Silent_p.F914F|ZEB1_ENST00000542815.3_Silent_p.F846F|ZEB1_ENST00000560721.2_Silent_p.F893F NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 913 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) ACAAGATATTCCAAAAGAGTA 0.358000 11 46 0 0 0.013537 0 0 TNN 63923 broad.mit.edu 37 1 175054614 175054614 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:175054614C>T ENST00000239462.4 + 6 1421 c.1308C>T c.(1306-1308)ctC>ctT p.L436L NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 436 Fibronectin type-III 2. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) AGCCGATCCTCCTGAATGGCA 0.522000 3 9 0 0 0.009096 0 0 CNGB1 1258 broad.mit.edu 37 16 57918121 57918121 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:57918121C>T ENST00000564448.1 - 33 3745 c.3685G>A c.(3685-3687)Gag>Aag p.E1229K CNGB1_ENST00000251102.8_Missense_Mutation_p.E1235K Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 1235 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 AGGATCTGCTCTCCCGGCTCC 0.692000 28 61 0 0 0.005524 0 0 TEX15 56154 broad.mit.edu 37 8 30699863 30699863 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:30699863C>T ENST00000256246.2 - 1 6745 c.6671G>A c.(6670-6672)gGa>gAa p.G2224E NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2224 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) GGCCATTTTTCCTAAATCTTT 0.348000 27 52 0 0 0.010818 0 0 DNAAF1 123872 broad.mit.edu 37 16 84203719 84203719 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:84203719G>A ENST00000378553.5 + 8 1409 c.1285G>A c.(1285-1287)Gtt>Att p.V429I DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Intron NM_178452.4 NP_848547.4 Q8NEP3 DAAF1_HUMAN dynein, axonemal, assembly factor 1 429 Pro-rich. axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 ACCTGTGGAGGTTAAAGGAGA 0.617000 12 57 0 0 0.013537 0 0 C1orf105 92346 broad.mit.edu 37 1 172431348 172431348 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:172431348G>A ENST00000367727.4 + 5 502 c.304G>A c.(304-306)Gat>Aat p.D102N C1orf105_ENST00000367725.4_Missense_Mutation_p.D92N|C1orf105_ENST00000367726.1_3'UTR NM_139240.3 NP_640333.3 O95561 CA105_HUMAN chromosome 1 open reading frame 105 102 large_intestine(1)|lung(12)|prostate(1)|skin(1) 15 AATCCCAGATGATCCAAAAGC 0.343000 17 21 0 0 0.007413 0 0 IL20RA 53832 broad.mit.edu 37 6 137322987 137322987 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:137322987A>G ENST00000367748.1 - 6 1623 c.1037T>C c.(1036-1038)tTa>tCa p.L346S IL20RA_ENST00000541547.1_Missense_Mutation_p.L408S|IL20RA_ENST00000316649.5_Missense_Mutation_p.L457S Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha 457 integral to membrane receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) CAGGGGGTCTAAGTCTTGGAG 0.597000 21 67 0 0 0.002780 0 0 CORO2A 7464 broad.mit.edu 37 9 100899903 100899903 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:100899903C>T ENST00000343933.5 - 3 526 c.269G>A c.(268-270)tGg>tAg p.W90* CORO2A_ENST00000375077.4_Nonsense_Mutation_p.W90* NM_003389.3 NP_003380.3 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 90 actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) AAAAGGGTTCCACTTGACATC 0.557000 17 68 0 0 0.008871 0 0 HSPB8 26353 broad.mit.edu 37 12 119631570 119631570 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:119631570C>T ENST00000281938.2 + 3 1169 c.498C>T c.(496-498)atC>atT p.I166I HSPB8_ENST00000542496.1_3'UTR NM_014365.2 NP_055180.1 Q9UJY1 HSPB8_HUMAN heat shock 22kDa protein 8 166 cell death|response to heat cytoplasm|nucleus identical protein binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 14 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGCTGATCATCGAAGCTCCCC 0.498000 21 27 0 0 0.010504 0 0 FBLN1 2192 broad.mit.edu 37 22 45923772 45923772 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:45923772G>A ENST00000348697.2 + 4 514 c.367G>A c.(367-369)Ggc>Agc p.G123S FBLN1_ENST00000442170.2_Missense_Mutation_p.G123S|FBLN1_ENST00000327858.6_Missense_Mutation_p.G123S|FBLN1_ENST00000340923.5_Missense_Mutation_p.G123S|FBLN1_ENST00000262722.7_Missense_Mutation_p.G123S|FBLN1_ENST00000402984.3_Missense_Mutation_p.G161S P23142 FBLN1_HUMAN fibulin 1 123 Anaphylatoxin-like 3. interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) CCAGGCCCAGGGCCAGAGCTG 0.632000 15 64 0 0 0.004007 0 0 KCNT2 343450 broad.mit.edu 37 1 196451491 196451491 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:196451491C>T ENST00000367433.5 - 4 395 c.294G>A c.(292-294)gtG>gtA p.V98V KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000294725.8_Silent_p.V98V|KCNT2_ENST00000367431.4_Silent_p.V98V Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 98 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 GACTTCTGTTCACCCAAAAGA 0.284000 8 15 0 0 0.004482 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18808916 18808916 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:18808916G>A ENST00000400664.1 + 1 1493 c.1441G>A c.(1441-1443)Gag>Aag p.E481K NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 481 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGCAGAGCGCGAGCTGATCCT 0.657000 27 61 0 0 0.004656 0 0 MAGEC3 139081 broad.mit.edu 37 X 140984478 140984478 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:140984478G>A ENST00000544766.1 + 5 567 c.40G>A c.(40-42)Gaa>Aaa p.E14K MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000536088.1_Missense_Mutation_p.E14K|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000409007.1_Missense_Mutation_p.E14K|MAGEC3_ENST00000443323.2_Intron NM_177456.2 NP_803251.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 0 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) CAGCTTTGAGGAAGACTTCCA 0.532000 42 26 0 0 0.014410 0 0 AOX1 316 broad.mit.edu 37 2 201488607 201488607 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:201488607C>T ENST00000374700.2 + 19 2266 c.2025C>T c.(2023-2025)gtC>gtT p.V675V AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 675 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) GTCAGCTTGTCTGTGCTGTGC 0.488000 28 84 0 0 0.006320 0 0 SORBS2 8470 broad.mit.edu 37 4 186583354 186583354 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:186583354G>A ENST00000355634.5 - 8 1011 c.298C>T c.(298-300)Ccc>Tcc p.P100S SORBS2_ENST00000319471.9_Missense_Mutation_p.P86S|SORBS2_ENST00000284776.7_5'UTR|SORBS2_ENST00000437304.2_Missense_Mutation_p.P179S|SORBS2_ENST00000431808.1_5'UTR|SORBS2_ENST00000449407.2_Missense_Mutation_p.P86S|SORBS2_ENST00000393528.3_Missense_Mutation_p.P46S|SORBS2_ENST00000448662.2_Missense_Mutation_p.P69S NM_001270771.1 NP_001257700.1 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 0 SoHo. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) TAACTCATGGGACTCACGGCA 0.493000 10 6 0 0 0.006214 0 0 TBCK 93627 broad.mit.edu 37 4 107092295 107092295 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:107092295G>A ENST00000273980.4 - 24 2639 c.2192C>T c.(2191-2193)cCt>cTt p.P731L TBCK_ENST00000514689.1_5'UTR|TBCK_ENST00000361687.4_Missense_Mutation_p.P668L|TBCK_ENST00000394706.3_Missense_Mutation_p.P692L|TBCK_ENST00000432496.2_Missense_Mutation_p.P731L|TBCK_ENST00000394708.2_Missense_Mutation_p.P731L Q8TEA7 TBCK_HUMAN TBC1 domain containing kinase 731 intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 AGAGAAATAAGGTGCCGAACT 0.418000 23 27 0 0 0.003330 0 0 FAM220A 84792 broad.mit.edu 37 7 6370581 6370581 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:6370581G>A ENST00000313324.4 - 2 672 c.205C>T c.(205-207)Ccg>Tcg p.P69S NM_001037163.1 NP_001032240.1 Q7Z4H9 SIPAR_HUMAN family with sequence similarity 220, member A 69 nucleus GCCCCGCTCGGATCCTTTCTC 0.542000 26 33 0 0 0.004656 0 0 NLRP2 55655 broad.mit.edu 37 19 55492998 55492998 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:55492998G>A ENST00000543010.1 + 5 554 c.411G>A c.(409-411)acG>acA p.T137T NLRP2_ENST00000537859.1_Intron|NLRP2_ENST00000263437.6_Silent_p.T134T|NLRP2_ENST00000391721.4_Silent_p.T113T|NLRP2_ENST00000339757.7_Intron|NLRP2_ENST00000448584.2_Silent_p.T137T|NLRP2_ENST00000427260.2_Silent_p.T114T|NLRP2_ENST00000538819.1_Silent_p.T113T NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 137 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) TTACAGAAACGAAAGGAAATG 0.413000 24 49 0 0 0.003954 0 0 SYT10 341359 broad.mit.edu 37 12 33529798 33529798 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:33529798G>A ENST00000228567.3 - 7 1835 c.1539C>T c.(1537-1539)tcC>tcT p.S513S SYT10_ENST00000535526.1_Silent_p.S332S NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 513 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) GAGAAGGGCAGGATCCTTGAC 0.403000 76 49 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179637975 179637975 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179637975G>A ENST00000589042.1 - 33 7940 c.7716C>T c.(7714-7716)atC>atT p.I2572I TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000460472.2_Silent_p.I2526I|TTN_ENST00000360870.5_Silent_p.I2572I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.I2526I|TTN_ENST00000342992.6_Silent_p.I2572I|TTN_ENST00000342175.6_Silent_p.I2526I|TTN_ENST00000591111.1_Silent_p.I2572I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2306 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) AACTGGGCTTGATTTCCTTGT 0.348000 18 13 0 0 0.006122 0 0 ZNF616 90317 broad.mit.edu 37 19 52619558 52619558 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:52619558G>A ENST00000600228.1 - 4 1120 c.859C>T c.(859-861)Cat>Tat p.H287Y ZNF616_ENST00000330123.5_3'UTR NM_178523.3 NP_848618.2 Q08AN1 ZN616_HUMAN zinc finger protein 616 287 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) ATTCTCTGATGAACTGCAAGG 0.393000 20 38 0 0 0.012319 0 0 FAM92B 339145 broad.mit.edu 37 16 85143948 85143948 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:85143948C>T ENST00000539556.1 - 2 294 c.139G>A c.(139-141)Gac>Aac p.D47N NM_198491.1 NP_940893.1 Q6ZTR7 FA92B_HUMAN family with sequence similarity 92, member B 47 breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 16 ACCAGCTGGTCCGCCTTGTCC 0.632000 21 26 0 0 0.012319 0 0 CYP4F22 126410 broad.mit.edu 37 19 15648746 15648746 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:15648746C>T ENST00000269703.2 + 7 812 c.613C>T c.(613-615)Ctc>Ttc p.L205F CYP4F22_ENST00000601005.2_Missense_Mutation_p.L205F NM_173483.3 NP_775754.2 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 22 205 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 GCATATCAGCCTCATGACCCT 0.512000 26 42 0 0 0.006320 0 0 PRKAA2 5563 broad.mit.edu 37 1 57169990 57169990 + Nonsense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:57169990A>T ENST00000371244.4 + 7 1201 c.1135A>T c.(1135-1137)Aaa>Taa p.K379* NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 379 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 AGACAGCCCCAAAGCAAGATG 0.468000 21 34 0 0 0.014323 0 0 OR4K13 390433 broad.mit.edu 37 14 20502859 20502859 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:20502859G>A ENST00000315693.2 - 1 60 c.59C>T c.(58-60)tCt>tTt p.S20F NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) AAGATTTTGAGATTTGGAAAG 0.378000 8 30 0 0 0.006214 0 0 TPO 7173 broad.mit.edu 37 2 1500513 1500513 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:1500513G>A ENST00000345913.4 + 13 2453 c.2362G>A c.(2362-2364)Gat>Aat p.D788N TPO_ENST00000382198.1_Missense_Mutation_p.D615N|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.D615N|TPO_ENST00000382201.3_Missense_Mutation_p.D731N|TPO_ENST00000329066.4_Missense_Mutation_p.D788N|TPO_ENST00000337415.3_Missense_Mutation_p.D788N|TPO_ENST00000346956.3_Missense_Mutation_p.D788N NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 788 Sushi. 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 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) GGAAGGATGGGATTTCCAGCC 0.507000 32 75 0 0 0.004878 0 0 EPHB6 2051 broad.mit.edu 37 7 142566055 142566055 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:142566055C>T ENST00000392957.2 + 14 2762 c.1975C>T c.(1975-1977)Cga>Tga p.R659* EPHB6_ENST00000442129.1_Nonsense_Mutation_p.R659*|EPHB6_ENST00000411471.2_Nonsense_Mutation_p.R382* NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 659 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) TCAGGCCATCCGAGAACTTGC 0.562000 31 42 0 0 0.008361 0 0 MYO18B 84700 broad.mit.edu 37 22 26422717 26422717 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:26422717G>A ENST00000335473.7 + 43 7027 c.6777G>A c.(6775-6777)agG>agA p.R2259R MYO18B_ENST00000536101.1_Silent_p.R2259R|MYO18B_ENST00000407587.2_Silent_p.R2260R NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2259 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GGCTCCGGAGGAAGAGAGCCC 0.632000 3 14 0 0 0.004672 0 0 MUC2 4583 broad.mit.edu 37 11 1093693 1093693 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:1093693C>T ENST00000441003.2 + 30 5539 c.5512C>T c.(5512-5514)Cac>Tac p.H1838Y MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Missense_Mutation_p.H126Y NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1841 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GCCCCCCACCCACACAAGCAC 0.617000 53 96 0 0 0.014410 0 0 CCNA1 8900 broad.mit.edu 37 13 37016791 37016791 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:37016791C>T ENST00000418263.1 + 9 1734 c.1384C>T c.(1384-1386)Ctt>Ttt p.L462F CCNA1_ENST00000255465.4_Missense_Mutation_p.L463F|CCNA1_ENST00000440264.1_Missense_Mutation_p.L419F|CCNA1_ENST00000449823.1_Missense_Mutation_p.L419F NM_001111045.1|NM_003914.3 NP_001104515.1|NP_003905.1 P78396 CCNA1_HUMAN cyclin A1 463 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) TGCAGTTCTTCTTCTACAATA 0.443000 6 33 0 0 0.001168 0 0 CTTNBP2NL 55917 broad.mit.edu 37 1 112999697 112999697 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:112999697C>T ENST00000271277.6 + 6 1808 c.1583C>T c.(1582-1584)cCc>cTc p.P528L CTTNBP2NL_ENST00000607039.1_3'UTR|RP4-671G15.3_ENST00000508462.1_RNA NM_018704.2 NP_061174.1 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 528 actin cytoskeleton protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AACAGCTCTCCCTTTGGCACA 0.552000 28 43 0 0 0.009535 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215258 140215258 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140215258G>A ENST00000525929.1 + 1 1290 c.1290G>A c.(1288-1290)ggG>ggA p.G430G PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.G430G|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGGGACGGGGGCTCGCCTT 0.627000 22 70 0 0 0.014323 0 0 PGLYRP2 114770 broad.mit.edu 37 19 15587195 15587195 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:15587195C>T ENST00000292609.4 - 2 415 c.286G>A c.(286-288)Gag>Aag p.E96K PGLYRP2_ENST00000340880.4_Missense_Mutation_p.E96K Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 96 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1) 28 CGGGCCACCTCCTTGGTCAGG 0.612000 25 53 0 0 0.003330 0 0 BCL6 604 broad.mit.edu 37 3 187449586 187449586 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:187449586C>T ENST00000406870.2 - 4 660 c.294G>A c.(292-294)cgG>cgA p.R98R BCL6_ENST00000232014.4_Silent_p.R98R|BCL6_ENST00000450123.2_Silent_p.R98R|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron NM_001706.4 NP_001697.2 P41182 BCL6_HUMAN B-cell CLL/lymphoma 6 98 BTB. negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 40 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) TGTTGCCCTCCCGCAAATTGA 0.493000 """T, Mis""" """IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3""" """NHL, CLL""" 6 39 0 0 0.003080 0 0 FFAR3 2865 broad.mit.edu 37 19 35850271 35850271 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:35850271C>T ENST00000327809.4 + 2 680 c.479C>T c.(478-480)tCc>tTc p.S160F FFAR3_ENST00000594310.1_Missense_Mutation_p.S160F NM_005304.3 NP_005295.1 O14843 FFAR3_HUMAN free fatty acid receptor 3 160 integral to plasma membrane G-protein coupled receptor activity|lipid binding endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1) 17 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) GGGGACATCTCCCACAGCCAG 0.622000 9 44 0 0 0.010729 0 0 SLIT3 6586 broad.mit.edu 37 5 168123338 168123338 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:168123338C>T ENST00000519560.1 - 28 3460 c.3041G>A c.(3040-3042)gGg>gAg p.G1014E SLIT3_ENST00000404867.3_Missense_Mutation_p.G1014E|SLIT3_ENST00000332966.8_Missense_Mutation_p.G1021E NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1014 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) GTTGTTGATCCCGTCCACGCA 0.532000 20 41 0 0 0.010504 0 0 PLCB4 5332 broad.mit.edu 37 20 9318655 9318655 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:9318655G>A ENST00000378501.2 + 3 181 c.165_splice c.e3-1 p.E56_splice PLCB4_ENST00000378493.1_Splice_Site_p.E56_splice|PLCB4_ENST00000414679.2_Splice_Site_p.E56_splice|PLCB4_ENST00000278655.4_Splice_Site_p.E56_splice|PLCB4_ENST00000378473.3_Splice_Site_p.E56_splice|PLCB4_ENST00000334005.3_Splice_Site_p.E56_splice|PLCB4_ENST00000492632.1_3'UTR NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 56 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 CTCTCTTCAGGAAGGACAGGT 0.428000 17 19 0 0 0.004007 0 0 CST11 140880 broad.mit.edu 37 20 23432486 23432486 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:23432486C>T ENST00000377009.3 - 2 333 c.300G>A c.(298-300)acG>acA p.T100T CST11_ENST00000377007.3_Intron NM_130794.1 NP_570612.1 Q9H112 CST11_HUMAN cystatin 11 100 defense response to bacterium cytoplasm|nucleus cysteine-type endopeptidase inhibitor activity p.T100T(1) kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 14 Colorectal(13;0.0431)|Lung NSC(19;0.235) GGACACAGTTCGTGGTCTCTG 0.522000 14 50 0 0 0.003163 0 0 TAL2 6887 broad.mit.edu 37 9 108424936 108424936 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:108424936C>T ENST00000334077.3 + 1 199 c.159C>T c.(157-159)ttC>ttT p.F53F NM_005421.2 NP_005412.1 Q16559 TAL2_HUMAN T-cell acute lymphocytic leukemia 2 53 Helix-loop-helix motif. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ATATCAACTTCTTGGTCAAGG 0.557000 T TRB@ T-ALL 13 31 0 0 0.004007 0 0 CYP2S1 29785 broad.mit.edu 37 19 41704515 41704515 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:41704515C>T ENST00000310054.4 + 4 858 c.642C>T c.(640-642)tcC>tcT p.S214S CYP2S1_ENST00000542619.1_Intron NM_030622.6 NP_085125.1 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, polypeptide 1 214 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2) 14 GAGTCAGCTCCCAGGGGGGTC 0.612000 32 63 0 0 0.004289 0 0 CEACAM21 90273 broad.mit.edu 37 19 42083877 42083877 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:42083877G>A ENST00000187608.9 + 2 430 c.390G>A c.(388-390)caG>caA p.Q130Q CEACAM21_ENST00000407170.2_5'UTR|CEACAM21_ENST00000401445.2_Silent_p.Q130Q|CEACAM21_ENST00000482870.2_3'UTR NM_001098506.1|NM_033543.3 NP_001091976.1|NP_291021.2 Q3KPI0 CEA21_HUMAN carcinoembryonic antigen-related cell adhesion molecule 21 130 integral to membrane endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 13 GAAATTCTCAGATTGAACAGG 0.498000 9 46 0 0 0.006214 0 0 NLRX1 79671 broad.mit.edu 37 11 119050756 119050756 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:119050756C>T ENST00000409109.1 + 7 2613 c.2026C>T c.(2026-2028)Ctt>Ttt p.L676F NLRX1_ENST00000292199.2_Missense_Mutation_p.L676F|NLRX1_ENST00000409991.1_Missense_Mutation_p.L676F|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000409265.4_Missense_Mutation_p.L676F|NLRX1_ENST00000525863.1_Missense_Mutation_p.L676F Q86UT6 NLRX1_HUMAN NLR family member X1 676 Required for the repression of MAVS- induced interferon signaling. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) ATCAGAGCTCCTTGACCACCT 0.607000 4 14 0 0 0.009096 0 0 RXRG 6258 broad.mit.edu 37 1 165398114 165398114 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:165398114C>T ENST00000359842.5 - 2 441 c.139G>A c.(139-141)Gat>Aat p.D47N NM_001256570.1|NM_006917.4 NP_001243499.1|NP_008848.1 P48443 RXRG_HUMAN retinoid X receptor, gamma 47 Modulating (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) ACTGGGGTATCTGTGTAGCTG 0.607000 12 34 0 0 0.010729 0 0 GDF5 8200 broad.mit.edu 37 20 34025277 34025277 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:34025277G>A ENST00000374372.1 - 3 935 c.432C>T c.(430-432)ttC>ttT p.F144F GDF5_ENST00000374369.3_Silent_p.F144F P43026 GDF5_HUMAN growth differentiation factor 5 144 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) TCTTCAGCAGGAAGGAGCTGG 0.637000 18 87 0 0 0.007413 0 0 COL4A3 1285 broad.mit.edu 37 2 228169791 228169791 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:228169791G>A ENST00000396578.3 + 47 4406 c.4244G>A c.(4243-4245)gGa>gAa p.G1415E AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 1415 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGTTCTAAAGGAGAGCCAGGT 0.488000 8 18 0 0 0.004482 0 0 DENND2C 163259 broad.mit.edu 37 1 115166153 115166153 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:115166153C>T ENST00000393274.1 - 5 1543 c.918G>A c.(916-918)gaG>gaA p.E306E DENND2C_ENST00000393276.3_Silent_p.E306E|DENND2C_ENST00000481894.1_Intron|DENND2C_ENST00000393277.1_Silent_p.E306E NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 306 NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-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) AGATATTGTCCTCAGACTGTG 0.353000 6 38 0 0 0.001984 0 0 ZFAND2A 90637 broad.mit.edu 37 7 1197839 1197839 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:1197839G>A ENST00000401903.1 - 2 269 c.10C>T c.(10-12)Cct>Tct p.P4S ZFAND2A_ENST00000316495.3_Missense_Mutation_p.P4S Q8N6M9 ZFN2A_HUMAN zinc finger, AN1-type domain 2A 4 cytoplasm|nucleus zinc ion binding lung(2)|ovary(1) 3 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15) CCCAAATCAGGAAACTCCATT 0.428000 31 200 0 0 0.010818 0 0 PRG4 10216 broad.mit.edu 37 1 186278982 186278982 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:186278982G>A ENST00000445192.2 + 8 3524 c.3479G>A c.(3478-3480)gGg>gAg p.G1160E PRG4_ENST00000367484.3_Missense_Mutation_p.G689E|PRG4_ENST00000367483.4_Missense_Mutation_p.G1119E|PRG4_ENST00000367485.4_Missense_Mutation_p.G1067E|PRG4_ENST00000367486.3_Missense_Mutation_p.G1117E NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 1160 Hemopexin-like 1. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 TTGCGCAATGGGACATTAGTT 0.363000 23 74 0 0 0.003330 0 0 SKAP1 8631 broad.mit.edu 37 17 46262129 46262129 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:46262129C>T ENST00000336915.6 - 7 592 c.523G>A c.(523-525)Gaa>Aaa p.E175K SKAP1_ENST00000584924.1_Missense_Mutation_p.E175K NM_001075099.1|NM_003726.3 NP_001068567.1|NP_003717.3 Q86WV1 SKAP1_HUMAN src kinase associated phosphoprotein 1 175 PH. positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway cytoplasm|nucleus|plasma membrane antigen binding|protein kinase binding|SH2 domain binding large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1) 18 AAGCAGGATTCTTTCTTGGAA 0.527000 116 53 0 0 0.014410 0 0 GID8 54994 broad.mit.edu 37 20 61574861 61574861 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:61574861C>T ENST00000266069.3 + 4 477 c.330C>T c.(328-330)atC>atT p.I110I NM_017896.2 NP_060366.1 GID complex subunit 8 AGCATTTGATCGAGCTGATCC 0.607000 13 24 0 0 0.002450 0 0 SLC16A11 162515 broad.mit.edu 37 17 6945846 6945846 + Missense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:6945846G>T ENST00000308009.1 - 3 992 c.655C>A c.(655-657)Ctt>Att p.L219I SLC16A11_ENST00000447225.1_Missense_Mutation_p.L195I NM_153357.1 NP_699188.1 Q8NCK7 MOT11_HUMAN solute carrier family 16, member 11 219 integral to membrane|plasma membrane symporter activity endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2) 9 TCTCCAGGAAGGACCAGGGGT 0.662000 3 2 0.004672 0.0050461 0.004672 1 0 L3MBTL2 83746 broad.mit.edu 37 22 41621034 41621034 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:41621034C>T ENST00000216237.5 + 11 1473 c.1315C>T c.(1315-1317)Ccc>Tcc p.P439S NM_031488.4 NP_113676.2 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 (Drosophila) 439 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GGCCATTGACCCCCTGAATCT 0.597000 20 66 0 0 0.002780 0 0 CTSE 1510 broad.mit.edu 37 1 206319209 206319209 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:206319209C>T ENST00000361052.3 + 3 452 c.334C>T c.(334-336)Cca>Tca p.P112S CTSE_ENST00000360218.2_Missense_Mutation_p.P112S|CTSE_ENST00000358184.2_Missense_Mutation_p.P112S|CTSE_ENST00000432969.2_Missense_Mutation_p.P37S P14091 CATE_HUMAN cathepsin E 112 antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis endosome aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3) 16 BRCA - Breast invasive adenocarcinoma(75;0.0754) CTGCACTAGCCCAGCCTGCAG 0.597000 12 27 0 0 0.010729 0 0 CLCNKA 1187 broad.mit.edu 37 1 16353030 16353030 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:16353030G>A ENST00000375692.1 + 7 626 c.e7-1 CLCNKA_ENST00000331433.4_Splice_Site|CLCNKA_ENST00000439316.2_Splice_Site|CLCNKA_ENST00000464764.1_Splice_Site|CLCNKA_ENST00000420078.1_Splice_Site P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) TCCCTCTGCAGGGCCCTTTCG 0.662000 9 55 0 0 0.008291 0 0 TEX15 56154 broad.mit.edu 37 8 30706008 30706008 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:30706008C>T ENST00000256246.2 - 1 600 c.526G>A c.(526-528)Gag>Aag p.E176K NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 176 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TGAGCCTTCTCCTCACTGTGG 0.423000 7 41 0 0 0.003080 0 0 TTN 7273 broad.mit.edu 37 2 179401219 179401219 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179401219C>T ENST00000589042.1 - 357 100479 c.100255G>A c.(100255-100257)Gat>Aat p.D33419N TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D24354N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D24479N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D30851N|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D24546N|TTN_ENST00000591111.1_Missense_Mutation_p.D31778N|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31778 E -> D. 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) GCACCTCCATCACTGGCAGGT 0.403000 22 57 0 0 0.002780 0 0 LCE1B 353132 broad.mit.edu 37 1 152785023 152785023 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:152785023C>T ENST00000360090.3 + 1 577 c.101C>T c.(100-102)cCc>cTc p.P34L NM_178349.1 NP_848126.1 Q5T7P3 LCE1B_HUMAN late cornified envelope 1B 34 Pro-rich. keratinization breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2) 18 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCAAAGTGTCCCCCTAAGTGT 0.637000 24 47 0 0 0.003330 0 0 CAMKK2 10645 broad.mit.edu 37 12 121682391 121682391 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:121682391G>A ENST00000324774.5 - 16 2409 c.1581C>T c.(1579-1581)tcC>tcT p.S527S CAMKK2_ENST00000392473.2_Silent_p.S527S|CAMKK2_ENST00000392474.2_Silent_p.S527S|CAMKK2_ENST00000347034.2_Silent_p.S484S|CAMKK2_ENST00000337174.3_Intron|CAMKK2_ENST00000404169.3_Silent_p.S527S|CAMKK2_ENST00000446440.2_Silent_p.S484S|CAMKK2_ENST00000412367.2_Intron|CAMKK2_ENST00000402834.4_Silent_p.S527S|CAMKK2_ENST00000538733.1_Intron|CAMKK2_ENST00000545538.1_Silent_p.S314S NM_006549.3 NP_006540.3 Q96RR4 KKCC2_HUMAN calcium/calmodulin-dependent protein kinase kinase 2, beta 527 calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GCTCAGACAGGGACTCACATT 0.637000 37 134 0 0 0.006230 0 0 PANX1 24145 broad.mit.edu 37 11 93911600 93911600 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:93911600C>T ENST00000227638.3 + 3 772 c.387C>T c.(385-387)ttC>ttT p.F129F PANX1_ENST00000436171.2_Silent_p.F129F NM_015368.3 NP_056183.2 Q96RD7 PANX1_HUMAN pannexin 1 129 positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TCTGGCGTTTCGCAGCTGCTC 0.468000 29 28 0 0 0.012213 0 0 AP3B1 8546 broad.mit.edu 37 5 77423960 77423960 + Missense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:77423960G>T ENST00000255194.6 - 17 2037 c.1862C>A c.(1861-1863)aCc>aAc p.T621N AP3B1_ENST00000519295.1_Missense_Mutation_p.T572N NM_001271769.1 NP_001258698.1 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 subunit 621 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1) 39 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) ATGAGATAAGGTGCCAAGCTG 0.363000 Hermansky-Pudlak syndrome 7 11 1.06961e-07 1.16509e-07 0.003080 1 0 M1AP 130951 broad.mit.edu 37 2 74834197 74834197 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:74834197C>T ENST00000290536.5 - 4 696 c.580G>A c.(580-582)Gat>Aat p.D194N M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000409585.1_Missense_Mutation_p.D194N|M1AP_ENST00000536235.1_Missense_Mutation_p.D194N NM_138804.3 NP_620159.2 meiosis 1 associated protein TTGCTGGTATCCTCAACAGGA 0.423000 24 39 0 0 0.003330 0 0 TTLL9 164395 broad.mit.edu 37 20 30496439 30496439 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:30496439G>A ENST00000375938.4 + 5 505 c.252G>A c.(250-252)cgG>cgA p.R84R TTLL9_ENST00000375922.4_Silent_p.R34R|TTLL9_ENST00000375921.2_Silent_p.R34R|TTLL9_ENST00000310998.4_Silent_p.R34R|TTLL9_ENST00000375934.4_Silent_p.R66R|TTLL9_ENST00000535842.1_Silent_p.R84R Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 84 TTL. protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GCTGGCTCCGGGAGAACTTCG 0.602000 5 25 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179614065 179614065 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179614065G>A ENST00000360870.5 - 46 13284 c.13062C>T c.(13060-13062)ttC>ttT p.F4354F TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 488 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) GACATTGTATGAATTCAGCCC 0.418000 29 45 0 0 0.003271 0 0 KIAA1244 57221 broad.mit.edu 37 6 138640839 138640839 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:138640839G>A ENST00000251691.4 + 28 4640 c.e28-1 NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) TTCTTTTTCAGGACCAGGGTT 0.488000 47 148 0 0 0.014410 0 0 GALNT6 11226 broad.mit.edu 37 12 51757921 51757921 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:51757921C>T ENST00000543196.2 - 5 1238 c.1033G>A c.(1033-1035)Gaa>Aaa p.E345K GALNT6_ENST00000356317.3_Missense_Mutation_p.E345K Q8NCL4 GALT6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) 345 protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 GGGTAGGTTTCATCCTTGCGC 0.572000 30 37 0 0 0.013726 0 0 PVALB 5816 broad.mit.edu 37 22 37211164 37211164 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:37211164G>A ENST00000216200.5 - 3 232 c.177C>T c.(175-177)atC>atT p.I59I PVALB_ENST00000417718.2_Silent_p.I59I|PVALB_ENST00000404171.1_Silent_p.I27I NM_002854.2 NP_002845.1 P20472 PRVA_HUMAN parvalbumin 59 EF-hand 1. calcium ion binding large_intestine(1)|lung(1)|skin(1) 3 CATCCTCCTCGATGAAGCCAC 0.557000 7 19 0 0 0.003080 0 0 KSR2 283455 broad.mit.edu 37 12 117962898 117962898 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:117962898C>T ENST00000425217.1 - 14 1945 c.1891G>A c.(1891-1893)Gac>Aac p.D631N KSR2_ENST00000302438.5_Missense_Mutation_p.D357N|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.D660N NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 660 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AAGGGGATGTCCCACTCCTGA 0.617000 32 28 0 0 0.004289 0 0 USP24 23358 broad.mit.edu 37 1 55547002 55547002 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:55547002C>T ENST00000294383.6 - 59 7070 c.7071G>A c.(7069-7071)agG>agA p.R2357R USP24_ENST00000407756.1_Silent_p.R2197R NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 2357 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 TACCAACATTCCTTTGGGATG 0.373000 42 261 0 0 0.010771 0 0 RP1 6101 broad.mit.edu 37 8 55540720 55540720 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:55540720G>A ENST00000220676.1 + 4 4426 c.4278G>A c.(4276-4278)agG>agA p.R1426R NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1426 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GTTCACTAAGGAAGTTTCAGG 0.368000 9 18 0 0 0.008291 0 0 ZDHHC21 340481 broad.mit.edu 37 9 14618989 14618989 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:14618989G>A ENST00000380916.3 - 10 1239 c.773C>T c.(772-774)cCc>cTc p.P258L NM_178566.4 NP_848661.1 Q8IVQ6 ZDH21_HUMAN zinc finger, DHHC-type containing 21 258 nitric oxide metabolic process|regulation of nitric-oxide synthase activity Golgi membrane|integral to membrane palmitoyltransferase activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(2)|skin(1) 9 GBM - Glioblastoma multiforme(50;4.31e-06) AAAGTGGTAGGGAACTCGCAG 0.488000 21 23 0 0 0.003330 0 0 DMWD 1762 broad.mit.edu 37 19 46289988 46289988 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:46289988G>A ENST00000270223.6 - 3 811 c.766C>T c.(766-768)Ctg>Ttg p.L256L DMWD_ENST00000377735.3_Silent_p.L256L NM_004943.1 NP_004934.1 Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 256 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) TGCTTCAGCAGGCTGTACTGG 0.667000 23 51 0 0 0.003330 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475257 140475257 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140475257C>T ENST00000194155.4 + 1 1031 c.883C>T c.(883-885)Cga>Tga p.R295* NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 295 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAAAACGTTTCGATTAAGTGC 0.428000 5 27 0 0 0.001168 0 0 RBM47 54502 broad.mit.edu 37 4 40440173 40440173 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:40440173C>T ENST00000319592.4 - 4 1447 c.738G>A c.(736-738)aaG>aaA p.K246K RBM47_ENST00000381793.2_Silent_p.K246K|RBM47_ENST00000514014.1_Silent_p.K208K|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Silent_p.K246K|RBM47_ENST00000381795.6_Silent_p.K246K A0AV96 RBM47_HUMAN RNA binding motif protein 47 246 RRM 3. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 CGTAGAGGATCTTCACGGTCT 0.612000 34 32 0 0 0.006230 0 0 SORCS3 22986 broad.mit.edu 37 10 106865208 106865208 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:106865208G>A ENST00000369701.3 + 7 1374 c.1147G>A c.(1147-1149)Ggg>Agg p.G383R NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 383 integral to membrane neuropeptide receptor activity p.G383W(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AACTAGAAGTGGGCCTTTTGC 0.473000 21 41 0 0 0.012319 0 0 ANKRD35 148741 broad.mit.edu 37 1 145562600 145562600 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:145562600C>T ENST00000355594.4 + 10 2375 c.2288C>T c.(2287-2289)cCg>cTg p.P763L NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 763 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TCCTTGTCCCCGTGTAGGGAG 0.657000 3 9 0 0 0.004672 0 0 MYH8 4626 broad.mit.edu 37 17 10321993 10321993 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:10321993G>A ENST00000403437.2 - 5 574 c.480C>T c.(478-480)atC>atT p.I160I CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 160 Myosin head-like. 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 CATTGTCAGAGATGGAGAAGA 0.517000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 53 55 0 0 0.014410 0 0 CCBE1 147372 broad.mit.edu 37 18 57107039 57107039 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:57107039C>T ENST00000439986.4 - 8 822 c.785G>A c.(784-786)gGa>gAa p.G262E CCBE1_ENST00000398179.2_Intron NM_133459.3 NP_597716.1 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 262 Collagen-like 1. lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) TCCCTTTGGTCCTGGTGAGCC 0.597000 9 33 0 0 0.008291 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502505 140502505 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140502505G>A ENST00000194152.1 + 1 925 c.925G>A c.(925-927)Gaa>Aaa p.E309K NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 309 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATTGGATTTCGAAAAAATTAA 0.358000 22 78 0 0 0.012319 0 0 PPFIA2 8499 broad.mit.edu 37 12 81734885 81734885 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:81734885G>A ENST00000550584.2 - 19 2660 c.2365C>T c.(2365-2367)Cct>Tct p.P789S PPFIA2_ENST00000548586.1_Missense_Mutation_p.P789S|PPFIA2_ENST00000541570.2_Missense_Mutation_p.P356S|PPFIA2_ENST00000550359.2_Missense_Mutation_p.P636S|PPFIA2_ENST00000549396.1_Missense_Mutation_p.P789S|PPFIA2_ENST00000552948.1_Missense_Mutation_p.P789S|PPFIA2_ENST00000549325.1_Missense_Mutation_p.P771S|PPFIA2_ENST00000443686.3_Missense_Mutation_p.P690S|PPFIA2_ENST00000333447.7_Missense_Mutation_p.P771S|PPFIA2_ENST00000541017.1_Missense_Mutation_p.P6S|PPFIA2_ENST00000407050.4_Missense_Mutation_p.P715S|PPFIA2_ENST00000545296.2_Intron NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 715 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TAGGAAGAAGGGAGAGTGTGA 0.473000 31 21 0 0 0.012213 0 0 ACSBG1 23205 broad.mit.edu 37 15 78466727 78466727 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:78466727C>T ENST00000258873.4 - 12 2047 c.1842_splice c.e12+1 p.K614_splice ACSBG1_ENST00000541759.1_Splice_Site_p.K372_splice|ACSBG1_ENST00000560817.1_Splice_Site_p.K372_splice NM_001199377.1|NM_015162.4 NP_001186306.1|NP_055977.3 Q96GR2 ACBG1_HUMAN acyl-CoA synthetase bubblegum family member 1 614 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 CCAGACACACCTTCAAGGTGA 0.597000 5 31 0 0 0.001168 0 0 IMP3 55272 broad.mit.edu 37 15 75931965 75931965 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:75931965A>G ENST00000314852.2 - 2 1488 c.545T>C c.(544-546)cTg>cCg p.L182P IMP3_ENST00000403490.1_Missense_Mutation_p.L182P Q9NV31 IMP3_HUMAN IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast) 182 rRNA processing nucleolus|ribonucleoprotein complex protein binding|rRNA binding large_intestine(1) 1 CTAGGCTTCCAGATCGAAGTC 0.532000 17 36 0 0 0.006122 0 0 ZNF326 284695 broad.mit.edu 37 1 90484280 90484280 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:90484280C>T ENST00000340281.4 + 9 1254 c.1111C>T c.(1111-1113)Cgt>Tgt p.R371C ZNF326_ENST00000370447.2_Missense_Mutation_p.R282C|ZNF326_ENST00000455342.2_Missense_Mutation_p.R165C NM_182976.2 NP_892021.1 Q5BKZ1 ZN326_HUMAN zinc finger protein 326 371 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix DNA binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1) 25 all_lung(203;0.0116)|Lung NSC(277;0.0417) all cancers(265;0.00728)|Epithelial(280;0.0265) AACATCTATTCGTAAGCAACA 0.259000 26 46 0 0 0.012213 0 0 U66061.31 0 broad.mit.edu 37 7 142423703 142423703 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:142423703G>A ENST00000506718.1 + 0 711 GTGTTGCACAGCCAGCTGCTC 0.532000 8 36 0 0 0.004482 0 0 NLRP12 91662 broad.mit.edu 37 19 54312891 54312891 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:54312891C>T ENST00000324134.6 - 3 2190 c.2022G>A c.(2020-2022)ggG>ggA p.G674G NLRP12_ENST00000391773.1_Silent_p.G674G|NLRP12_ENST00000391775.3_Silent_p.G674G|NLRP12_ENST00000351894.4_Silent_p.G674G|NLRP12_ENST00000345770.5_Silent_p.G674G|NLRP12_ENST00000354278.3_Silent_p.G674G|NLRP12_ENST00000391772.1_Silent_p.G674G|NLRP12_ENST00000535162.1_Silent_p.G674G NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 674 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CGCGGTCTTCCCCGTCCGCGC 0.612000 13 27 0 0 0.013537 0 0 SHANK2 22941 broad.mit.edu 37 11 70336376 70336376 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:70336376C>T ENST00000409530.1 - 8 788 c.789G>A c.(787-789)aaG>aaA p.K263K SHANK2_ENST00000449116.2_Silent_p.K254K|SHANK2_ENST00000409161.1_Intron|SHANK2_ENST00000449833.2_Intron|SHANK2_ENST00000338508.4_Intron|SHANK2_ENST00000357171.3_Silent_p.K264K|SHANK2_ENST00000423696.2_Intron Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 473 PDZ. intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TGCCACACTTCTTACCTATTG 0.572000 23 38 0 0 0.004656 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24922358 24922358 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:24922358G>A ENST00000396432.2 - 6 899 c.413C>T c.(412-414)tCc>tTc p.S138F NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 137 PDZ. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 AATTACTTGGGAATAGGTTTT 0.318000 12 24 0 0 0.002450 0 0 CDK5RAP1 51654 broad.mit.edu 37 20 31967317 31967317 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:31967317C>T ENST00000357886.4 - 9 1252 c.1099G>A c.(1099-1101)Gaa>Aaa p.E367K CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.E263K|CDK5RAP1_ENST00000339269.5_Intron|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.E353K|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.E353K Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 367 brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26 ATCCTCATTTCAGGATCTACT 0.463000 4 31 0 0 0.009096 0 0 NLRP7 199713 broad.mit.edu 37 19 55451341 55451341 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:55451341G>A ENST00000588756.1 - 6 1332 c.846C>T c.(844-846)ctC>ctT p.L282L NLRP7_ENST00000448121.2_Silent_p.L282L|NLRP7_ENST00000592784.1_Silent_p.L282L|NLRP7_ENST00000590030.1_Silent_p.L282L|NLRP7_ENST00000340844.2_Silent_p.L282L|NLRP7_ENST00000328092.5_Silent_p.L282L|NLRP7_ENST00000446217.1_Silent_p.L310L Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 282 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) AACTCCCCAGGAGGACGGGCA 0.632000 15 31 0 0 0.003163 0 0 CCDC88C 440193 broad.mit.edu 37 14 91749831 91749831 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:91749831G>A ENST00000389857.6 - 26 4558 c.4472C>T c.(4471-4473)tCc>tTc p.S1491F CCDC88C_ENST00000331194.7_Missense_Mutation_p.S15F NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 1491 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TCTGTGTGGGGAGCCTCGCTT 0.602000 5 8 0 0 0.001984 0 0 SCN5A 6331 broad.mit.edu 37 3 38663953 38663953 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:38663953G>A ENST00000413689.1 - 4 613 c.420C>T c.(418-420)acC>acT p.T140T SCN5A_ENST00000449557.2_Silent_p.T140T|SCN5A_ENST00000451551.2_Silent_p.T140T|SCN5A_ENST00000425664.1_Silent_p.T140T|SCN5A_ENST00000423572.2_Silent_p.T140T|SCN5A_ENST00000450102.2_Silent_p.T140T|SCN5A_ENST00000455624.2_Silent_p.T140T|SCN5A_ENST00000414099.2_Silent_p.T140T|SCN5A_ENST00000333535.4_Silent_p.T140T|SCN5A_ENST00000443581.1_Silent_p.T140T NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 140 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) TGGTGAGGATGGTGCACATGA 0.627000 3 7 0 0 0.000602 0 0 MECOM 2122 broad.mit.edu 37 3 168833916 168833916 + Missense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:168833916G>T ENST00000464456.1 - 7 2380 c.1180C>A c.(1180-1182)Ctt>Att p.L394I MECOM_ENST00000494292.1_Missense_Mutation_p.L582I|MECOM_ENST00000264674.3_Missense_Mutation_p.L459I|MECOM_ENST00000392736.3_Missense_Mutation_p.L394I|MECOM_ENST00000468789.1_Missense_Mutation_p.L394I|MECOM_ENST00000472280.1_Missense_Mutation_p.L395I|MECOM_ENST00000460814.1_Missense_Mutation_p.L394I|MECOM_ENST00000433243.2_Missense_Mutation_p.L395I 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 ACATCATCAAGGTCACTACTC 0.473000 11 82 2.27111e-07 2.47339e-07 0.013537 1 0 ZBTB8A 653121 broad.mit.edu 37 1 33058852 33058852 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:33058852T>C ENST00000373510.4 + 3 549 c.320T>C c.(319-321)aTg>aCg p.M107T RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.M107T NM_001040441.1 NP_001035531.1 Q96BR9 ZBT8A_HUMAN zinc finger and BTB domain containing 8A 107 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(2)|lung(2)|prostate(1) 7 TTCCTTCAGATGACTGATGTC 0.373000 36 77 0 0 0.003755 0 0 TMEM130 222865 broad.mit.edu 37 7 98452871 98452871 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:98452871G>A ENST00000450876.1 - 5 1858 c.543C>T c.(541-543)ttC>ttT p.F181F TMEM130_ENST00000339375.4_Silent_p.F265F|TMEM130_ENST00000416379.2_Silent_p.F265F|TMEM130_ENST00000546258.1_Silent_p.F246F|TMEM130_ENST00000345589.4_Silent_p.F163F Q8N3G9 TM130_HUMAN transmembrane protein 130 265 PKD. Golgi membrane|integral to membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) ACCTCCCCAGGAAGTTCAAGG 0.572000 30 46 0 0 0.013726 0 0 DNAH8 1769 broad.mit.edu 37 6 38905821 38905821 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:38905821G>A ENST00000359357.3 + 76 11238 c.10984G>A c.(10984-10986)Gaa>Aaa p.E3662K DNAH8_ENST00000441566.1_Missense_Mutation_p.E3626K|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.E3879K 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 TGAGGTAAGTGAAAAGTTGCA 0.498000 23 41 0 0 0.014323 0 0 SYCE1 93426 broad.mit.edu 37 10 135367795 135367795 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:135367795C>T ENST00000368517.3 - 13 986 c.848G>A c.(847-849)tGa>tAa p.*283* SYCE1_ENST00000432597.2_Silent_p.*283*|SPRN_ENST00000541506.1_Intron NM_130784.2 NP_570140.1 Q8N0S2 SYCE1_HUMAN synaptonemal complex central element protein 1 0 Gln-rich. 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) CCTCTCTCTTCAACTCCACCA 0.473000 16 45 0 0 0.008871 0 0 SNRK 54861 broad.mit.edu 37 3 43388868 43388868 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:43388868C>T ENST00000296088.7 + 7 1421 c.1117C>T c.(1117-1119)Ctt>Ttt p.L373F SNRK_ENST00000437827.1_Missense_Mutation_p.L167F|RP11-188P20.3_ENST00000607513.1_RNA|SNRK_ENST00000429705.2_Missense_Mutation_p.L373F|SNRK_ENST00000454177.1_Missense_Mutation_p.L373F NM_017719.4 NP_060189.3 Q9NRH2 SNRK_HUMAN SNF related kinase 373 myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) ACCCCAGGACCTTGAGGATGA 0.502000 31 128 0 0 0.010818 0 0 PKD1L1 168507 broad.mit.edu 37 7 47930266 47930266 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:47930266G>A ENST00000289672.2 - 16 2599 c.2549C>T c.(2548-2550)tCc>tTc p.S850F NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 850 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 TGCCTCAAAGGAAACAGTGGG 0.582000 10 39 0 0 0.006214 0 0 SLC30A10 55532 broad.mit.edu 37 1 220091654 220091654 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:220091654C>T ENST00000366926.3 - 3 1062 c.901G>A c.(901-903)Gag>Aag p.E301K SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.E56K NM_018713.2 NP_061183.2 Q6XR72 ZNT10_HUMAN solute carrier family 30, member 10 301 zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 13 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) GCAGCGGTCTCCTTGATAAGC 0.468000 39 92 0 0 0.006999 0 0 SEC62 7095 broad.mit.edu 37 3 169700524 169700524 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:169700524C>T ENST00000337002.4 + 4 339 c.281C>T c.(280-282)gCc>gTc p.A94V SEC62-AS1_ENST00000479626.1_RNA|SEC62_ENST00000480708.1_Missense_Mutation_p.A94V NM_003262.3 NP_003253.1 Q99442 SEC62_HUMAN SEC62 homolog (S. cerevisiae) 94 cotranslational protein targeting to membrane|transmembrane transport aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum protein transporter activity|receptor activity NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 9 TTTCACCGAGCCCTAAAAGTA 0.323000 8 66 0 0 0.003080 0 0 LRFN5 145581 broad.mit.edu 37 14 42360456 42360456 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:42360456G>A ENST00000298119.4 + 4 2578 c.1389G>A c.(1387-1389)atG>atA p.M463I LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron NM_152447.3 NP_689660.2 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 463 Fibronectin type-III. integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CCCTCAGAATGATACCTCCTA 0.363000 HNSCC(30;0.082) 8 26 0 0 0.003080 0 0 PSG9 5678 broad.mit.edu 37 19 43762142 43762142 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:43762142C>T ENST00000244293.7 - 4 1242 c.1176G>A c.(1174-1176)ctG>ctA p.L392L PSG9_ENST00000443718.3_Intron|PSG9_ENST00000270077.3_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000596730.1_Silent_p.L299L Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 0 Ig-like C2-type 3. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) CTACCTTTTTCAGGCCAGACA 0.478000 4 2 0 0 0.009096 0 0 GPR50 9248 broad.mit.edu 37 X 150349680 150349680 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:150349680C>T ENST00000218316.3 + 2 1694 c.1625C>T c.(1624-1626)tCc>tTc p.S542F NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 542 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CTCTCTGCCTCCCATTGCCCC 0.637000 36 13 0 0 0.004289 0 0 OR10H3 26532 broad.mit.edu 37 19 15852975 15852975 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:15852975C>T ENST00000305892.1 + 1 773 c.773C>T c.(772-774)tCc>tTc p.S258F NM_013938.1 NP_039226.1 O60404 O10H3_HUMAN olfactory receptor, family 10, subfamily H, member 3 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 AGTTTTGCCTCCCTTATCTAC 0.512000 36 61 0 0 0.013726 0 0 CBFA2T3 863 broad.mit.edu 37 16 88951529 88951529 + Missense_Mutation SNP C C A rs140507946 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:88951529C>A ENST00000268679.4 - 7 1438 c.1042G>T c.(1042-1044)Gcc>Tcc p.A348S CBFA2T3_ENST00000327483.5_Missense_Mutation_p.A262S|RP11-830F9.5_ENST00000565053.1_RNA|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.A272S|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.A262S|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.A310S NM_005187.5 NP_005178.4 O75081 MTG16_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 3 348 Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity). cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 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) TGGGCCATGGCTATGTCCTCC 0.706000 T RUNX1 AML 12 31 1.49906e-05 1.62698e-05 0.002450 1 0 RBMS3 27303 broad.mit.edu 37 3 30032613 30032613 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:30032613C>T ENST00000434693.2 + 14 1917 c.1217C>T c.(1216-1218)tCa>tTa p.S406L RBMS3_ENST00000396583.3_Missense_Mutation_p.S404L|RBMS3_ENST00000383767.2_Missense_Mutation_p.S407L|RBMS3_ENST00000452462.1_Missense_Mutation_p.S391L|RBMS3_ENST00000383766.2_Missense_Mutation_p.S389L|RBMS3_ENST00000456853.1_Missense_Mutation_p.S404L|RBMS3_ENST00000273139.9_Missense_Mutation_p.S391L|RBMS3_ENST00000473799.1_3'UTR NM_001003793.2 NP_001003793.1 Q6XE24 RBMS3_HUMAN RNA binding motif, single stranded interacting protein 3 407 cytoplasm nucleotide binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 11 Ovarian(412;0.0956) GTGGCACCTTCATCCCAGGAC 0.488000 19 34 0 0 0.010504 0 0 LRP1 4035 broad.mit.edu 37 12 57600440 57600440 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:57600440C>T ENST00000243077.3 + 76 12241 c.11775C>T c.(11773-11775)tcC>tcT p.S3925S NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3925 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) GCACCATCTCCTACCGCAGCC 0.607000 23 14 0 0 0.003954 0 0 LSAMP 4045 broad.mit.edu 37 3 115805178 115805178 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:115805178G>A ENST00000490035.1 - 2 880 c.381C>T c.(379-381)atC>atT p.I127I LSAMP_ENST00000539563.1_Silent_p.I124I NM_002338.3 NP_002329.2 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 127 cell adhesion|nervous system development anchored to membrane|plasma membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) TACCTTGTACGATCAAGTAAA 0.443000 5 22 0 0 0.000602 0 0 OR4C3 256144 broad.mit.edu 37 11 48346780 48346780 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:48346780C>T ENST00000319856.4 + 1 309 c.288C>T c.(286-288)acC>acT p.T96T NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 TTATTGACACCTTTTATTCTT 0.478000 7 101 0 0 0.001855 0 0 MROH8 140699 broad.mit.edu 37 20 35749412 35749412 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:35749412G>A ENST00000400441.3 - 16 2003 c.2004C>T c.(2002-2004)ctC>ctT p.L668L MROH8_ENST00000217333.8_Silent_p.L497L|MROH8_ENST00000441008.2_Silent_p.L654L maestro heat-like repeat family member 8 TTCTGAGGAGGAGAGTCTTTG 0.463000 7 15 0 0 0.003080 0 0 FRK 2444 broad.mit.edu 37 6 116288831 116288831 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:116288831C>T ENST00000606080.1 - 4 1128 c.682G>A c.(682-684)Gag>Aag p.E228K FRK_ENST00000538210.1_Missense_Mutation_p.E86K NM_002031.2 NP_002022.1 P42685 FRK_HUMAN fyn-related kinase 228 negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1) 27 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) CGGTCTATCTCCCATTGGTCC 0.418000 5 38 0 0 0.000602 0 0 VWA3B 200403 broad.mit.edu 37 2 98744761 98744761 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:98744761C>T ENST00000477737.1 + 6 966 c.762C>T c.(760-762)ctC>ctT p.L254L VWA3B_ENST00000435344.1_Silent_p.L254L|VWA3B_ENST00000451075.2_Silent_p.L104L NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 254 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 AGGAGCTTCTCCTCCAGAGGG 0.493000 34 55 0 0 0.013726 0 0 E2F8 79733 broad.mit.edu 37 11 19246255 19246255 + Missense_Mutation SNP G G C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:19246255G>C ENST00000527884.1 - 13 2786 c.2554C>G c.(2554-2556)Ctc>Gtc p.L852V RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.L852V NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 852 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GGGACAAAGAGAGTTCCTAAG 0.438000 10 52 0 0 0.013537 0 0 PDE1C 5137 broad.mit.edu 37 7 31855719 31855719 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:31855719C>T ENST00000396184.3 - 16 1836 c.1632G>A c.(1630-1632)gaG>gaA p.E544E PDE1C_ENST00000396191.1_Silent_p.E544E|PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000321453.7_Silent_p.E544E|PDE1C_ENST00000396193.1_Silent_p.E604E|PDE1C_ENST00000396182.2_Silent_p.E544E NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 544 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) TTTGCTGCTCCTCTGCGGCCA 0.493000 67 98 0 0 0.014410 0 0 ADAM28 10863 broad.mit.edu 37 8 24187614 24187614 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:24187614G>A ENST00000265769.4 + 11 1199 c.1089G>A c.(1087-1089)atG>atA p.M363I RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.M110I|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.M363I|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000540823.1_Missense_Mutation_p.M130I|RP11-624C23.1_ENST00000519689.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 363 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) TATGTGTGATGGACAAAGCAC 0.468000 27 47 0 0 0.007291 0 0 ILDR2 387597 broad.mit.edu 37 1 166904650 166904650 + Silent SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:166904650A>C ENST00000271417.3 - 6 823 c.768T>G c.(766-768)ccT>ccG p.P256P ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000469934.2_Silent_p.P256P|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000529071.1_Silent_p.P237P NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 256 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 GGATGGAGTAAGGGCCGGGGA 0.592000 23 42 0 0 0.002780 0 0 PTPRG 5793 broad.mit.edu 37 3 61989031 61989031 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:61989031C>T ENST00000474889.1 + 4 756 c.379C>T c.(379-381)Ctt>Ttt p.L127F PTPRG_ENST00000295874.10_Missense_Mutation_p.L127F NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 127 Alpha-carbonic anhydrase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) AGTCGCCATCCTTCTGAAAGA 0.438000 15 48 0 0 0.004007 0 0 ADAM33 80332 broad.mit.edu 37 20 3655221 3655221 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:3655221C>T ENST00000356518.2 - 6 771 c.530G>A c.(529-531)gGa>gAa p.G177E ADAM33_ENST00000379861.4_Missense_Mutation_p.G177E|ADAM33_ENST00000350009.2_Missense_Mutation_p.G177E NM_025220.2 NP_079496.1 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 177 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 GCCACAGGTTCCTTTCCAGGT 0.607000 23 76 0 0 0.004656 0 0 MICALCL 84953 broad.mit.edu 37 11 12315394 12315394 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:12315394G>A ENST00000256186.2 + 3 707 c.416G>A c.(415-417)aGg>aAg p.R139K NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 139 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) GGGAAGGACAGGAGCTGGACA 0.592000 13 14 0 0 0.013537 0 0 C12orf50 160419 broad.mit.edu 37 12 88379725 88379725 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:88379725C>T ENST00000298699.2 - 11 1208 c.1028G>A c.(1027-1029)aGg>aAg p.R343K C12orf50_ENST00000550553.1_Missense_Mutation_p.R304K NM_152589.1 NP_689802.1 Q8NA57 CL050_HUMAN chromosome 12 open reading frame 50 343 NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 CGCGACAGTCCTGACAGCATC 0.488000 49 35 0 0 0.014410 0 0 PCED1A 64773 broad.mit.edu 37 20 2816919 2816919 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:2816919G>A ENST00000360652.2 - 7 1385 c.883C>T c.(883-885)Cag>Tag p.Q295* PCED1A_ENST00000356872.3_Nonsense_Mutation_p.Q244* NM_022760.3 NP_073597.2 PC-esterase domain containing 1A TGGCTTCCCTGGAATGGATGA 0.582000 29 69 0 0 0.009535 0 0 LRRC3B 116135 broad.mit.edu 37 3 26751278 26751278 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:26751278C>T ENST00000396641.2 + 2 707 c.115C>T c.(115-117)Ctt>Ttt p.L39F LRRC3B_ENST00000417744.1_Missense_Mutation_p.L39F|LRRC3B_ENST00000456208.2_Missense_Mutation_p.L39F NM_052953.2 NP_443185.1 Q96PB8 LRC3B_HUMAN leucine rich repeat containing 3B 39 LRRNT. integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 21 CAAGGGCTGTCTTTGTTCTTC 0.443000 19 78 0 0 0.007413 0 0 XIRP2 129446 broad.mit.edu 37 2 168107877 168107877 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:168107877C>T ENST00000409195.1 + 9 10064 c.9975C>T c.(9973-9975)ttC>ttT p.F3325F XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.F3103F|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.F3325F NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 3150 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 CTGAAAATTTCGTGAATGACC 0.448000 19 53 0 0 0.006122 0 0 TG 7038 broad.mit.edu 37 8 133899330 133899330 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:133899330C>T ENST00000220616.4 + 9 1753 c.1713C>T c.(1711-1713)ctC>ctT p.L571L TG_ENST00000377869.1_Silent_p.L571L NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 571 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TTGCTTCTCTCCTGGAGCTTC 0.438000 23 35 0 0 0.002780 0 0 TAF1C 9013 broad.mit.edu 37 16 84218584 84218584 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:84218584G>A ENST00000567759.1 - 2 193 c.11C>T c.(10-12)cCc>cTc p.P4L TAF1C_ENST00000378541.4_Missense_Mutation_p.P4L|TAF1C_ENST00000341690.6_Intron|TAF1C_ENST00000541676.1_Intron|TAF1C_ENST00000566732.1_Missense_Mutation_p.P4L|TAF1C_ENST00000570117.1_Intron NM_005679.3 NP_005670.3 Q15572 TAF1C_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa 4 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 26 GAGGGAGCTGGGGAAGTCCAT 0.597000 6 19 0 0 0.001984 0 0 EPHA7 2045 broad.mit.edu 37 6 93967867 93967867 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:93967867C>T ENST00000369303.4 - 11 2244 c.2060G>A c.(2059-2061)gGg>gAg p.G687E NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 687 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) GTCAAACTGCCCCATGATGCT 0.393000 4 47 0 0 0.009096 0 0 SLC38A4 55089 broad.mit.edu 37 12 47172511 47172511 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:47172511G>A ENST00000447411.1 - 10 972 c.766C>T c.(766-768)Cac>Tac p.H256Y SLC38A4_ENST00000266579.4_Missense_Mutation_p.H256Y NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 256 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) CCAACACTGTGATCCAAAACA 0.363000 32 17 0 0 0.003755 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325191 150325191 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:150325191C>T ENST00000328902.5 - 3 711 c.495G>A c.(493-495)aaG>aaA p.K165K GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 165 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCAGGTCTTCCTTCCGGGTGA 0.627000 41 70 0 0 0.010771 0 0 XRRA1 143570 broad.mit.edu 37 11 74563124 74563124 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:74563124C>T ENST00000340360.6 - 13 1481 c.1150G>A c.(1150-1152)Gca>Aca p.A384T XRRA1_ENST00000527087.1_Intron|XRRA1_ENST00000321448.8_Missense_Mutation_p.A109T NM_182969.2 NP_892014.1 Q6P2D8 XRRA1_HUMAN X-ray radiation resistance associated 1 384 response to X-ray cytoplasm|nucleus breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3) 20 TCCTCTTTTGCGATCTGTAAT 0.527000 10 62 0 0 0.006214 0 0 NFX1 4799 broad.mit.edu 37 9 33352709 33352709 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:33352709T>C ENST00000379540.3 + 17 2783 c.2721T>C c.(2719-2721)acT>acC p.T907T NFX1_ENST00000379521.4_Silent_p.T907T NM_002504.4 NP_002495.2 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 907 inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) CATCTAGTACTTATCAAAGGT 0.378000 9 33 0 0 0.008291 0 0 KCNH5 27133 broad.mit.edu 37 14 63246599 63246599 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:63246599G>A ENST00000322893.7 - 10 2134 c.1866C>T c.(1864-1866)acC>acT p.T622T KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Silent_p.T564T NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 622 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CATGGGCAAGGGTGGTTTCCT 0.438000 5 28 0 0 0.001168 0 0 C11orf42 160298 broad.mit.edu 37 11 6232201 6232201 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:6232201G>A ENST00000316375.2 + 3 981 c.931G>A c.(931-933)Gac>Aac p.D311N NM_173525.2 NP_775796.2 Q8N5U0 CK042_HUMAN chromosome 11 open reading frame 42 311 Pro-rich. endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGGCCCCAGGGACCCCGACGG 0.632000 9 20 0 0 0.008291 0 0 COL20A1 57642 broad.mit.edu 37 20 61945238 61945238 + Nonsense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:61945238A>T ENST00000422202.1 + 17 2442 c.2374A>T c.(2374-2376)Aaa>Taa p.K792* COL20A1_ENST00000326996.6_Nonsense_Mutation_p.K785*|COL20A1_ENST00000358894.6_Nonsense_Mutation_p.K785*|COL20A1_ENST00000435874.1_Nonsense_Mutation_p.K792* Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 785 Fibronectin type-III 6. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) GGGACCCGAGAAATCCGTGAG 0.667000 5 22 0 0 0.001984 0 0 ZFP64 55734 broad.mit.edu 37 20 50701796 50701796 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:50701796G>A ENST00000361387.2 - 9 1298 c.1238C>T c.(1237-1239)cCc>cTc p.P413L ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Missense_Mutation_p.P194L NM_199427.2 NP_955459.2 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 370 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 GCACTGGAAGGGGGTATCCCC 0.542000 9 10 0 0 0.006214 0 0 KCNH8 131096 broad.mit.edu 37 3 19575008 19575008 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:19575008C>T ENST00000328405.2 + 16 3007 c.2741C>T c.(2740-2742)tCt>tTt p.S914F NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 914 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 CACAGCACCTCTGTGTGTCCC 0.522000 26 56 0 0 0.004656 0 0 TACR3 6870 broad.mit.edu 37 4 104510993 104510993 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:104510993G>A ENST00000304883.2 - 5 1384 c.1244C>T c.(1243-1245)cCc>cTc p.P415L RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 415 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) TGCATCGTTGGGGTCAAACAC 0.512000 25 112 0 0 0.006320 0 0 LIPF 8513 broad.mit.edu 37 10 90429616 90429616 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:90429616G>A ENST00000394375.3 + 6 588 c.475G>A c.(475-477)Gac>Aac p.D159N LIPF_ENST00000238983.4_Missense_Mutation_p.D149N|LIPF_ENST00000355843.2_Missense_Mutation_p.D116N NM_001198829.1 NP_001185758.1 P07098 LIPG_HUMAN lipase, gastric 149 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6) 13 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) GGCTAAATATGACCTTCCAGC 0.378000 18 73 0 0 0.006122 0 0 ERVFRD-1 405754 broad.mit.edu 37 6 11104936 11104936 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:11104936C>T ENST00000472091.1 - 2 983 c.608G>A c.(607-609)cGa>cAa p.R203Q ERVFRD-1_ENST00000542862.1_Missense_Mutation_p.R203Q|SMIM13_ENST00000416247.2_Intron NM_207582.2 NP_997465.1 P60508 EFRD1_HUMAN 203 integral to membrane|plasma membrane|virion p.R203Q(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1) 15 CCAGAAGTTTCGAGTACTGCA 0.463000 35 77 0 0 0.003755 0 0 SLC6A18 348932 broad.mit.edu 37 5 1239564 1239564 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:1239564G>A ENST00000324642.3 + 6 855 c.e6-1 SLC6A18_ENST00000296821.4_Intron NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) ACTCATTCCAGATGCACATTC 0.567000 13 47 0 0 0.002450 0 0 CCDC88C 440193 broad.mit.edu 37 14 91804373 91804373 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:91804373C>T ENST00000389857.6 - 10 1112 c.1026G>A c.(1024-1026)gtG>gtA p.V342V NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 342 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TGTAGAAGTCCACGTCGTGCA 0.612000 10 25 0 0 0.001855 0 0 DNAH17 8632 broad.mit.edu 37 17 76482381 76482381 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:76482381G>A ENST00000389840.5 - 45 7108 c.6984C>T c.(6982-6984)tcC>tcT p.S2328S DNAH17_ENST00000585328.1_Silent_p.S2337S|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GCTCCCTGGGGGAGTCGGGGG 0.622000 28 14 0 0 0.007291 0 0 NLRC5 84166 broad.mit.edu 37 16 57060342 57060342 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:57060342C>T ENST00000436936.1 + 6 1712 c.1487C>T c.(1486-1488)tCc>tTc p.S496F NLRC5_ENST00000539144.1_Missense_Mutation_p.S496F|NLRC5_ENST00000262510.6_Missense_Mutation_p.S496F|NLRC5_ENST00000308149.7_Missense_Mutation_p.S496F Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 496 NACHT. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) CTGCTGACTTCCTTCTGCGTC 0.577000 16 36 0 0 0.004007 0 0 ROR2 4920 broad.mit.edu 37 9 94486388 94486388 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:94486388G>A ENST00000375708.3 - 9 2586 c.2388C>T c.(2386-2388)ttC>ttT p.F796F ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 796 Pro-rich. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GGGGCTGTGGGAAGGGCGGGG 0.677000 21 52 0 0 0.003330 0 0 ANKH 56172 broad.mit.edu 37 5 14758692 14758692 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:14758692C>T ENST00000284268.6 - 3 659 c.329G>A c.(328-330)gGa>gAa p.G110E NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 110 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 AATGTAGTATCCTAAATCACT 0.398000 20 33 0 0 0.014323 0 0 NCKAP5 344148 broad.mit.edu 37 2 133489315 133489315 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:133489315G>A ENST00000409261.1 - 17 5811 c.5438C>T c.(5437-5439)tCc>tTc p.S1813F NCKAP5_ENST00000317721.6_Missense_Mutation_p.S1813F|NCKAP5_ENST00000409213.1_Missense_Mutation_p.S494F|NCKAP5_ENST00000405974.3_Missense_Mutation_p.S494F NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1813 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TTTACCTGAGGAAGCTGGTTT 0.507000 22 49 0 0 0.014323 0 0 SVEP1 79987 broad.mit.edu 37 9 113192662 113192662 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:113192662C>T ENST00000401783.2 - 33 5758 c.5422G>A c.(5422-5424)Ggt>Agt p.G1808S SVEP1_ENST00000374469.1_Missense_Mutation_p.G1785S NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1808 Sushi 7. 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 ACTTCGGCACCTACTGTATAA 0.408000 7 17 0 0 0.001984 0 0 C1orf173 127254 broad.mit.edu 37 1 75065462 75065462 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:75065462G>A ENST00000326665.5 - 11 1861 c.1643C>T c.(1642-1644)tCa>tTa p.S548L RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.S351L NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 548 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TGCCTTCTGTGATGAGGTTTC 0.423000 46 66 0 0 0.010771 0 0 SNTG1 54212 broad.mit.edu 37 8 51569490 51569490 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:51569490G>A ENST00000522124.1 + 14 1532 c.871G>A c.(871-873)Gaa>Aaa p.E291K SNTG1_ENST00000518864.1_Missense_Mutation_p.E291K|SNTG1_ENST00000517473.1_Missense_Mutation_p.E291K|SNTG1_ENST00000276467.5_Missense_Mutation_p.E291K NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 291 PH. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) GGGCTGGTGTGAAGCCCGGGA 0.453000 13 71 0 0 0.004990 0 0 WWP2 11060 broad.mit.edu 37 16 69922004 69922004 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:69922004C>T ENST00000359154.2 + 8 867 c.766C>T c.(766-768)Cca>Tca p.P256S WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Missense_Mutation_p.P256S|WWP2_ENST00000569174.1_Missense_Mutation_p.P256S|WWP2_ENST00000356003.2_Missense_Mutation_p.P256S|WWP2_ENST00000542271.1_Missense_Mutation_p.P140S NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 256 entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TGTGACGTCCCCACCTGCTGC 0.532000 36 62 0 0 0.007835 0 0 KMT2B 9757 broad.mit.edu 37 19 36224547 36224547 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:36224547C>T ENST00000420124.1 + 29 7009 c.7009C>T c.(7009-7011)Ctg>Ttg p.L2337L KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Silent_p.L2337L GGTCCTTGACCTGGATCGGCC 0.657000 4 9 0 0 0.001168 0 0 IMPA2 3613 broad.mit.edu 37 18 12012207 12012207 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:12012207G>A ENST00000269159.3 + 4 616 c.374G>A c.(373-375)cGa>cAa p.R125Q 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 2 125 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) TTTGCTGTTCGACAAGAGGTG 0.582000 30 136 0 0 0.004289 0 0 BMPR2 659 broad.mit.edu 37 2 203420895 203420895 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:203420895C>T ENST00000374580.4 + 12 3046 c.2507C>T c.(2506-2508)aCc>aTc p.T836I BMPR2_ENST00000374574.2_Intron NM_001204.6 NP_001195.2 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor, type II (serine/threonine kinase) 836 anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 42 GGCCAAACAACCAACATAGTG 0.468000 22 32 0 0 0.012319 0 0 SLC29A4 222962 broad.mit.edu 37 7 5338676 5338676 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:5338676G>A ENST00000396872.2 + 8 1101 c.940G>A c.(940-942)Gag>Aag p.E314K SLC29A4_ENST00000406453.3_Missense_Mutation_p.E300K|SLC29A4_ENST00000297195.4_Missense_Mutation_p.E314K NM_001040661.1|NM_153247.2 NP_001035751.1|NP_694979.2 Q7RTT9 S29A4_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 4 314 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1) 20 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) CCCAGCCCACGAGGTGACCGG 0.692000 8 13 0 0 0.003080 0 0 SRGAP3 9901 broad.mit.edu 37 3 9089102 9089102 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:9089102C>T ENST00000383836.3 - 10 1808 c.1381G>A c.(1381-1383)Gat>Aat p.D461N SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.D461N NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 461 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) TTGAGTAAATCGTGCTTGGCC 0.547000 T RAF1 pilocytic astrocytoma 6 58 0 0 0.001984 0 0 P2RY12 64805 broad.mit.edu 37 3 151056296 151056296 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:151056296G>A ENST00000302632.3 - 3 637 c.338C>T c.(337-339)tCa>tTa p.S113L MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron NM_022788.4|NM_176876.2 NP_073625.1|NP_795345.1 Q9H244 P2Y12_HUMAN purinergic receptor P2Y, G-protein coupled, 12 113 platelet activation integral to membrane|plasma membrane guanyl-nucleotide exchange factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1) 17 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374) TCCCAGGAATGAAATACTGAT 0.403000 15 62 0 0 0.003163 0 0 LRP2BP 55805 broad.mit.edu 37 4 186295301 186295301 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:186295301C>T ENST00000362004.3 - 5 1384 c.573G>A c.(571-573)aaG>aaA p.K191K LRP2BP_ENST00000328559.7_Silent_p.K189K|LRP2BP_ENST00000510776.1_Silent_p.K163K|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000505916.1_Silent_p.K189K Q9P2M1 LR2BP_HUMAN LRP2 binding protein 189 cytoplasm protein binding breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2) 15 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161) TTTCTAACTCCTTGGGCTCCT 0.403000 19 21 0 0 0.008871 0 0 SERPINB12 89777 broad.mit.edu 37 18 61232681 61232681 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:61232681G>A ENST00000382768.1 + 6 709 c.709G>A c.(709-711)Gaa>Aaa p.E237K SERPINB12_ENST00000269491.1_Missense_Mutation_p.E217K Q96P63 SPB12_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 12 217 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 ACTACAGAATGAAAACAAGAG 0.483000 18 62 0 0 0.007413 0 0 CHRNA1 1134 broad.mit.edu 37 2 175622373 175622373 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:175622373G>A ENST00000348749.5 - 4 342 c.265C>T c.(265-267)Cca>Tca p.P89S CHRNA1_ENST00000409323.1_Missense_Mutation_p.P89S|CHRNA1_ENST00000261007.5_Missense_Mutation_p.P114S|CHRNA1_ENST00000409219.1_Missense_Mutation_p.P89S|CHRNA1_ENST00000409542.1_Intron|AC018890.6_ENST00000442996.1_RNA NM_000079.3 NP_000070.1 P02708 ACHA_HUMAN cholinergic receptor, nicotinic, alpha 1 (muscle) 114 muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4) 37 TAGTCATCTGGATTCCATTTT 0.393000 17 36 0 0 0.008871 0 0 PTGFR 5737 broad.mit.edu 37 1 79002314 79002314 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:79002314C>T ENST00000370757.3 + 3 1259 c.1022C>T c.(1021-1023)tCc>tTc p.S341F PTGFR_ENST00000370756.3_3'UTR|PTGFR_ENST00000370758.1_Missense_Mutation_p.S341F NM_000959.3 NP_000950.1 P43088 PF2R_HUMAN prostaglandin F receptor (FP) 341 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) ATTAAAAATTCCTTAAAGGTT 0.408000 14 26 0 0 0.002450 0 0 CACNA1F 778 broad.mit.edu 37 X 49081361 49081361 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:49081361G>A ENST00000376265.2 - 14 1833 c.1772C>T c.(1771-1773)tCc>tTc p.S591F CACNA1F_ENST00000323022.5_Missense_Mutation_p.S580F|CACNA1F_ENST00000376251.1_Missense_Mutation_p.S526F NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 591 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) GTTGAAGAAGGAAGACACATA 0.552000 3 4 0 0 0.000602 0 0 CDH18 1016 broad.mit.edu 37 5 19473628 19473628 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:19473628C>T ENST00000507958.1 - 15 3070 c.2080G>A c.(2080-2082)Gaa>Aaa p.E694K CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.E694K|CDH18_ENST00000274170.4_Missense_Mutation_p.E694K Q13634 CAD18_HUMAN cadherin 18, type 2 694 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) AGCTTCACTTCAGGTCTGATA 0.507000 18 18 0 0 0.004990 0 0 FYN 2534 broad.mit.edu 37 6 112025283 112025283 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:112025283G>A ENST00000354650.3 - 7 1072 c.466C>T c.(466-468)Cga>Tga p.R156* FYN_ENST00000229470.5_Nonsense_Mutation_p.R107*|FYN_ENST00000476769.2_5'UTR|FYN_ENST00000368667.2_Nonsense_Mutation_p.R156*|FYN_ENST00000368682.3_Nonsense_Mutation_p.R156*|FYN_ENST00000229471.4_Nonsense_Mutation_p.R156*|FYN_ENST00000538466.1_Nonsense_Mutation_p.R156*|FYN_ENST00000368678.4_Nonsense_Mutation_p.R156*|FYN_ENST00000356013.2_Nonsense_Mutation_p.R156* NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 156 SH2. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) GCATCTTTTCGGCCAAGTTTT 0.383000 18 47 0 0 0.008871 0 0 LY75 4065 broad.mit.edu 37 2 160738809 160738809 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:160738809C>T ENST00000263636.4 - 7 1099 c.1072G>A c.(1072-1074)Gat>Aat p.D358N LY75_ENST00000554112.1_Missense_Mutation_p.D358N|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.D358N|LY75_ENST00000553424.1_Missense_Mutation_p.D358N|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.D358N NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) CAGCGGGTATCTGAGTATGTC 0.388000 11 68 0 0 0.013537 0 0 SPTBN2 6712 broad.mit.edu 37 11 66475083 66475083 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:66475083C>T ENST00000533211.1 - 13 1888 c.1557G>A c.(1555-1557)atG>atA p.M519I SPTBN2_ENST00000529997.1_Missense_Mutation_p.M519I|SPTBN2_ENST00000309996.2_Missense_Mutation_p.M519I O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 519 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 GGGCGGCCACCATCTGCCGCA 0.647000 12 27 0 0 0.013537 0 0 SULT4A1 25830 broad.mit.edu 37 22 44237795 44237795 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:44237795C>T ENST00000330884.4 - 2 307 c.187G>A c.(187-189)Gag>Aag p.E63K SULT4A1_ENST00000249130.5_Missense_Mutation_p.E63K|SULT4A1_ENST00000540422.1_Intron NM_014351.3 NP_055166.1 Q9BR01 ST4A1_HUMAN sulfotransferase family 4A, member 1 63 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol sulfotransferase activity kidney(1)|large_intestine(3)|lung(4)|ovary(1) 9 Ovarian(80;0.024)|all_neural(38;0.0416) Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419) TAGACCACCTCCTGCAGCAAG 0.677000 8 24 0 0 0.006214 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642985 1642985 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:1642985G>A ENST00000399682.1 - 1 383 c.339C>T c.(337-339)tcC>tcT p.S113S NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 113 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) AACCCCCACAGGAGCCACAGC 0.667000 6 98 0 0 0.013537 0 0 SLITRK3 22865 broad.mit.edu 37 3 164907932 164907932 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:164907932C>T ENST00000475390.1 - 2 1130 c.687G>A c.(685-687)ctG>ctA p.L229L SLITRK3_ENST00000241274.3_Silent_p.L229L O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 229 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 GGTTTTCTTCCAGCTGGAGCT 0.448000 HNSCC(40;0.11) 22 30 0 0 0.003954 0 0 CTNNA2 1496 broad.mit.edu 37 2 80136838 80136838 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:80136838G>A ENST00000466387.1 + 11 1695 c.971G>A c.(970-972)cGa>cAa p.R324Q CTNNA2_ENST00000496558.1_Missense_Mutation_p.R324Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R324Q|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R324Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R358Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R324Q P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 324 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 TCCTGCACGCGAGACGACCGG 0.647000 8 54 0 0 0.003080 0 0 PSKH2 85481 broad.mit.edu 37 8 87076500 87076500 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:87076500C>T ENST00000276616.2 - 2 620 c.546G>A c.(544-546)agG>agA p.R182R PSKH2_ENST00000517981.1_5'UTR NM_033126.1 NP_149117.1 Q96QS6 KPSH2_HUMAN protein serine kinase H2 182 Protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1) 47 STAD - Stomach adenocarcinoma(118;0.129) GCTTTAGATTCCTATGAGTTA 0.433000 14 42 0 0 0.002450 0 0 OR4N2 390429 broad.mit.edu 37 14 20296445 20296445 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:20296445C>T ENST00000315947.1 + 1 838 c.838C>T c.(838-840)Cct>Tct p.P280S OR4N2_ENST00000568211.1_3'UTR NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGTGATTTTTCCTTTGTTGAA 0.438000 10 100 0 0 0.006214 0 0 MAGEA6 4105 broad.mit.edu 37 X 151870060 151870060 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:151870060C>T ENST00000329342.5 + 3 975 c.750C>T c.(748-750)ttC>ttT p.F250F NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 250 MAGE. protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) CCCAATATTTCGTGCAGGAAA 0.537000 80 24 0 0 0.014410 0 0 SLC5A11 115584 broad.mit.edu 37 16 24873970 24873970 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:24873970G>A ENST00000347898.3 + 3 806 c.184G>A c.(184-186)Gga>Aga p.G62R SLC5A11_ENST00000545376.1_Missense_Mutation_p.G62R|SLC5A11_ENST00000424767.2_Missense_Mutation_p.G62R|SLC5A11_ENST00000449109.2_5'UTR|SLC5A11_ENST00000569071.1_5'UTR|SLC5A11_ENST00000568579.1_Missense_Mutation_p.G62R|SLC5A11_ENST00000565769.1_5'UTR|SLC5A11_ENST00000567758.1_Missense_Mutation_p.G62R|SLC5A11_ENST00000539472.1_5'UTR NM_052944.3 NP_443176.2 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 62 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) CTTCCTGGCTGGAGGGGACAT 0.458000 13 31 0 0 0.003163 0 0 SEMA7A 8482 broad.mit.edu 37 15 74707193 74707193 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:74707193G>A ENST00000261918.4 - 9 1629 c.1081C>T c.(1081-1083)Ccg>Tcg p.P361S SEMA7A_ENST00000543145.2_Missense_Mutation_p.P347S|SEMA7A_ENST00000542748.1_Missense_Mutation_p.P196S NM_003612.3 NP_003603.1 O75326 SEM7A_HUMAN semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) 361 Sema. axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response anchored to membrane|external side of plasma membrane receptor activity breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 30 CCAGGCCGCGGGTTGGGAAGG 0.622000 8 46 0 0 0.006214 0 0 TRAV9-2 28677 broad.mit.edu 37 14 22409825 22409825 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:22409825G>A ENST00000390441.2 + 0 371 CAGACTCAGCGGTGTACTTCT 0.537000 16 28 0 0 0.004990 0 0 ZNF135 7694 broad.mit.edu 37 19 58578377 58578377 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:58578377C>T ENST00000506786.1 + 5 953 c.399C>T c.(397-399)ctC>ctT p.L133L ZNF135_ENST00000511556.1_Silent_p.L187L|ZNF135_ENST00000401053.4_Silent_p.L199L|ZNF135_ENST00000313434.5_Silent_p.L175L|ZNF135_ENST00000359978.6_Silent_p.L187L|ZNF135_ENST00000439855.2_Silent_p.L175L B4DHH9 B4DHH9_HUMAN zinc finger protein 135 187 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) ACCCTGATCTCCCACATCAAC 0.522000 6 31 0 0 0.003080 0 0 URAD 646625 broad.mit.edu 37 13 28562651 28562651 + Nonsense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:28562651C>A ENST00000332715.4 - 1 123 c.124G>T c.(124-126)Gaa>Taa p.E42* NM_001105577.1 NP_001099047.1 ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase TCTAAATCTTCCAAATCAGAG 0.458000 6 41 0.00116845 0.00126337 0.001168 1 0 DNAH3 55567 broad.mit.edu 37 16 21073850 21073850 + Nonsense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:21073850T>A ENST00000261383.3 - 25 3672 c.3673A>T c.(3673-3675)Aaa>Taa p.K1225* DNAH3_ENST00000415178.1_Nonsense_Mutation_p.K1225* NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1225 Stem (By similarity). 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) ACAGTTTCTTTTTCCGAGCTG 0.428000 24 50 0 0 0.003330 0 0 SUFU 51684 broad.mit.edu 37 10 104309776 104309776 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:104309776C>T ENST00000369902.3 + 3 533 c.367C>T c.(367-369)Cgt>Tgt p.R123C SUFU_ENST00000423559.2_Missense_Mutation_p.R123C|SUFU_ENST00000369899.2_Missense_Mutation_p.R123C NM_016169.3 NP_057253.2 Q9UMX1 SUFU_HUMAN suppressor of fused homolog (Drosophila) 123 negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 24 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) GTTGACCTTTCGTCTGAAGAG 0.478000 """D, F, S""" medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation 13 36 0 0 0.004007 0 0 POU2AF1 5450 broad.mit.edu 37 11 111225262 111225262 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:111225262C>T ENST00000393067.3 - 5 1009 c.495G>A c.(493-495)ctG>ctA p.L165L NM_006235.2 NP_006226.2 Q16633 OBF1_HUMAN POU class 2 associating factor 1 165 humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|kidney(2)|lung(2) 5 all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364) CTGGGCCCTCCAGCGGGGGCC 0.652000 T BCL6 NHL 4 23 0 0 0.009096 0 0 FAAH2 158584 broad.mit.edu 37 X 57337090 57337090 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:57337090G>A ENST00000374900.4 + 3 460 c.340G>A c.(340-342)Gaa>Aaa p.E114K NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 114 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 GCAGGAAGATGAAGCCACCCT 0.408000 HNSCC(52;0.14) 10 7 0 0 0.006214 0 0 LHFPL4 375323 broad.mit.edu 37 3 9547816 9547816 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:9547816C>T ENST00000287585.6 - 3 763 c.478G>A c.(478-480)Ggg>Agg p.G160R NM_198560.2 NP_940962.1 Q7Z7J7 LHPL4_HUMAN lipoma HMGIC fusion partner-like 4 160 integral to membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1) 10 Medulloblastoma(99;0.227) GTCTTGGCCCCACACATGTCC 0.627000 23 48 0 0 0.003330 0 0 MED16 10025 broad.mit.edu 37 19 880010 880010 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:880010G>A ENST00000312090.6 - 8 1430 c.1280C>T c.(1279-1281)cCc>cTc p.P427L MED16_ENST00000395808.3_Missense_Mutation_p.P427L|MED16_ENST00000325464.1_Missense_Mutation_p.P427L|MED16_ENST00000589119.1_Missense_Mutation_p.P427L|MED16_ENST00000606828.1_Intron|MED16_ENST00000269814.4_Missense_Mutation_p.P427L Q9Y2X0 MED16_HUMAN mediator complex subunit 16 427 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGGACGGCGGGGCCCGCGGT 0.687000 7 15 0 0 0.003080 0 0 TFPI2 7980 broad.mit.edu 37 7 93518426 93518426 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:93518426G>A ENST00000222543.5 - 3 693 c.381C>T c.(379-381)tcC>tcT p.S127S TFPI2_ENST00000545378.1_Intron|GNGT1_ENST00000455502.1_Intron NM_006528.3 NP_006519.1 P48307 TFPI2_HUMAN tissue factor pathway inhibitor 2 127 BPTI/Kunitz inhibitor 2. 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) GACACCCACCGGAAAAGAATT 0.438000 54 68 0 0 0.014410 0 0 FOLR1 2348 broad.mit.edu 37 11 71907035 71907035 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:71907035C>T ENST00000393679.1 + 5 1024 c.588C>T c.(586-588)tcC>tcT p.S196S FOLR1_ENST00000393681.2_Silent_p.S196S|FOLR1_ENST00000312293.4_Silent_p.S196S|FOLR1_ENST00000393676.3_Silent_p.S196S|RP11-807H22.7_ENST00000378140.3_RNA P15328 FOLR1_HUMAN folate receptor 1 (adult) 196 cell death|folic acid transport|receptor-mediated endocytosis anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction folic acid binding|receptor activity cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 14 GGACTCACTCCTACAAGGTCA 0.557000 25 58 0 0 0.003954 0 0 FSIP2 401024 broad.mit.edu 37 2 186671598 186671598 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:186671598C>T ENST00000343098.5 + 17 17832 c.17832C>T c.(17830-17832)ttC>ttT p.F5944F FSIP2_ENST00000424728.1_Silent_p.F5855F NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 GAAATCAGTTCCCTGGGGGTA 0.403000 16 40 0 0 0.004990 0 0 CABYR 26256 broad.mit.edu 37 18 21736152 21736152 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:21736152G>A ENST00000399481.2 + 2 545 c.393G>A c.(391-393)aaG>aaA p.K131K CABYR_ENST00000327201.6_Intron|CABYR_ENST00000399499.1_Intron|CABYR_ENST00000415309.2_Intron|CABYR_ENST00000399496.3_Intron|CABYR_ENST00000581397.1_Intron O75952 CABYR_HUMAN calcium binding tyrosine-(Y)-phosphorylation regulated 229 ciliary or flagellar motility|signal transduction|sperm capacitation cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding breast(1)|endometrium(2)|large_intestine(4)|lung(4) 11 all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17) GTTCTGGAAAGGTGCTAGAAG 0.488000 15 24 0 0 0.002450 0 0 DRD2 1813 broad.mit.edu 37 11 113283471 113283471 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:113283471G>A ENST00000362072.3 - 7 1289 c.945C>T c.(943-945)ctC>ctT p.L315L DRD2_ENST00000355319.2_Silent_p.L317L|DRD2_ENST00000538967.1_Silent_p.L317L|DRD2_ENST00000346454.3_Silent_p.L286L|DRD2_ENST00000544518.1_Silent_p.L314L|DRD2_ENST00000542968.1_Silent_p.L315L NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 315 Interaction with PPP1R9B (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) GAGTGCTGTGGAGACCATGGT 0.612000 18 37 0 0 0.002780 0 0 RYR2 6262 broad.mit.edu 37 1 237796931 237796931 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:237796931C>T ENST00000366574.2 + 43 6926 c.6609C>T c.(6607-6609)ttC>ttT p.F2203F RYR2_ENST00000542537.1_Silent_p.F2187F|RYR2_ENST00000360064.6_Silent_p.F2201F NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2203 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCTGTTACTTCTGTCGTATAA 0.378000 55 121 0 0 0.014410 0 0 TEX15 56154 broad.mit.edu 37 8 30706067 30706067 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:30706067G>A ENST00000256246.2 - 1 541 c.467C>T c.(466-468)tCc>tTc p.S156F NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 156 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AATTGGGAAGGAAAAATTACC 0.458000 18 37 0 0 0.004990 0 0 NPR2 4882 broad.mit.edu 37 9 35792814 35792814 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:35792814C>T ENST00000342694.2 + 1 664 c.409C>T c.(409-411)Cgt>Tgt p.R137C NM_003995.3 NP_003986.2 P20594 ANPRB_HUMAN natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) 137 intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) TGACCATTATCGTACCCTGGT 0.602000 6 58 0 0 0.003080 0 0 EIF4G1 1981 broad.mit.edu 37 3 184043640 184043640 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:184043640C>T ENST00000342981.4 + 20 3540 c.3124_splice c.e20-1 p.S1042_splice EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_Splice_Site_p.S1048_splice|EIF4G1_ENST00000392537.2_Splice_Site_p.S954_splice|EIF4G1_ENST00000350481.5_Splice_Site_p.S877_splice|EIF4G1_ENST00000414031.1_Splice_Site_p.S1001_splice|EIF4G1_ENST00000427845.1_Splice_Site_p.S955_splice|EIF4G1_ENST00000319274.6_Splice_Site_p.S1041_splice|EIF4G1_ENST00000441154.1_Splice_Site_p.S878_splice|EIF4G1_ENST00000352767.3_Splice_Site_p.S1048_splice|EIF4G1_ENST00000411531.1_Splice_Site_p.S1002_splice|EIF4G1_ENST00000346169.2_Splice_Site_p.S1041_splice|EIF4G1_ENST00000434061.2_Splice_Site_p.S846_splice|EIF4G1_ENST00000435046.2_Splice_Site_p.S845_splice|EIF4G1_ENST00000424196.1_Splice_Site_p.S1048_splice NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 1041 eIF3/EIF4A-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TTGTGTCAGGCCGTGGACTTC 0.552000 36 137 0 0 0.013114 0 0 RGPD4 285190 broad.mit.edu 37 2 108488514 108488514 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:108488514G>A ENST00000408999.3 + 20 4131 c.4054G>A c.(4054-4056)Gaa>Aaa p.E1352K RGPD4_ENST00000354986.4_Missense_Mutation_p.E1352K NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1352 RanBD1 2. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 CAGTGGTGAGGAAAATGAAAA 0.368000 60 196 0 0 0.014410 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140735401 140735401 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140735401C>T ENST00000571252.1 + 1 634 c.634C>T c.(634-636)Ctc>Ttc p.L212F PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCACCTCGTTCTCACGGCCTT 0.567000 3 1 0 0 0.004672 0 0 ITPRIP 85450 broad.mit.edu 37 10 106074331 106074331 + Silent SNP G G A rs147963751 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:106074331G>A ENST00000278071.2 - 3 1931 c.1479C>T c.(1477-1479)gcC>gcT p.A493A ITPRIP_ENST00000337478.1_Silent_p.A493A|ITPRIP_ENST00000358187.2_Silent_p.A493A NM_033397.2 NP_203755.1 Q8IWB1 IPRI_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein 493 plasma membrane breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1) 20 CCCTGAGCACGGCCTCAGGGA 0.577000 18 47 0 0 0.010504 0 0 ACTN2 88 broad.mit.edu 37 1 236918447 236918447 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:236918447C>T ENST00000366578.4 + 17 2269 c.2103C>T c.(2101-2103)ctC>ctT p.L701L ACTN2_ENST00000546208.1_Silent_p.L195L|ACTN2_ENST00000542672.1_Silent_p.L701L NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 701 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) ACCATCAGCTCATCCAGGAGG 0.537000 51 98 0 0 0.014410 0 0 KRTAP9-2 83899 broad.mit.edu 37 17 39382951 39382951 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:39382951G>A ENST00000377721.3 + 1 52 c.45G>A c.(43-45)agG>agA p.R15R KRTAP9-2_ENST00000455970.2_Silent_p.R15R NM_031961.2 NP_114167.2 Q9BYQ4 KRA92_HUMAN keratin associated protein 9-2 15 17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP]. keratin filament protein binding large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CCTGCTGCAGGACCACCTGCT 0.622000 22 73 0 0 0.005443 0 0 TTN 7273 broad.mit.edu 37 2 179612279 179612279 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179612279C>T ENST00000360870.5 - 46 15070 c.14848G>A c.(14848-14850)Gaa>Aaa p.E4950K TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1068 Ig-like 30. 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) TTGTAGTATTCATACACAGTG 0.428000 21 44 0 0 0.002780 0 0 USP6NL 9712 broad.mit.edu 37 10 11505080 11505080 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:11505080G>A ENST00000379237.1 - 15 2241 c.1847C>T c.(1846-1848)cCg>cTg p.P616L USP6NL_ENST00000277575.5_Missense_Mutation_p.P633L NM_014688.2 NP_055503.1 Q92738 US6NL_HUMAN USP6 N-terminal like 616 intracellular Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 TAGCTGGGACGGATATCGTGC 0.527000 6 24 0 0 0.001984 0 0 ATP2B3 492 broad.mit.edu 37 X 152825335 152825335 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:152825335T>A ENST00000370186.1 + 16 3058 c.2732T>A c.(2731-2733)aTg>aAg p.M911K ATP2B3_ENST00000263519.4_Missense_Mutation_p.M925K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.M925K|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000393842.1_Missense_Mutation_p.M911K|ATP2B3_ENST00000370181.2_Missense_Mutation_p.M911K|ATP2B3_ENST00000349466.2_Missense_Mutation_p.M925K Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 925 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCCCGCACCATGATGAAGAAC 0.637000 13 7 0 0 0.001855 0 0 CADPS 8618 broad.mit.edu 37 3 62451123 62451123 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:62451123G>A ENST00000383710.4 - 26 3904 c.3555C>T c.(3553-3555)ttC>ttT p.F1185F CADPS_ENST00000357948.3_Silent_p.F1106F|CADPS_ENST00000283269.9_Silent_p.F1146F|CADPS_ENST00000462768.1_5'UTR NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 1185 Mediates targeting and association with DCVs (By similarity). exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding p.F1146F(1) breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) AGATAGTAACGAACTAGAAAA 0.358000 47 100 0 0 0.011902 0 0 ZNF292 23036 broad.mit.edu 37 6 87964474 87964474 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:87964474C>T ENST00000369577.3 + 8 1170 c.1127C>T c.(1126-1128)tCa>tTa p.S376L ZNF292_ENST00000339907.4_Missense_Mutation_p.S371L NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 376 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) AAGACCATTTCATGTTTGTTG 0.403000 21 53 0 0 0.002780 0 0 TSPEAR 54084 broad.mit.edu 37 21 45987759 45987759 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr21:45987759G>A ENST00000323084.4 - 2 278 c.213C>T c.(211-213)ttC>ttT p.F71F TSPEAR_ENST00000397916.1_Silent_p.F3F NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 71 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 TGGATGCTGGGAAGCTCATGG 0.557000 9 50 0 0 0.006214 0 0 CFHR2 3080 broad.mit.edu 37 1 196928152 196928152 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:196928152C>T ENST00000367415.4 + 5 869 c.755C>T c.(754-756)tCa>tTa p.S252L CFHR2_ENST00000367421.3_Missense_Mutation_p.S252L|CFHR2_ENST00000476712.1_3'UTR NM_005666.2 NP_005657.1 P36980 FHR2_HUMAN complement factor H-related 2 252 Sushi 4. extracellular region large_intestine(2)|ovary(1)|skin(3) 6 AAATCTCATTCATTTCGAGCA 0.323000 15 34 0 0 0.006122 0 0 NOX5 79400 broad.mit.edu 37 15 69325563 69325563 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:69325563C>T ENST00000260364.5 + 6 1048 c.747C>T c.(745-747)gtC>gtT p.V249V NOX5_ENST00000388866.3_Silent_p.V267V|NOX5_ENST00000530406.2_Silent_p.V239V|NOX5_ENST00000448182.3_Silent_p.V221V|NOX5_ENST00000455873.3_Silent_p.V232V Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 267 angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 GCGCCAGCGTCATGGTGGCCA 0.647000 6 20 0 0 0.001984 0 0 PRDM5 11107 broad.mit.edu 37 4 121720822 121720822 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:121720822G>A ENST00000264808.3 - 9 1264 c.1024C>T c.(1024-1026)Cac>Tac p.H342Y PRDM5_ENST00000515109.1_Missense_Mutation_p.H311Y|PRDM5_ENST00000428209.2_Missense_Mutation_p.H311Y NM_018699.2 NP_061169.2 Q9NQX1 PRDM5_HUMAN PR domain containing 5 342 histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 TTACCTGAGTGGGTGATCATA 0.299000 8 11 0 0 0.003080 0 0 PCDHA6 56142 broad.mit.edu 37 5 140208481 140208481 + Missense_Mutation SNP C C T rs138760871 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140208481C>T ENST00000529310.1 + 1 919 c.805C>T c.(805-807)Cgg>Tgg p.R269W PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.R269W|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTTCTGATCGGGATGAAGG 0.398000 13 35 0 0 0.001855 0 0 MORC2 22880 broad.mit.edu 37 22 31331295 31331295 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:31331295G>A ENST00000215862.4 - 19 2929 c.1566C>T c.(1564-1566)atC>atT p.I522I MORC2_ENST00000397641.2_Silent_p.I584I NM_014941.1 NP_055756.1 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 584 ATP binding|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 CTTGGGAGCGGATGGGTGTGG 0.483000 5 26 0 0 0.001984 0 0 DNAH10 196385 broad.mit.edu 37 12 124364269 124364269 + Missense_Mutation SNP T T G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:124364269T>G ENST00000409039.3 + 49 8226 c.8201T>G c.(8200-8202)tTc>tGc p.F2734C NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2734 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TTTGGAGACTTCCAGATGGCT 0.512000 102 71 0 0 0.014410 0 0 EPHB1 2047 broad.mit.edu 37 3 134920528 134920528 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:134920528C>T ENST00000398015.3 + 12 2713 c.2343C>T c.(2341-2343)tcC>tcT p.S781S EPHB1_ENST00000493838.1_Silent_p.S342S NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 781 Protein kinase. 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 ACACCAGCTCCTTGGTGAGTC 0.537000 5 23 0 0 0.001984 0 0 PTPRD 5789 broad.mit.edu 37 9 8517893 8517893 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:8517893C>T ENST00000381196.4 - 18 2041 c.1498G>A c.(1498-1500)Gat>Aat p.D500N PTPRD_ENST00000358503.5_Missense_Mutation_p.D487N|PTPRD_ENST00000537002.1_Missense_Mutation_p.D497N|PTPRD_ENST00000486161.1_Missense_Mutation_p.D500N|PTPRD_ENST00000356435.5_Missense_Mutation_p.D500N|PTPRD_ENST00000397606.3_Missense_Mutation_p.D490N|PTPRD_ENST00000397617.3_Missense_Mutation_p.D490N|PTPRD_ENST00000355233.5_Missense_Mutation_p.D500N|PTPRD_ENST00000360074.4_Missense_Mutation_p.D487N|PTPRD_ENST00000397611.3_Missense_Mutation_p.D497N|PTPRD_ENST00000540109.1_Missense_Mutation_p.D500N NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 500 Fibronectin type-III 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AGGGGACCATCTCCAATTGAG 0.463000 TSP Lung(15;0.13) 13 26 0 0 0.013537 0 0 RLBP1 6017 broad.mit.edu 37 15 89760465 89760465 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:89760465C>T ENST00000268125.5 - 5 671 c.232G>A c.(232-234)Gag>Aag p.E78K NM_000326.4 NP_000317.1 P12271 RLBP1_HUMAN retinaldehyde binding protein 1 78 response to stimulus|visual perception|vitamin A metabolic process cytoplasm|soluble fraction retinol binding|transporter activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1) 18 Lung NSC(78;0.0472)|all_lung(78;0.089) Vitamin A(DB00162) GCCAGCTCCTCCCCCGAGGCC 0.657000 10 49 0 0 0.010729 0 0 GNAI1 2770 broad.mit.edu 37 7 79818490 79818490 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:79818490T>C ENST00000351004.3 + 3 619 c.246T>C c.(244-246)atT>atC p.I82I GNAI1_ENST00000490206.1_3'UTR|GNAI1_ENST00000457358.2_Silent_p.I30I NM_002069.5 NP_002060.4 P63096 GNAI1_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 82 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody|nucleus G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 19 AGTCAATTATTGCTATCATTA 0.413000 10 27 0 0 0.010729 0 0 RBP3 5949 broad.mit.edu 37 10 48387840 48387840 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:48387840C>T ENST00000224600.4 - 1 3151 c.3038G>A c.(3037-3039)gGa>gAa p.G1013E NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 1013 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GGGCACAATTCCAGGAATGCG 0.602000 10 46 0 0 0.010729 0 0 MUC16 94025 broad.mit.edu 37 19 9090653 9090653 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9090653C>T ENST00000397910.4 - 1 1365 c.1162G>A c.(1162-1164)Gaa>Aaa p.E388K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 388 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 CCCAACCATTCTGAAGCCAAA 0.507000 15 28 0 0 0.003163 0 0 SCN11A 11280 broad.mit.edu 37 3 38961472 38961472 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:38961472C>T ENST00000450244.1 - 7 1111 c.913G>A c.(913-915)Gaa>Aaa p.E305K SCN11A_ENST00000302328.3_Missense_Mutation_p.E305K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E305K|SCN11A_ENST00000456224.3_Missense_Mutation_p.E305K Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 305 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GGTGAATTTTCTTTCTTTTCA 0.338000 18 37 0 0 0.010504 0 0 XIRP2 129446 broad.mit.edu 37 2 168108325 168108325 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:168108325G>A ENST00000409195.1 + 9 10512 c.10423G>A c.(10423-10425)Gaa>Aaa p.E3475K XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E3253K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E3475K NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 3300 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 TTCACCTAAAGAAGTAAGAAA 0.428000 9 26 0 0 0.004482 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558812 140558812 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140558812G>A ENST00000239444.2 + 1 1442 c.1197G>A c.(1195-1197)ggG>ggA p.G399G NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 399 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTTCTGTGGGGAACTTTTACA 0.463000 12 26 0 0 0.010729 0 0 CTSA 5476 broad.mit.edu 37 20 44523714 44523714 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:44523714C>T ENST00000372484.3 + 11 1366 c.1084C>T c.(1084-1086)Ccg>Tcg p.P362S CTSA_ENST00000191018.5_Missense_Mutation_p.P344S|CTSA_ENST00000354880.5_Missense_Mutation_p.P345S|CTSA_ENST00000372459.2_Missense_Mutation_p.P344S NM_000308.2|NM_001127695.1 NP_000299.2|NP_001121167.1 P10619 PPGB_HUMAN cathepsin A 344 intracellular protein transport|proteolysis endoplasmic reticulum|lysosome|nucleus enzyme activator activity|protein binding|serine-type carboxypeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) CCTCAACAACCCGTACGTGCG 0.607000 9 16 0 0 0.006214 0 0 FAT3 120114 broad.mit.edu 37 11 92085960 92085960 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:92085960G>A ENST00000298047.6 + 1 699 c.682G>A c.(682-684)Gat>Aat p.D228N FAT3_ENST00000541502.1_Missense_Mutation_p.D228N|FAT3_ENST00000409404.2_Missense_Mutation_p.D228N|FAT3_ENST00000525166.1_Missense_Mutation_p.D78N Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 228 Cadherin 2. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GAATAGGTATGATCTGGAAAT 0.388000 TCGA Ovarian(4;0.039) 109 335 0 0 0.014410 0 0 CHAMP1 283489 broad.mit.edu 37 13 115089630 115089630 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:115089630C>T ENST00000361283.1 + 3 622 c.313C>T c.(313-315)Cct>Tct p.P105S NM_001164144.1|NM_001164145.1|NM_032436.2 NP_001157616.1|NP_001157617.1|NP_115812.1 Q96JM3 ZN828_HUMAN chromosome alignment maintaining phosphoprotein 1 105 Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding AGAAACAGATCCTGTGAAAAG 0.398000 15 21 0 0 0.004007 0 0 GRM3 2913 broad.mit.edu 37 7 86468644 86468644 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:86468644C>T ENST00000361669.2 + 4 2913 c.1814C>T c.(1813-1815)cCc>cTc p.P605L GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.P197L|GRM3_ENST00000536043.1_Missense_Mutation_p.P477L NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 605 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) AACAACACACCCTTGGTCAAA 0.483000 20 55 0 0 0.007413 0 0 ENPP4 22875 broad.mit.edu 37 6 46108891 46108891 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:46108891G>A ENST00000321037.4 + 3 1159 c.929G>A c.(928-930)cGa>cAa p.R310Q NM_014936.4 NP_055751.1 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) 310 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 18 CATAATGATCGAATTCAGCCC 0.323000 15 28 0 0 0.004990 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2306175 2306175 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:2306175G>A ENST00000290974.2 - 8 2231 c.1892C>T c.(1891-1893)tCc>tTc p.S631F ZFYVE28_ENST00000515312.1_Missense_Mutation_p.S561F|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.S601F|RP11-478C1.7_ENST00000510632.1_RNA NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 631 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 GCACTTGTCGGAAGTGGGGGC 0.662000 27 29 0 0 0.005443 0 0 ADNP 23394 broad.mit.edu 37 20 49509502 49509502 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:49509502G>A ENST00000396029.3 - 5 2316 c.1749C>T c.(1747-1749)gcC>gcT p.A583A ADNP_ENST00000371602.4_Silent_p.A583A|ADNP_ENST00000349014.3_Silent_p.A583A|ADNP_ENST00000396032.3_Silent_p.A583A NM_015339.2 NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 583 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 GATTATTTTGGGCATGGTAAG 0.453000 37 83 0 0 0.004878 0 0 EMR3 84658 broad.mit.edu 37 19 14740983 14740983 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:14740983G>A ENST00000253673.5 - 14 1780 c.1680C>T c.(1678-1680)atC>atT p.I560I EMR3_ENST00000599900.1_Silent_p.I345I|EMR3_ENST00000344373.4_Silent_p.I508I|EMR3_ENST00000443157.2_Silent_p.I434I NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 560 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 TGCAGCCCAGGATGAAGAGCT 0.512000 21 39 0 0 0.010504 0 0 SNX30 401548 broad.mit.edu 37 9 115580005 115580005 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:115580005C>T ENST00000374232.3 + 3 533 c.369C>T c.(367-369)gaC>gaT p.D123D NM_001012994.1 NP_001013012.1 Q5VWJ9 SNX30_HUMAN sorting nexin family member 30 123 PX. cell communication|protein transport cytoplasm phosphatidylinositol binding large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 TGGAGTTTGACCTGCCAGAAT 0.433000 9 39 0 0 0.004482 0 0 MTMR8 55613 broad.mit.edu 37 X 63555965 63555965 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:63555965G>A ENST00000374852.3 - 10 1212 c.1145C>T c.(1144-1146)tCc>tTc p.S382F MTMR8_ENST00000478487.1_Intron|MTMR8_ENST00000453546.1_Intron NM_017677.3 NP_060147.2 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 382 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity p.0?(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 TTACCTTTGGGAAAACTTGTG 0.343000 32 18 0 0 0.004289 0 0 SLC1A2 6506 broad.mit.edu 37 11 35287113 35287113 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:35287113G>A ENST00000278379.3 - 10 1896 c.1614C>T c.(1612-1614)gtC>gtT p.V538V SLC1A2_ENST00000479543.1_5'UTR|SLC1A2_ENST00000395753.1_Silent_p.V529V|SLC1A2_ENST00000395750.1_Silent_p.V529V|SLC1A2_ENST00000606205.1_Silent_p.V538V NM_004171.3 NP_004162.2 P43004 EAA2_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 2 538 D-aspartate import|L-glutamate import|synaptic transmission integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1) 24 all_lung(20;0.211)|all_epithelial(35;0.234) all_hematologic(20;0.109) STAD - Stomach adenocarcinoma(6;0.00731) L-Glutamic Acid(DB00142) GTGCAGCATAGACACATTGAT 0.388000 39 87 0 0 0.007835 0 0 GP9 2815 broad.mit.edu 37 3 128780916 128780916 + Missense_Mutation SNP C C T rs139914505 by1000genomes TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:128780916C>T ENST00000307395.4 + 3 556 c.334C>T c.(334-336)Cgc>Tgc p.R112C NM_000174.3 NP_000165.1 P14770 GPIX_HUMAN glycoprotein IX (platelet) 112 LRRCT. blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane protein binding NS(1)|central_nervous_system(1)|lung(4) 6 Quinine(DB00468) GCTGCAGGTCCGCTGTGCCAG 0.706000 3 10 0 0 0.004672 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529180 5529180 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:5529180C>T ENST00000311659.4 - 2 1756 c.1609G>A c.(1609-1611)Gaa>Aaa p.E537K HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 537 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGAGGTGCTTCAGTAGCTAGG 0.577000 25 35 0 0 0.004656 0 0 VLDLR 7436 broad.mit.edu 37 9 2647568 2647568 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:2647568C>T ENST00000382100.2 + 12 2154 c.1798C>T c.(1798-1800)Cag>Tag p.Q600* VLDLR_ENST00000478776.1_3'UTR|VLDLR_ENST00000382099.2_Nonsense_Mutation_p.Q600* NM_003383.3 NP_003374.3 P98155 VLDLR_HUMAN very low density lipoprotein receptor 600 cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123) AGCGGATATCCAGTGGCCTAA 0.433000 4 29 0 0 0.000602 0 0 OR8H1 219469 broad.mit.edu 37 11 56058264 56058264 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:56058264G>A ENST00000313022.2 - 1 302 c.275C>T c.(274-276)tCc>tTc p.S92F NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) GCCCATGAAGGAAATATAGTT 0.398000 56 123 0 0 0.014410 0 0 NEB 4703 broad.mit.edu 37 2 152432249 152432249 + Missense_Mutation SNP T T G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:152432249T>G ENST00000397345.3 - 107 17175 c.16973A>C c.(16972-16974)gAa>gCa p.E5658A NEB_ENST00000172853.10_Missense_Mutation_p.E3957A|NEB_ENST00000603639.1_Missense_Mutation_p.E5658A|NEB_ENST00000427231.2_Missense_Mutation_p.E5658A|NEB_ENST00000604864.1_Missense_Mutation_p.E5658A|NEB_ENST00000409198.1_Missense_Mutation_p.E3957A NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 5673 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GAGATTAATTTCTGGAGTATC 0.358000 72 205 0 0 0.014410 0 0 HERC4 26091 broad.mit.edu 37 10 69726449 69726449 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:69726449G>A ENST00000395198.3 - 16 2164 c.1917C>T c.(1915-1917)gcC>gcT p.A639A HERC4_ENST00000412272.2_Silent_p.A639A|HERC4_ENST00000373700.4_Silent_p.A639A|HERC4_ENST00000277817.6_Silent_p.A529A|HERC4_ENST00000395187.2_3'UTR NM_022079.2 NP_071362.1 Q5GLZ8 HERC4_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 4 639 cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 27 CCATTCCATAGGCCTGCTGTT 0.289000 5 5 0 0 0.001984 0 0 PTAFR 5724 broad.mit.edu 37 1 28476731 28476731 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:28476731G>A ENST00000373857.3 - 2 1436 c.802C>T c.(802-804)Cac>Tac p.H268Y PTAFR_ENST00000539896.1_Missense_Mutation_p.H268Y|PTAFR_ENST00000305392.3_Missense_Mutation_p.H268Y NM_000952.4|NM_001164722.2|NM_001164723.2 NP_000943.1|NP_001158194.1|NP_001158195.1 P25105 PTAFR_HUMAN platelet-activating factor receptor 268 chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1) 15 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) ATGGCCTGGTGGAATTTGCTG 0.552000 18 34 0 0 0.006122 0 0 ZNF445 353274 broad.mit.edu 37 3 44488121 44488121 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:44488121G>A ENST00000425708.2 - 7 3383 c.3042C>T c.(3040-3042)acC>acT p.T1014T ZNF445_ENST00000396077.2_Silent_p.T1014T P59923 ZN445_HUMAN zinc finger protein 445 1014 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3) 31 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) ACCACCTGAAGGTCTTTCCAC 0.478000 22 53 0 0 0.014323 0 0 MXD3 83463 broad.mit.edu 37 5 176734770 176734770 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:176734770C>T ENST00000423571.2 - 5 581 c.517G>A c.(517-519)Gag>Aag p.E173K MXD3_ENST00000439742.2_Intron|MXD3_ENST00000513063.1_Intron|MXD3_ENST00000427908.2_Intron Q9BW11 MAD3_HUMAN MAX dimerization protein 3 174 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCTCAGCCTCGGGGCACTCA 0.692000 5 11 0 0 0.000602 0 0 PDE8B 8622 broad.mit.edu 37 5 76714114 76714114 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:76714114G>A ENST00000264917.5 + 18 2017 c.1972G>A c.(1972-1974)Gat>Aat p.D658N PDE8B_ENST00000505283.1_Missense_Mutation_p.D123N|PDE8B_ENST00000346042.3_Missense_Mutation_p.D561N|PDE8B_ENST00000342343.4_Missense_Mutation_p.D638N|PDE8B_ENST00000340978.3_Missense_Mutation_p.D611N|PDE8B_ENST00000333194.4_Missense_Mutation_p.D603N NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 658 Catalytic (By similarity). cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) CCATGACGTGGATCACCCGGG 0.562000 61 261 0 0 0.014410 0 0 SCN10A 6336 broad.mit.edu 37 3 38739252 38739252 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:38739252G>A ENST00000449082.2 - 27 5458 c.5459C>T c.(5458-5460)tCt>tTt p.S1820F NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1820 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGCCTTCAGAGAATCCAACTC 0.443000 36 36 0 0 0.004289 0 0 SLC45A1 50651 broad.mit.edu 37 1 8395530 8395530 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:8395530G>A ENST00000471889.1 + 6 1862 c.1477G>A c.(1477-1479)Gag>Aag p.E493K SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Missense_Mutation_p.E527K|SLC45A1_ENST00000289877.8_Missense_Mutation_p.E493K Q9Y2W3 S45A1_HUMAN solute carrier family 45, member 1 493 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) CGTGAAGTATGAGAGCGAGCT 0.647000 31 74 0 0 0.003271 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55381350 55381350 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:55381350G>A ENST00000398661.2 - 5 570 c.439C>T c.(439-441)Cgc>Tgc p.R147C HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000428842.1_Intron|HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.R117C NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 147 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) ACAGGATAGCGAACTCCTGGA 0.343000 19 58 0 0 0.012319 0 0 CNBD1 168975 broad.mit.edu 37 8 87917373 87917373 + Silent SNP C C T rs146302968 by1000genomes TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:87917373C>T ENST00000518476.1 + 3 274 c.223C>T c.(223-225)Ctg>Ttg p.L75L NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 75 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 TAAAGTATTCCTGCACCAAAA 0.368000 6 12 0 0 0.003080 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102516140 102516140 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:102516140C>T ENST00000360184.4 + 76 13769 c.13605C>T c.(13603-13605)tcC>tcT p.S4535S RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 4535 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 ACAGCTGGTCCCTGGAGGAGC 0.607000 26 16 0 0 0.004656 0 0 LIMK1 3984 broad.mit.edu 37 7 73513401 73513401 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:73513401C>T ENST00000418310.1 + 5 633 c.531C>T c.(529-531)atC>atT p.I177I LIMK1_ENST00000491052.1_3'UTR|LIMK1_ENST00000538333.3_Silent_p.I113I|LIMK1_ENST00000336180.2_Silent_p.I147I P53667 LIMK1_HUMAN LIM domain kinase 1 147 PDZ. actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 Lung NSC(55;0.137) CCCCCGTCATCGAGCAGATCC 0.597000 31 109 0 0 0.010818 0 0 LAMA1 284217 broad.mit.edu 37 18 6965358 6965358 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:6965358G>A ENST00000389658.3 - 50 7217 c.7124C>T c.(7123-7125)aCc>aTc p.T2375I NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2375 Laminin G-like 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGTCAAAAGGGTAATGGGTCC 0.458000 16 59 0 0 0.004990 0 0 MRAP2 112609 broad.mit.edu 37 6 84799172 84799172 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:84799172C>T ENST00000257776.4 + 4 725 c.590C>T c.(589-591)tCc>tTc p.S197F NM_138409.2 NP_612418.2 Q96G30 MRAP2_HUMAN melanocortin 2 receptor accessory protein 2 197 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 19 AAGCCACTTTCCCAGACCTCA 0.423000 19 44 0 0 0.010504 0 0 CDH24 64403 broad.mit.edu 37 14 23523522 23523522 + Missense_Mutation SNP G G A rs61976366 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:23523522G>A ENST00000397359.3 - 6 1059 c.800C>T c.(799-801)tCc>tTc p.S267F CDH24_ENST00000554034.1_Missense_Mutation_p.S267F|CDH24_ENST00000267383.5_Missense_Mutation_p.S267F|CDH24_ENST00000487137.2_Missense_Mutation_p.S267F NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 267 Cadherin 3. adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) CTCCACCACGGAGAACTGGTA 0.622000 28 61 0 0 0.009535 0 0 KCNK10 54207 broad.mit.edu 37 14 88729616 88729616 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:88729616G>A ENST00000340700.5 - 2 768 c.317C>T c.(316-318)gCc>gTc p.A106V KCNK10_ENST00000312350.5_Missense_Mutation_p.A111V|KCNK10_ENST00000319231.5_Missense_Mutation_p.A111V NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 106 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 CTTCTCCAAGGCGATGGTATT 0.562000 7 17 0 0 0.001855 0 0 SAGE1 55511 broad.mit.edu 37 X 134993485 134993485 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:134993485G>A ENST00000535938.1 + 17 2307 c.2140G>A c.(2140-2142)Gat>Aat p.D714N SAGE1_ENST00000324447.3_Missense_Mutation_p.D714N|SAGE1_ENST00000370709.3_Missense_Mutation_p.D714N|SAGE1_ENST00000537770.1_Missense_Mutation_p.D338N NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 714 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) AAGTACCAGGGATCTGTGTAT 0.433000 50 16 0 0 0.014410 0 0 SPATA31A3 727830 broad.mit.edu 37 9 40704191 40704191 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:40704191G>A ENST00000356699.5 + 4 1877 c.1848G>A c.(1846-1848)agG>agA p.R616R NM_001083124.1 NP_001076593.1 SPATA31 subfamily A, member 3 ACCTGGGAAGGATCCAAGAGT 0.532000 23 86 0 0 0.003330 0 0 MAP1S 55201 broad.mit.edu 37 19 17838325 17838325 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:17838325C>T ENST00000324096.4 + 5 2283 c.2132C>T c.(2131-2133)cCc>cTc p.P711L MAP1S_ENST00000544059.2_Missense_Mutation_p.P685L|MAP1S_ENST00000597681.1_3'UTR NM_018174.4 NP_060644.4 Q66K74 MAP1S_HUMAN microtubule-associated protein 1S 711 Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 25 CCATCCGCCCCCACCAGTGAG 0.701000 7 17 0 0 0.001984 0 0 FBXO40 51725 broad.mit.edu 37 3 121341642 121341642 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:121341642C>T ENST00000338040.4 + 3 1780 c.1366C>T c.(1366-1368)Cac>Tac p.H456Y NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 456 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) AGGGGGACTCCACGTGGAGCT 0.522000 11 27 0 0 0.008291 0 0 AFMID 125061 broad.mit.edu 37 17 76201792 76201792 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:76201792C>T ENST00000409257.5 + 9 807 c.753C>T c.(751-753)ttC>ttT p.F251F AFMID_ENST00000591952.1_Intron|AFMID_ENST00000589664.1_Intron|AFMID_ENST00000588800.1_Intron|AFMID_ENST00000327898.5_Silent_p.F251F NM_001010982.4|NM_001145526.2 NP_001010982.2|NP_001138998.1 Q63HM1 AFMID_HUMAN arylformamidase 251 cytosol|nucleus arylformamidase activity autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1) 19 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134) CCCCCGAATTCCACCGACAGT 0.592000 21 11 0 0 0.010504 0 0 CNTN2 6900 broad.mit.edu 37 1 205034309 205034309 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:205034309G>A ENST00000331830.4 + 13 1898 c.1614G>A c.(1612-1614)atG>atA p.M538I NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 538 Ig-like C2-type 6. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) ACCCCACCATGGACCTCACCT 0.567000 40 77 0 0 0.006999 0 0 SACS 26278 broad.mit.edu 37 13 23908129 23908129 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:23908129G>A ENST00000382298.3 - 10 10474 c.9886C>T c.(9886-9888)Cct>Tct p.P3296S SACS_ENST00000402364.1_Missense_Mutation_p.P2546S|SACS_ENST00000382292.3_Missense_Mutation_p.P3296S NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3296 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TCTCCTTCAGGAACCACAAGC 0.413000 21 25 0 0 0.014323 0 0 FBXW7 55294 broad.mit.edu 37 4 153245389 153245389 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:153245389G>A ENST00000281708.4 - 11 3031 c.1802C>T c.(1801-1803)tCt>tTt p.S601F FBXW7_ENST00000603841.1_Missense_Mutation_p.S601F|FBXW7_ENST00000393956.3_Missense_Mutation_p.S425F|FBXW7_ENST00000263981.5_Missense_Mutation_p.S521F|FBXW7_ENST00000296555.5_Missense_Mutation_p.S483F|FBXW7_ENST00000603548.1_Missense_Mutation_p.S601F NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 601 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.S601F(2)|p.S362F(1)|p.S521F(1)|p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TTTAACTGTAGAATCTGCATT 0.383000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 12 19 0 0 0.003163 0 0 ADH1C 126 broad.mit.edu 37 4 100261858 100261858 + RNA SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:100261858G>T ENST00000515683.1 - 0 1189 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) CAACATAACAGGGAAGCCATC 0.433000 42 39 7.66079e-34 8.42239e-34 0.010771 1 0 PLA2R1 22925 broad.mit.edu 37 2 160824073 160824073 + Nonsense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:160824073C>A ENST00000283243.7 - 20 3087 c.2881G>T c.(2881-2883)Gga>Tga p.G961* PLA2R1_ENST00000392771.1_Nonsense_Mutation_p.G961* NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 961 endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 TATAGCCATCCTTTGGGACAC 0.343000 22 52 1.85244e-09 2.02292e-09 0.003330 1 0 HFE2 148738 broad.mit.edu 37 1 145416699 145416699 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:145416699G>A ENST00000336751.5 + 4 1282 c.1044G>A c.(1042-1044)aaG>aaA p.K348K HFE2_ENST00000475797.1_Silent_p.K122K|HFE2_ENST00000357836.5_Silent_p.K235K|HFE2_ENST00000497365.1_Silent_p.K122K NM_213653.3 NP_998818.1 Q6ZVN8 RGMC_HUMAN hemochromatosis type 2 (juvenile) 348 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGCTGTGCAAGGAAGGGCTTC 0.527000 20 37 0 0 0.008871 0 0 TLR4 7099 broad.mit.edu 37 9 120475867 120475867 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:120475867C>T ENST00000355622.6 + 3 1562 c.1461C>T c.(1459-1461)ttC>ttT p.F487F TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.F447F NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 487 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 AGGAAAACTTCCTTCCAGATA 0.448000 19 28 0 0 0.006122 0 0 IL1RL1 9173 broad.mit.edu 37 2 102957179 102957179 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:102957179C>T ENST00000311734.2 + 5 840 c.501C>T c.(499-501)gtC>gtT p.V167V IL1RL1_ENST00000393393.3_Silent_p.V167V|IL1RL1_ENST00000233954.1_Silent_p.V167V|IL1RL1_ENST00000409584.1_Silent_p.V167V|IL1RL1_ENST00000404917.2_Silent_p.V50V Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 167 Ig-like C2-type 2. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 CATTTTTGGTCATTGATAATG 0.393000 19 60 0 0 0.008871 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140307560 140307560 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140307560C>T ENST00000253807.2 + 1 1083 c.1083C>T c.(1081-1083)ctC>ctT p.L361L PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.L361L|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGATTGCTCTCTTTAGTGTAA 0.512000 13 30 0 0 0.001855 0 0 ASB15 142685 broad.mit.edu 37 7 123269336 123269336 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:123269336G>A ENST00000451558.1 + 12 1809 c.1288G>A c.(1288-1290)Gta>Ata p.V430I ASB15_ENST00000434204.1_Missense_Mutation_p.V430I|ASB15_ENST00000275699.3_Missense_Mutation_p.V430I|ASB15_ENST00000540573.1_Missense_Mutation_p.V430I|ASB15_ENST00000451215.1_Missense_Mutation_p.V430I Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 430 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 AAACGACGAGGTAATGCTGAG 0.423000 46 67 0 0 0.014410 0 0 HS6ST2 90161 broad.mit.edu 37 X 131762506 131762506 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:131762506C>T ENST00000370836.2 - 4 1978 c.1563G>A c.(1561-1563)ctG>ctA p.L521L HS6ST2_ENST00000406696.3_Silent_p.L247L|HS6ST2_ENST00000521489.1_Silent_p.L561L|HS6ST2_ENST00000370833.2_Silent_p.L415L|HS6ST2_ENST00000370837.1_Silent_p.L375L NM_147175.3 NP_671704.3 Q96MM7 H6ST2_HUMAN heparan sulfate 6-O-sulfotransferase 2 521 integral to membrane sulfotransferase activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2) 9 Acute lymphoblastic leukemia(192;0.000127) GCCTTCCCTTCAGAAATTTGC 0.498000 35 17 0 0 0.013726 0 0 IGSF10 285313 broad.mit.edu 37 3 151164712 151164712 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:151164712C>T ENST00000282466.3 - 4 3056 c.3057G>A c.(3055-3057)agG>agA p.R1019R NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1019 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TAATCCGCCCCCTTCCGCCAA 0.478000 7 55 0 0 0.001984 0 0 COL24A1 255631 broad.mit.edu 37 1 86210408 86210408 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:86210408C>T ENST00000370571.2 - 57 4979 c.4613G>A c.(4612-4614)cGa>cAa p.R1538Q COL24A1_ENST00000436319.1_Missense_Mutation_p.R1517Q NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 1538 Fibrillar collagen NC1. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TGGGTTATCTCGTGTGCCAAG 0.368000 27 49 0 0 0.007291 0 0 OR4C6 219432 broad.mit.edu 37 11 55433219 55433219 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:55433219C>T ENST00000314259.3 + 1 606 c.577C>T c.(577-579)Ctg>Ttg p.L193L NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 193 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 CACCCACATCCTGGGCCTCTT 0.438000 21 52 0 0 0.010504 0 0 PIGR 5284 broad.mit.edu 37 1 207108075 207108075 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:207108075C>T ENST00000356495.4 - 6 1578 c.1395G>A c.(1393-1395)aaG>aaA p.K465K NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 465 Ig-like V-type 5. extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TCCCTGGTACCTTGAGGTTTG 0.507000 8 17 0 0 0.006214 0 0 CHRM3 1131 broad.mit.edu 37 1 240072190 240072190 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:240072190G>A ENST00000255380.4 + 5 2218 c.1439G>A c.(1438-1440)aGg>aAg p.R480K NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 480 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) AAGCGGAAAAGGATGTCCCTG 0.527000 16 50 0 0 0.004990 0 0 CLDN11 5010 broad.mit.edu 37 3 170140970 170140970 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:170140970C>T ENST00000064724.3 + 2 448 c.246C>T c.(244-246)cgC>cgT p.R82R CLDN11_ENST00000489485.1_3'UTR|CLDN11_ENST00000486975.1_Silent_p.R82R|CLDN11_ENST00000451576.1_Silent_p.R82R NM_005602.5 NP_005593.2 O75508 CLD11_HUMAN claudin 11 82 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2) 12 all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) AGGCCTGCCGCGCCCTGATGA 0.597000 30 113 0 0 0.004289 0 0 GLRA1 2741 broad.mit.edu 37 5 151202345 151202345 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:151202345C>T ENST00000274576.4 - 9 1531 c.1239G>A c.(1237-1239)aaG>aaA p.K413K GLRA1_ENST00000545569.1_Silent_p.K330K|GLRA1_ENST00000455880.2_Silent_p.K421K NM_000171.3|NM_001146040.1 NP_000162.2|NP_001139512.1 P23415 GLRA1_HUMAN glycine receptor, alpha 1 421 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TGTCGATCTTCTTGGCCCTCT 0.507000 16 58 0 0 0.004990 0 0 TENM4 26011 broad.mit.edu 37 11 78467953 78467953 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:78467953G>A ENST00000278550.7 - 19 3115 c.2653C>T c.(2653-2655)Cct>Tct p.P885S NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 TGTGACACAGGGACCTGTGTC 0.587000 13 23 0 0 0.002450 0 0 EXOC4 60412 broad.mit.edu 37 7 132959761 132959761 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:132959761C>T ENST00000253861.4 + 2 140 c.111C>T c.(109-111)gtC>gtT p.V37V EXOC4_ENST00000539845.1_5'UTR|EXOC4_ENST00000393161.2_Silent_p.V37V NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 37 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) GTGACGATGTCGAAGACAGGG 0.418000 20 30 0 0 0.002780 0 0 POM121L12 285877 broad.mit.edu 37 7 53103787 53103787 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:53103787C>T ENST00000408890.4 + 1 439 c.423C>T c.(421-423)atC>atT p.I141I NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 141 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCATCGGGATCGCGCCCCCTG 0.716000 10 30 0 0 0.008291 0 0 USP17L2 377630 broad.mit.edu 37 8 11995287 11995287 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:11995287C>T ENST00000333796.3 - 1 1299 c.983G>A c.(982-984)tGg>tAg p.W328* FAM66D_ENST00000434078.2_RNA NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2 NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2 Q6R6M4 U17L2_HUMAN ubiquitin specific peptidase 17-like family member 2 328 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 GTGACAACTCCACCCAGCGTG 0.488000 6 29 0 0 0.001984 0 0 SAMD4B 55095 broad.mit.edu 37 19 39866354 39866354 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:39866354C>T ENST00000314471.6 + 7 1767 c.732C>T c.(730-732)ccC>ccT p.P244P SAMD4B_ENST00000596368.1_Silent_p.P244P|SAMD4B_ENST00000598913.1_Silent_p.P244P NM_018028.2 NP_060498.2 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 244 protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CTACAAGCCCCCAGGTCCCTG 0.612000 57 133 0 0 0.014410 0 0 HTR2A 3356 broad.mit.edu 37 13 47409694 47409694 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:47409694C>T ENST00000378688.4 - 3 825 c.694G>A c.(694-696)Gat>Aat p.D232N HTR2A_ENST00000543956.1_Missense_Mutation_p.D148N|HTR2A_ENST00000542664.1_Missense_Mutation_p.D232N P28223 5HT2A_HUMAN 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 232 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity p.D232Y(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) ACAAAGTTATCATCGGCGAGT 0.433000 13 22 0 0 0.003163 0 0 FMNL1 752 broad.mit.edu 37 17 43321365 43321365 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:43321365C>T ENST00000331495.3 + 18 2757 c.2421C>T c.(2419-2421)ttC>ttT p.F807F FMNL1_ENST00000587489.1_Silent_p.F385F|FMNL1_ENST00000328118.3_Silent_p.F807F NM_005892.3 NP_005883.2 O95466 FMNL_HUMAN formin-like 1 807 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 TGGGCAACTTCCCGGACACAG 0.667000 46 25 0 0 0.014410 0 0 TRAV8-7 28679 broad.mit.edu 37 14 22600917 22600917 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:22600917G>A ENST00000390456.3 + 0 262 TAAGAAGAGCGAAACCTCCTT 0.512000 8 45 0 0 0.004482 0 0 TRBV4-2 28616 broad.mit.edu 37 7 142045755 142045755 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:142045755C>T ENST00000390392.3 + 0 394 TCACTTATTCCTTCACCTACA 0.502000 41 168 0 0 0.014410 0 0 RGPD3 653489 broad.mit.edu 37 2 107049619 107049619 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:107049619T>C ENST00000409886.3 - 16 2415 c.2328A>G c.(2326-2328)atA>atG p.I776M RGPD3_ENST00000304514.7_Missense_Mutation_p.I776M NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 776 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TAGAATGTTTTATTTCTGAAT 0.348000 32 114 0 0 0.014410 0 0 ERCC6L 54821 broad.mit.edu 37 X 71426010 71426010 + Silent SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:71426010A>T ENST00000373657.1 - 3 2840 c.2238T>A c.(2236-2238)ctT>ctA p.L746L PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Silent_p.L869L Q2NKX8 ERC6L_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 869 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) TTGATTTGCTAAGTACATAAT 0.373000 6 15 0 0 0.001168 0 0 STRN3 29966 broad.mit.edu 37 14 31381223 31381223 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:31381223G>A ENST00000355683.5 - 9 1503 c.1288C>T c.(1288-1290)Cct>Tct p.P430S STRN3_ENST00000357479.5_Missense_Mutation_p.P514S NM_014574.3 NP_055389.3 Q13033 STRN3_HUMAN striatin, calmodulin binding protein 3 460 negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) TTTTTGGCAGGAACTGTTTTT 0.383000 15 29 0 0 0.004007 0 0 SETD1A 9739 broad.mit.edu 37 16 30982726 30982726 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:30982726C>T ENST00000262519.8 + 13 3730 c.3044C>T c.(3043-3045)tCc>tTc p.S1015F NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1015 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 GATTCGTCTTCCAAATGTTCT 0.567000 28 97 0 0 0.012213 0 0 SIRPG 55423 broad.mit.edu 37 20 1629810 1629810 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:1629810G>A ENST00000381580.1 - 2 398 c.219C>T c.(217-219)atC>atT p.I73I SIRPG_ENST00000344103.4_Silent_p.I106I|SIRPG_ENST00000216927.4_Silent_p.I106I|SIRPG_ENST00000303415.3_Silent_p.I106I|SIRPG_ENST00000381583.2_Silent_p.I106I Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 106 Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 TGATGCTACTGATGCGGATGG 0.478000 12 103 0 0 0.001855 0 0 SNCAIP 9627 broad.mit.edu 37 5 121780306 121780306 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:121780306G>A ENST00000261367.7 + 10 3040 c.1612G>A c.(1612-1614)Gaa>Aaa p.E538K SNCAIP_ENST00000542191.1_Missense_Mutation_p.E49K|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E431K|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E538K|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.E125K|SNCAIP_ENST00000261368.8_Missense_Mutation_p.E491K|SNCAIP_ENST00000414317.2_Missense_Mutation_p.E93K Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 491 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CCACGCTGGGGAAAAGCCCTC 0.537000 11 37 0 0 0.008291 0 0 FAM47A 158724 broad.mit.edu 37 X 34149069 34149069 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:34149069C>T ENST00000346193.3 - 1 1378 c.1327G>A c.(1327-1329)Gat>Aat p.D443N NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 443 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 TCACAACGATCCCATACGTCC 0.557000 19 8 0 0 0.008871 0 0 SLC38A1 81539 broad.mit.edu 37 12 46591502 46591502 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:46591502C>T ENST00000398637.5 - 16 2057 c.e16+1 SLC38A1_ENST00000549049.1_Splice_Site|SLC38A1_ENST00000546893.1_Splice_Site|SLC38A1_ENST00000439706.1_Splice_Site|SLC38A1_ENST00000552197.1_Splice_Site NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3 NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3 Q9H2H9 S38A1_HUMAN solute carrier family 38, member 1 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) AAGAGACATACCCAAATTCTT 0.343000 36 24 0 0 0.008740 0 0 SQRDL 58472 broad.mit.edu 37 15 45968449 45968449 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:45968449G>A ENST00000260324.7 + 6 1191 c.805G>A c.(805-807)Gat>Aat p.D269N RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.D269N|SQRDL_ENST00000568606.1_Missense_Mutation_p.D269N NM_021199.2 NP_067022.1 Q9Y6N5 SQRD_HUMAN sulfide quinone reductase-like (yeast) 269 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 11 Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417) all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188) AGTCCGAGCCGATAAACAAGA 0.478000 30 63 0 0 0.003271 0 0 CSMD3 114788 broad.mit.edu 37 8 113392632 113392632 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:113392632A>T ENST00000297405.5 - 38 6329 c.6085T>A c.(6085-6087)Ttt>Att p.F2029I CSMD3_ENST00000455883.2_Missense_Mutation_p.F1925I|CSMD3_ENST00000352409.3_Missense_Mutation_p.F1959I|CSMD3_ENST00000343508.3_Missense_Mutation_p.F1989I NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2029 CUB 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 TCTGATTGAAAATTTAGATAC 0.318000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 30 64 0 0 0.013726 0 0 PDZD2 23037 broad.mit.edu 37 5 32087274 32087274 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:32087274G>A ENST00000438447.1 + 20 4108 c.3720G>A c.(3718-3720)ggG>ggA p.G1240G PDZD2_ENST00000282493.3_Silent_p.G1240G O15018 PDZD2_HUMAN PDZ domain containing 2 1240 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CTTCCCCAGGGAAGAAGGGGG 0.567000 15 48 0 0 0.003163 0 0 CACNA1B 774 broad.mit.edu 37 9 141010045 141010045 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:141010045G>A ENST00000277549.5 + 42 5842 c.3273G>A c.(3271-3273)ctG>ctA p.L1091L CACNA1B_ENST00000371372.1_Silent_p.L1897L|CACNA1B_ENST00000371357.1_Silent_p.L1896L|CACNA1B_ENST00000277551.2_Silent_p.L1897L|CACNA1B_ENST00000371363.1_Silent_p.L1895L|CACNA1B_ENST00000371355.4_Silent_p.L1898L Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1897 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) AGGCCACCCTGGAGCAGACAC 0.592000 10 115 0 0 0.013537 0 0 PCLO 27445 broad.mit.edu 37 7 82578833 82578833 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:82578833C>T ENST00000423517.2 - 6 11408 c.11071G>A c.(11071-11073)Gaa>Aaa p.E3691K PCLO_ENST00000437081.1_Missense_Mutation_p.E411K|PCLO_ENST00000333891.8_Missense_Mutation_p.E3691K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3622 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.E3691K(1)|p.E3622K(1) 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 CTGGAACTTTCGTCTGCTGTT 0.463000 55 151 0 0 0.014410 0 0 OR2T8 343172 broad.mit.edu 37 1 248084830 248084830 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:248084830G>A ENST00000319968.4 + 1 511 c.511G>A c.(511-513)Gag>Aag p.E171K NM_001005522.1 NP_001005522.1 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, member 8 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CGGTGCACACGAGATCGATCA 0.557000 4 27 0 0 0.004482 0 0 CXorf22 170063 broad.mit.edu 37 X 35944275 35944275 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:35944275C>T ENST00000297866.5 + 2 457 c.391C>T c.(391-393)Cct>Tct p.P131S NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 131 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 AACAGAAATTCCTCTAATTGG 0.318000 6 3 0 0 0.001984 0 0 EPHB1 2047 broad.mit.edu 37 3 134920409 134920409 + Missense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:134920409C>A ENST00000398015.3 + 12 2594 c.2224C>A c.(2224-2226)Cat>Aat p.H742N EPHB1_ENST00000493838.1_Missense_Mutation_p.H303N NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 742 Protein kinase. 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 GAATTATGTGCATCGGGACCT 0.537000 20 136 3.62473e-10 3.96192e-10 0.012319 1 0 VNN2 8875 broad.mit.edu 37 6 133078615 133078615 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:133078615G>A ENST00000326499.6 - 2 408 c.284C>T c.(283-285)cCt>cTt p.P95L VNN2_ENST00000525270.1_Missense_Mutation_p.P42L|VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525289.1_Missense_Mutation_p.P95L NM_004665.2 NP_004656.2 O95498 VNN2_HUMAN vanin 2 95 CN hydrolase. cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) CTCCAGATAAGGGAAAACAGT 0.403000 21 28 0 0 0.008871 0 0 FAM171A1 221061 broad.mit.edu 37 10 15255590 15255590 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:15255590G>A ENST00000378116.4 - 8 2003 c.1997C>T c.(1996-1998)tCt>tTt p.S666F NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 666 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 GATGGAGAGAGACTCCGACAT 0.622000 8 28 0 0 0.003080 0 0 SULF2 55959 broad.mit.edu 37 20 46365605 46365605 + Missense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:46365605G>T ENST00000359930.4 - 3 1108 c.257C>A c.(256-258)cCc>cAc p.P86H SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000467815.1_Missense_Mutation_p.P86H|SULF2_ENST00000361612.4_Missense_Mutation_p.P86H|SULF2_ENST00000484875.1_Missense_Mutation_p.P86H NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 86 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 GCAGCACATGGGTGTGGTCAC 0.587000 5 41 0.000602214 0.00065137 0.000602 1 0 ACAP2 23527 broad.mit.edu 37 3 195053810 195053810 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:195053810C>T ENST00000326793.6 - 8 846 c.616G>A c.(616-618)Gga>Aga p.G206R NM_012287.5 NP_036419.3 Q15057 ACAP2_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 206 BAR. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 27 AGATCATATCCTTGATGAAAG 0.333000 13 56 0 0 0.004007 0 0 FCER1A 2205 broad.mit.edu 37 1 159272208 159272208 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:159272208C>T ENST00000368115.1 + 2 153 c.55_splice c.e2+1 p.F18_splice FCER1A_ENST00000368114.1_Splice_Site_p.F18_splice NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 18 integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) TACTGTTCTTCGGTAAGTAGA 0.502000 39 88 0 0 0.007835 0 0 FCN2 2220 broad.mit.edu 37 9 137772724 137772724 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:137772724C>T ENST00000350339.2 + 1 71 c.57C>T c.(55-57)ttC>ttT p.F19F FCN2_ENST00000291744.6_Silent_p.F19F NM_015837.2 NP_056652.1 Q15485 FCN2_HUMAN ficolin (collagen/fibrinogen domain containing lectin) 2 19 complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 20 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) TGCTCTCTTTCCTGGGCATGG 0.612000 11 43 0 0 0.010729 0 0 PLAG1 5324 broad.mit.edu 37 8 57079555 57079555 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:57079555G>A ENST00000316981.3 - 5 1229 c.750C>T c.(748-750)ttC>ttT p.F250F PLAG1_ENST00000423799.2_Silent_p.F168F|PLAG1_ENST00000429357.2_Silent_p.F250F NM_001114634.1|NM_002655.2 NP_001108106.1|NP_002646.2 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 250 Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) ATGGGTCAAGGAAATCCACTG 0.443000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 45 105 0 0 0.014410 0 0 DNAH8 1769 broad.mit.edu 37 6 38750810 38750810 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:38750810G>A ENST00000359357.3 + 15 1893 c.1639G>A c.(1639-1641)Ggt>Agt p.G547S DNAH8_ENST00000441566.1_Missense_Mutation_p.G547S|DNAH8_ENST00000449981.2_Missense_Mutation_p.G764S 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 AAGTCCGGACGGTAAAGCTGT 0.373000 15 46 0 0 0.002450 0 0 MB 4151 broad.mit.edu 37 22 36013288 36013288 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:36013288C>T ENST00000397326.2 - 1 215 c.17G>A c.(16-18)gGg>gAg p.G6E MB_ENST00000406324.1_Missense_Mutation_p.G6E|MB_ENST00000397328.1_Missense_Mutation_p.G6E|MB_ENST00000359787.1_Missense_Mutation_p.G6E NM_005368.2 NP_005359.1 P02144 MYG_HUMAN myoglobin 6 heme binding|oxygen transporter activity lung(1) 1 CTGCCATTCCCCGTCGCTGAG 0.577000 18 23 0 0 0.006122 0 0 JMJD1C 221037 broad.mit.edu 37 10 64968329 64968329 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:64968329G>A ENST00000399262.2 - 10 3318 c.3100C>T c.(3100-3102)Ccc>Tcc p.P1034S JMJD1C_ENST00000402544.1_Missense_Mutation_p.P815S|JMJD1C_ENST00000399251.1_Missense_Mutation_p.P815S|JMJD1C_ENST00000542921.1_Missense_Mutation_p.P852S NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1034 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) GTTGTAAAGGGAGCAACATCA 0.408000 23 78 0 0 0.002780 0 0 HCFC1 3054 broad.mit.edu 37 X 153222475 153222475 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:153222475G>A ENST00000310441.7 - 14 3356 c.2390C>T c.(2389-2391)aCc>aTc p.T797I HCFC1_ENST00000369984.4_Missense_Mutation_p.T797I|HCFC1_ENST00000354233.3_Missense_Mutation_p.T728I NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 797 Interaction with ZBTB17. 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) GGTGATGATGGTGATGGGGGA 0.602000 58 30 0 0 0.014410 0 0 SIGLECL1 284369 broad.mit.edu 37 19 51768691 51768691 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:51768691G>A ENST00000316401.7 + 3 473 c.92G>A c.(91-93)gGg>gAg p.G31E SIGLECL1_ENST00000597824.1_Intron|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_Intron NM_173635.1 NP_775906.1 SIGLEC family like 1 TCCTTCCATGGGATTCCCACA 0.587000 28 39 0 0 0.008361 0 0 MUC16 94025 broad.mit.edu 37 19 9072251 9072251 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9072251G>A ENST00000397910.4 - 3 15398 c.15195C>T c.(15193-15195)tcC>tcT p.S5065S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5067 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 TCATAGGAGAGGAGAGCTTAT 0.478000 34 73 0 0 0.003755 0 0 C2CD3 26005 broad.mit.edu 37 11 73748573 73748573 + Missense_Mutation SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:73748573A>C ENST00000334126.7 - 30 6057 c.5831T>G c.(5830-5832)aTc>aGc p.I1944S C2CD3_ENST00000313663.7_Missense_Mutation_p.I1944S Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1944 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) TTTCTCCAGGATACACTGGCT 0.522000 58 101 0 0 0.014410 0 0 FAM71B 153745 broad.mit.edu 37 5 156589953 156589953 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:156589953C>T ENST00000302938.4 - 2 1418 c.1323G>A c.(1321-1323)agG>agA p.R441R NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 441 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GAGAACTTTTCCTACTGGGAT 0.502000 82 274 0 0 0.014410 0 0 SLC26A3 1811 broad.mit.edu 37 7 107431616 107431616 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:107431616G>A ENST00000340010.5 - 5 631 c.447C>T c.(445-447)gtC>gtT p.V149V SLC26A3_ENST00000422236.2_Silent_p.V114V NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 149 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 TGCGATCTGGGACTGCTTTTG 0.488000 34 49 0 0 0.003271 0 0 SNRK 54861 broad.mit.edu 37 3 43388867 43388867 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:43388867C>T ENST00000296088.7 + 7 1420 c.1116C>T c.(1114-1116)gaC>gaT p.D372D SNRK_ENST00000437827.1_Silent_p.D166D|RP11-188P20.3_ENST00000607513.1_RNA|SNRK_ENST00000429705.2_Silent_p.D372D|SNRK_ENST00000454177.1_Silent_p.D372D NM_017719.4 NP_060189.3 Q9NRH2 SNRK_HUMAN SNF related kinase 372 myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) TACCCCAGGACCTTGAGGATG 0.498000 31 130 0 0 0.010818 0 0 KCND2 3751 broad.mit.edu 37 7 119915245 119915245 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:119915245T>C ENST00000331113.4 + 1 1524 c.559T>C c.(559-561)Ttc>Ctc p.F187L NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 187 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) GGCCCTGGTGTTCTACTATGT 0.582000 10 29 0 0 0.006214 0 0 RGS6 9628 broad.mit.edu 37 14 72985178 72985178 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:72985178C>T ENST00000553530.1 + 15 1418 c.1211C>T c.(1210-1212)tCt>tTt p.S404F RGS6_ENST00000555571.1_Missense_Mutation_p.S404F|RGS6_ENST00000343854.6_Missense_Mutation_p.S367F|RGS6_ENST00000434263.2_Missense_Mutation_p.S335F|RGS6_ENST00000553525.1_Missense_Mutation_p.S404F|RGS6_ENST00000554782.1_Missense_Mutation_p.S265F|RGS6_ENST00000404301.2_Missense_Mutation_p.S404F|RGS6_ENST00000406236.4_Missense_Mutation_p.S404F|RGS6_ENST00000556437.1_Missense_Mutation_p.S404F|RGS6_ENST00000355512.6_Missense_Mutation_p.S404F|RGS6_ENST00000402788.2_Missense_Mutation_p.S404F|RGS6_ENST00000407322.4_Missense_Mutation_p.S404F NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5 NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3 P49758 RGS6_HUMAN regulator of G-protein signaling 6 404 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) AACCTGGATTCTCACAGCTAT 0.453000 22 21 0 0 0.010504 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90502188 90502188 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:90502188G>A ENST00000325643.5 + 4 2852 c.2786G>A c.(2785-2787)gGa>gAa p.G929E NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 GAGCAGGAGGGAGTCCAGAGG 0.622000 15 28 0 0 0.003163 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20368624 20368624 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:20368624C>T ENST00000593655.1 - 0 199 AACACATCTTCCCAGCTTTGG 0.458000 13 30 0 0 0.004007 0 0 NUF2 83540 broad.mit.edu 37 1 163295907 163295907 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:163295907C>T ENST00000271452.3 + 2 345 c.66C>T c.(64-66)atC>atT p.I22I NUF2_ENST00000367900.3_Silent_p.I22I|NUF2_ENST00000524800.1_Silent_p.I22I|NUF2_ENST00000490881.1_3'UTR NM_145697.2 NP_663735.2 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 22 Interaction with the N-terminus of NDC80. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 all_hematologic(923;0.101) GCAATAAGATCTTAACAGGAG 0.363000 20 55 0 0 0.008871 0 0 NINL 22981 broad.mit.edu 37 20 25460820 25460820 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:25460820G>A ENST00000278886.6 - 15 1967 c.1894C>T c.(1894-1896)Ctc>Ttc p.L632F NINL_ENST00000422516.1_Missense_Mutation_p.L632F NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 632 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 TGGGTCCTGAGGTCTTGGTAA 0.547000 11 43 0 0 0.002450 0 0 FAM83B 222584 broad.mit.edu 37 6 54806620 54806620 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:54806620A>G ENST00000306858.7 + 5 2967 c.2851A>G c.(2851-2853)Agc>Ggc p.S951G NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 951 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TCAGCCAACAAGCAACATGCC 0.438000 12 46 0 0 0.010729 0 0 HGF 3082 broad.mit.edu 37 7 81372745 81372745 + Silent SNP G G A rs147312555 by1000genomes TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:81372745G>A ENST00000222390.5 - 7 1015 c.789C>T c.(787-789)ccC>ccT p.P263P HGF_ENST00000457544.2_Silent_p.P258P|HGF_ENST00000453411.1_Silent_p.P258P|HGF_ENST00000444829.2_Silent_p.P263P NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 263 Kringle 2. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 GCTGGCCATCGGGATTGCGGC 0.493000 9 36 0 0 0.004482 0 0 APLNR 187 broad.mit.edu 37 11 57003729 57003729 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:57003729G>A ENST00000606794.1 - 1 946 c.750C>T c.(748-750)atC>atT p.I250I NM_005161.4 NP_005152.1 P35414 APJ_HUMAN apelin receptor 250 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 CCAGCACCACGATGATGCTGA 0.612000 7 20 0 0 0.001984 0 0 CCNB3 85417 broad.mit.edu 37 X 50052150 50052150 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:50052150C>T ENST00000376042.1 + 6 1279 c.981C>T c.(979-981)ttC>ttT p.F327F CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Silent_p.F327F Q8WWL7 CCNB3_HUMAN cyclin B3 327 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding p.F327L(2) breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) AGACACTTTTCCAAGAGCTAT 0.438000 51 22 0 0 0.014410 0 0 GLI4 2738 broad.mit.edu 37 8 144358575 144358575 + Nonsense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:144358575C>A ENST00000340042.1 + 4 817 c.732C>A c.(730-732)tgC>tgA p.C244* GLI4_ENST00000523812.1_3'UTR|GLI4_ENST00000523522.1_Nonsense_Mutation_p.C244* NM_138465.3 NP_612474.1 P10075 GLI4_HUMAN GLI family zinc finger 4 244 nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(5) 9 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) GCGGCCAGTGCGGCCGCGCCT 0.687000 18 22 1.00905e-13 1.10552e-13 0.008871 1 0 SALL1 6299 broad.mit.edu 37 16 51171368 51171368 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:51171368G>A ENST00000440970.1 - 3 3770 c.3339C>T c.(3337-3339)ccC>ccT p.P1113P SALL1_ENST00000541611.1_Silent_p.P33P|SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000251020.4_Silent_p.P1210P NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 1210 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GGAACTTGACGGGATTGCCTC 0.557000 9 31 0 0 0.004482 0 0 MXD3 83463 broad.mit.edu 37 5 176734771 176734771 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:176734771G>A ENST00000423571.2 - 5 580 c.516C>T c.(514-516)ccC>ccT p.P172P MXD3_ENST00000439742.2_Intron|MXD3_ENST00000513063.1_Intron|MXD3_ENST00000427908.2_Intron Q9BW11 MAD3_HUMAN MAX dimerization protein 3 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCTCAGCCTCGGGGCACTCAC 0.697000 5 10 0 0 0.000602 0 0 ALPK3 57538 broad.mit.edu 37 15 85383221 85383221 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:85383221C>T ENST00000258888.5 + 5 1484 c.1317C>T c.(1315-1317)gtC>gtT p.V439V NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 439 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) GCCCCTCGGTCCCTACCAGGG 0.657000 9 13 0 0 0.004482 0 0 OR52J3 119679 broad.mit.edu 37 11 5068044 5068044 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:5068044G>A ENST00000380370.1 + 1 289 c.289G>A c.(289-291)Gga>Aga p.G97R NM_001001916.2 NP_001001916.2 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, member 3 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) GATTAACTATGGAGCTTGTGT 0.502000 16 44 0 0 0.006122 0 0 TSPAN2 10100 broad.mit.edu 37 1 115615558 115615558 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:115615558G>A ENST00000369516.2 - 2 171 c.140C>T c.(139-141)tCa>tTa p.S47L TSPAN2_ENST00000369514.2_Missense_Mutation_p.S47L|TSPAN2_ENST00000369515.2_Missense_Mutation_p.S47L NM_005725.4 NP_005716.2 O60636 TSN2_HUMAN tetraspanin 2 47 integral to membrane central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1) 10 Lung SC(450;0.211) all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) CTTGTCCTCTGATGATAACTC 0.498000 7 58 0 0 0.006214 0 0 NRM 11270 broad.mit.edu 37 6 30657977 30657977 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:30657977G>A ENST00000259953.4 - 3 528 c.177C>T c.(175-177)atC>atT p.I59I NRM_ENST00000470733.1_5'UTR|NRM_ENST00000376421.5_Silent_p.I59I|NRM_ENST00000376420.5_Silent_p.I59I NM_001270707.1 NP_001257636.1 Q8IXM6 NRM_HUMAN nurim (nuclear envelope membrane protein) 59 integral to membrane|nuclear inner membrane large_intestine(1)|lung(2) 3 GGGGGGCAAGGATGCTGCGGT 0.562000 27 43 0 0 0.006320 0 0 SMO 6608 broad.mit.edu 37 7 128852256 128852256 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:128852256G>A ENST00000249373.3 + 12 2608 c.2328G>A c.(2326-2328)atG>atA p.M776I RP11-286H14.8_ENST00000466717.1_RNA NM_005631.4 NP_005622.1 Q99835 SMO_HUMAN smoothened, frizzled family receptor 776 adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CCAACCTGATGGACACAGAAC 0.602000 Mis skin basal cell 5 77 0 0 0.001168 0 0 NES 10763 broad.mit.edu 37 1 156642749 156642749 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:156642749G>A ENST00000368223.3 - 4 1363 c.1231C>T c.(1231-1233)Cct>Tct p.P411S NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 411 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGAGAGAGAGGAGCATCCTGG 0.657000 40 87 0 0 0.007835 0 0 NOTCH4 4855 broad.mit.edu 37 6 32165227 32165227 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:32165227C>T ENST00000375023.3 - 27 5039 c.4901G>A c.(4900-4902)gGg>gAg p.G1634E NOTCH4_ENST00000443903.2_Missense_Mutation_p.G43E NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1634 cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GGGGGTCTCCCCAGTGCCCAC 0.697000 81 326 0 0 0.014410 0 0 SDPR 8436 broad.mit.edu 37 2 192701319 192701319 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:192701319G>A ENST00000304141.4 - 2 937 c.608C>T c.(607-609)tCc>tTc p.S203F NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 203 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) ATCATCTGAGGAGAGGTCCAC 0.532000 15 46 0 0 0.003163 0 0 OSBPL3 26031 broad.mit.edu 37 7 24901383 24901383 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:24901383C>T ENST00000313367.2 - 10 1327 c.876G>A c.(874-876)ccG>ccA p.P292P OSBPL3_ENST00000396431.1_Silent_p.P261P|OSBPL3_ENST00000353930.1_Silent_p.P292P|OSBPL3_ENST00000431825.2_Silent_p.P261P|OSBPL3_ENST00000352860.1_Silent_p.P261P|OSBPL3_ENST00000409069.1_Silent_p.P261P|OSBPL3_ENST00000396429.1_Silent_p.P292P NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 292 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 AAAAAGGTTTCGGGACCTGAA 0.358000 23 31 0 0 0.005443 0 0 PTPRF 5792 broad.mit.edu 37 1 44072119 44072119 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:44072119C>T ENST00000359947.4 + 20 4032 c.3692C>T c.(3691-3693)cCc>cTc p.P1231L PTPRF_ENST00000372414.3_Missense_Mutation_p.P1231L|PTPRF_ENST00000372413.3_Missense_Mutation_p.P1222L|PTPRF_ENST00000438120.1_Missense_Mutation_p.P1222L|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.P579L NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1231 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TTGAAGGAACCCATGGACCAG 0.587000 42 111 0 0 0.008740 0 0 PDIA4 9601 broad.mit.edu 37 7 148709376 148709376 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:148709376G>A ENST00000286091.4 - 5 923 c.691C>T c.(691-693)Ccc>Tcc p.P231S NM_004911.4 NP_004902.1 P13667 PDIA4_HUMAN protein disulfide isomerase family A, member 4 231 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity large_intestine(6)|lung(15)|ovary(2)|prostate(1) 24 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) TTTGCCAGGGGAATTGGAGGA 0.542000 17 38 0 0 0.004990 0 0 DENND1B 163486 broad.mit.edu 37 1 197704718 197704718 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:197704718G>A ENST00000235453.4 - 3 327 c.50C>T c.(49-51)tCg>tTg p.S17L DENND1B_ENST00000367396.3_Intron|DENND1B_ENST00000400967.2_Missense_Mutation_p.S17L Q6P3S1 DEN1B_HUMAN DENN/MADD domain containing 1B 0 clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 22 GGTATTACTCGAAAATACAGG 0.433000 13 29 0 0 0.003163 0 0 FREM1 158326 broad.mit.edu 37 9 14842657 14842657 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:14842657C>T ENST00000380881.4 - 10 2213 c.1396_splice c.e10-1 p.G466_splice FREM1_ENST00000380880.3_Splice_Site_p.G465_splice|FREM1_ENST00000422223.2_Splice_Site_p.G465_splice Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 465 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) ACCCTTTCCCCCCTGAGGGAG 0.537000 24 28 0 0 0.002780 0 0 C10orf2 56652 broad.mit.edu 37 10 102753166 102753166 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:102753166C>T ENST00000311916.2 + 5 2139 c.1954C>T c.(1954-1956)Ccc>Tcc p.P652S C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000370228.1_3'UTR NM_001163813.1|NM_021830.4 NP_001157285.1|NP_068602.2 Q96RR1 PEO1_HUMAN chromosome 10 open reading frame 2 652 cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1) 24 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) GGCCAAAAAGCCCTCTTCTGG 0.542000 14 45 0 0 0.002450 0 0 CHD5 26038 broad.mit.edu 37 1 6184100 6184100 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:6184100C>T ENST00000262450.3 - 31 4706 c.4607G>A c.(4606-4608)gGg>gAg p.G1536E CHD5_ENST00000378021.1_Missense_Mutation_p.G393E NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1536 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) CGACTTCTTCCCCTCGGGCCC 0.652000 12 22 0 0 0.001855 0 0 PARVA 55742 broad.mit.edu 37 11 12530148 12530148 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:12530148C>T ENST00000334956.8 + 7 1138 c.795C>T c.(793-795)ctC>ctT p.L265L PARVA_ENST00000550549.1_Silent_p.L225L|PARVA_ENST00000539723.1_Silent_p.L225L|PARVA_ENST00000538608.1_Silent_p.L172L NM_018222.4 NP_060692.2 Q9NVD7 PARVA_HUMAN parvin, alpha 225 CH 2. cell adhesion|cell junction assembly|cilium morphogenesis actin cytoskeleton|cytosol|focal adhesion actin binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4) 11 Epithelial(150;0.00624) AAGGAATCCTCCAGTCTCGGC 0.433000 17 67 0 0 0.004990 0 0 OR51F2 119694 broad.mit.edu 37 11 4843255 4843255 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:4843255C>T ENST00000322110.5 + 1 705 c.640C>T c.(640-642)Ctg>Ttg p.L214L MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CATCCTTGGTCTGTTTGCGCT 0.468000 35 74 0 0 0.006230 0 0 JPH4 84502 broad.mit.edu 37 14 24040512 24040512 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:24040512G>A ENST00000397118.3 - 6 2330 c.1428C>T c.(1426-1428)tgC>tgT p.C476C JPH4_ENST00000544177.1_Silent_p.C141C|JPH4_ENST00000356300.4_Silent_p.C476C NM_032452.2 NP_115828.2 Q96JJ6 JPH4_HUMAN junctophilin 4 476 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) GTGGGCTCCGGCAGGCAGGGG 0.682000 10 58 0 0 0.006214 0 0 RASGEF1C 255426 broad.mit.edu 37 5 179555543 179555543 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:179555543C>T ENST00000393371.2 - 4 802 c.506G>A c.(505-507)gGg>gAg p.G169E RASGEF1C_ENST00000519883.1_5'UTR|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.G18E|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.G169E Q8N431 RGF1C_HUMAN RasGEF domain family, member 1C 169 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity p.G169E(1) breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 12 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACCTTCTGGCCCCTGGCGCAG 0.627000 9 25 0 0 0.004482 0 0 COMMD2 51122 broad.mit.edu 37 3 149459388 149459388 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:149459388G>A ENST00000473414.1 - 5 574 c.520C>T c.(520-522)Cat>Tat p.H174Y NM_016094.3 NP_057178.2 Q86X83 COMD2_HUMAN COMM domain containing 2 174 COMM. protein binding NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1) 9 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) TGAACCAAATGGAGCAGGGTG 0.418000 17 51 0 0 0.004007 0 0 GAPVD1 26130 broad.mit.edu 37 9 128086088 128086088 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:128086088C>T ENST00000470056.1 + 9 1904 c.1744C>T c.(1744-1746)Cgc>Tgc p.R582C GAPVD1_ENST00000312123.9_Missense_Mutation_p.R561C|GAPVD1_ENST00000495955.1_Missense_Mutation_p.R582C|GAPVD1_ENST00000297933.6_Missense_Mutation_p.R582C|GAPVD1_ENST00000394105.2_Missense_Mutation_p.R582C|GAPVD1_ENST00000394104.2_Missense_Mutation_p.R582C|GAPVD1_ENST00000394083.2_Missense_Mutation_p.R561C|GAPVD1_ENST00000265956.4_Missense_Mutation_p.R582C Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 582 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 TCCTTCAAATCGCTCCAATTC 0.423000 7 12 0 0 0.006214 0 0 MYBPC2 4606 broad.mit.edu 37 19 50954567 50954567 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:50954567G>A ENST00000357701.5 + 15 1660 c.e15+1 NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) CCCAAGCAAGGTGAGCACCAC 0.612000 20 38 0 0 0.002780 0 0 NLRP13 126204 broad.mit.edu 37 19 56423273 56423273 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:56423273C>T ENST00000588751.1 - 5 1934 c.1910G>A c.(1909-1911)cGa>cAa p.R637Q NLRP13_ENST00000342929.3_Missense_Mutation_p.R637Q Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 637 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GTGAAAAAGTCGTAGAATGTG 0.413000 14 27 0 0 0.002450 0 0 RAB40AL 282808 broad.mit.edu 37 X 102192851 102192851 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:102192851C>T ENST00000218249.5 + 1 652 c.605C>T c.(604-606)tCc>tTc p.S202F LL0XNC01-237H1.3_ENST00000413528.1_RNA NM_001031834.1 NP_001027004.1 P0C0E4 RB40L_HUMAN RAB40A, member RAS oncogene family-like 202 SOCS box. protein transport|small GTPase mediated signal transduction mitochondrion|plasma membrane GTP binding endometrium(4)|large_intestine(2)|lung(3)|ovary(3) 12 ACCATCGTGTCCTGCACACCT 0.597000 32 12 0 0 0.012213 0 0 RERG 85004 broad.mit.edu 37 12 15262321 15262321 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:15262321G>A ENST00000256953.2 - 5 659 c.323C>T c.(322-324)cCc>cTc p.P108L RERG_ENST00000536465.1_Missense_Mutation_p.P108L|RERG_ENST00000538313.1_Missense_Mutation_p.P108L|RERG_ENST00000546331.1_Missense_Mutation_p.P89L NM_032918.2 NP_116307.1 Q96A58 RERG_HUMAN RAS-like, estrogen-regulated, growth inhibitor 108 negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction cytosol|membrane|nucleus estrogen receptor binding|GDP binding|GTP binding|GTPase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 CACATTCTTGGGCTTTTTGAT 0.488000 29 183 0 0 0.005443 0 0 PRLR 5618 broad.mit.edu 37 5 35066066 35066066 + Nonsense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:35066066C>A ENST00000382002.5 - 10 1420 c.994G>T c.(994-996)Gaa>Taa p.E332* PRLR_ENST00000310101.5_Nonsense_Mutation_p.E332*|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Nonsense_Mutation_p.E332*|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000342362.5_Nonsense_Mutation_p.E231*|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000511486.1_Nonsense_Mutation_p.E231* NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 332 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CTTGGGTGTTCTTTTGAATGG 0.478000 16 35 1.96292e-10 2.14669e-10 0.010504 1 0 LOC440040 440040 broad.mit.edu 37 11 49598031 49598031 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:49598031G>A ENST00000527477.1 + 0 635 CCCTGGAAAGGATCAATTCAG 0.537000 6 12 0 0 0.001984 0 0 ALPK2 115701 broad.mit.edu 37 18 56204564 56204564 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:56204564G>A ENST00000361673.3 - 5 3068 c.2855C>T c.(2854-2856)cCt>cTt p.P952L RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 952 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 TTGCACTAAAGGATTGTTCTC 0.512000 14 27 0 0 0.001855 0 0 ABCD2 225 broad.mit.edu 37 12 39997808 39997808 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:39997808C>T ENST00000308666.3 - 5 1541 c.1405_splice c.e5-1 p.G469_splice NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 469 fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 AATAACTTTTCCTGTAATTAA 0.313000 33 24 0 0 0.009535 0 0 TRMT12 55039 broad.mit.edu 37 8 125463294 125463294 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:125463294C>T ENST00000328599.3 + 1 247 c.126C>T c.(124-126)ctC>ctT p.L42L TRMT12_ENST00000521443.1_3'UTR NM_017956.3 NP_060426.2 Q53H54 TYW2_HUMAN tRNA methyltransferase 12 homolog (S. cerevisiae) 42 tRNA processing methyltransferase activity breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) GGCAGAAACTCTTTGATACAC 0.557000 8 40 0 0 0.004482 0 0 KCNA10 3744 broad.mit.edu 37 1 111061129 111061129 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:111061129C>T ENST00000369771.2 - 1 668 c.281G>A c.(280-282)gGg>gAg p.G94E NM_005549.2 NP_005540.1 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 10 94 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) AAATCTCAGCCCAGCAATGTT 0.532000 31 68 0 0 0.012213 0 0 L2HGDH 79944 broad.mit.edu 37 14 50732104 50732104 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:50732104G>A ENST00000267436.4 - 9 1565 c.1168C>T c.(1168-1170)Cct>Tct p.P390S L2HGDH_ENST00000421284.3_Missense_Mutation_p.P390S|L2HGDH_ENST00000261699.4_Missense_Mutation_p.P390S Q9H9P8 L2HDH_HUMAN L-2-hydroxyglutarate dehydrogenase 390 2-oxoglutarate metabolic process|cellular protein metabolic process integral to mitochondrial inner membrane 2-hydroxyglutarate dehydrogenase activity kidney(1)|large_intestine(4)|lung(3)|ovary(2) 10 all_epithelial(31;0.000599)|Breast(41;0.0102) GTAATTTCAGGGATGAATTTT 0.373000 5 29 0 0 0.000602 0 0 KCNG4 93107 broad.mit.edu 37 16 84255835 84255835 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:84255835G>A ENST00000308251.4 - 3 1616 c.1548C>T c.(1546-1548)atC>atT p.I516I NM_172347.2 NP_758857.1 Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, member 4 516 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 ACATGTGCATGATAGGCAAGG 0.542000 37 108 0 0 0.009718 0 0 CLDN18 51208 broad.mit.edu 37 3 137717715 137717715 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:137717715C>T ENST00000343735.4 + 1 139 c.5C>T c.(4-6)gCc>gTc p.A2V NM_001002026.2 NP_001002026.1 P56856 CLD18_HUMAN claudin 18 2 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 6 GCCACCATGGCCGTGACTGCC 0.572000 13 32 0 0 0.013537 0 0 SLC22A2 6582 broad.mit.edu 37 6 160679405 160679405 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:160679405C>T ENST00000366952.1 - 3 1803 c.322G>A c.(322-324)Gag>Aag p.E108K SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Missense_Mutation_p.E129K O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 129 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) CCAGGCGTCTCGTACACCCAG 0.622000 9 87 0 0 0.013537 0 0 THPO 7066 broad.mit.edu 37 3 184090693 184090693 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:184090693C>T ENST00000204615.7 - 6 884 c.670G>A c.(670-672)Gga>Aga p.G224R EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000421442.2_Missense_Mutation_p.G185E|THPO_ENST00000445696.2_Missense_Mutation_p.G220R|THPO_ENST00000477594.1_5'UTR NM_000460.2|NM_001177597.1|NM_001177598.1 NP_000451.1|NP_001171068.1|NP_001171069.1 P40225 TPO_HUMAN thrombopoietin 224 cell proliferation|platelet activation extracellular space cytokine activity|growth factor activity|hormone activity NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCTCTGAATCCCTGCTGCCAC 0.522000 7 36 0 0 0.003080 0 0 GRIA3 2892 broad.mit.edu 37 X 122551295 122551295 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:122551295C>T ENST00000264357.5 + 11 1835 c.1543C>T c.(1543-1545)Cgt>Tgt p.R515C GRIA3_ENST00000371251.1_Missense_Mutation_p.R515C|GRIA3_ENST00000542149.1_Missense_Mutation_p.R515C|GRIA3_ENST00000541091.1_Missense_Mutation_p.R499C|GRIA3_ENST00000371256.5_Missense_Mutation_p.R515C NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 515 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) AACATTGGTCCGTGAAGAAGT 0.363000 51 38 0 0 0.014410 0 0 BPIFB2 80341 broad.mit.edu 37 20 31607532 31607532 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:31607532C>T ENST00000170150.3 + 11 1251 c.1056C>T c.(1054-1056)ttC>ttT p.F352F NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 352 extracellular region lipid binding ACTCGGCTTTCCAGTCCCTCT 0.637000 10 14 0 0 0.008291 0 0 PDE11A 50940 broad.mit.edu 37 2 178936631 178936631 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:178936631C>T ENST00000286063.5 - 1 851 c.534G>A c.(532-534)tcG>tcA p.S178S PDE11A_ENST00000358450.4_Intron NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 178 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) GATTCACTCTCGATTCCAGCA 0.532000 Primary Pigmented Nodular Adrenocortical Disease, Familial 18 42 0 0 0.007413 0 0 VPS13D 55187 broad.mit.edu 37 1 12389938 12389938 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:12389938C>T ENST00000358136.3 + 37 8380 c.8250C>T c.(8248-8250)ttC>ttT p.F2750F VPS13D_ENST00000356315.4_Silent_p.F2750F NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 2750 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) ATGCCCACTTCACCCTTTCTG 0.418000 11 31 0 0 0.013537 0 0 TNC 3371 broad.mit.edu 37 9 117810577 117810577 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:117810577C>T ENST00000350763.4 - 16 5225 c.4814G>A c.(4813-4815)gGg>gAg p.G1605E TNC_ENST00000481475.1_5'UTR|TNC_ENST00000542877.1_Intron|TNC_ENST00000340094.3_Missense_Mutation_p.G1241E|TNC_ENST00000535648.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000423613.2_Intron|TNC_ENST00000341037.4_Intron NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1605 Fibronectin type-III 11. SGFTQGHQT -> LWLHPRASN (in Ref. 1; no nucleotide entry, 3; AAA88083 and 7; AAA52703). 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 GGTTTGATGCCCTTGGGTGAA 0.488000 34 88 0 0 0.004878 0 0 ABCA12 26154 broad.mit.edu 37 2 215845252 215845252 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:215845252C>T ENST00000272895.7 - 31 4914 c.4695G>A c.(4693-4695)aaG>aaA p.K1565K ABCA12_ENST00000389661.4_Silent_p.K1247K NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1565 ABC transporter 1. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CAAAGGCTTCCTTGAGGTAAA 0.488000 30 54 0 0 0.010818 0 0 ZNF512 84450 broad.mit.edu 37 2 27844028 27844028 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:27844028C>T ENST00000355467.4 + 14 1487 c.1404C>T c.(1402-1404)ttC>ttT p.F468F RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Silent_p.F467F|ZNF512_ENST00000556601.1_Silent_p.F337F|ZNF512_ENST00000416005.2_Silent_p.F439F|ZNF512_ENST00000413371.2_Silent_p.F391F Q96ME7 ZN512_HUMAN zinc finger protein 512 468 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.F468F(2) breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155) AGGACTGGTTCGTTGTAAACC 0.418000 22 30 0 0 0.003954 0 0 HOMER2 9455 broad.mit.edu 37 15 83561495 83561495 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:83561495G>A ENST00000304231.8 - 2 296 c.104C>T c.(103-105)tCc>tTc p.S35F HOMER2_ENST00000450735.2_Missense_Mutation_p.S35F|HOMER2_ENST00000399166.2_Missense_Mutation_p.S35F|HOMER2_ENST00000426485.1_Missense_Mutation_p.S35F NM_199330.2 NP_955362.1 Q9NSB8 HOME2_HUMAN homer homolog 2 (Drosophila) 35 WH1. metabotropic glutamate receptor signaling pathway cell junction|cytoplasm|postsynaptic density|postsynaptic membrane cervix(1)|endometrium(2)|lung(6) 9 ATAGAAGTAGGAAACGGTGAC 0.517000 21 78 0 0 0.002780 0 0 SLC9A2 6549 broad.mit.edu 37 2 103236592 103236592 + Missense_Mutation SNP G G C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:103236592G>C ENST00000233969.2 + 1 427 c.285G>C c.(283-285)aaG>aaC p.K95N NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 95 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 CCCTGGCCAAGATTGGTGAGC 0.612000 12 13 0 0 0.010729 0 0 PHF21B 112885 broad.mit.edu 37 22 45283929 45283929 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:45283929G>A ENST00000313237.5 - 10 1261 c.1111C>T c.(1111-1113)Ccg>Tcg p.P371S PHF21B_ENST00000396103.3_Missense_Mutation_p.P329S|PHF21B_ENST00000447824.3_3'UTR|PHF21B_ENST00000404079.2_Missense_Mutation_p.P317S|PHF21B_ENST00000403565.1_Missense_Mutation_p.P167S NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B 371 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) TAGGCCCCCGGGCAGGTGCCG 0.677000 6 7 0 0 0.001984 0 0 GLTSCR1 29998 broad.mit.edu 37 19 48183358 48183358 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:48183358G>A ENST00000396720.3 + 6 1125 c.931G>A c.(931-933)Ggg>Agg p.G311R CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 311 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) CGGAGGCGCGGGGGCCGCCTC 0.726000 3 5 0 0 0.009096 0 0 MPL 4352 broad.mit.edu 37 1 43812583 43812583 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:43812583G>A ENST00000372470.3 + 8 1328 c.1286G>A c.(1285-1287)gGa>gAa p.G429E MPL_ENST00000413998.2_Missense_Mutation_p.G429E NM_005373.2 NP_005364.1 P40238 TPOR_HUMAN myeloproliferative leukemia virus oncogene 429 Fibronectin type-III 2. cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 567 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CGATACACAGGAGAAGGCCAT 0.562000 Mis MPD MPD congenital amegakaryocytic thrombocytopenia 22 43 0 0 0.014323 0 0 MYH1 4619 broad.mit.edu 37 17 10402081 10402081 + Missense_Mutation SNP C C T rs146728905 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:10402081C>T ENST00000226207.5 - 30 4137 c.4043G>A c.(4042-4044)cGg>cAg p.R1348Q CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1348 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 ATACTGTTCCCGCAGCAGGTC 0.507000 32 28 0 0 0.006999 0 0 TNFRSF10D 8793 broad.mit.edu 37 8 22995467 22995467 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:22995467C>T ENST00000312584.3 - 9 1171 c.1077G>A c.(1075-1077)aaG>aaA p.K359K NM_003840.4 NP_003831.2 Q9UBN6 TR10D_HUMAN tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain 359 Death; truncated. anti-apoptosis|apoptosis integral to membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) GAATTGTTTCCTTTGCATGTC 0.493000 8 26 0 0 0.003080 0 0 FSCN1 6624 broad.mit.edu 37 7 5643510 5643510 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:5643510C>T ENST00000382361.3 + 4 1242 c.1128C>T c.(1126-1128)ttC>ttT p.F376F FSCN1_ENST00000340250.6_Silent_p.F355F NM_003088.3 NP_003079.1 Q16658 FSCN1_HUMAN fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) 376 actin filament bundle assembly|cell migration|cell proliferation cell junction|cytoplasm|filopodium|invadopodium|stress fiber actin filament binding|drug binding|protein binding, bridging central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13) CAGAGCTCTTCCTCATGAAGC 0.647000 10 42 0 0 0.010729 0 0 PYDC2 152138 broad.mit.edu 37 3 191179243 191179243 + Nonstop_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:191179243T>A ENST00000518817.1 + 1 292 c.292T>A c.(292-294)Taa>Aaa p.*98K NM_001083308.1 NP_001076777.1 Q56P42 PYDC2_HUMAN pyrin domain containing 2 0 cytoplasm|nucleus breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 10 GCCCCCACCTTAACCCCTCAG 0.478000 25 43 0 0 0.005443 0 0 FLG2 388698 broad.mit.edu 37 1 152324960 152324960 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:152324960C>T ENST00000388718.5 - 3 5374 c.5302G>A c.(5302-5304)Gga>Aga p.G1768R FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1768 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) TGTATAGTTCCATGTCTCTCA 0.502000 48 105 0 0 0.014410 0 0 MYH6 4624 broad.mit.edu 37 14 23854192 23854192 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:23854192G>A ENST00000405093.3 - 35 5292 c.5222C>T c.(5221-5223)tCg>tTg p.S1741L MYH6_ENST00000356287.3_Missense_Mutation_p.S1741L NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1741 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle p.S1741L(1) breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CTCCACTTCCGACTGGAGCTG 0.517000 11 30 0 0 0.008291 0 0 MYLK 4638 broad.mit.edu 37 3 123419455 123419455 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:123419455G>A ENST00000360772.3 - 19 3238 c.2860C>T c.(2860-2862)Cgc>Tgc p.R954C MYLK_ENST00000360304.3_Missense_Mutation_p.R954C|MYLK_ENST00000346322.5_Missense_Mutation_p.R885C|MYLK_ENST00000475616.1_Missense_Mutation_p.R954C|MYLK_ENST00000359169.1_Missense_Mutation_p.R954C Q15746 MYLK_HUMAN myosin light chain kinase 954 5 X 28 AA approximate tandem repeats.|Actin-binding (calcium/calmodulin- sensitive) (By similarity).|Calmodulin-binding (By similarity). aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) AGGACAGAGCGAAAATCGACC 0.597000 15 30 0 0 0.003163 0 0 RNF123 63891 broad.mit.edu 37 3 49735880 49735880 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:49735880T>C ENST00000327697.6 + 8 635 c.491T>C c.(490-492)gTt>gCt p.V164A RNF123_ENST00000432042.1_Missense_Mutation_p.V18A NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 164 B30.2/SPRY. cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) TAGGAGGGGGTTGGAGATACA 0.567000 14 34 0 0 0.003163 0 0 THSD7B 80731 broad.mit.edu 37 2 137814328 137814328 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:137814328G>A ENST00000409968.1 + 3 656 c.478G>A c.(478-480)Gaa>Aaa p.E160K THSD7B_ENST00000272643.3_Missense_Mutation_p.E160K|THSD7B_ENST00000413152.2_Missense_Mutation_p.E129K|THSD7B_ENST00000543459.1_Missense_Mutation_p.E19K 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) TGAAATATGCGAACACTTTGC 0.517000 28 92 0 0 0.005443 0 0 OR51B6 390058 broad.mit.edu 37 11 5373574 5373574 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:5373574C>T ENST00000380219.1 + 1 837 c.837C>T c.(835-837)ttC>ttT p.F279F HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_001004750.1 NP_001004750.1 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, member 6 279 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 21 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACATCCACTTCCTTTTCCCAC 0.393000 20 60 0 0 0.010504 0 0 TLE1 7088 broad.mit.edu 37 9 84226687 84226687 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:84226687G>A ENST00000376499.3 - 13 2315 c.1251C>T c.(1249-1251)ccC>ccT p.P417P TLE1_ENST00000376472.1_Silent_p.P92P|TLE1_ENST00000376484.1_Silent_p.P92P NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 417 Pro/Ser-rich. negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 GGCCTACCATGGGGGAGCGCC 0.687000 3 8 0 0 0.009096 0 0 PTK2B 2185 broad.mit.edu 37 8 27315813 27315813 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:27315813C>T ENST00000397501.1 + 36 3625 c.2817C>T c.(2815-2817)atC>atT p.I939I PTK2B_ENST00000346049.5_Silent_p.I939I|PTK2B_ENST00000517339.1_Silent_p.I897I|PTK2B_ENST00000420218.2_Silent_p.I897I|PTK2B_ENST00000338238.4_Silent_p.I897I|PTK2B_ENST00000544172.1_Silent_p.I939I NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 939 Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity). apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) TCCTACAGATCGAGGGCACCC 0.557000 7 18 0 0 0.004482 0 0 FUT3 2525 broad.mit.edu 37 19 5844472 5844472 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:5844472G>A ENST00000303225.6 - 3 1013 c.379C>T c.(379-381)Ccg>Tcg p.P127S FUT3_ENST00000589620.1_Missense_Mutation_p.P127S|FUT3_ENST00000589918.1_Missense_Mutation_p.P127S|FUT3_ENST00000458379.2_Missense_Mutation_p.P127S NM_000149.3 NP_000140.1 P21217 FUT3_HUMAN fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) 127 protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 TGCCCCTGCGGCCTCGGGGAA 0.597000 28 55 0 0 0.006320 0 0 ANAPC2 29882 broad.mit.edu 37 9 140074659 140074659 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:140074659A>G ENST00000323927.2 - 10 1868 c.1864T>C c.(1864-1866)Tac>Cac p.Y622H NM_013366.3 NP_037498.1 Q9UJX6 ANC2_HUMAN anaphase promoting complex subunit 2 622 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) TTCTTGCAGTAAGCCTCCAGG 0.622000 5 39 0 0 0.003080 0 0 CACNA1G 8913 broad.mit.edu 37 17 48649321 48649321 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:48649321C>T ENST00000352832.5 + 5 1041 c.669C>T c.(667-669)ttC>ttT p.F223F CACNA1G_ENST00000358244.5_Silent_p.F223F|CACNA1G_ENST00000507896.1_Silent_p.F223F|CACNA1G_ENST00000354983.4_Silent_p.F223F|CACNA1G_ENST00000502264.1_Silent_p.F223F|CACNA1G_ENST00000515411.1_Silent_p.F223F|CACNA1G_ENST00000507609.1_Silent_p.F223F|CACNA1G_ENST00000360761.4_Silent_p.F223F|CACNA1G_ENST00000513964.1_Silent_p.F223F|CACNA1G_ENST00000416767.4_Silent_p.F223F|CACNA1G_ENST00000514717.1_Silent_p.F223F|CACNA1G_ENST00000503485.1_Silent_p.F223F|CACNA1G_ENST00000510366.1_Silent_p.F223F|CACNA1G_ENST00000514181.1_Silent_p.F223F|CACNA1G_ENST00000507336.1_Silent_p.F223F|CACNA1G_ENST00000515165.1_Silent_p.F223F|CACNA1G_ENST00000429973.2_Silent_p.F223F|CACNA1G_ENST00000514079.1_Silent_p.F223F|CACNA1G_ENST00000359106.5_Silent_p.F223F|CACNA1G_ENST00000512389.1_Silent_p.F223F|CACNA1G_ENST00000515765.1_Silent_p.F223F|CACNA1G_ENST00000442258.2_Silent_p.F223F|CACNA1G_ENST00000510115.1_Silent_p.F223F|CACNA1G_ENST00000507510.2_Silent_p.F223F|CACNA1G_ENST00000513689.2_Silent_p.F223F|CACNA1G_ENST00000505165.1_Silent_p.F223F 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 223 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) TCGTCTTCTTCATCTTCGGCA 0.597000 38 28 0 0 0.009718 0 0 PAPPA2 60676 broad.mit.edu 37 1 176740190 176740190 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:176740190T>A ENST00000367662.3 + 17 5753 c.4589T>A c.(4588-4590)aTt>aAt p.I1530N NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1530 Sushi 3. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GCTCCCCCTATTATTCTGAAT 0.517000 30 49 0 0 0.010818 0 0 ACSM2A 123876 broad.mit.edu 37 16 20477025 20477025 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:20477025G>A ENST00000573854.1 + 3 478 c.364G>A c.(364-366)Gtg>Atg p.V122M ACSM2A_ENST00000575690.1_Missense_Mutation_p.V122M|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Missense_Mutation_p.V43M|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.V122M|ACSM2A_ENST00000396104.2_Missense_Mutation_p.V122M|ACSM2A_ENST00000219054.6_Missense_Mutation_p.V122M NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 122 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 GTGGTGGCTGGTGATCCTGGG 0.582000 9 25 0 0 0.013537 0 0 KANK4 163782 broad.mit.edu 37 1 62739144 62739144 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:62739144C>T ENST00000371153.4 - 3 2010 c.1632G>A c.(1630-1632)ggG>ggA p.G544G KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 544 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 GGTGCTCCTTCCCTGGGAGAT 0.617000 25 38 0 0 0.005443 0 0 ITK 3702 broad.mit.edu 37 5 156667124 156667124 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:156667124C>T ENST00000422843.3 + 10 1056 c.904C>T c.(904-906)Cct>Tct p.P302S NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 302 SH2. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AAATGACAATCCTAAGCGATA 0.373000 T SYK peripheral T-cell lymphoma 66 243 0 0 0.014410 0 0 TRPC4 7223 broad.mit.edu 37 13 38237762 38237762 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:38237762G>A ENST00000379705.3 - 6 2336 c.1479C>T c.(1477-1479)atC>atT p.I493I TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000447043.1_Silent_p.I493I|TRPC4_ENST00000358477.2_Silent_p.I493I|TRPC4_ENST00000379681.3_Silent_p.I493I|TRPC4_ENST00000355779.2_Silent_p.I493I|TRPC4_ENST00000338947.5_Silent_p.I320I|TRPC4_ENST00000379673.2_Silent_p.I493I|TRPC4_ENST00000379679.1_Silent_p.I320I Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 493 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TAAACAGTGAGATCAGACGCA 0.448000 18 9 0 0 0.006122 0 0 DROSHA 29102 broad.mit.edu 37 5 31451648 31451648 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:31451648G>A ENST00000511367.2 - 20 2918 c.2674C>T c.(2674-2676)Ctg>Ttg p.L892L DROSHA_ENST00000442743.1_Silent_p.L855L|DROSHA_ENST00000344624.3_Silent_p.L892L|DROSHA_ENST00000513349.1_Silent_p.L855L NM_013235.4 NP_037367.3 Q9NRR4 RNC_HUMAN drosha, ribonuclease type III 892 Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 ACCTGCAACAGACAACGATCT 0.403000 3 10 0 0 0.004672 0 0 FAM170A 340069 broad.mit.edu 37 5 118969875 118969875 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:118969875G>A ENST00000515256.1 + 3 604 c.432G>A c.(430-432)gaG>gaA p.E144E A1A519 F170A_HUMAN family with sequence similarity 170, member A 144 intracellular zinc ion binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 24 TCTCCTGGGAGACAGAGGAAA 0.473000 20 41 0 0 0.014323 0 0 NVL 4931 broad.mit.edu 37 1 224482072 224482072 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:224482072C>T ENST00000281701.6 - 12 1481 c.1222G>A c.(1222-1224)Gga>Aga p.G408R NVL_ENST00000469075.1_Missense_Mutation_p.G317R|NVL_ENST00000391875.2_Missense_Mutation_p.G302R|NVL_ENST00000482491.1_Missense_Mutation_p.G132R|NVL_ENST00000340871.4_Missense_Mutation_p.G219R|NVL_ENST00000361463.3_Missense_Mutation_p.G302R NM_002533.3 NP_002524.2 O15381 NVL_HUMAN nuclear VCP-like 408 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1) 42 GBM - Glioblastoma multiforme(131;0.00501) TTAGTAGCTCCAATAACTAGG 0.483000 7 47 0 0 0.001984 0 0 TEP1 7011 broad.mit.edu 37 14 20864104 20864104 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:20864104G>A ENST00000262715.5 - 11 1704 c.1664C>T c.(1663-1665)tCg>tTg p.S555L TEP1_ENST00000556935.1_Missense_Mutation_p.S447L NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 555 TROVE. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GTGGATCACCGACTTCTAGAA 0.512000 17 63 0 0 0.007413 0 0 BEND6 221336 broad.mit.edu 37 6 56879998 56879998 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:56879998G>A ENST00000370746.3 + 4 635 c.366G>A c.(364-366)ggG>ggA p.G122G BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000545789.1_Silent_p.G24G|BEND6_ENST00000484701.1_3'UTR NM_152731.2 NP_689944.2 Q5SZJ8 BEND6_HUMAN BEN domain containing 6 122 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 17 TTAAGGGTGGGGGAACCATGT 0.443000 15 25 0 0 0.004007 0 0 SCAND3 114821 broad.mit.edu 37 6 28547088 28547088 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:28547088C>T ENST00000452236.2 - 2 1146 c.529G>A c.(529-531)Gaa>Aaa p.E177K SCAND3_ENST00000530247.1_5'UTR NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 177 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 GATTCACATTCCATTCTATCT 0.428000 40 88 0 0 0.006230 0 0 WBSCR28 135886 broad.mit.edu 37 7 73279939 73279939 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:73279939C>T ENST00000320531.2 + 3 570 c.534C>T c.(532-534)ctC>ctT p.L178L NM_182504.3 NP_872310.2 Q6UE05 WBS28_HUMAN Williams-Beuren syndrome chromosome region 28 178 integral to membrane breast(2)|kidney(2)|lung(6)|skin(1) 11 Lung NSC(55;0.159) TAAGGAAGCTCCTGGTACAGC 0.582000 67 98 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179647575 179647575 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179647575C>T ENST00000589042.1 - 18 3282 c.3058G>A c.(3058-3060)Gag>Aag p.E1020K TTN_ENST00000460472.2_Missense_Mutation_p.E974K|TTN_ENST00000360870.5_Missense_Mutation_p.E1020K|TTN_ENST00000359218.5_Missense_Mutation_p.E974K|TTN_ENST00000342992.6_Missense_Mutation_p.E1020K|TTN_ENST00000342175.6_Missense_Mutation_p.E974K|TTN_ENST00000591111.1_Missense_Mutation_p.E1020K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1020 Ig-like 3. 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) GTTCCAGCCTCATTTACAGCA 0.507000 10 22 0 0 0.010729 0 0 NFASC 23114 broad.mit.edu 37 1 204943918 204943918 + Nonsense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:204943918A>T ENST00000367172.4 + 14 1853 c.1525A>T c.(1525-1527)Aaa>Taa p.K509* NFASC_ENST00000404907.1_Nonsense_Mutation_p.K520*|NFASC_ENST00000367171.4_Nonsense_Mutation_p.K509*|NFASC_ENST00000338515.6_Nonsense_Mutation_p.K509*|NFASC_ENST00000338586.6_Nonsense_Mutation_p.K509*|NFASC_ENST00000360049.4_Nonsense_Mutation_p.K520*|NFASC_ENST00000339876.6_Nonsense_Mutation_p.K509*|NFASC_ENST00000367169.4_Nonsense_Mutation_p.K509*|NFASC_ENST00000404076.1_Nonsense_Mutation_p.K503*|NFASC_ENST00000403080.1_Nonsense_Mutation_p.K509*|NFASC_ENST00000539706.1_Nonsense_Mutation_p.K520*|NFASC_ENST00000401399.1_Nonsense_Mutation_p.K509*|NFASC_ENST00000513543.1_Nonsense_Mutation_p.K520*|NFASC_ENST00000367170.4_Nonsense_Mutation_p.K509* O94856 NFASC_HUMAN neurofascin 509 Ig-like C2-type 5. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CATCCTGGGCAAAGCTGAAAA 0.527000 9 83 0 0 0.006214 0 0 FCRL1 115350 broad.mit.edu 37 1 157772375 157772375 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:157772375G>A ENST00000358292.3 - 4 450 c.399C>T c.(397-399)atC>atT p.I133I FCRL1_ENST00000368176.3_Silent_p.I133I|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Silent_p.I133I NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 133 Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CAACTGAGCAGATGAGGACCA 0.547000 13 31 0 0 0.001855 0 0 NPY4R 5540 broad.mit.edu 37 10 47087788 47087788 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:47087788C>T ENST00000374312.1 + 3 1424 c.1005C>T c.(1003-1005)gcC>gcT p.A335A NPY4R_ENST00000395716.1_Silent_p.A335A NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 p.A335A(1) AGATCAAGGCCCTGGTGCTGA 0.552000 10 82 0 0 0.010729 0 0 SORL1 6653 broad.mit.edu 37 11 121457003 121457003 + Missense_Mutation SNP G G C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:121457003G>C ENST00000260197.7 + 27 3908 c.3779G>C c.(3778-3780)cGt>cCt p.R1260P SORL1_ENST00000525532.1_Missense_Mutation_p.R204P|SORL1_ENST00000534286.1_Missense_Mutation_p.R170P|SORL1_ENST00000532694.1_Missense_Mutation_p.R106P NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1260 LDL-receptor class A 5. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GATGGTCTGCGTGATTGCTCT 0.483000 13 117 0 0 0.002450 0 0 MNDA 4332 broad.mit.edu 37 1 158811981 158811981 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:158811981G>A ENST00000368141.4 + 2 299 c.38G>A c.(37-39)gGa>gAa p.G13E MNDA_ENST00000491210.1_3'UTR NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 13 DAPIN. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) TTGCTGAAAGGATTTGAGCTC 0.318000 12 29 0 0 0.010729 0 0 MS4A10 341116 broad.mit.edu 37 11 60559775 60559775 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:60559775C>T ENST00000308287.1 + 4 437 c.341C>T c.(340-342)aCc>aTc p.T114I NM_206893.3 NP_996776.2 Q96PG2 M4A10_HUMAN membrane-spanning 4-domains, subfamily A, member 10 114 integral to membrane receptor activity endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2) 21 ACAATGAAGACCTTTTCTAAA 0.443000 36 97 0 0 0.009718 0 0 ADRA2B 151 broad.mit.edu 37 2 96781379 96781379 + Silent SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:96781379G>T ENST00000409345.3 - 1 605 c.510C>A c.(508-510)gcC>gcA p.A170A NM_000682.5 NP_000673.2 P18089 ADA2B_HUMAN adrenoceptor alpha 2B 170 activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding endometrium(2)|large_intestine(2)|lung(9)|ovary(3) 16 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) GGATGTACCAGGCCTCCTGGT 0.632000 10 29 3.07112e-06 3.3368e-06 0.010729 1 0 NEBL 10529 broad.mit.edu 37 10 21178817 21178817 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:21178817G>A ENST00000377122.4 - 3 611 c.215C>T c.(214-216)cCt>cTt p.P72L NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.P72L NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 72 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GTTTAGCATAGGACTGTCAGT 0.303000 11 32 0 0 0.001855 0 0 GPR148 344561 broad.mit.edu 37 2 131487355 131487355 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:131487355C>T ENST00000309926.4 + 1 713 c.631C>T c.(631-633)Ccg>Tcg p.P211S NM_207364.2 NP_997247.2 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 211 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) GGGCACCCAGCCGGGATGTGG 0.542000 18 59 0 0 0.006122 0 0 PRICKLE4 29964 broad.mit.edu 37 6 41752781 41752781 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:41752781C>T ENST00000359201.5 + 4 938 c.349C>T c.(349-351)Ccc>Tcc p.P117S PRICKLE4_ENST00000463606.1_3'UTR|PRICKLE4_ENST00000394260.1_Missense_Mutation_p.P77S|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.P117S|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.P117S|PRICKLE4_ENST00000394259.1_Missense_Mutation_p.P77S Q2TBC4 PRIC4_HUMAN prickle homolog 4 (Drosophila) 77 LIM zinc-binding 1. nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 13 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CCTGGTACTTCCCAAGCTTGA 0.612000 11 77 0 0 0.010729 0 0 UBL4B 164153 broad.mit.edu 37 1 110655500 110655500 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:110655500G>A ENST00000334179.3 + 1 439 c.344G>A c.(343-345)aGg>aAg p.R115K NM_203412.1 NP_981957.1 Q8N7F7 UBL4B_HUMAN ubiquitin-like 4B 115 cytoplasm endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 7 all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134) CAGCTGCTAAGGCAGGAGCAC 0.637000 6 31 0 0 0.001984 0 0 MYPN 84665 broad.mit.edu 37 10 69934371 69934371 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:69934371C>T ENST00000358913.5 + 11 3010 c.2522C>T c.(2521-2523)cCa>cTa p.P841L MYPN_ENST00000354393.2_Missense_Mutation_p.P566L|MYPN_ENST00000540630.1_Missense_Mutation_p.P841L NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 841 Pro-rich. 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 CCTGCCATCCCACCCACAAAT 0.522000 13 26 0 0 0.003163 0 0 GABBR1 2550 broad.mit.edu 37 6 29571449 29571449 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:29571449C>T ENST00000377034.4 - 23 3092 c.2757G>A c.(2755-2757)cgG>cgA p.R919R GABBR1_ENST00000377016.4_Silent_p.R857R|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000355973.3_Silent_p.R802R|GABBR1_ENST00000377012.4_Silent_p.R802R NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 919 Missing (in Ref. 7; CAA09031). gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) GGAGCTGCTGCCGAGACTGGA 0.632000 8 13 0 0 0.003080 0 0 MUC16 94025 broad.mit.edu 37 19 9089120 9089120 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9089120G>A ENST00000397910.4 - 1 2898 c.2695C>T c.(2695-2697)Ccc>Tcc p.P899S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 899 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 TCCATGGTGGGGAATACTGGG 0.512000 3 18 0 0 0.004672 0 0 TTN 7273 broad.mit.edu 37 2 179595718 179595718 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179595718C>T ENST00000589042.1 - 60 17898 c.17674G>A c.(17674-17676)Gaa>Aaa p.E5892K TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E4648K|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E5575K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5575 Ig-like 40. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E4648*(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) AAAGTATATTCTCCACTATCT 0.393000 68 106 0 0 0.014410 0 0 DNAH9 1770 broad.mit.edu 37 17 11584087 11584087 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:11584087G>A ENST00000262442.3 + 19 3692 c.3624G>A c.(3622-3624)gtG>gtA p.V1208V DNAH9_ENST00000454412.2_Silent_p.V1208V NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1208 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) CCATTACTGTGAAGCAGCAGG 0.527000 8 11 0 0 0.006214 0 0 CATSPERB 79820 broad.mit.edu 37 14 92136311 92136311 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:92136311C>T ENST00000256343.3 - 14 1290 c.1134G>A c.(1132-1134)agG>agA p.R378R NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 378 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) TGGCAGTTTTCCTGACCTAGG 0.363000 26 36 0 0 0.005443 0 0 HECTD4 283450 broad.mit.edu 37 12 112645736 112645736 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:112645736G>A ENST00000550722.1 - 52 8030 c.7635C>T c.(7633-7635)ttC>ttT p.F2545F HECTD4_ENST00000430131.2_Silent_p.F2269F|HECTD4_ENST00000377560.5_Silent_p.F2519F NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 CTTCATTGCGGAAGCGTCTTC 0.507000 14 9 0 0 0.003163 0 0 C7orf63 79846 broad.mit.edu 37 7 89938629 89938629 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:89938629G>A ENST00000389297.4 + 22 2854 c.2603G>A c.(2602-2604)cGa>cAa p.R868Q C7orf63_ENST00000316089.8_Missense_Mutation_p.R822Q|C7orf63_ENST00000497910.1_Missense_Mutation_p.R850Q NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN chromosome 7 open reading frame 63 868 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 TACCATAAACGACCACAAAAT 0.294000 35 70 0 0 0.006999 0 0 OR14K1 343170 broad.mit.edu 37 1 247902152 247902152 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:247902152C>T ENST00000283225.2 + 1 236 c.236C>T c.(235-237)tCc>tTc p.S79F RP11-634B7.4_ENST00000449298.1_RNA olfactory receptor, family 14, subfamily K, member 1 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1) 27 GTCCCCAAATCCATCCTCAAC 0.507000 22 44 0 0 0.012319 0 0 CSMD2 114784 broad.mit.edu 37 1 34189909 34189909 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:34189909G>A ENST00000373381.4 - 19 3065 c.2889C>T c.(2887-2889)ctC>ctT p.L963L NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 923 CUB 6. 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) AGCCACCACAGAGAGCTACAG 0.562000 4 28 0 0 0.009096 0 0 DYTN 391475 broad.mit.edu 37 2 207572096 207572096 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:207572096C>T ENST00000452335.2 - 3 342 c.226G>A c.(226-228)Gaa>Aaa p.E76K NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 76 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) CCTGGGTTTTCCTCCCTGGCC 0.557000 5 17 0 0 0.000602 0 0 NMUR2 56923 broad.mit.edu 37 5 151784264 151784264 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:151784264G>A ENST00000255262.3 - 1 576 c.411C>T c.(409-411)atC>atT p.I137I NMUR2_ENST00000518933.1_Intron NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 137 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) TGACGGTGGTGATGCTGAGGA 0.627000 15 44 0 0 0.002450 0 0 ZNF8 7554 broad.mit.edu 37 19 58797124 58797124 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:58797124G>A ENST00000196548.5 + 2 239 c.108G>A c.(106-108)caG>caA p.Q36Q CTD-3138B18.4_ENST00000600029.1_3'UTR|AC010642.1_ENST00000591325.1_3'UTR NM_021089.2 NP_066575.2 P17098 ZNF8_HUMAN zinc finger protein 8 36 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 19 all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619) ACTTTACCCAGGAGGAATGGG 0.547000 44 68 0 0 0.013114 0 0 RB1CC1 9821 broad.mit.edu 37 8 53586631 53586631 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:53586631G>A ENST00000025008.5 - 7 1299 c.776C>T c.(775-777)cCc>cTc p.P259L RB1CC1_ENST00000435644.2_Missense_Mutation_p.P259L|RB1CC1_ENST00000539297.1_Missense_Mutation_p.P259L|RB1CC1_ENST00000521611.1_Intron NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 259 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) CACTGACTTGGGAAATGAGGT 0.418000 31 130 0 0 0.010818 0 0 KIRREL2 84063 broad.mit.edu 37 19 36357193 36357193 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:36357193C>T ENST00000360202.5 + 15 2124 c.1926C>T c.(1924-1926)ttC>ttT p.F642F KIRREL2_ENST00000262625.7_Intron|KIRREL2_ENST00000586102.2_Silent_p.F622F|KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000592409.1_Silent_p.F607F|NPHS1_ENST00000591817.1_Intron NM_032123.5|NM_199180.2 NP_115499.4|NP_954649.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) 642 Pro-rich. cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCTATGACTTCAACCCACACC 0.617000 18 44 0 0 0.004990 0 0 MB21D1 115004 broad.mit.edu 37 6 74135297 74135297 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:74135297C>T ENST00000370315.3 - 5 1316 c.1222G>A c.(1222-1224)Gat>Aat p.D408N MB21D1_ENST00000370318.1_Missense_Mutation_p.D408N NM_138441.2 NP_612450.2 Q8N884 M21D1_HUMAN Mab-21 domain containing 1 408 central_nervous_system(1)|large_intestine(4)|lung(1) 6 TTTAAACAATCTTTCCTGTTG 0.259000 7 7 0 0 0.001984 0 0 ZP2 7783 broad.mit.edu 37 16 21222689 21222689 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:21222689G>A ENST00000574002.1 - 3 572 c.90C>T c.(88-90)ttC>ttT p.F30F ZP2_ENST00000219593.4_Silent_p.F30F|ZP2_ENST00000574091.1_Silent_p.F30F Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 30 binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) TCACAAGGGCGAAGAAGAGAG 0.463000 27 51 0 0 0.008361 0 0 ZZEF1 23140 broad.mit.edu 37 17 3977637 3977637 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:3977637G>A ENST00000381638.2 - 24 3616 c.3492C>T c.(3490-3492)acC>acT p.T1164T NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 1164 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 CGGCCTTGAAGGTCACTTTCT 0.488000 OREG0024096 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 26 0 0 0.010818 0 0 C6orf25 80739 broad.mit.edu 37 6 31692639 31692639 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:31692639G>A ENST00000480039.1 + 5 679 c.639G>A c.(637-639)tgG>tgA p.W213* C6orf25_ENST00000375810.4_Missense_Mutation_p.G220R|C6orf25_ENST00000375805.2_Intron|C6orf25_ENST00000375809.3_Intron O95866 G6B_HUMAN chromosome 6 open reading frame 25 0 endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 9 CATGGGGATGGGAAGGGGATA 0.532000 75 157 0 0 0.014410 0 0 MUC17 140453 broad.mit.edu 37 7 100686978 100686978 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:100686978C>T ENST00000306151.4 + 3 12345 c.12281C>T c.(12280-12282)aCc>aTc p.T4094I NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4094 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) ACCATGACCACCAGGACAAAA 0.562000 19 37 0 0 0.012319 0 0 CSMD3 114788 broad.mit.edu 37 8 113841934 113841934 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:113841934G>A ENST00000297405.5 - 12 2084 c.1840C>T c.(1840-1842)Cct>Tct p.P614S CSMD3_ENST00000455883.2_Missense_Mutation_p.P510S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P614S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P574S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 614 CUB 3. 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 ACTGTCCTAGGATCTCCAACT 0.368000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 8 25 0 0 0.006214 0 0 CRYGN 155051 broad.mit.edu 37 7 151135258 151135258 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:151135258C>T ENST00000337323.2 - 2 220 c.94G>A c.(94-96)Gac>Aac p.D32N CRYGN_ENST00000476631.1_5'UTR|RP4-555L14.4_ENST00000465549.1_RNA NM_144727.1 NP_653328.1 Q8WXF5 CRGN_HUMAN crystallin, gamma N 32 Beta/gamma crystallin 'Greek key' 1. central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4) 8 OV - Ovarian serous cystadenocarcinoma(82;0.00358) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AAGCCCCGGTCCTGGAAGTTG 0.562000 12 43 0 0 0.001855 0 0 HEATR4 399671 broad.mit.edu 37 14 73976137 73976137 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:73976137G>A ENST00000553558.1 - 8 1920 c.1599C>T c.(1597-1599)gcC>gcT p.A533A HEATR4_ENST00000334988.2_Silent_p.A533A|HEATR4_ENST00000560393.1_Silent_p.A486A NM_001220484.1 NP_001207413.1 HEAT repeat containing 4 breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) CAGCCTCTAGGGCAGGCAGTA 0.507000 12 60 0 0 0.003163 0 0 CTNNA2 1496 broad.mit.edu 37 2 80874853 80874853 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:80874853G>A ENST00000466387.1 + 22 3298 c.2574G>A c.(2572-2574)tgG>tgA p.W858* CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.W858*|CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.W813*|CTNNA2_ENST00000343114.3_Nonsense_Mutation_p.W537*|CTNNA2_ENST00000402739.4_Nonsense_Mutation_p.W906*|CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.W892*|CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.W858* P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 906 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 TTGTGTCTTGGAAGATGAAGG 0.483000 54 86 0 0 0.014410 0 0 PCLO 27445 broad.mit.edu 37 7 82544526 82544526 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:82544526G>A ENST00000423517.2 - 7 13113 c.12776C>T c.(12775-12777)tCt>tTt p.S4259F PCLO_ENST00000437081.1_Missense_Mutation_p.S979F|PCLO_ENST00000333891.8_Missense_Mutation_p.S4259F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4190 Ser-rich. 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 TGTGCCAAGAGAAGATCCCAT 0.468000 7 7 0 0 0.001984 0 0 MAGEC2 51438 broad.mit.edu 37 X 141290979 141290979 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:141290979G>A ENST00000247452.3 - 3 1142 c.795C>T c.(793-795)ttC>ttT p.F265F NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 265 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) CCCCATAGACGAAGTGCTCCC 0.507000 HNSCC(46;0.14) 46 14 0 0 0.014410 0 0 OR2B3 442184 broad.mit.edu 37 6 29054925 29054925 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:29054925G>A ENST00000377173.2 - 1 165 c.101C>T c.(100-102)tCa>tTa p.S34L NM_001005226.2 NP_001005226.1 olfactory receptor, family 2, subfamily B, member 3 breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2) 24 GATTGTGTATGATATTAACAG 0.408000 18 41 0 0 0.012319 0 0 KIAA0754 643314 broad.mit.edu 37 1 39878858 39878858 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:39878858C>T ENST00000530275.1 + 1 2708 c.2513C>T c.(2512-2514)cCt>cTt p.P838L MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 838 Ala-rich. central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCAGAAGGGCCTGTCACCCCA 0.592000 4 10 0 0 0.009096 0 0 TMEM2 23670 broad.mit.edu 37 9 74345064 74345064 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:74345064G>A ENST00000377044.4 - 9 2418 c.1879C>T c.(1879-1881)Ccg>Tcg p.P627S TMEM2_ENST00000377066.5_Missense_Mutation_p.P564S NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 627 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) AGAGTACCCGGCTTGGTGAGG 0.453000 25 29 0 0 0.004656 0 0 COL9A1 1297 broad.mit.edu 37 6 71004099 71004099 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:71004099G>A ENST00000357250.6 - 5 625 c.467C>T c.(466-468)tCa>tTa p.S156L COL9A1_ENST00000370496.3_Missense_Mutation_p.S156L NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 156 Nonhelical region (NC4).|TSP N-terminal. axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 TCCCTTGTATGAAAATACAAC 0.433000 37 52 0 0 0.005524 0 0 KIAA1407 57577 broad.mit.edu 37 3 113772443 113772443 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:113772443C>T ENST00000295878.3 - 2 276 c.e2+1 KIAA1407_ENST00000545063.1_Intron|KIAA1407_ENST00000480588.1_Splice_Site NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 AATATCCTTACCTTTATCCAG 0.323000 3 17 0 0 0.009096 0 0 SYNE1 23345 broad.mit.edu 37 6 152804247 152804247 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:152804247C>T ENST00000367255.5 - 14 1924 c.1323G>A c.(1321-1323)acG>acA p.T441T SYNE1_ENST00000341594.5_Silent_p.T441T|SYNE1_ENST00000367253.4_Silent_p.T441T|SYNE1_ENST00000413186.2_Silent_p.T441T|SYNE1_ENST00000448038.1_Silent_p.T448T|SYNE1_ENST00000367248.3_Silent_p.T431T|SYNE1_ENST00000423061.1_Silent_p.T448T|SYNE1_ENST00000265368.4_Silent_p.T441T|SYNE1_ENST00000466159.2_Silent_p.T441T NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 441 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCCGTTGTATCGTGTTTGCTG 0.502000 HNSCC(10;0.0054) 60 162 0 0 0.014410 0 0 COL5A2 1290 broad.mit.edu 37 2 189904202 189904202 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:189904202C>T ENST00000374866.3 - 51 3995 c.3721G>A c.(3721-3723)Gat>Aat p.D1241N NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 1241 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent p.D1241N(1) 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) ATGCTTTCATCATAGTGCCCC 0.547000 7 24 0 0 0.001984 0 0 GFRA2 2675 broad.mit.edu 37 8 21560429 21560429 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:21560429G>A ENST00000524240.1 - 7 1756 c.1106C>T c.(1105-1107)tCg>tTg p.S369L GFRA2_ENST00000518077.1_Missense_Mutation_p.S236L|GFRA2_ENST00000517328.1_Missense_Mutation_p.S369L|GFRA2_ENST00000400782.4_Missense_Mutation_p.S264L NM_001495.4 NP_001486.4 O00451 GFRA2_HUMAN GDNF family receptor alpha 2 369 anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1) 7 Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727) GGCCTGGAACGAGGGGCCTTT 0.617000 5 10 0 0 0.001168 0 0 KIAA2022 340533 broad.mit.edu 37 X 73963780 73963780 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:73963780G>A ENST00000373468.1 - 3 1263 c.612C>T c.(610-612)ctC>ctT p.L204L KIAA2022_ENST00000055682.5_Silent_p.L204L Q5QGS0 K2022_HUMAN KIAA2022 204 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 GGAAGCCTAGGAGCTGGTCTG 0.458000 24 14 0 0 0.014323 0 0 CASQ2 845 broad.mit.edu 37 1 116311110 116311110 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:116311110C>T ENST00000261448.5 - 1 292 c.53G>A c.(52-54)aGg>aAg p.R18K CASQ2_ENST00000456138.2_Missense_Mutation_p.R18K NM_001232.3 NP_001223.2 O14958 CASQ2_HUMAN calsequestrin 2 (cardiac muscle) 18 heart development|striated muscle contraction sarcoplasmic reticulum lumen calcium ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 18 Lung SC(450;0.211) all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) CTCTTCTGCCCTGCAAGAGGA 0.408000 20 27 0 0 0.007413 0 0 TRANK1 9881 broad.mit.edu 37 3 36874636 36874636 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:36874636C>T ENST00000429976.2 - 21 6553 c.6306G>A c.(6304-6306)ttG>ttA p.L2102L TRANK1_ENST00000428977.2_Silent_p.L1552L|TRANK1_ENST00000301807.6_Silent_p.L1552L O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2102 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 CTCTCAAGTTCAAATCCAGGT 0.393000 9 12 0 0 0.006214 0 0 SLC38A1 81539 broad.mit.edu 37 12 46622947 46622947 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:46622947G>A ENST00000398637.5 - 5 997 c.303C>T c.(301-303)atC>atT p.I101I SLC38A1_ENST00000549049.1_Silent_p.I101I|SLC38A1_ENST00000546893.1_Silent_p.I101I|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Silent_p.I101I|SLC38A1_ENST00000552197.1_Silent_p.I101I NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3 NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3 Q9H2H9 S38A1_HUMAN solute carrier family 38, member 1 101 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) GAAAAAGTAGGATTCCAGTGT 0.393000 7 6 0 0 0.003080 0 0 SCN11A 11280 broad.mit.edu 37 3 38889091 38889091 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:38889091C>T ENST00000450244.1 - 26 4668 c.4470G>A c.(4468-4470)ctG>ctA p.L1490L SCN11A_ENST00000302328.3_Silent_p.L1490L|SCN11A_ENST00000456224.3_Silent_p.L1452L Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1490 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GCGACATCATCAGAGCAAAGA 0.483000 14 25 0 0 0.002450 0 0 CYSLTR1 10800 broad.mit.edu 37 X 77528719 77528719 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:77528719C>T ENST00000373304.3 - 3 817 c.525G>A c.(523-525)gaG>gaA p.E175E NM_006639.2 NP_006630.1 Q9Y271 CLTR1_HUMAN cysteinyl leukotriene receptor 1 175 elevation of cytosolic calcium ion concentration|respiratory gaseous exchange integral to plasma membrane|membrane fraction leukotriene receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549) CTTGTGGGGGCTCAAAGCACT 0.338000 14 12 0 0 0.002450 0 0 TTN 7273 broad.mit.edu 37 2 179403727 179403727 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179403727C>T ENST00000589042.1 - 353 99159 c.98935G>A c.(98935-98937)Ggc>Agc p.G32979S TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G23914S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G24039S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G30411S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G24106S|TTN_ENST00000591111.1_Missense_Mutation_p.G31338S|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31338 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) TCACTCAGGCCAACATCATTC 0.463000 10 27 0 0 0.010729 0 0 DDX58 23586 broad.mit.edu 37 9 32477025 32477025 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:32477025C>T ENST00000379882.1 - 12 1901 c.1744G>A c.(1744-1746)Gag>Aag p.E582K DDX58_ENST00000542096.1_Missense_Mutation_p.E556K|DDX58_ENST00000545044.1_Missense_Mutation_p.E424K|DDX58_ENST00000379868.1_Missense_Mutation_p.E424K|DDX58_ENST00000379883.2_Missense_Mutation_p.E627K O95786 DDX58_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 627 detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;0.00056) GTTATTGTCTCTGGGTTTAAG 0.403000 12 45 0 0 0.010729 0 0 ATXN7L2 127002 broad.mit.edu 37 1 110029767 110029767 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:110029767C>T ENST00000369870.3 + 4 452 c.437C>T c.(436-438)tCc>tTc p.S146F NM_153340.4 NP_699171.3 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 146 breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1) 17 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) AAAACCTCCTCCAGGGAGAAG 0.617000 127 260 0 0 0.014410 0 0 TRANK1 9881 broad.mit.edu 37 3 36893771 36893771 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:36893771G>A ENST00000429976.2 - 13 4730 c.4483C>T c.(4483-4485)Cgc>Tgc p.R1495C TRANK1_ENST00000428977.2_Missense_Mutation_p.R945C|TRANK1_ENST00000301807.6_Missense_Mutation_p.R945C O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1495 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 CTTGGAAGGCGATCAAAAGAT 0.428000 6 11 0 0 0.001168 0 0 SLITRK4 139065 broad.mit.edu 37 X 142716674 142716674 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:142716674G>A ENST00000381779.4 - 2 2476 c.2251C>T c.(2251-2253)Cct>Tct p.P751S SLITRK4_ENST00000356928.1_Missense_Mutation_p.P751S|SLITRK4_ENST00000338017.4_Missense_Mutation_p.P751S NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 751 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) TCCCTGCTAGGGAATAATTCA 0.383000 15 44 0 0 0.003163 0 0 AKAP8L 26993 broad.mit.edu 37 19 15512189 15512189 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:15512189G>A ENST00000397410.4 - 5 652 c.588C>T c.(586-588)ggC>ggT p.G196G AKAP8L_ENST00000595136.1_Intron|AKAP8L_ENST00000595465.1_Silent_p.G135G NM_014371.2 NP_055186.2 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like 196 cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 TGCGCCCATAGCCTGAGGCCA 0.687000 20 36 0 0 0.008871 0 0 MYLK3 91807 broad.mit.edu 37 16 46781992 46781992 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:46781992C>T ENST00000394809.4 - 1 229 c.114G>A c.(112-114)caG>caA p.Q38Q MYLK3_ENST00000536476.1_Intron NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 38 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) AGTGCAGGAGCTGGTCCACCT 0.602000 31 44 0 0 0.013726 0 0 LPAR1 1902 broad.mit.edu 37 9 113734378 113734378 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:113734378G>A ENST00000374431.3 - 3 403 c.20C>T c.(19-21)tCc>tTc p.S7F LPAR1_ENST00000541779.1_Intron|LPAR1_ENST00000374430.2_Missense_Mutation_p.S7F|LPAR1_ENST00000538760.1_Intron|LPAR1_ENST00000358883.4_Missense_Mutation_p.S7F NM_057159.2 NP_476500.1 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 7 positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1) 21 TACAGGGATGGAAGTAGAGAT 0.458000 25 101 0 0 0.007291 0 0 PSMD2 5708 broad.mit.edu 37 3 184019347 184019347 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:184019347C>T ENST00000310118.4 + 4 938 c.380C>T c.(379-381)tCc>tTc p.S127F EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_5'UTR|PSMD2_ENST00000435761.1_5'UTR|PSMD2_ENST00000459910.1_3'UTR NM_002808.3 NP_002799.3 Q13200 PSMD2_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 127 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2) 27 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) GACATCATCTCCGTTTTGGCC 0.488000 32 57 0 0 0.008361 0 0 ZNF425 155054 broad.mit.edu 37 7 148801241 148801241 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:148801241C>T ENST00000378061.2 - 4 1854 c.1722G>A c.(1720-1722)cgG>cgA p.R574R NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 574 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CCCTGTGCATCCGCTGGTGGA 0.597000 8 28 0 0 0.006214 0 0 VGLL1 51442 broad.mit.edu 37 X 135618372 135618372 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:135618372G>A ENST00000370634.3 + 2 363 c.193G>A c.(193-195)Gaa>Aaa p.E65K NM_016267.3 NP_057351.1 Q99990 VGLL1_HUMAN vestigial like 1 (Drosophila) 65 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus transcription coactivator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;0.000127) GAGTCAGAGTGAAGGTGTGAT 0.527000 33 13 0 0 0.006999 0 0 ASXL3 80816 broad.mit.edu 37 18 31325889 31325889 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:31325889C>T ENST00000269197.5 + 12 6077 c.6077C>T c.(6076-6078)cCt>cTt p.P2026L NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 2026 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ccccctccccctccacccttg 0.587000 3 3 0 0 0.004672 0 0 SYNE1 23345 broad.mit.edu 37 6 152779912 152779912 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:152779912G>A ENST00000367255.5 - 22 3149 c.2548C>T c.(2548-2550)Ctt>Ttt p.L850F SYNE1_ENST00000341594.5_Missense_Mutation_p.L857F|SYNE1_ENST00000367253.4_Missense_Mutation_p.L850F|SYNE1_ENST00000413186.2_Missense_Mutation_p.L850F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L857F|SYNE1_ENST00000495090.2_Missense_Mutation_p.L417F|SYNE1_ENST00000367248.3_Missense_Mutation_p.L840F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L857F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L850F NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 850 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGTTTAAAAAGGGCACTCGAT 0.383000 HNSCC(10;0.0054) 19 38 0 0 0.014323 0 0 NRP1 8829 broad.mit.edu 37 10 33502411 33502411 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:33502411C>T ENST00000265371.4 - 10 2042 c.1517G>A c.(1516-1518)cGa>cAa p.R506Q NRP1_ENST00000374823.5_Missense_Mutation_p.R506Q|NRP1_ENST00000374822.4_Missense_Mutation_p.R506Q|NRP1_ENST00000395995.1_Missense_Mutation_p.R506Q|NRP1_ENST00000466932.1_5'UTR|NRP1_ENST00000374867.2_Missense_Mutation_p.R506Q|NRP1_ENST00000374816.3_Missense_Mutation_p.R506Q|NRP1_ENST00000374821.5_Missense_Mutation_p.R506Q|RP11-342D11.2_ENST00000451530.1_RNA O14786 NRP1_HUMAN neuropilin 1 506 F5/8 type C 2. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) CTTGTTCTCTCGGTGCTTCCC 0.527000 22 70 0 0 0.014323 0 0 NALCN 259232 broad.mit.edu 37 13 101742293 101742293 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:101742293G>A ENST00000251127.6 - 29 3375 c.3294C>T c.(3292-3294)ttC>ttT p.F1098F NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1098 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) CCACATTGTCGAAATTAAAGT 0.463000 29 166 0 0 0.010818 0 0 SMURF2 64750 broad.mit.edu 37 17 62557655 62557655 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:62557655G>A ENST00000262435.9 - 12 1466 c.1279C>T c.(1279-1281)Cgt>Tgt p.R427C SMURF2_ENST00000578200.1_5'UTR NM_022739.3 NP_073576.1 Q9HAU4 SMUF2_HUMAN SMAD specific E3 ubiquitin protein ligase 2 427 HECT. BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex identical protein binding|SMAD binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4) 22 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;9.88e-12) TCTTCTCCACGAAATTTTATC 0.363000 14 11 0 0 0.004007 0 0 PEG3 5178 broad.mit.edu 37 19 57328787 57328787 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:57328787G>A ENST00000326441.9 - 10 1386 c.1023C>T c.(1021-1023)ttC>ttT p.F341F ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.F341F|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Silent_p.F215F|PEG3_ENST00000598410.1_Silent_p.F217F|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 341 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) ACATTCTGGGGAATCTCTGTG 0.473000 7 47 0 0 0.001984 0 0 C8orf34 116328 broad.mit.edu 37 8 69351846 69351846 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:69351846G>A ENST00000337103.4 + 1 1699 c.107G>A c.(106-108)gGa>gAa p.G36E C8orf34_ENST00000348340.2_Missense_Mutation_p.G61E|C8orf34_ENST00000539993.1_Missense_Mutation_p.G61E|C8orf34_ENST00000518698.1_Missense_Mutation_p.G147E|C8orf34_ENST00000523686.1_Missense_Mutation_p.G61E|C8orf34_ENST00000349492.3_3'UTR Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 61 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) ACTTTGTCTGGATCTGCAGCT 0.373000 19 20 0 0 0.007413 0 0 COL4A6 1288 broad.mit.edu 37 X 107438355 107438355 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:107438355C>T ENST00000334504.7 - 15 1138 c.903_splice c.e15-1 p.G302_splice COL4A6_ENST00000372216.4_Splice_Site_p.G303_splice|COL4A6_ENST00000545689.1_Splice_Site_p.G302_splice|COL4A6_ENST00000394872.2_Intron|COL4A6_ENST00000538570.1_Splice_Site_p.G302_splice NM_033641.2 NP_378667.1 Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 303 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 ACCCATGGGACCCTGTAAAGA 0.403000 Alport syndrome with Diffuse Leiomyomatosis 38 18 0 0 0.009718 0 0 TTN 7273 broad.mit.edu 37 2 179439256 179439256 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179439256C>T ENST00000589042.1 - 326 71827 c.71603G>A c.(71602-71604)cGa>cAa p.R23868Q TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R14803Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R14928Q|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R21300Q|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R14995Q|TTN_ENST00000591111.1_Missense_Mutation_p.R22227Q|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22227 Ig-like 120. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R14803Q(1)|p.R21298Q(1)|p.R14928Q(1)|p.R14995Q(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) AATACCATTTCGTTCTTTTCT 0.418000 36 111 0 0 0.003755 0 0 CACNA1G 8913 broad.mit.edu 37 17 48697080 48697080 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:48697080C>T ENST00000354983.4 + 32 6088 c.5716C>T c.(5716-5718)Cag>Tag p.Q1906* CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000515411.1_Nonsense_Mutation_p.Q1922*|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000507336.1_Nonsense_Mutation_p.Q1929*|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000359106.5_Nonsense_Mutation_p.Q1940*|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000515765.1_Nonsense_Mutation_p.Q1929*|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000510115.1_Nonsense_Mutation_p.Q1906*|CACNA1G_ENST00000507510.2_Nonsense_Mutation_p.Q1940*|CACNA1G_ENST00000513689.2_Nonsense_Mutation_p.Q1895*|CACNA1G_ENST00000505165.1_Intron NM_198396.2 NP_938406.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1940 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) CCTGCTGATCCAGGGCTCCCT 0.672000 12 7 0 0 0.013537 0 0 CD1E 913 broad.mit.edu 37 1 158326570 158326570 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:158326570G>A ENST00000444681.2 + 5 1047 c.754G>A c.(754-756)Gga>Aga p.G252R CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368166.3_Missense_Mutation_p.G150R|CD1E_ENST00000368154.1_Missense_Mutation_p.G107R|CD1E_ENST00000368155.3_Missense_Mutation_p.G194R|CD1E_ENST00000368165.3_Missense_Mutation_p.G261R|CD1E_ENST00000368156.1_Missense_Mutation_p.G249R|CD1E_ENST00000368163.3_Missense_Mutation_p.G284R|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368160.3_Missense_Mutation_p.G339R|CD1E_ENST00000368157.1_Missense_Mutation_p.G95R|CD1E_ENST00000368167.3_Missense_Mutation_p.G351R|CD1E_ENST00000452291.2_Missense_Mutation_p.G162R NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 351 Ig-like. antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) CTTTCTCATGGGAGCCAACAC 0.433000 24 40 0 0 0.014323 0 0 LARGE 9215 broad.mit.edu 37 22 34046368 34046368 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:34046368G>A ENST00000354992.2 - 4 964 c.393C>T c.(391-393)gtC>gtT p.V131V LARGE_ENST00000402320.1_Silent_p.V131V|LARGE_ENST00000437602.2_Silent_p.V131V|LARGE_ENST00000462606.1_5'UTR|LARGE_ENST00000397394.2_Silent_p.V131V|LARGE_ENST00000337431.2_Silent_p.V131V NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 131 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) ATTTCTCCACGACCGGCTGCT 0.597000 18 76 0 0 0.010504 0 0 HAS2 3037 broad.mit.edu 37 8 122626715 122626715 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:122626715G>A ENST00000303924.4 - 4 1830 c.1293C>T c.(1291-1293)atC>atT p.I431I NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 431 integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) AGACCATGACGATATTTCCTC 0.423000 30 82 0 0 0.009535 0 0 IFNA14 3448 broad.mit.edu 37 9 21239574 21239574 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:21239574C>T ENST00000380222.2 - 1 404 c.361G>A c.(361-363)Gcc>Acc p.A121T NM_002172.2 NP_002163.2 P01570 IFN14_HUMAN interferon, alpha 14 121 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7) 11 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) ATCACACAGGCTTCCAGGTCA 0.443000 68 97 0 0 0.014410 0 0 DNAH8 1769 broad.mit.edu 37 6 38875751 38875751 + Missense_Mutation SNP G G A rs146541069 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:38875751G>A ENST00000359357.3 + 62 8971 c.8717G>A c.(8716-8718)cGa>cAa p.R2906Q DNAH8_ENST00000441566.1_Missense_Mutation_p.R2870Q|DNAH8_ENST00000449981.2_Missense_Mutation_p.R3123Q 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 TTGTTTGCACGAGATGAGATG 0.413000 27 39 0 0 0.007291 0 0 INTS4 92105 broad.mit.edu 37 11 77594889 77594889 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:77594889G>A ENST00000534064.1 - 22 2736 c.2702C>T c.(2701-2703)aCc>aTc p.T901I AAMDC_ENST00000304716.8_Intron|AAMDC_ENST00000532481.1_Intron|AAMDC_ENST00000527134.1_Intron|INTS4_ENST00000535943.1_Missense_Mutation_p.T276I NM_033547.3 NP_291025.3 Q96HW7 INT4_HUMAN integrator complex subunit 4 901 HT -> PP (in Ref. 1; AAQ13616). snRNA processing integrator complex protein binding INTS4/GAB2(2) NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1) 32 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) TGTCCAAGCGGTGTGGGAGAG 0.532000 8 8 0 0 0.004482 0 0 GPR39 2863 broad.mit.edu 37 2 133174768 133174768 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:133174768C>T ENST00000329321.3 + 1 622 c.153C>T c.(151-153)acC>acT p.T51T NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 51 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 ACAGCGCCACCATTCGGGTCA 0.532000 17 42 0 0 0.004990 0 0 CNTN3 5067 broad.mit.edu 37 3 74383952 74383952 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:74383952G>A ENST00000263665.6 - 12 1629 c.1602C>T c.(1600-1602)acC>acT p.T534T NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 534 Ig-like C2-type 6. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TGAAATACCAGGTAAAGATGA 0.418000 21 31 0 0 0.008871 0 0 FMN1 342184 broad.mit.edu 37 15 33359009 33359009 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:33359009C>T ENST00000334528.9 - 1 1076 c.1077G>A c.(1075-1077)aaG>aaA p.K359K FMN1_ENST00000559150.1_Intron|FMN1_ENST00000558197.1_Silent_p.K359K|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559047.1_Intron NM_001103184.2 NP_001096654.1 Q68DA7 FMN1_HUMAN formin 1 453 Microtubule-binding (By similarity). actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) GGTCTGCTCCCTTCGGTTCAG 0.567000 32 59 0 0 0.003755 0 0 HRNR 388697 broad.mit.edu 37 1 152187486 152187486 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:152187486G>A ENST00000368801.2 - 3 6694 c.6619C>T c.(6619-6621)Cgt>Tgt p.R2207C FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2207 keratinization calcium ion binding|protein binding p.R2207C(1) 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) CTGGAAGAACGACCTGAGCCA 0.602000 33 444 0 0 0.014410 0 0 FSIP2 401024 broad.mit.edu 37 2 186672268 186672268 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:186672268G>A ENST00000343098.5 + 17 18502 c.18502G>A c.(18502-18504)Gaa>Aaa p.E6168K FSIP2_ENST00000424728.1_Missense_Mutation_p.E6079K NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 TGATGATGATGAAATTATTCA 0.323000 42 60 0 0 0.006999 0 0 YTHDC1 91746 broad.mit.edu 37 4 69185861 69185861 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:69185861G>A ENST00000344157.4 - 12 1999 c.1664C>T c.(1663-1665)cCt>cTt p.P555L YTHDC1_ENST00000355665.3_Missense_Mutation_p.P537L|YTHDC1_ENST00000579690.1_Missense_Mutation_p.P555L NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 555 Arg-rich. NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 GTGAAACTCAGGGGGATAGTC 0.313000 21 14 0 0 0.006320 0 0 PRKCB 5579 broad.mit.edu 37 16 24166058 24166058 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:24166058G>A ENST00000303531.7 + 10 1271 c.1119G>A c.(1117-1119)ctG>ctA p.L373L PRKCB_ENST00000321728.7_Silent_p.L373L NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 373 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) TGAAGATCCTGAAGAAGGACG 0.552000 5 48 0 0 0.001168 0 0 KMO 8564 broad.mit.edu 37 1 241714307 241714307 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:241714307G>A ENST00000366559.4 + 4 586 c.275G>A c.(274-276)gGa>gAa p.G92E KMO_ENST00000366558.3_Missense_Mutation_p.G92E|KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366557.4_Missense_Mutation_p.G92E NM_003679.4 NP_003670.2 O15229 KMO_HUMAN kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) 92 pyridine nucleotide biosynthetic process|response to salt stress cytosol|integral to membrane|mitochondrial outer membrane electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Ovarian(103;0.103)|all_lung(81;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.0176) TCTCTTTCAGGAAAAAAGTCT 0.403000 25 130 0 0 0.007291 0 0 C10orf113 387638 broad.mit.edu 37 10 21435307 21435307 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:21435307G>A ENST00000529198.1 - 1 181 c.131C>T c.(130-132)tCt>tTt p.S44F C10orf113_ENST00000377118.4_Missense_Mutation_p.S34F|NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000534331.1_Missense_Mutation_p.S44F NM_001177483.1 NP_001170954.1 Q5VZT2 CJ113_HUMAN chromosome 10 open reading frame 113 44 endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1) 7 AGCCACACAAGAAAAAAATGA 0.438000 12 30 0 0 0.001855 0 0 CCDC108 255101 broad.mit.edu 37 2 219868948 219868948 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:219868948C>T ENST00000341552.5 - 33 5364 c.5281G>A c.(5281-5283)Gaa>Aaa p.E1761K CCDC108_ENST00000453220.1_Missense_Mutation_p.E1761K|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Missense_Mutation_p.E1761K NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 1761 Glu-rich. integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) tccccctcttccttctTTCCC 0.557000 18 55 0 0 0.010504 0 0 MSR1 4481 broad.mit.edu 37 8 16007775 16007775 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:16007775C>T ENST00000350896.3 - 7 1141 c.944G>A c.(943-945)gGa>gAa p.G315E MSR1_ENST00000262101.5_Missense_Mutation_p.G315E|MSR1_ENST00000445506.2_Missense_Mutation_p.G333E|MSR1_ENST00000536385.1_Missense_Mutation_p.G89E|MSR1_ENST00000355282.2_Missense_Mutation_p.G315E|MSR1_ENST00000381998.4_Missense_Mutation_p.G315E NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 315 Collagen-like. cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) TCCTCGACTTCCAGGAAAGCC 0.368000 19 27 0 0 0.002780 0 0 TEX15 56154 broad.mit.edu 37 8 30699874 30699874 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:30699874C>T ENST00000256246.2 - 1 6734 c.6660G>A c.(6658-6660)agG>agA p.R2220R NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2220 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CTAAATCTTTCCTAGGGGCAG 0.338000 19 59 0 0 0.006122 0 0 NUP188 23511 broad.mit.edu 37 9 131745227 131745227 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:131745227C>T ENST00000372577.2 + 17 1737 c.1716C>T c.(1714-1716)gtC>gtT p.V572V NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 572 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 TTGATCTCGTCCATAAGGTCA 0.507000 40 62 0 0 0.007835 0 0 KCNMA1 3778 broad.mit.edu 37 10 78799304 78799304 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:78799304G>A ENST00000286627.5 - 15 2793 c.1841C>T c.(1840-1842)tCc>tTc p.S614F KCNMA1_ENST00000404857.1_Missense_Mutation_p.S614F|KCNMA1_ENST00000406533.3_Missense_Mutation_p.S614F|KCNMA1_ENST00000372440.1_Missense_Mutation_p.S614F|KCNMA1_ENST00000354353.5_Missense_Mutation_p.S614F|KCNMA1_ENST00000404771.3_Missense_Mutation_p.S614F|KCNMA1_ENST00000286628.8_Missense_Mutation_p.S614F|KCNMA1_ENST00000372443.1_Missense_Mutation_p.S614F NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 614 Segment S8. cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) AGTAGGGAAGGACAGACCCAC 0.458000 3 19 0 0 0.004672 0 0 ZNF454 285676 broad.mit.edu 37 5 178392789 178392789 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:178392789C>T ENST00000320129.3 + 5 1687 c.1384C>T c.(1384-1386)Cat>Tat p.H462Y ZNF454_ENST00000519564.1_Missense_Mutation_p.H462Y NM_001178090.1|NM_182594.2 NP_001171561.1|NP_872400.2 Q8N9F8 ZN454_HUMAN zinc finger protein 454 462 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 46 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) TAAGAGAATTCATACTAGGGA 0.398000 14 44 0 0 0.002450 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43625417 43625417 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:43625417T>C ENST00000332857.6 - 4 3298 c.3270A>G c.(3268-3270)caA>caG p.Q1090Q NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 TGCATGAGCCTTGACAGTTTG 0.502000 79 157 0 0 0.014410 0 0 CHRNB3 1142 broad.mit.edu 37 8 42587688 42587688 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:42587688G>A ENST00000289957.2 + 5 1366 c.1238G>A c.(1237-1239)aGc>aAc p.S413N NM_000749.3 NP_000740.1 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 3 (neuronal) 413 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) CATTTTATCAGCCAGGTGAGT 0.348000 5 29 0 0 0.001984 0 0 OR4M1 441670 broad.mit.edu 37 14 20248730 20248730 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:20248730A>G ENST00000315957.4 + 1 330 c.249A>G c.(247-249)atA>atG p.I83M NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 83 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) AAATGCTCATAGACTTCTTTG 0.448000 49 371 0 0 0.014410 0 0 ZNF564 163050 broad.mit.edu 37 19 12638052 12638052 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:12638052G>A ENST00000339282.7 - 4 1066 c.870C>T c.(868-870)ttC>ttT p.F290F CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron NM_144976.3 NP_659413.1 zinc finger protein 564 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 TGAAAGAAATGAAGGCCTTCC 0.393000 15 42 0 0 0.003163 0 0 CAB39L 81617 broad.mit.edu 37 13 49951247 49951247 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:49951247T>A ENST00000355854.4 - 3 629 c.132A>T c.(130-132)aaA>aaT p.K44N CAB39L_ENST00000410043.1_Missense_Mutation_p.K44N|CAB39L_ENST00000409308.1_Missense_Mutation_p.K44N|CAB39L_ENST00000347776.5_Missense_Mutation_p.K44N NM_030925.2 NP_112187.2 Q9H9S4 CB39L_HUMAN calcium binding protein 39-like 44 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol protein binding breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1) 12 Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226) CTTGCAGTGATTTAGACACTT 0.393000 6 31 0 0 0.001984 0 0 ATM 472 broad.mit.edu 37 11 108163385 108163385 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:108163385C>T ENST00000278616.4 + 30 4861 c.4476C>T c.(4474-4476)tcC>tcT p.S1492S ATM_ENST00000452508.2_Silent_p.S1492S NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1492 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GTAGCTTCTCCCTTTGTTGTG 0.373000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 26 109 0 0 0.006320 0 0 GRID1 2894 broad.mit.edu 37 10 87487638 87487638 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:87487638C>T ENST00000327946.7 - 10 1592 c.1507G>A c.(1507-1509)Ggg>Agg p.G503R GRID1_ENST00000536331.1_Missense_Mutation_p.G74R NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 503 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CCGATCATCCCGTTCCAGGAG 0.537000 Multiple Myeloma(13;0.14) 14 43 0 0 0.001855 0 0 OR7D4 125958 broad.mit.edu 37 19 9324650 9324650 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9324650G>A ENST00000308682.2 - 1 892 c.864C>T c.(862-864)ttC>ttT p.F288F NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 GGCTGTAGATGAAGGGGTTCA 0.557000 16 45 0 0 0.006122 0 0 ZNF462 58499 broad.mit.edu 37 9 109687619 109687619 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:109687619C>T ENST00000277225.5 + 3 1715 c.1426C>T c.(1426-1428)Ccg>Tcg p.P476S ZNF462_ENST00000457913.1_Missense_Mutation_p.P476S Q96JM2 ZN462_HUMAN zinc finger protein 462 476 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 TGACGAATGTCCGTTTACTTG 0.458000 14 48 0 0 0.001855 0 0 MMP7 4316 broad.mit.edu 37 11 102395787 102395787 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:102395787C>T ENST00000260227.4 - 4 545 c.493G>A c.(493-495)Gac>Aac p.D165N NM_002423.3 NP_002414.1 P09237 MMP7_HUMAN matrix metallopeptidase 7 (matrilysin, uterine) 165 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0147) GGGTAGGAGTCCCCATGAGCT 0.448000 6 25 0 0 0.001984 0 0 CSMD3 114788 broad.mit.edu 37 8 113871494 113871494 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:113871494C>T ENST00000297405.5 - 11 1879 c.1633_splice c.e11-1 p.V545_splice CSMD3_ENST00000455883.2_Splice_Site_p.V441_splice|CSMD3_ENST00000352409.3_Splice_Site_p.V545_splice|CSMD3_ENST00000343508.3_Splice_Site_p.V505_splice NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 545 Sushi 2. 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 CACACGTTTTCACTAAAAGAG 0.348000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 14 27 0 0 0.003163 0 0 OR5M9 390162 broad.mit.edu 37 11 56230593 56230593 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:56230593G>A ENST00000279791.1 - 1 284 c.285C>T c.(283-285)tgC>tgT p.C95C NM_001004743.1 NP_001004743.1 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, member 9 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) ACTGCACCAAGCATCCCACAT 0.493000 28 41 0 0 0.013726 0 0 CPNE7 27132 broad.mit.edu 37 16 89655186 89655186 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:89655186C>T ENST00000268720.5 + 12 1386 c.1256C>T c.(1255-1257)tCc>tTc p.S419F CPNE7_ENST00000319518.8_Missense_Mutation_p.S344F NM_014427.4 NP_055242.1 Q9UBL6 CPNE7_HUMAN copine VII 419 VWFA. lipid metabolic process transporter activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2) 17 all_hematologic(23;0.0748) all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147) GCACTGGTGTCCGTGGGCGAG 0.622000 5 21 0 0 0.001168 0 0 ILDR1 286676 broad.mit.edu 37 3 121712060 121712060 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:121712060G>A ENST00000273691.3 - 6 1509 c.1404C>T c.(1402-1404)taC>taT p.Y468Y ILDR1_ENST00000393631.1_Silent_p.Y423Y|ILDR1_ENST00000462014.1_Silent_p.Y480Y|ILDR1_ENST00000344209.5_Silent_p.Y512Y|ILDR1_ENST00000460554.1_5'UTR NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 512 cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) CAAGTGAGCGGTAGCTAGGCG 0.642000 3 11 0 0 0.004672 0 0 GLIS3 169792 broad.mit.edu 37 9 4118013 4118013 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:4118013C>T ENST00000324333.10 - 3 1193 c.1000G>A c.(1000-1002)Gac>Aac p.D334N GLIS3_ENST00000381971.3_Missense_Mutation_p.D489N NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 334 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) TCCCCGTCGTCGTCCAGGGTG 0.701000 27 30 0 0 0.006320 0 0 POPDC3 64208 broad.mit.edu 37 6 105606500 105606500 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:105606500C>T ENST00000254765.3 - 4 999 c.721G>A c.(721-723)Gat>Aat p.D241N BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369120.2_RNA NM_022361.4 NP_071756.2 Q9HBV1 POPD3_HUMAN popeye domain containing 3 241 integral to membrane NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1) 26 all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238) TAGAGTTTATCTGCAATGTCA 0.393000 43 89 0 0 0.013114 0 0 ATAD2 29028 broad.mit.edu 37 8 124371873 124371873 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:124371873G>A ENST00000287394.5 - 10 1317 c.1210C>T c.(1210-1212)Cga>Tga p.R404* ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 404 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) ATTTTCATTCGATCTTTATAA 0.353000 9 33 0 0 0.010729 0 0 ROR2 4920 broad.mit.edu 37 9 94486579 94486579 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:94486579G>A ENST00000375708.3 - 9 2395 c.2197C>T c.(2197-2199)Ccc>Tcc p.P733S ROR2_ENST00000375715.1_Missense_Mutation_p.P593S|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 733 Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 CGCCGGCTGGGGAACTCGTTC 0.647000 28 32 0 0 0.008361 0 0 SAMD9 54809 broad.mit.edu 37 7 92731309 92731309 + Missense_Mutation SNP C C T rs138600971 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:92731309C>T ENST00000379958.2 - 3 4371 c.4102G>A c.(4102-4104)Gaa>Aaa p.E1368K NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1368 cytoplasm p.E1368K(1) 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) AAAGTATATTCGTTCACTATA 0.348000 28 63 0 0 0.006320 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74575135 74575135 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:74575135C>T ENST00000354431.4 - 5 1001 c.810G>A c.(808-810)aaG>aaA p.K270K LRRIQ3_ENST00000370909.2_Silent_p.K162K|LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000395089.1_Silent_p.K270K NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 270 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 AAAAGAGATCCTTAAGGAGCT 0.269000 18 19 0 0 0.006122 0 0 PPFIA4 8497 broad.mit.edu 37 1 203017806 203017806 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:203017806C>T ENST00000367240.2 + 11 1847 c.1320C>T c.(1318-1320)ctC>ctT p.L440L PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000447715.2_Silent_p.L444L|PPFIA4_ENST00000414050.2_Silent_p.L147L O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 134 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 GTCTGCAGCTCCACCTGAAGG 0.657000 7 13 0 0 0.006214 0 0 ARHGEF16 27237 broad.mit.edu 37 1 3395096 3395096 + Silent SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:3395096C>A ENST00000378378.4 + 12 2139 c.1734C>A c.(1732-1734)tcC>tcA p.S578S ARHGEF16_ENST00000378373.1_Silent_p.S290S|ARHGEF16_ENST00000413250.2_Silent_p.S282S|ARHGEF16_ENST00000378371.2_Silent_p.S290S NM_014448.3 NP_055263.2 Q5VV41 ARHGG_HUMAN Rho guanine nucleotide exchange factor (GEF) 16 578 PH. activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity lung(6)|ovary(1) 7 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) GTAGCTCCTCCGTGCCCCACC 0.662000 27 43 2.65835e-16 2.9157e-16 0.007291 1 0 TP53 7157 broad.mit.edu 37 17 7577070 7577070 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:7577070G>A ENST00000420246.2 - 8 1000 c.868C>T c.(868-870)Cgc>Tgc p.R290C TP53_ENST00000359597.4_Missense_Mutation_p.R290C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R290C|TP53_ENST00000269305.4_Missense_Mutation_p.R290C|TP53_ENST00000445888.2_Missense_Mutation_p.R290C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 290 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs55819519).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.N288fs*13(17)|p.0?(8)|p.R290C(3)|p.?(2)|p.R290fs*53(2)|p.R290fs*55(1)|p.T284_G293del10(1)|p.L265_K305del41(1)|p.N288fs*15(1)|p.R290fs*12(1)|p.R290fs*50(1)|p.K291fs*12(1)|p.R290fs*57(1)|p.R290_P295>X(1)|p.E285fs*13(1)|p.R290S(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCTTTCTTGCGGAGATTCTCT 0.567000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 17 17 0 0 0.006122 0 0 GPR63 81491 broad.mit.edu 37 6 97246843 97246843 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:97246843G>A ENST00000229955.3 - 2 1110 c.765C>T c.(763-765)ttC>ttT p.F255F GPR63_ENST00000417980.1_Silent_p.F255F NM_001143957.2|NM_030784.3 NP_001137429.1|NP_110411.1 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 255 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) GTATTACCAGGAAGGGTATGA 0.473000 34 45 0 0 0.003755 0 0 SLC26A9 115019 broad.mit.edu 37 1 205902073 205902073 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:205902073C>T ENST00000367135.3 - 3 378 c.265_splice c.e3+1 p.G89_splice SLC26A9_ENST00000367134.2_Splice_Site_p.G89_splice|SLC26A9_ENST00000340781.4_Splice_Site_p.G89_splice NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 89 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) GCCCCTTCACCTTGTGGGACC 0.572000 10 19 0 0 0.006214 0 0 KCNG4 93107 broad.mit.edu 37 16 84270666 84270666 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:84270666G>A ENST00000568181.1 - 2 546 c.426C>T c.(424-426)tcC>tcT p.S142S KCNG4_ENST00000308251.4_Silent_p.S142S Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, member 4 142 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 CCTCCTGGAAGGACAGCGCGC 0.652000 4 23 0 0 0.009096 0 0 IGHV3OR15-7 28318 broad.mit.edu 37 15 20193185 20193185 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:20193185C>T ENST00000558565.2 - 0 82 GACCAAGCCTCCCCCAGACTC 0.567000 8 19 0 0 0.004482 0 0 KL 9365 broad.mit.edu 37 13 33629411 33629411 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:33629411C>T ENST00000380099.3 + 3 1566 c.1558C>T c.(1558-1560)Ccc>Tcc p.P520S KL_ENST00000426690.2_Missense_Mutation_p.P213S|KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 520 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding p.P520S(1) breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) AGGGACATTTCCCTGTGACTT 0.438000 19 31 0 0 0.007413 0 0 SV2C 22987 broad.mit.edu 37 5 75596660 75596660 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:75596660G>A ENST00000502798.2 + 11 2185 c.1743G>A c.(1741-1743)tgG>tgA p.W581* RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Nonsense_Mutation_p.W581* NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 581 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) GTGCCTACTGGATTTATTTTG 0.403000 23 56 0 0 0.012319 0 0 OR8S1 341568 broad.mit.edu 37 12 48919720 48919720 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:48919720C>T ENST00000310194.1 + 1 306 c.306C>T c.(304-306)ttC>ttT p.F102F OR8S1_ENST00000551654.1_Intron NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 CTCAGGTCTTCTTTGTGTTTG 0.522000 32 18 0 0 0.009535 0 0 CSF2RA 1438 broad.mit.edu 37 X 1428348 1428348 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:1428348C>T ENST00000355432.3 + 11 1149 c.1000C>T c.(1000-1002)Ctt>Ttt p.L334F CSF2RA_ENST00000381529.3_Silent_p.V393V|CSF2RA_ENST00000417535.2_Silent_p.V427V|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000432318.2_Silent_p.V393V|CSF2RA_ENST00000501036.2_Silent_p.V260V|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000381524.3_Silent_p.V393V NM_172246.2 NP_758449.1 P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 0 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GCGAAGAGGTCTTGACCGTGA 0.537000 65 59 0 0 0.014410 0 0 EPHA7 2045 broad.mit.edu 37 6 93967835 93967835 + Missense_Mutation SNP C C T rs138518092 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:93967835C>T ENST00000369303.4 - 11 2276 c.2092G>A c.(2092-2094)Gaa>Aaa p.E698K NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 698 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) ACAACCCCTTCCAAATGGACA 0.343000 12 32 0 0 0.010729 0 0 ZNF782 158431 broad.mit.edu 37 9 99580357 99580357 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:99580357G>A ENST00000481138.1 - 6 2609 c.1948C>T c.(1948-1950)Cag>Tag p.Q650* ZNF782_ENST00000535338.1_Nonsense_Mutation_p.Q518* NM_001001662.1 NP_001001662.1 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 650 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3) 33 Acute lymphoblastic leukemia(62;0.0527) TCCCCACACTGATTACAATTA 0.413000 23 46 0 0 0.009535 0 0 IRGC 56269 broad.mit.edu 37 19 44223287 44223287 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:44223287G>A ENST00000244314.5 + 2 776 c.577G>A c.(577-579)Gag>Aag p.E193K NM_019612.3 NP_062558.1 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 193 membrane GTP binding|hydrolase activity, acting on acid anhydrides central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) TGTCCTGCAGGAGATCCGAGA 0.677000 18 53 0 0 0.012319 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643046 1643046 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:1643046G>A ENST00000399682.1 - 1 322 c.278C>T c.(277-279)tCc>tTc p.S93F NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 93 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ACCCCCACAGGAGACACAGCC 0.687000 11 84 0 0 0.001855 0 0 ACACB 32 broad.mit.edu 37 12 109631465 109631465 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:109631465C>T ENST00000338432.7 + 16 2531 c.2412C>T c.(2410-2412)ctC>ctT p.L804L ACACB_ENST00000377848.3_Silent_p.L804L|ACACB_ENST00000377854.5_Silent_p.L804L O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 804 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GCCAGGTCCTCCCAGCGGATT 0.493000 25 12 0 0 0.009535 0 0 LRRC7 57554 broad.mit.edu 37 1 70493873 70493873 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:70493873G>A ENST00000310961.5 + 19 2133 c.1715G>A c.(1714-1716)cGa>cAa p.R572Q RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.R567Q|LRRC7_ENST00000415775.2_Intron Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 567 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 AACCTAAAACGATATCCAACT 0.323000 23 50 0 0 0.003330 0 0 OR4D5 219875 broad.mit.edu 37 11 123810525 123810525 + Missense_Mutation SNP T T G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:123810525T>G ENST00000307033.2 + 1 276 c.202T>G c.(202-204)Ttc>Gtc p.F68V NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 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;0.0399) CAATCTTTCTTTCCTGGACTT 0.463000 6 53 0 0 0.001984 0 0 OR4K1 79544 broad.mit.edu 37 14 20404640 20404640 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:20404640C>T ENST00000285600.4 + 1 874 c.815C>T c.(814-816)tCt>tTt p.S272F NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 272 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) AAATTTCTTTCTGTGTTCTAC 0.418000 13 151 0 0 0.001855 0 0 TNS4 84951 broad.mit.edu 37 17 38645208 38645208 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:38645208G>A ENST00000254051.6 - 3 611 c.453C>T c.(451-453)atC>atT p.I151I NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 151 apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) AGGTCACCTCGATGTACTTTA 0.577000 47 23 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179590607 179590607 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179590607G>A ENST00000589042.1 - 70 20666 c.20442C>T c.(20440-20442)ttC>ttT p.F6814F RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.F5570F|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.F6497F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6497 Ig-like 49. 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) TACTTGTGTGGAAGTTTTTGG 0.428000 11 23 0 0 0.008291 0 0 NRP1 8829 broad.mit.edu 37 10 33481252 33481252 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:33481252C>T ENST00000265371.4 - 14 2544 c.2019G>A c.(2017-2019)tgG>tgA p.W673* NRP1_ENST00000395995.1_Nonsense_Mutation_p.W673*|NRP1_ENST00000374867.2_Nonsense_Mutation_p.W673* O14786 NRP1_HUMAN neuropilin 1 673 MAM. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) TCAACACACTCCACTTGAGCT 0.493000 48 156 0 0 0.014410 0 0 HOXA2 3199 broad.mit.edu 37 7 27140492 27140492 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:27140492G>A ENST00000222718.5 - 2 1294 c.984C>T c.(982-984)ttC>ttT p.F328F NM_006735.3 NP_006726.1 O43364 HXA2_HUMAN homeobox A2 328 nucleus sequence-specific DNA binding transcription factor activity breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 22 AATCTGTGGAGAAAACGCTAA 0.507000 26 44 0 0 0.006320 0 0 DGKK 139189 broad.mit.edu 37 X 50129459 50129459 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:50129459G>A ENST00000376025.2 - 0 2303 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) TTTGAGGAATGAAGGGCTTCC 0.473000 31 12 0 0 0.012213 0 0 NPAP1 23742 broad.mit.edu 37 15 24921258 24921258 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:24921258C>T ENST00000329468.2 + 1 718 c.244C>T c.(244-246)Ctg>Ttg p.L82L NM_018958.2 NP_061831.2 nuclear pore associated protein 1 GGCCGCCCCTCTGGGGGTCCT 0.692000 9 9 0 0 0.006214 0 0 PCSK6 5046 broad.mit.edu 37 15 101865106 101865106 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:101865106C>T ENST00000348070.1 - 18 2322 c.2323G>A c.(2323-2325)Gag>Aag p.E775K PCSK6_ENST00000358417.3_Missense_Mutation_p.E762K|PCSK6_ENST00000561177.1_5'UTR NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 776 CRM (Cys-rich motif). glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GTGTTCATCTCCTGGTGGTGA 0.562000 11 32 0 0 0.013537 0 0 CHD7 55636 broad.mit.edu 37 8 61769331 61769331 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:61769331C>T ENST00000423902.2 + 34 7971 c.7492C>T c.(7492-7494)Ctt>Ttt p.L2498F CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2498 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AAGGCATCTCCTTAATGGCTC 0.507000 34 78 0 0 0.004289 0 0 C12orf56 115749 broad.mit.edu 37 12 64746706 64746706 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:64746706G>A ENST00000543942.2 - 2 1009 c.383C>T c.(382-384)cCa>cTa p.P128L RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Missense_Mutation_p.P128L NM_001170633.1 NP_001164104.1 Q8IXR9 CL056_HUMAN chromosome 12 open reading frame 56 128 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1) 15 GBM - Glioblastoma multiforme(3;0.000582) GBM - Glioblastoma multiforme(28;0.0259) ATGATGAAATGGAAATAGGAA 0.313000 19 6 0 0 0.007413 0 0 MARK1 4139 broad.mit.edu 37 1 220752852 220752852 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:220752852A>T ENST00000366918.4 + 2 805 c.208A>T c.(208-210)Aat>Tat p.N70Y MARK1_ENST00000366917.4_Missense_Mutation_p.N70Y|MARK1_ENST00000472121.1_3'UTR|MARK1_ENST00000402574.1_5'UTR Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 70 Protein kinase. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) AGGGAAGGGAAATTTTGCCAA 0.428000 5 35 0 0 0.001168 0 0 AP1G1 164 broad.mit.edu 37 16 71807241 71807241 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:71807241G>A ENST00000299980.4 - 4 792 c.351C>T c.(349-351)ttC>ttT p.F117F AP1G1_ENST00000433195.2_Silent_p.F140F|AP1G1_ENST00000569748.1_Silent_p.F117F|AP1G1_ENST00000393512.3_Silent_p.F117F|AP1G1_ENST00000423132.2_Silent_p.F117F NM_001128.5 NP_001119.3 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit 117 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) ACCCCTGTACGAATTGCGTGC 0.478000 7 52 0 0 0.003080 0 0 DLG2 1740 broad.mit.edu 37 11 83673961 83673961 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:83673961G>A ENST00000398309.2 - 9 1462 c.992C>T c.(991-993)cCa>cTa p.P331L DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_Missense_Mutation_p.P85L|DLG2_ENST00000398301.2_Missense_Mutation_p.P370L|DLG2_ENST00000330014.6_Missense_Mutation_p.P270L|DLG2_ENST00000532653.1_Missense_Mutation_p.P331L|DLG2_ENST00000524982.1_Missense_Mutation_p.P331L|DLG2_ENST00000531015.1_Missense_Mutation_p.P298L|DLG2_ENST00000280241.8_Missense_Mutation_p.P370L|DLG2_ENST00000418306.2_Missense_Mutation_p.P280L|DLG2_ENST00000376104.2_Missense_Mutation_p.P436L|DLG2_ENST00000543673.1_Missense_Mutation_p.P436L NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 331 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) CATGTGCTTTGGAATTGGTGA 0.428000 36 49 0 0 0.005524 0 0 XIST 7503 broad.mit.edu 37 X 73062296 73062296 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:73062296G>A ENST00000429829.1 - 0 10292 NR_001564.2 CTTGTCCCCAGAATCTGACAA 0.413000 4 3 0 0 0.009096 0 0 SFMBT2 57713 broad.mit.edu 37 10 7214518 7214518 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:7214518G>A ENST00000361972.4 - 18 2180 c.2090C>T c.(2089-2091)tCc>tTc p.S697F SFMBT2_ENST00000397167.1_Missense_Mutation_p.S697F NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 697 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 CACGAAAATGGATTTCCGTCG 0.602000 9 25 0 0 0.004482 0 0 CATSPER1 117144 broad.mit.edu 37 11 65788969 65788969 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:65788969G>A ENST00000312106.5 - 4 1826 c.1689C>T c.(1687-1689)ctC>ctT p.L563L NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 563 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 CCACTGACCTGAGCCTCCGCA 0.617000 12 30 0 0 0.001855 0 0 MFSD5 84975 broad.mit.edu 37 12 53647726 53647726 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:53647726C>T ENST00000534842.1 + 2 1575 c.1428C>T c.(1426-1428)atC>atT p.I476I MFSD5_ENST00000329548.4_Silent_p.I369I NM_001170790.1 NP_001164261.1 Q6N075 MFSD5_HUMAN major facilitator superfamily domain containing 5 369 transport integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1) 16 GAAAGGTGATCCCTGAGACAG 0.517000 49 27 0 0 0.014410 0 0 MIIP 60672 broad.mit.edu 37 1 12082306 12082306 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:12082306C>T ENST00000235332.4 + 3 438 c.269C>T c.(268-270)tCg>tTg p.S90L MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Missense_Mutation_p.S90L NM_021933.3 NP_068752.2 Q5JXC2 MIIP_HUMAN migration and invasion inhibitory protein 90 autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 GTGGCCAGATCGGGGGTGGCC 0.677000 31 60 0 0 0.005524 0 0 TARSL2 123283 broad.mit.edu 37 15 102201982 102201982 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:102201982G>A ENST00000335968.3 - 16 2221 c.2005C>T c.(2005-2007)Cat>Tat p.H669Y TARSL2_ENST00000559492.1_5'UTR NM_152334.2 NP_689547.2 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 669 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1) 29 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ATGGCTCGATGAATGATCACA 0.333000 7 18 0 0 0.004482 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140752214 140752214 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140752214C>T ENST00000576222.1 + 1 2384 c.2253C>T c.(2251-2253)tcC>tcT p.S751S PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_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) TGCCTTATTCCTACAATCCGT 0.478000 8 21 0 0 0.003080 0 0 ZFAND2A 90637 broad.mit.edu 37 7 1197838 1197838 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:1197838G>A ENST00000401903.1 - 2 270 c.11C>T c.(10-12)cCt>cTt p.P4L ZFAND2A_ENST00000316495.3_Missense_Mutation_p.P4L Q8N6M9 ZFN2A_HUMAN zinc finger, AN1-type domain 2A 4 cytoplasm|nucleus zinc ion binding lung(2)|ovary(1) 3 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15) CCCCAAATCAGGAAACTCCAT 0.428000 33 202 0 0 0.013726 0 0 APC2 10297 broad.mit.edu 37 19 1453051 1453051 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:1453051C>T ENST00000535453.1 + 1 1764 c.51C>T c.(49-51)gcC>gcT p.A17A APC2_ENST00000233607.2_Silent_p.A17A|APC2_ENST00000238483.4_Silent_p.A17A O95996 APC2_HUMAN adenomatosis polyposis coli 2 17 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2) 18 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGTGGAGGCCTTGAAGGCTG 0.622000 15 21 0 0 0.003163 0 0 MAST3 23031 broad.mit.edu 37 19 18255851 18255851 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:18255851C>T ENST00000262811.5 + 23 2764 c.2764C>T c.(2764-2766)Ccg>Tcg p.P922S AC007192.6_ENST00000600364.1_RNA NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 922 Ser-rich. ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 CCCCCTTTCCCCGCGCTCTCT 0.687000 8 13 0 0 0.006214 0 0 RYR2 6262 broad.mit.edu 37 1 237494187 237494187 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:237494187C>T ENST00000366574.2 + 3 495 c.178C>T c.(178-180)Cca>Tca p.P60S RYR2_ENST00000542537.1_Missense_Mutation_p.P44S|RYR2_ENST00000360064.6_Silent_p.P57P NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 60 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GAATGTGCCCCCAGACCTCTC 0.542000 13 46 0 0 0.002450 0 0 ADAMTSL2 9719 broad.mit.edu 37 9 136412220 136412220 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:136412220A>G ENST00000393061.3 + 9 1583 c.1151A>G c.(1150-1152)aAg>aGg p.K384R ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.K275R|ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.K275R Q86TH1 ATL2_HUMAN ADAMTS-like 2 275 negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06) GACAGCCCCAAGAACTTCAAC 0.567000 33 146 0 0 0.003755 0 0 SLC35D3 340146 broad.mit.edu 37 6 137243769 137243769 + Missense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:137243769C>A ENST00000331858.4 + 1 368 c.203C>A c.(202-204)cCc>cAc p.P68H NM_001008783.1 NP_001008783.1 Q5M8T2 S35D3_HUMAN solute carrier family 35, member D3 68 carbohydrate transport integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365) ATCGCCGTGCCCCCCTTCGGT 0.716000 13 19 1.05317e-09 1.15051e-09 0.002450 1 0 ZC3HAV1 56829 broad.mit.edu 37 7 138763369 138763369 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:138763369G>A ENST00000242351.5 - 5 1818 c.1502C>T c.(1501-1503)tCt>tTt p.S501F ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.S501F|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.S623F NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 501 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 CACCCTAGAAGATGTGGTACT 0.383000 22 33 0 0 0.004656 0 0 GPR132 29933 broad.mit.edu 37 14 105518156 105518156 + Missense_Mutation SNP G G C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:105518156G>C ENST00000329797.3 - 4 1229 c.318C>G c.(316-318)caC>caG p.H106Q GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000392585.2_Missense_Mutation_p.H97Q|GPR132_ENST00000539291.2_Missense_Mutation_p.H106Q NM_013345.2 NP_037477.1 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 106 response to stress integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 18 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) GGGTCCAGCGGTGCTGGTTGC 0.602000 51 90 0 0 0.014410 0 0 ZNF133 7692 broad.mit.edu 37 20 18295808 18295808 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:18295808C>T ENST00000377671.3 + 7 869 c.310C>T c.(310-312)Ccc>Tcc p.P104S ZNF133_ENST00000316358.4_Missense_Mutation_p.P105S|ZNF133_ENST00000535822.1_Missense_Mutation_p.P10S|ZNF133_ENST00000538547.1_Missense_Mutation_p.P10S|ZNF133_ENST00000401790.1_Missense_Mutation_p.P105S|ZNF133_ENST00000396026.3_Missense_Mutation_p.P108S|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000402618.2_Missense_Mutation_p.P42S NM_001083330.1|NM_003434.4 NP_001076799.1|NP_003425.2 P52736 ZN133_HUMAN zinc finger protein 133 105 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 TAATCATCCCCCCTGGATCTT 0.572000 16 64 0 0 0.004990 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555032 44555032 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:44555032C>T ENST00000330682.2 - 1 1417 c.1182G>A c.(1180-1182)agG>agA p.R394R KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 394 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 GGCAATGAATCCTCCATAATT 0.582000 9 514 0 0 0.001855 0 0 RGL1 23179 broad.mit.edu 37 1 183885674 183885674 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:183885674C>T ENST00000304685.3 + 17 2409 c.1948C>T c.(1948-1950)Ccg>Tcg p.P650S RGL1_ENST00000536277.1_Missense_Mutation_p.P613S|RGL1_ENST00000360851.3_Missense_Mutation_p.P615S|RGL1_ENST00000539189.1_Missense_Mutation_p.P586S|RGL1_ENST00000367531.1_Missense_Mutation_p.P650S NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 615 Ras-associating. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 CTCCTCCCCTCCGTCCTGCAA 0.507000 27 122 0 0 0.007291 0 0 MYO5B 4645 broad.mit.edu 37 18 47432877 47432877 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:47432877G>A ENST00000285039.7 - 19 2625 c.2326C>T c.(2326-2328)Cgg>Tgg p.R776W NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 776 IQ 1. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.R776W(1) NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) AGCCATCCCCGGACAGTTTTC 0.592000 9 40 0 0 0.010729 0 0 GKAP1 80318 broad.mit.edu 37 9 86356932 86356932 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:86356932G>A ENST00000376371.2 - 12 1388 c.988C>T c.(988-990)Cat>Tat p.H330Y GKAP1_ENST00000376362.1_5'UTR|GKAP1_ENST00000376365.3_Missense_Mutation_p.H279Y NM_025211.3 NP_079487.2 Q5VSY0 GKAP1_HUMAN G kinase anchoring protein 1 330 signal transduction Golgi apparatus endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 14 AATGCAGCATGAAGTGAAGTC 0.294000 6 21 0 0 0.003080 0 0 C8orf34 116328 broad.mit.edu 37 8 69351845 69351845 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:69351845G>A ENST00000337103.4 + 1 1698 c.106G>A c.(106-108)Gga>Aga p.G36R C8orf34_ENST00000348340.2_Missense_Mutation_p.G61R|C8orf34_ENST00000539993.1_Missense_Mutation_p.G61R|C8orf34_ENST00000518698.1_Missense_Mutation_p.G147R|C8orf34_ENST00000523686.1_Missense_Mutation_p.G61R|C8orf34_ENST00000349492.3_3'UTR Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 61 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) AACTTTGTCTGGATCTGCAGC 0.378000 19 20 0 0 0.007413 0 0 VWA2 340706 broad.mit.edu 37 10 116045715 116045715 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:116045715G>A ENST00000603594.1 + 11 1336 c.1015G>A c.(1015-1017)Gaa>Aaa p.E339K VWA2_ENST00000392982.3_Missense_Mutation_p.E339K NM_001272046.1 NP_001258975.1 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 339 extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) GCTGAGCCTGGAATGCAGGGT 0.627000 10 21 0 0 0.006214 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151140886 151140886 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:151140886C>T ENST00000367328.1 + 13 1696 c.1384C>T c.(1384-1386)Cca>Tca p.P462S PLEKHG1_ENST00000358517.2_Missense_Mutation_p.P462S NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 462 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) AGGTTCTGCTCCATATCGGCT 0.438000 43 66 0 0 0.011902 0 0 MMP24 10893 broad.mit.edu 37 20 33834757 33834757 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:33834757C>T ENST00000246186.6 + 2 446 c.361C>T c.(361-363)Ccg>Tcg p.P121S MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000566203.1_RNA|EDEM2_ENST00000540582.1_Intron NM_006690.3 NP_006681.1 Q9Y5R2 MMP24_HUMAN matrix metallopeptidase 24 (membrane-inserted) 121 proteolysis integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5) 14 BRCA - Breast invasive adenocarcinoma(18;0.00252) TTACGGGATCCCGGTCACCGG 0.502000 27 46 0 0 0.006320 0 0 ASB13 79754 broad.mit.edu 37 10 5690985 5690985 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:5690985G>A ENST00000357700.6 - 4 491 c.465C>T c.(463-465)caC>caT p.H155H ASB13_ENST00000479033.1_5'UTR NM_024701.3 NP_078977.2 Q8WXK3 ASB13_HUMAN ankyrin repeat and SOCS box containing 13 155 intracellular signal transduction protein binding NS(1)|endometrium(3)|lung(3)|ovary(1) 8 GBM - Glioblastoma multiforme(2;9.59e-09) CACAGGCAACGTGCAGAGGGG 0.537000 15 50 0 0 0.002450 0 0 CDH4 1002 broad.mit.edu 37 20 60499465 60499465 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:60499465G>A ENST00000360469.5 + 11 1790 c.1702G>A c.(1702-1704)Gtg>Atg p.V568M CDH4_ENST00000543233.1_Missense_Mutation_p.V494M NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 568 Cadherin 4. 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) CACGGCGGCAGTGCTGGACCG 0.617000 7 31 0 0 0.003080 0 0 XDH 7498 broad.mit.edu 37 2 31595189 31595189 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:31595189G>A ENST00000379416.3 - 17 1809 c.1761C>T c.(1759-1761)gcC>gcT p.A587A NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 587 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CCTCACCAGAGGCCTGCATGT 0.627000 42 155 0 0 0.013114 0 0 NRP2 8828 broad.mit.edu 37 2 206608234 206608234 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:206608234G>A ENST00000360409.3 + 9 2390 c.1599G>A c.(1597-1599)aaG>aaA p.K533K NRP2_ENST00000355117.4_Silent_p.K533K|NRP2_ENST00000357118.4_Silent_p.K533K|NRP2_ENST00000417189.1_Silent_p.K533K|NRP2_ENST00000540841.1_Silent_p.K533K|NRP2_ENST00000272849.3_Silent_p.K533K|NRP2_ENST00000357785.5_Silent_p.K533K|NRP2_ENST00000540178.1_Silent_p.K533K|NRP2_ENST00000412873.2_Silent_p.K533K NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718.1|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 533 F5/8 type C 2. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 TAAACGGCAAGGACTGGGAAT 0.547000 20 25 0 0 0.008871 0 0 ADAM2 2515 broad.mit.edu 37 8 39627032 39627032 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:39627032G>A ENST00000265708.4 - 12 1194 c.1091C>T c.(1090-1092)tCa>tTa p.S364L ADAM2_ENST00000521880.1_Missense_Mutation_p.S364L|ADAM2_ENST00000347580.4_Missense_Mutation_p.S345L|ADAM2_ENST00000379853.2_Missense_Mutation_p.S238L NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 364 Peptidase M12B. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.S364L(1) haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CTTCTGCTTTGAAATAAAATG 0.408000 10 20 0 0 0.006214 0 0 CSMD2 114784 broad.mit.edu 37 1 34401488 34401488 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:34401488G>A ENST00000373381.4 - 4 761 c.585C>T c.(583-585)ttC>ttT p.F195F NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 155 Sushi 1. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CACCGAGGTTGAAGGTTGAAC 0.602000 37 78 0 0 0.009718 0 0 ME1 4199 broad.mit.edu 37 6 83933564 83933564 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:83933564G>A ENST00000369705.3 - 12 1480 c.1364C>T c.(1363-1365)tCc>tTc p.S455F ME1_ENST00000541327.1_Missense_Mutation_p.S289F|ME1_ENST00000543031.1_Missense_Mutation_p.S380F NM_002395.4 NP_002386.1 P48163 MAOX_HUMAN malic enzyme 1, NADP(+)-dependent, cytosolic 455 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) GAACACATAGGAATTGTTGCC 0.453000 7 17 0 0 0.001984 0 0 RELN 5649 broad.mit.edu 37 7 103290744 103290744 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:103290744C>T ENST00000428762.1 - 16 2138 c.1979G>A c.(1978-1980)gGa>gAa p.G660E RELN_ENST00000343529.5_Missense_Mutation_p.G660E|RELN_ENST00000424685.2_Missense_Mutation_p.G660E NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 660 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) CCACATGTTTCCAAGGATTGG 0.443000 27 57 0 0 0.008361 0 0 AK7 122481 broad.mit.edu 37 14 96904217 96904217 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:96904217G>A ENST00000267584.4 + 6 699 c.655G>A c.(655-657)Gga>Aga p.G219R NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 219 cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) ACTCCAGTATGGAGCGGAAGG 0.363000 20 21 0 0 0.004656 0 0 TTN 7273 broad.mit.edu 37 2 179604785 179604785 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179604785C>T ENST00000589042.1 - 48 13399 c.13175G>A c.(13174-13176)aGa>aAa p.R4392K TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R4029K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R4154K|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.R4221K|TTN_ENST00000591111.1_Missense_Mutation_p.R4075K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4075 Ig-like 24. 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) CAGGTTTAATCTCTGCTCTTC 0.468000 10 35 0 0 0.006214 0 0 MYH2 4620 broad.mit.edu 37 17 10443995 10443995 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:10443995C>T ENST00000245503.5 - 11 1308 c.924G>A c.(922-924)acG>acA p.T308T CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.T308T|MYH2_ENST00000532183.1_Silent_p.T308T NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 308 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.T308T(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CATATGGGTTCGTGGTAATCA 0.388000 14 18 0 0 0.004007 0 0 RIMS1 22999 broad.mit.edu 37 6 73102446 73102446 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:73102446G>A ENST00000264839.7 + 27 4099 c.4099G>A c.(4099-4101)Gat>Aat p.D1367N RIMS1_ENST00000522291.1_Missense_Mutation_p.D1117N|RIMS1_ENST00000425662.2_Missense_Mutation_p.D586N|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000521978.1_Missense_Mutation_p.D1518N|RIMS1_ENST00000414192.2_Missense_Mutation_p.D45N|RIMS1_ENST00000518273.1_Missense_Mutation_p.D1197N|RIMS1_ENST00000538414.1_Missense_Mutation_p.D324N|RIMS1_ENST00000517827.1_Missense_Mutation_p.D652N|RIMS1_ENST00000401910.3_Missense_Mutation_p.D838N|RIMS1_ENST00000523963.1_Missense_Mutation_p.D643N|RIMS1_ENST00000517960.1_Missense_Mutation_p.D1301N|RIMS1_ENST00000348717.5_Missense_Mutation_p.D1301N|RIMS1_ENST00000491071.2_Missense_Mutation_p.D1341N|RIMS1_ENST00000520567.1_Missense_Mutation_p.D1168N Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1518 Ser-rich. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) TCAATTCAGTGATTTTCTTGA 0.408000 29 44 0 0 0.006999 0 0 CRYBG3 131544 broad.mit.edu 37 3 97596414 97596414 + Missense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:97596414C>A ENST00000182096.4 + 1 596 c.532C>A c.(532-534)Ctt>Att p.L178I NM_153605.3 NP_705833.3 beta-gamma crystallin domain containing 3 breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2) 32 TGTTTTATCCCTTCTCCAGTC 0.468000 21 46 1.64113e-05 1.78086e-05 0.010504 1 0 FBXO27 126433 broad.mit.edu 37 19 39517545 39517545 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:39517545G>A ENST00000292853.4 - 5 792 c.673C>T c.(673-675)Ccc>Tcc p.P225S FBXO27_ENST00000600828.1_Missense_Mutation_p.P224S|FBXO27_ENST00000509137.2_Missense_Mutation_p.P225S NM_178820.3 NP_849142.1 Q8NI29 FBX27_HUMAN F-box protein 27 225 FBA. protein catabolic process SCF ubiquitin ligase complex glycoprotein binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2) 17 all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) TGCGGGATGGGATCAGGCACA 0.537000 52 82 0 0 0.014410 0 0 OR7G3 390883 broad.mit.edu 37 19 9236968 9236968 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9236968C>T ENST00000305444.2 - 1 658 c.659G>A c.(658-660)cGa>cAa p.R220Q NM_001001958.1 NP_001001958.1 Q8NG95 OR7G3_HUMAN olfactory receptor, family 7, subfamily G, member 3 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 GGAGACAATTCGTGTGTAAGA 0.423000 34 85 0 0 0.012213 0 0 MRO 83876 broad.mit.edu 37 18 48327874 48327874 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:48327874C>T ENST00000428869.2 - 7 688 c.429_splice c.e7-1 p.E144_splice MRO_ENST00000588444.1_Intron|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000431965.2_Intron|MRO_ENST00000256425.2_Splice_Site_p.E144_splice|MRO_ENST00000436348.2_Splice_Site_p.E158_splice|MRO_ENST00000398439.3_Splice_Site_p.E144_splice Q9BYG7 MSTRO_HUMAN maestro 144 nucleolus binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2) 10 Colorectal(6;0.0596) Colorectal(21;0.082) CTGTCGTTCTCCTGCGGTCCC 0.463000 29 128 0 0 0.003271 0 0 SELL 6402 broad.mit.edu 37 1 169672407 169672407 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:169672407G>A ENST00000236147.4 - 6 1140 c.980C>T c.(979-981)cCa>cTa p.P327L SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron NM_000655.4 NP_000646.2 P14151 LYAM1_HUMAN selectin L 314 blood coagulation|cell adhesion|leukocyte migration|regulation of immune response integral to plasma membrane glycosphingolipid binding|heparin binding|protease binding|sugar binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 15 all_hematologic(923;0.208) TTGACATATTGGACTAGGATT 0.378000 9 21 0 0 0.008291 0 0 ECT2L 345930 broad.mit.edu 37 6 139167690 139167690 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:139167690G>A ENST00000423192.1 + 7 940 c.779G>A c.(778-780)gGa>gAa p.G260E ECT2L_ENST00000367682.2_Missense_Mutation_p.G260E|ECT2L_ENST00000541398.1_Missense_Mutation_p.G191E Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 oncogene-like 260 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 AATATTTCTGGAAGCCATTCC 0.358000 """N, Splice, Mis""" ETP ALL 27 50 0 0 0.004656 0 0 ATP6V1H 51606 broad.mit.edu 37 8 54714393 54714393 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:54714393G>A ENST00000355221.3 - 7 1148 c.589C>T c.(589-591)Cgc>Tgc p.R197C ATP6V1H_ENST00000359530.2_Missense_Mutation_p.R215C|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.R175C|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.R215C NM_213619.2 NP_998784.1 Q9UI12 VATH_HUMAN ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H 215 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism p.R197C(1) endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1) 18 all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359) CAAGCAAAGCGGTACTCATTG 0.448000 19 19 0 0 0.012319 0 0 ACAN 176 broad.mit.edu 37 15 89386841 89386841 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:89386841C>T ENST00000439576.2 + 6 1387 c.1013C>T c.(1012-1014)cCc>cTc p.P338L ACAN_ENST00000558207.1_Missense_Mutation_p.P338L|ACAN_ENST00000352105.7_Missense_Mutation_p.P338L|ACAN_ENST00000559004.1_Missense_Mutation_p.P338L|ACAN_ENST00000561243.1_Missense_Mutation_p.P338L NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 338 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) ACGGGCTACCCCGACCCCTCA 0.647000 11 29 0 0 0.010729 0 0 CTNND2 1501 broad.mit.edu 37 5 11565118 11565118 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:11565118G>A ENST00000304623.8 - 3 414 c.225C>T c.(223-225)atC>atT p.I75I CTNND2_ENST00000503622.1_5'UTR|CTNND2_ENST00000511377.1_5'UTR|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.I75I NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 75 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 GGCTGGCTACGATCTGCCGTT 0.512000 6 12 0 0 0.001984 0 0 DUSP13 51207 broad.mit.edu 37 10 76867938 76867938 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:76867938C>T ENST00000372702.3 - 2 242 c.179G>A c.(178-180)tGg>tAg p.W60* DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000491677.2_5'UTR|DUSP13_ENST00000607131.1_Intron Q6B8I1 MDSP_HUMAN dual specificity phosphatase 13 60 Tyrosine-protein phosphatase. cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 8 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) GCCCAGCTTCCACAGCTCAAA 0.662000 15 38 0 0 0.004007 0 0 USP17L2 377630 broad.mit.edu 37 8 11995285 11995285 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:11995285T>A ENST00000333796.3 - 1 1301 c.985A>T c.(985-987)Agt>Tgt p.S329C FAM66D_ENST00000434078.2_RNA NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2 NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2 Q6R6M4 U17L2_HUMAN ubiquitin specific peptidase 17-like family member 2 329 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 TCGTGACAACTCCACCCAGCG 0.488000 6 31 0 0 0.001984 0 0 EFEMP1 2202 broad.mit.edu 37 2 56097878 56097878 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:56097878C>T ENST00000394555.2 - 10 1732 c.1297G>A c.(1297-1299)Gaa>Aaa p.E433K EFEMP1_ENST00000394554.1_Missense_Mutation_p.E433K|EFEMP1_ENST00000355426.3_Missense_Mutation_p.E433K|EFEMP1_ENST00000424836.2_Missense_Mutation_p.E295K NM_001039348.2|NM_001039349.2 NP_001034437.1|NP_001034438.1 Q12805 FBLN3_HUMAN EGF containing fibulin-like extracellular matrix protein 1 433 Mediates interaction with TIMP3. negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TCTCCATTTTCATTTCCAGAT 0.403000 13 31 0 0 0.002450 0 0 OR2T2 401992 broad.mit.edu 37 1 248616751 248616751 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:248616751C>T ENST00000342927.3 + 1 675 c.653C>T c.(652-654)tCc>tTc p.S218F NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 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) ATCTCTGTCTCCTACACGCAC 0.532000 19 44 0 0 0.008871 0 0 PTPRT 11122 broad.mit.edu 37 20 41306699 41306699 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:41306699G>A ENST00000373198.3 - 7 1195 c.960C>T c.(958-960)atC>atT p.I320I PTPRT_ENST00000373190.1_Silent_p.I320I|PTPRT_ENST00000373184.1_Silent_p.I320I|PTPRT_ENST00000356100.2_Silent_p.I320I|PTPRT_ENST00000373187.1_Silent_p.I320I|PTPRT_ENST00000373193.3_Silent_p.I320I|PTPRT_ENST00000373201.1_Silent_p.I320I NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 320 Fibronectin type-III 1. 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) CCTTCAGGATGATGGGGCCAT 0.587000 22 51 0 0 0.014323 0 0 PLCE1 51196 broad.mit.edu 37 10 96025694 96025694 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:96025694C>T ENST00000260766.3 + 16 4894 c.4260C>T c.(4258-4260)tcC>tcT p.S1420S PLCE1_ENST00000371380.2_Silent_p.S1420S|PLCE1_ENST00000371385.3_Silent_p.S1112S|PLCE1_ENST00000371375.1_Silent_p.S1112S NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 1420 PI-PLC X-box. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) AAGGAGAATCCTCGGTAGAAC 0.428000 13 36 0 0 0.006122 0 0 COL4A6 1288 broad.mit.edu 37 X 107431790 107431790 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:107431790C>T ENST00000394872.2 - 21 1778 c.1547G>A c.(1546-1548)gGa>gAa p.G516E COL4A6_ENST00000372216.4_Missense_Mutation_p.G516E|COL4A6_ENST00000545689.1_Missense_Mutation_p.G515E|COL4A6_ENST00000334504.7_Missense_Mutation_p.G515E|COL4A6_ENST00000538570.1_Missense_Mutation_p.G515E Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 516 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 GCCTCGATCTCCTCTGGCTCC 0.592000 Alport syndrome with Diffuse Leiomyomatosis 23 11 0 0 0.003330 0 0 OR2D2 120776 broad.mit.edu 37 11 6913584 6913584 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:6913584G>A ENST00000299459.2 - 1 246 c.148C>T c.(148-150)Cat>Tat p.H50Y NM_003700.1 NP_003691.1 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, member 2 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 18 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GAGTCAACATGAACAAGGGAG 0.458000 9 26 0 0 0.004482 0 0 CYP2C19 1557 broad.mit.edu 37 10 96580331 96580331 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:96580331G>A ENST00000371321.3 + 6 980 c.898G>A c.(898-900)Gag>Aag p.E300K CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 300 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) AGCTGGGACAGAGACAACAAG 0.428000 22 46 0 0 0.012319 0 0 ATRNL1 26033 broad.mit.edu 37 10 116919962 116919962 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:116919962C>T ENST00000355044.3 + 6 1117 c.991C>T c.(991-993)Caa>Taa p.Q331* ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Nonsense_Mutation_p.Q331* NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 331 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) CAGTTCTTTTCAAATGGTCCT 0.338000 20 45 0 0 0.008871 0 0 PRDX4 10549 broad.mit.edu 37 X 23697366 23697366 + Missense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:23697366C>A ENST00000379341.4 + 4 686 c.561C>A c.(559-561)gaC>gaA p.D187E NM_006406.1 NP_006397.1 Q13162 PRDX4_HUMAN peroxiredoxin 4 187 Thioredoxin. cell redox homeostasis|I-kappaB phosphorylation thioredoxin peroxidase activity lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 9 TCTCAAAGGACTATGGTGTAT 0.408000 34 27 8.16904e-11 8.9387e-11 0.007835 1 0 SACS 26278 broad.mit.edu 37 13 23909674 23909674 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:23909674G>A ENST00000382298.3 - 10 8929 c.8341C>T c.(8341-8343)Cat>Tat p.H2781Y SACS_ENST00000402364.1_Missense_Mutation_p.H2031Y|SACS_ENST00000382292.3_Missense_Mutation_p.H2781Y NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 2781 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) ACAGATGCATGAAATTGTTTC 0.353000 20 22 0 0 0.007413 0 0 NUP210L 91181 broad.mit.edu 37 1 154091221 154091221 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:154091221G>A ENST00000368559.3 - 11 1461 c.1390C>T c.(1390-1392)Ccc>Tcc p.P464S NUP210L_ENST00000271854.3_Missense_Mutation_p.P464S NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 464 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) AGCATGATGGGAAAATAAATC 0.323000 41 114 0 0 0.006999 0 0 INADL 10207 broad.mit.edu 37 1 62340985 62340985 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:62340985G>A ENST00000371158.2 + 21 3020 c.2906G>A c.(2905-2907)aGa>aAa p.R969K INADL_ENST00000316485.6_Missense_Mutation_p.R969K NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 969 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 CAACAAGGCAGATTTGACGAC 0.333000 21 63 0 0 0.008871 0 0 MTDH 92140 broad.mit.edu 37 8 98657030 98657030 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:98657030C>T ENST00000336273.3 + 1 624 c.296C>T c.(295-297)gCc>gTc p.A99V MTDH_ENST00000519934.1_Missense_Mutation_p.A76V NM_178812.3 NP_848927.2 Q86UE4 LYRIC_HUMAN metadherin 99 Interaction with BCCIP. lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) ccggccgcggcccccgACGAC 0.677000 3 7 0 0 0.009096 0 0 SIX2 10736 broad.mit.edu 37 2 45235712 45235712 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:45235712G>A ENST00000303077.6 - 1 857 c.538C>T c.(538-540)Cgg>Tgg p.R180W NM_016932.4 NP_058628.3 Q9NPC8 SIX2_HUMAN SIX homeobox 2 180 nucleus sequence-specific DNA binding transcription factor activity endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 22 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TCGGCCGCCCGGTCGCGCTGC 0.687000 27 55 0 0 0.009535 0 0 POTEH 23784 broad.mit.edu 37 22 16279248 16279248 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:16279248C>T ENST00000343518.6 - 4 1026 c.975G>A c.(973-975)gtG>gtA p.V325V NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 325 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TTAAAAATTTCACCACTTGCT 0.328000 35 371 0 0 0.009718 0 0 DUOX2 50506 broad.mit.edu 37 15 45389545 45389545 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:45389545G>A ENST00000389039.6 - 29 4123 c.3738C>T c.(3736-3738)ttC>ttT p.F1246F DUOX2_ENST00000603300.1_Silent_p.F1246F Q9NRD8 DUOX2_HUMAN dual oxidase 2 1246 Ferric oxidoreductase. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) AGTAGATGTGGAAAGTGGGCA 0.592000 17 50 0 0 0.007413 0 0 OR4K2 390431 broad.mit.edu 37 14 20344752 20344752 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:20344752G>A ENST00000298642.2 + 1 362 c.326G>A c.(325-327)gGa>gAa p.G109E NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTTTTCACTGGAACTGAGATC 0.438000 16 175 0 0 0.004990 0 0 MKLN1 4289 broad.mit.edu 37 7 131128415 131128415 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:131128415C>T ENST00000352689.6 + 11 1389 c.1349C>T c.(1348-1350)cCt>cTt p.P450L MKLN1_ENST00000421797.2_Missense_Mutation_p.P358L NM_013255.4 NP_037387.2 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing kelch motifs 450 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 Melanoma(18;0.162) AATGCTGGGCCTGAGGACATC 0.428000 9 54 0 0 0.004482 0 0 LRRC66 339977 broad.mit.edu 37 4 52861173 52861173 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:52861173C>T ENST00000343457.3 - 4 2021 c.2015G>A c.(2014-2016)aGa>aAa p.R672K NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 672 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 ACTGTCCCATCTTGGAGGAAA 0.552000 24 16 0 0 0.004656 0 0 ZNF473 25888 broad.mit.edu 37 19 50548690 50548690 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:50548690C>T ENST00000595661.1 + 6 1485 c.990C>T c.(988-990)acC>acT p.T330T CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Silent_p.T330T|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Silent_p.T318T|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Silent_p.T330T Q8WTR7 ZN473_HUMAN zinc finger protein 473 330 Interaction with SLBP/pre-mRNA complex. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) AGGCTTTTACCCGGATCTTCC 0.507000 11 75 0 0 0.010729 0 0 HRNR 388697 broad.mit.edu 37 1 152187491 152187491 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:152187491G>A ENST00000368801.2 - 3 6689 c.6614C>T c.(6613-6615)tCa>tTa p.S2205L FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2205 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) AGAACGACCTGAGCCAGACCC 0.607000 14 479 0 0 0.009535 0 0 DNAH9 1770 broad.mit.edu 37 17 11648291 11648291 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:11648291C>T ENST00000262442.3 + 31 6357 c.6289C>T c.(6289-6291)Ctc>Ttc p.L2097F DNAH9_ENST00000454412.2_Missense_Mutation_p.L2097F NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2097 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) GATCGGGGACCTCTTTCCCGC 0.572000 15 16 0 0 0.002450 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883655 228883655 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:228883655A>G ENST00000392056.3 - 7 1961 c.1915T>C c.(1915-1917)Ttt>Ctt p.F639L SPHKAP_ENST00000344657.5_Missense_Mutation_p.F639L NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 639 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GAGTCCAGAAAGTCTCCAATG 0.488000 18 21 0 0 0.004990 0 0 CSMD3 114788 broad.mit.edu 37 8 113585731 113585731 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:113585731G>A ENST00000297405.5 - 24 4285 c.4042_splice c.e24+1 p.T1347_splice CSMD3_ENST00000455883.2_Splice_Site_p.T1243_splice|CSMD3_ENST00000352409.3_Splice_Site_p.T1347_splice|CSMD3_ENST00000343508.3_Splice_Site_p.T1307_splice NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1347 CUB 7. 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 AATACTTACTGGTATACACAA 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 7 54 0 0 0.003080 0 0 PYGM 5837 broad.mit.edu 37 11 64525948 64525948 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:64525948C>T ENST00000164139.3 - 3 783 c.385G>A c.(385-387)Gat>Aat p.D129N PYGM_ENST00000377432.3_Intron NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 129 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) AGCCCCGCATCCTCCTCAATT 0.657000 21 65 0 0 0.004656 0 0 NSD1 64324 broad.mit.edu 37 5 176637091 176637091 + Missense_Mutation SNP C C T rs148196686 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:176637091C>T ENST00000439151.2 + 5 1736 c.1691C>T c.(1690-1692)gCc>gTc p.A564V NSD1_ENST00000361032.4_Missense_Mutation_p.A461V|NSD1_ENST00000354179.4_Missense_Mutation_p.A295V|NSD1_ENST00000347982.4_Missense_Mutation_p.A295V NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 564 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) 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)|Epithelial(233;0.198) Kidney(146;0.235) TCCAACACTGCCCCAGGAAGT 0.443000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 12 26 0 0 0.010729 0 0 ANGPT4 51378 broad.mit.edu 37 20 896618 896618 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:896618C>T ENST00000381922.3 - 1 342 c.240G>A c.(238-240)ggG>ggA p.G80G ANGPT4_ENST00000546022.1_Silent_p.G80G NM_015985.2 NP_057069.1 Q9Y264 ANGP4_HUMAN angiopoietin 4 80 anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 TGGGCAACTTCCCCAGGTGCA 0.622000 29 67 0 0 0.007291 0 0 RGS11 8786 broad.mit.edu 37 16 321019 321019 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:321019C>T ENST00000397770.3 - 13 960 c.943G>A c.(943-945)Gcc>Acc p.A315T ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Missense_Mutation_p.A294T|RGS11_ENST00000359740.5_Missense_Mutation_p.A304T O94810 RGS11_HUMAN regulator of G-protein signaling 11 315 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1) 8 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) ATGAAGTGGGCCCGCCCCACG 0.687000 15 26 0 0 0.008871 0 0 COL14A1 7373 broad.mit.edu 37 8 121381671 121381671 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:121381671C>T ENST00000297848.3 + 47 5528 c.5258C>T c.(5257-5259)tCt>tTt p.S1753F COL14A1_ENST00000247781.3_Missense_Mutation_p.S1658F|COL14A1_ENST00000309791.4_Missense_Mutation_p.S1753F NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1753 Triple-helical region 2 (COL1). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CAAGGTCCTTCTGGCCAGCCT 0.582000 19 43 0 0 0.008871 0 0 GPR98 84059 broad.mit.edu 37 5 90001301 90001301 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:90001301G>A ENST00000405460.2 + 37 8567 c.8471G>A c.(8470-8472)gGa>gAa p.G2824E NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2824 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) GAACCACATGGAGTTTTAAAT 0.418000 20 76 0 0 0.010504 0 0 ABCG4 64137 broad.mit.edu 37 11 119020882 119020882 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:119020882C>T ENST00000307417.3 + 2 571 c.207C>T c.(205-207)tcC>tcT p.S69S ABCG4_ENST00000531739.1_Silent_p.S69S|ABCG4_ENST00000449422.2_Silent_p.S69S NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 69 ABC transporter. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) TGTCCTATTCCGTGCGGGAGG 0.617000 52 69 0 0 0.014410 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42375522 42375522 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:42375522C>T ENST00000290472.3 - 8 640 c.546G>A c.(544-546)aaG>aaA p.K182K NM_178034.3 NP_828848.3 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD (cytosolic) 182 phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) CCAGCTCCAGCTTGTCCTGAT 0.592000 16 31 0 0 0.006122 0 0 ENPP3 5169 broad.mit.edu 37 6 132045225 132045225 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:132045225G>A ENST00000414305.1 + 20 2120 c.1792G>A c.(1792-1794)Gaa>Aaa p.E598K ENPP3_ENST00000357639.3_Missense_Mutation_p.E598K|ENPP3_ENST00000358229.5_Missense_Mutation_p.E598K O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 598 immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) TCTCACCCAAGAAGAAAGTAA 0.383000 7 20 0 0 0.003080 0 0 ADAM18 8749 broad.mit.edu 37 8 39502979 39502979 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:39502979G>A ENST00000265707.5 + 11 1077 c.1032G>A c.(1030-1032)atG>atA p.M344I ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.M320I NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 344 Peptidase M12B. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding p.M344I(1) NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) CATGCATCATGAATCATGAAG 0.308000 5 35 0 0 0.000602 0 0 HOXA9 3205 broad.mit.edu 37 7 27204563 27204563 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:27204563C>T ENST00000343483.6 - 1 586 c.514G>A c.(514-516)Gaa>Aaa p.E172K HOXA9_ENST00000396345.1_3'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.E12K|HOXA9_ENST00000497089.1_Intron|RP1-170O19.20_ENST00000465941.1_Intron NM_152739.3 NP_689952.1 P31269 HXA9_HUMAN homeobox A9 172 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1) 8 AAGGCGCCTTCGCTGGGTTGT 0.552000 T """NUP98, MSI2""" AML* 25 44 0 0 0.005443 0 0 TENM2 57451 broad.mit.edu 37 5 167517634 167517634 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:167517634C>T ENST00000519204.1 + 7 1326 c.1208C>T c.(1207-1209)cCc>cTc p.P403L CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000403607.2_Missense_Mutation_p.P357L|TENM2_ENST00000545108.1_Missense_Mutation_p.P524L|TENM2_ENST00000520394.1_Missense_Mutation_p.P292L|TENM2_ENST00000518659.1_Missense_Mutation_p.P524L teneurin transmembrane protein 2 GTTGAGTCTCCCAGGGAACGC 0.522000 7 57 0 0 0.003080 0 0 GPR50 9248 broad.mit.edu 37 X 150348464 150348464 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:150348464G>A ENST00000218316.3 + 2 478 c.409G>A c.(409-411)Gaa>Aaa p.E137K NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 137 cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CCTCCAGTACGAACGGATCTT 0.542000 30 14 0 0 0.008361 0 0 GABRQ 55879 broad.mit.edu 37 X 151818227 151818227 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:151818227C>T ENST00000370306.2 + 6 653 c.633C>T c.(631-633)atC>atT p.I211I NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 211 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) TTGAAGACATCATATTATTCT 0.448000 27 20 0 0 0.007291 0 0 MIA3 375056 broad.mit.edu 37 1 222801984 222801984 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:222801984C>T ENST00000344922.5 + 4 1447 c.1422C>T c.(1420-1422)tcC>tcT p.S474S MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Silent_p.S474S|MIA3_ENST00000344441.6_Silent_p.S474S NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 474 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) TTCAGGAATCCAAGAGGGGCC 0.393000 83 181 0 0 0.014410 0 0 LPPR3 79948 broad.mit.edu 37 19 814684 814684 + Missense_Mutation SNP G G A rs143962053 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:814684G>A ENST00000359894.2 - 6 728 c.665C>T c.(664-666)cCg>cTg p.P222L LPPR3_ENST00000520876.3_Intron NM_024888.2 NP_079164.1 Q6T4P5 LPPR3_HUMAN 219 integral to membrane phosphatidate phosphatase activity GTGAGGGGCCGGACTCACCGA 0.662000 9 24 0 0 0.008291 0 0 COL7A1 1294 broad.mit.edu 37 3 48625814 48625814 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:48625814C>T ENST00000328333.8 - 20 2718 c.2611G>A c.(2611-2613)Ggg>Agg p.G871R COL7A1_ENST00000454817.1_Missense_Mutation_p.G871R NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 871 Fibronectin type-III 8.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGAAGCGTCCCCAGGGCTGGC 0.692000 7 11 0 0 0.003080 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46012258 46012258 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr21:46012258G>A ENST00000400368.1 - 1 128 c.108C>T c.(106-108)gaC>gaT p.D36D TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 36 keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 TCTCTGGGCAGTCGTCCACCT 0.687000 6 9 0 0 0.001984 0 0 SORCS3 22986 broad.mit.edu 37 10 106865209 106865209 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:106865209G>A ENST00000369701.3 + 7 1375 c.1148G>A c.(1147-1149)gGg>gAg p.G383E NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 383 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) ACTAGAAGTGGGCCTTTTGCC 0.473000 21 42 0 0 0.012319 0 0 EPC1 80314 broad.mit.edu 37 10 32560821 32560821 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:32560821C>T ENST00000319778.6 - 13 2332 c.2030G>A c.(2029-2031)aGt>aAt p.S677N EPC1_ENST00000263062.8_Missense_Mutation_p.S700N|EPC1_ENST00000375110.2_Missense_Mutation_p.S627N NM_001272004.1|NM_001272019.1 NP_001258933.1|NP_001258948.1 Q9H2F5 EPC1_HUMAN enhancer of polycomb homolog 1 (Drosophila) 700 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1) 24 Prostate(175;0.0199) TGTAGTACTACTGAGGTGTAA 0.353000 4 25 0 0 0.001168 0 0 WFDC8 90199 broad.mit.edu 37 20 44181880 44181880 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:44181880C>T ENST00000357199.4 - 5 559 c.481G>A c.(481-483)Gaa>Aaa p.E161K WFDC8_ENST00000289953.2_Missense_Mutation_p.E161K NM_181510.2 NP_852611.2 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 161 WAP 2. extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1) 15 Myeloproliferative disorder(115;0.0122) TCCTTACGTTCAGTGAAAGGG 0.493000 18 20 0 0 0.008871 0 0 VPS41 27072 broad.mit.edu 37 7 38768147 38768147 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:38768147G>A ENST00000310301.4 - 27 2453 c.2399C>T c.(2398-2400)cCa>cTa p.P800L VPS41_ENST00000395969.2_Missense_Mutation_p.P775L NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) 800 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding 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 CTTACCTGATGGAAGAATAGG 0.373000 21 52 0 0 0.003954 0 0 OR2J2 26707 broad.mit.edu 37 6 29142195 29142195 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:29142195C>T ENST00000377167.2 + 1 885 c.783C>T c.(781-783)ctC>ctT p.L261L NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 GCATGTATCTCCAGCCACCAT 0.433000 33 71 0 0 0.012213 0 0 ANGEL1 23357 broad.mit.edu 37 14 77257025 77257025 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:77257025G>A ENST00000251089.2 - 9 1893 c.1781C>T c.(1780-1782)cCa>cTa p.P594L ANGEL1_ENST00000557179.1_Missense_Mutation_p.P159L NM_015305.3 NP_056120.2 Q9UNK9 ANGE1_HUMAN angel homolog 1 (Drosophila) 594 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 22 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) AAGACCCAATGGCATTGTAGT 0.532000 24 24 0 0 0.002780 0 0 GUCY2F 2986 broad.mit.edu 37 X 108697044 108697044 + Silent SNP G G A rs137951058 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:108697044G>A ENST00000218006.2 - 4 1368 c.1077C>T c.(1075-1077)atC>atT p.I359I NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 359 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 TGGCTTGTGCGATAAAGTAAA 0.418000 5 7 0 0 0.000602 0 0 TENM3 55714 broad.mit.edu 37 4 183650163 183650163 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:183650163C>T ENST00000511685.1 + 14 2537 c.2414C>T c.(2413-2415)tCc>tTc p.S805F TENM3_ENST00000406950.2_Missense_Mutation_p.S805F|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 CTACAGAGTTCCTGCCAGAAT 0.468000 11 11 0 0 0.010729 0 0 SLC2A2 6514 broad.mit.edu 37 3 170715855 170715855 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:170715855C>T ENST00000314251.3 - 11 1491 c.1412G>A c.(1411-1413)gGa>gAa p.G471E SLC2A2_ENST00000382808.4_Missense_Mutation_p.G352E NM_000340.1 NP_000331.1 P11168 GTR2_HUMAN solute carrier family 2 (facilitated glucose transporter), member 2 471 carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) CAGGAGCACTCCAGCAAAGAG 0.413000 5 26 0 0 0.000602 0 0 CCDC42 146849 broad.mit.edu 37 17 8644972 8644972 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:8644972C>T ENST00000293845.3 - 4 538 c.312G>A c.(310-312)cgG>cgA p.R104R CCDC42_ENST00000539522.2_Silent_p.R104R NM_144681.2 NP_653282.2 Q96M95 CCD42_HUMAN coiled-coil domain containing 42 104 kidney(1)|large_intestine(4)|lung(3)|ovary(1) 9 TGGCGCGGATCCGTTTCTGGT 0.672000 11 5 0 0 0.008291 0 0 FLG 2312 broad.mit.edu 37 1 152283599 152283599 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:152283599C>T ENST00000368799.1 - 3 3798 c.3763G>A c.(3763-3765)Gaa>Aaa p.E1255K FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1255 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) GATGATTGTTCCTGTCCCACC 0.562000 Ichthyosis 60 112 0 0 0.014410 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120920 38120920 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:38120920C>T ENST00000406386.3 + 7 2612 c.2357C>T c.(2356-2358)gCc>gTc p.A786V RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 786 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CCCAATAGAGCCACACGAGAC 0.542000 18 30 0 0 0.010504 0 0 KIAA1614 57710 broad.mit.edu 37 1 180905581 180905581 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:180905581C>T ENST00000367588.4 + 5 2591 c.2536C>T c.(2536-2538)Cct>Tct p.P846S KIAA1614_ENST00000367587.1_Missense_Mutation_p.P467S NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 846 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 CCCTCGGCCTCCTTCAAGAAG 0.637000 16 40 0 0 0.004990 0 0 PCLO 27445 broad.mit.edu 37 7 82583938 82583938 + Missense_Mutation SNP G G A rs61995903 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:82583938G>A ENST00000423517.2 - 5 6668 c.6331C>T c.(6331-6333)Ctc>Ttc p.L2111F PCLO_ENST00000333891.8_Missense_Mutation_p.L2111F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2042 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 GCTCCTGAGAGAACACTTGAT 0.463000 15 14 0 0 0.003163 0 0 SLC2A4 6517 broad.mit.edu 37 17 7186890 7186890 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:7186890C>T ENST00000317370.8 + 3 517 c.249C>T c.(247-249)ctC>ctT p.L83L RP1-4G17.2_ENST00000576271.1_RNA|SLC2A4_ENST00000424875.2_Silent_p.L73L|SLC2A4_ENST00000571308.1_Silent_p.L83L NM_001042.2 NP_001033.1 P14672 GTR4_HUMAN solute carrier family 2 (facilitated glucose transporter), member 4 83 carbohydrate metabolic process|glucose homeostasis|glucose import external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm D-glucose transmembrane transporter activity|protein binding breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 TCTGGGCCCTCTCCGTGGCCA 0.612000 20 56 0 0 0.002780 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6138236 6138236 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:6138236C>T ENST00000400104.3 - 14 1356 c.1156G>A c.(1156-1158)Gga>Aga p.G386R L3MBTL4_ENST00000317931.7_Missense_Mutation_p.G386R|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.G386R|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.G199R|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.G386R Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 386 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) TGGCCTATTCCTCGGCACCCG 0.438000 6 14 0 0 0.004482 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64718908 64718908 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:64718908G>A ENST00000338957.4 + 3 845 c.778G>A c.(778-780)Gaa>Aaa p.E260K ZC3H12B_ENST00000423889.3_Missense_Mutation_p.E249K NM_001010888.3 NP_001010888.3 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 249 endonuclease activity|nucleic acid binding|zinc ion binding p.E110K(1)|p.E196K(1) breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ACTGGAGAAGGAAAAGATTCT 0.393000 61 37 0 0 0.014410 0 0 ANO2 57101 broad.mit.edu 37 12 5722088 5722088 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:5722088G>A ENST00000356134.5 - 20 2039 c.1968C>T c.(1966-1968)ttC>ttT p.F656F ANO2_ENST00000546188.1_Silent_p.F656F|ANO2_ENST00000327087.8_Silent_p.F655F NM_001278596.1|NM_001278597.1 NP_001265525.1|NP_001265526.1 Q9NQ90 ANO2_HUMAN anoctamin 2 660 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity p.F656F(1) 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 GGTAACCATCGAATACATAGA 0.517000 30 20 0 0 0.003271 0 0 NAP1L3 4675 broad.mit.edu 37 X 92926783 92926783 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:92926783T>C ENST00000373079.3 - 1 1784 c.1521A>G c.(1519-1521)taA>taG p.*507* NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 0 nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 TCAGATTGACTTATTTTCTGT 0.323000 10 4 0 0 0.006214 0 0 SVOPL 136306 broad.mit.edu 37 7 138329483 138329483 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:138329483C>T ENST00000421622.1 - 5 616 c.408G>A c.(406-408)ggG>ggA p.G136G SVOPL_ENST00000436657.1_Silent_p.G104G|SVOPL_ENST00000419765.3_Silent_p.G256G|SVOPL_ENST00000288513.5_Silent_p.G104G Q8N434 SVOPL_HUMAN SVOP-like 256 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 CCACCAGCTTCCCCTCCGGCA 0.627000 17 25 0 0 0.008871 0 0 SFTPA2 729238 broad.mit.edu 37 10 81318678 81318678 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:81318678C>T ENST00000372325.2 - 4 340 c.256G>A c.(256-258)Gga>Aga p.G86R SFTPA2_ENST00000372327.5_Missense_Mutation_p.G86R NM_001098668.2 NP_001092138.1 Q8IWL1 SFPA2_HUMAN surfactant protein A2 86 Collagen-like. cell junction assembly|respiratory gaseous exchange collagen|extracellular space sugar binding endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) CCCTTCTCTCCACGCTCTCCA 0.627000 Pulmonary Fibrosis, Idiopathic 37 79 0 0 0.003271 0 0 KCNH6 81033 broad.mit.edu 37 17 61623248 61623248 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:61623248G>A ENST00000583023.1 + 14 2981 c.2970G>A c.(2968-2970)ggG>ggA p.G990G KCNH6_ENST00000456941.2_Silent_p.G901G|KCNH6_ENST00000581784.1_Silent_p.G901G|KCNH6_ENST00000314672.5_Silent_p.G954G NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 990 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) GATTTGCAGGGAGTTGGGGCC 0.567000 30 16 0 0 0.012213 0 0 SEMA3E 9723 broad.mit.edu 37 7 83029529 83029529 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:83029529G>A ENST00000307792.3 - 11 1648 c.1181C>T c.(1180-1182)aCc>aTc p.T394I SEMA3E_ENST00000427262.1_Missense_Mutation_p.T334I NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 394 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) ATAGTCCTTGGTGGTTCCGTA 0.383000 19 101 0 0 0.014323 0 0 ZNF804B 219578 broad.mit.edu 37 7 88963763 88963763 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:88963763G>A ENST00000333190.4 + 4 2076 c.1467G>A c.(1465-1467)aaG>aaA p.K489K NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 489 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) GGAACACAAAGGAAGACCACA 0.408000 HNSCC(36;0.09) 10 19 0 0 0.010729 0 0 RBMX2 51634 broad.mit.edu 37 X 129543258 129543258 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:129543258C>T ENST00000305536.6 + 4 265 c.201C>T c.(199-201)ctC>ctT p.L67L RBMX2_ENST00000469953.1_3'UTR NM_016024.2 NP_057108.2 Q9Y388 RBMX2_HUMAN RNA binding motif protein, X-linked 2 67 RRM. nucleotide binding|RNA binding breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 19 ACATTAATCTCGTGCGGGACA 0.368000 9 25 0 0 0.008291 0 0 CCDC178 374864 broad.mit.edu 37 18 30928858 30928858 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:30928858C>T ENST00000383096.3 - 8 635 c.453G>A c.(451-453)aaG>aaA p.K151K CCDC178_ENST00000403303.1_Silent_p.K151K|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Silent_p.K151K|CCDC178_ENST00000402325.1_Silent_p.K151K|CCDC178_ENST00000406524.2_Silent_p.K151K|CCDC178_ENST00000583930.1_Silent_p.K151K|CCDC178_ENST00000579947.1_Silent_p.K151K coiled-coil domain containing 178 CTTTACCTCTCTTTTCTCCTG 0.333000 11 19 0 0 0.013537 0 0 OR4M2 390538 broad.mit.edu 37 15 22368629 22368629 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:22368629C>T ENST00000332663.2 + 1 152 c.54C>T c.(52-54)tcC>tcT p.S18S RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CTGGCCTATCCCAGACTCCAG 0.353000 35 67 0 0 0.004878 0 0 TRANK1 9881 broad.mit.edu 37 3 36898105 36898105 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:36898105C>T ENST00000429976.2 - 12 3223 c.2976G>A c.(2974-2976)atG>atA p.M992I TRANK1_ENST00000428977.2_Missense_Mutation_p.M442I|TRANK1_ENST00000301807.6_Missense_Mutation_p.M442I O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 992 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding p.M442I(2)|p.M992I(1) 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 TGTTAAAGGCCATGTTGGTGC 0.537000 58 142 0 0 0.014410 0 0 OR10K2 391107 broad.mit.edu 37 1 158389728 158389728 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:158389728G>A ENST00000314902.2 - 1 928 c.929C>T c.(928-930)tCc>tTc p.S310F NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S310F(1) NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) TTACAACAGGGAAATTGTTCT 0.388000 5 26 0 0 0.000602 0 0 LMOD1 25802 broad.mit.edu 37 1 201869306 201869306 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:201869306C>T ENST00000367288.4 - 2 1081 c.835G>A c.(835-837)Gaa>Aaa p.E279K NM_012134.2 NP_036266.2 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 279 8 X approximate tandem repeats. muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 GCTTCCTTTTCATGTAAGGGT 0.493000 12 23 0 0 0.002450 0 0 APOB 338 broad.mit.edu 37 2 21245816 21245816 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:21245816C>T ENST00000233242.1 - 18 2830 c.2703G>A c.(2701-2703)atG>atA p.M901I NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 901 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) AGTTGGTGTTCATCTGGACCC 0.512000 142 236 0 0 0.014410 0 0 TULP2 7288 broad.mit.edu 37 19 49398325 49398325 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:49398325G>A ENST00000221399.3 - 6 588 c.444C>T c.(442-444)tcC>tcT p.S148S NM_003323.2 NP_003314.2 O00295 TULP2_HUMAN tubby like protein 2 148 visual perception cytoplasm|extracellular region NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 22 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) GGGGAGAGACGGAACCATTCT 0.532000 20 32 0 0 0.008871 0 0 ASH1L 55870 broad.mit.edu 37 1 155448167 155448167 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:155448167G>A ENST00000368346.3 - 3 5133 c.4494C>T c.(4492-4494)ccC>ccT p.P1498P ASH1L_ENST00000392403.3_Silent_p.P1498P Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1498 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) TAGAAACCTGGGGTTGTTCAG 0.493000 24 52 0 0 0.002780 0 0 HDC 3067 broad.mit.edu 37 15 50545818 50545818 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:50545818G>A ENST00000267845.3 - 7 1168 c.766C>T c.(766-768)Ctg>Ttg p.L256L HDC_ENST00000543581.1_Silent_p.L256L NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 256 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity p.L256L(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) AGCTCTGACAGGCAGTCAAAT 0.488000 6 46 0 0 0.003080 0 0 BCR 613 broad.mit.edu 37 22 23603604 23603604 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:23603604C>T ENST00000305877.8 + 4 2380 c.1629C>T c.(1627-1629)atC>atT p.I543I BCR_ENST00000359540.3_Silent_p.I543I NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 543 DH. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 GTCAGCAGATCGAGACCATCT 0.587000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 46 90 0 0 0.013114 0 0 ASTN2 23245 broad.mit.edu 37 9 119739047 119739047 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:119739047C>T ENST00000313400.4 - 8 1709 c.1609G>A c.(1609-1611)Gaa>Aaa p.E537K ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.E537K|ASTN2_ENST00000361209.2_Missense_Mutation_p.E486K O75129 ASTN2_HUMAN astrotactin 2 537 EGF-like 1. 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 GCATAGCCTTCATGACAGCTG 0.483000 23 13 0 0 0.004656 0 0 CA1 759 broad.mit.edu 37 8 86249251 86249251 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:86249251G>A ENST00000523953.1 - 5 1323 c.277C>T c.(277-279)Cag>Tag p.Q93* CA1_ENST00000432364.2_Nonsense_Mutation_p.Q93*|CA1_ENST00000522389.1_Intron|CA1_ENST00000256119.5_Nonsense_Mutation_p.Q93*|CA1_ENST00000523022.1_Nonsense_Mutation_p.Q93*|CA1_ENST00000542576.1_Nonsense_Mutation_p.Q93*|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000431316.1_Nonsense_Mutation_p.Q93* P00915 CAH1_HUMAN carbonic anhydrase I 93 one-carbon metabolic process Golgi apparatus carbonate dehydratase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 13 all_lung(136;4.89e-06) Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909) AAATGGAACTGAAAGAGCCTG 0.433000 25 44 0 0 0.003954 0 0 OR51S1 119692 broad.mit.edu 37 11 4869580 4869580 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:4869580G>A ENST00000322101.2 - 1 934 c.859C>T c.(859-861)Cat>Tat p.H287Y MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AGAAGGAAATGGACATAGGAT 0.448000 14 54 0 0 0.004990 0 0 IL5RA 3568 broad.mit.edu 37 3 3146588 3146588 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:3146588C>T ENST00000446632.2 - 3 655 c.82_splice c.e3+1 p.K27_splice IL5RA_ENST00000456302.1_Splice_Site_p.K27_splice|IL5RA_ENST00000430514.2_Splice_Site_p.K27_splice|IL5RA_ENST00000418488.2_Splice_Site_p.K27_splice|IL5RA_ENST00000383846.1_Splice_Site_p.K27_splice|IL5RA_ENST00000311981.8_Splice_Site_p.K27_splice|IL5RA_ENST00000256452.3_Splice_Site_p.K27_splice|IL5RA_ENST00000445864.2_Splice_Site_p.K27_splice|IL5RA_ENST00000438560.1_Splice_Site_p.K27_splice NM_175726.3 NP_783853.1 Q01344 IL5RA_HUMAN interleukin 5 receptor, alpha 27 cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 24 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) GGTCCTTACTCTTTTCATCAG 0.338000 7 36 0 0 0.001984 0 0 RORB 6096 broad.mit.edu 37 9 77257730 77257730 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:77257730C>T ENST00000376896.2 + 4 1248 c.637_splice c.e4+1 p.I212_splice RORB_ENST00000396204.2_Splice_Site_p.I223_splice NM_006914.3 NP_008845.2 Q92753 RORB_HUMAN RAR-related orphan receptor B 223 Hinge (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 TGACTGAAATCGGTAAGTGGA 0.388000 19 29 0 0 0.010504 0 0 GPR31 2853 broad.mit.edu 37 6 167570663 167570663 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:167570663C>T ENST00000366834.1 - 1 1154 c.657G>A c.(655-657)cgG>cgA p.R219R NM_005299.2 NP_005290.2 O00270 GPR31_HUMAN G protein-coupled receptor 31 219 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1) 17 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492) GTGCCTGGGCCCGCTGAAGCT 0.572000 8 51 0 0 0.003080 0 0 NUP205 23165 broad.mit.edu 37 7 135301894 135301894 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:135301894G>A ENST00000285968.6 + 26 3615 c.3589G>A c.(3589-3591)Gag>Aag p.E1197K NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 1197 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GGAGATCCCTGAGCCTTTGCA 0.368000 7 32 0 0 0.001984 0 0 DKKL1 27120 broad.mit.edu 37 19 49878092 49878092 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:49878092C>T ENST00000221498.2 + 5 941 c.536C>T c.(535-537)tCc>tTc p.S179F DKKL1_ENST00000594268.1_Missense_Mutation_p.S37F|AC010524.2_ENST00000599433.1_RNA NM_014419.3 NP_055234.1 Q9UK85 DKKL1_HUMAN dickkopf-like 1 179 anatomical structure morphogenesis extracellular space protein binding|signal transducer activity large_intestine(2)|upper_aerodigestive_tract(1) 3 all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456) CGGCGGAGGTCCCACCAGGAT 0.652000 14 18 0 0 0.004007 0 0 KCNT2 343450 broad.mit.edu 37 1 196197413 196197413 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:196197413G>A ENST00000367433.5 - 27 3378 c.3277C>T c.(3277-3279)Cga>Tga p.R1093* KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Nonsense_Mutation_p.R1117*|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.R1051* Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 1117 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 CTGTTTCTTCGACTGGGCTCA 0.368000 8 35 0 0 0.008291 0 0 SFXN4 119559 broad.mit.edu 37 10 120919252 120919252 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:120919252G>A ENST00000355697.2 - 6 367 c.348C>T c.(346-348)ttC>ttT p.F116F SFXN4_ENST00000330036.6_Silent_p.F107F|SFXN4_ENST00000461438.1_5'UTR NM_213649.1 NP_998814.1 Q6P4A7 SFXN4_HUMAN sideroflexin 4 116 iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 11 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0261) TGGGTGCCATGAAAGGCAGGA 0.587000 8 28 0 0 0.006214 0 0 EHD1 10938 broad.mit.edu 37 11 64627465 64627465 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:64627465G>A ENST00000320631.3 - 3 1100 c.846C>T c.(844-846)atC>atT p.I282I EHD1_ENST00000359393.2_Silent_p.I282I NM_006795.2 NP_006786.2 Q9H4M9 EHD1_HUMAN EH-domain containing 1 282 blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 GCAGTGACTGGATGTCCTTGA 0.617000 9 44 0 0 0.006214 0 0 KDM1B 221656 broad.mit.edu 37 6 18171642 18171642 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:18171642G>A ENST00000388870.2 + 7 707 c.466G>A c.(466-468)Gaa>Aaa p.E156K KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000297792.5_Missense_Mutation_p.E156K|KDM1B_ENST00000397244.1_Missense_Mutation_p.E156K Q8NB78 KDM1B_HUMAN lysine (K)-specific demethylase 1B 156 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding p.E156K(1) breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1) 25 GCTTACCAAGGAAATCCAGCT 0.388000 12 28 0 0 0.013537 0 0 NUAK2 81788 broad.mit.edu 37 1 205273195 205273195 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:205273195C>T ENST00000367157.3 - 7 1396 c.1270G>A c.(1270-1272)Gag>Aag p.E424K NM_030952.1 NP_112214.1 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 424 actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) GGAGGGTCCTCCTGTACCCCT 0.627000 30 44 0 0 0.010818 0 0 CDH7 1005 broad.mit.edu 37 18 63492003 63492003 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:63492003G>A ENST00000536984.2 + 6 1611 c.917G>A c.(916-918)gGt>gAt p.G306D CDH7_ENST00000323011.3_Missense_Mutation_p.G306D|CDH7_ENST00000397968.2_Missense_Mutation_p.G306D Q9ULB5 CADH7_HUMAN cadherin 7, type 2 306 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) GATGGTGATGGTTTGGGCATT 0.368000 17 36 0 0 0.007413 0 0 ABCA13 154664 broad.mit.edu 37 7 48317803 48317803 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:48317803C>T ENST00000435803.1 + 18 7036 c.7012C>T c.(7012-7014)Cac>Tac p.H2338Y NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2338 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GACTATATATCACCTAATGAA 0.294000 5 18 0 0 0.000602 0 0 NMNAT2 23057 broad.mit.edu 37 1 183262847 183262847 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:183262847C>T ENST00000287713.6 - 2 501 c.167G>A c.(166-168)gGa>gAa p.G56E NMNAT2_ENST00000294868.4_Missense_Mutation_p.G51E NM_015039.3 NP_055854.1 Q9BZQ4 NMNA2_HUMAN nicotinamide nucleotide adenylyltransferase 2 56 water-soluble vitamin metabolic process Golgi membrane|nucleus ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity p.G56E(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2) 18 CACCTGTTTTCCATAGGAGTC 0.522000 15 59 0 0 0.004007 0 0 PCSK9 255738 broad.mit.edu 37 1 55521827 55521827 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:55521827G>A ENST00000302118.5 + 6 1251 c.961G>A c.(961-963)Gat>Aat p.D321N PCSK9_ENST00000543384.1_Missense_Mutation_p.D121N|PCSK9_ENST00000490692.1_3'UTR NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 321 Peptidase S8. cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 CTTCCGGGACGATGCCTGCCT 0.746000 22 113 0 0 0.003330 0 0 OR11L1 391189 broad.mit.edu 37 1 248004859 248004859 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:248004859G>A ENST00000355784.2 - 1 395 c.340C>T c.(340-342)Ctc>Ttc p.L114F NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 114 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) AAGGCCAGGAGAAAGCACTCG 0.597000 4 13 0 0 0.001168 0 0 SLC9A2 6549 broad.mit.edu 37 2 103274276 103274276 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:103274276C>T ENST00000233969.2 + 2 685 c.543C>T c.(541-543)tcC>tcT p.S181S NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 181 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TTTGGAATTCCATTGGCATTG 0.498000 82 115 0 0 0.014410 0 0 KIF21B 23046 broad.mit.edu 37 1 200950134 200950134 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:200950134G>A ENST00000332129.2 - 28 4210 c.3894C>T c.(3892-3894)atC>atT p.I1298I KIF21B_ENST00000360529.5_Silent_p.I1298I|KIF21B_ENST00000422435.2_Silent_p.I1311I|KIF21B_ENST00000461742.2_Silent_p.I1311I NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1311 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CCAGGCAGAGGATGGGCTTGG 0.612000 17 41 0 0 0.007413 0 0 IGSF10 285313 broad.mit.edu 37 3 151176435 151176435 + Silent SNP G G A rs141824930 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:151176435G>A ENST00000282466.3 - 1 62 c.63C>T c.(61-63)gtC>gtT p.V21V NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 21 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CAGGGGTGGCGACCAGGCAGA 0.527000 13 37 0 0 0.004007 0 0 UBE4A 9354 broad.mit.edu 37 11 118243308 118243308 + Silent SNP C C T rs149631434 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:118243308C>T ENST00000252108.3 + 6 779 c.648C>T c.(646-648)acC>acT p.T216T UBE4A_ENST00000431736.2_Silent_p.T216T NM_001204077.1|NM_004788.3 NP_001191006.1|NP_004779.2 Q14139 UBE4A_HUMAN ubiquitination factor E4A 216 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) TTCTTCTCACCCCAGAGATCT 0.468000 5 47 0 0 0.000602 0 0 MARK2 2011 broad.mit.edu 37 11 63676485 63676485 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:63676485C>T ENST00000402010.2 + 19 2722 c.2143C>T c.(2143-2145)Cgc>Tgc p.R715C MARK2_ENST00000377809.4_Missense_Mutation_p.R700C|MARK2_ENST00000508192.1_Missense_Mutation_p.R651C|MARK2_ENST00000408948.3_Missense_Mutation_p.R618C|MARK2_ENST00000315032.8_Missense_Mutation_p.R706C|MARK2_ENST00000413835.2_Missense_Mutation_p.R661C|MARK2_ENST00000377810.3_Missense_Mutation_p.R618C|MARK2_ENST00000513765.2_Missense_Mutation_p.R682C|MARK2_ENST00000350490.7_Missense_Mutation_p.R636C|MARK2_ENST00000509502.2_Missense_Mutation_p.R672C|MARK2_ENST00000425897.2_Missense_Mutation_p.R626C|MARK2_ENST00000361128.5_Missense_Mutation_p.R646C|MARK2_ENST00000502399.3_Missense_Mutation_p.R705C NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 715 cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 GCGGGAGATCCGCAAGGTGCT 0.607000 11 14 0 0 0.008291 0 0 FUT3 2525 broad.mit.edu 37 19 5844471 5844471 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:5844471G>A ENST00000303225.6 - 3 1014 c.380C>T c.(379-381)cCg>cTg p.P127L FUT3_ENST00000589620.1_Missense_Mutation_p.P127L|FUT3_ENST00000589918.1_Missense_Mutation_p.P127L|FUT3_ENST00000458379.2_Missense_Mutation_p.P127L NM_000149.3 NP_000140.1 P21217 FUT3_HUMAN fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) 127 protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 CTGCCCCTGCGGCCTCGGGGA 0.597000 29 55 0 0 0.007291 0 0 CHRM2 1129 broad.mit.edu 37 7 136700504 136700504 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:136700504G>A ENST00000445907.2 + 3 1420 c.892G>A c.(892-894)Gat>Aat p.D298N AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.D298N|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.D298N|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.D298N|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.D298N|CHRM2_ENST00000453373.1_Missense_Mutation_p.D298N|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000593789.1_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 298 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) TAATATGAGAGATGATGAAAT 0.478000 27 36 0 0 0.005443 0 0 PAPPA2 60676 broad.mit.edu 37 1 176640163 176640163 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:176640163C>T ENST00000367662.3 + 4 3213 c.2049C>T c.(2047-2049)ttC>ttT p.F683F PAPPA2_ENST00000367661.3_Silent_p.F683F NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 683 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GTACTCACTTCCTCAACATCT 0.512000 39 174 0 0 0.006999 0 0 ZFP57 346171 broad.mit.edu 37 6 29640868 29640868 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:29640868C>T ENST00000376883.1 - 6 1371 c.960G>A c.(958-960)atG>atA p.M320I ZFP57_ENST00000488757.1_Missense_Mutation_p.M340I|ZFP57_ENST00000376881.3_Missense_Mutation_p.M320I Q9NU63 ZFP57_HUMAN ZFP57 zinc finger protein 256 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 GGTTCTGGGCCATAGGACCCT 0.557000 46 96 0 0 0.014410 0 0 KIAA1549 57670 broad.mit.edu 37 7 138591789 138591789 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:138591789G>A ENST00000440172.1 - 6 3384 c.3336C>T c.(3334-3336)atC>atT p.I1112I KIAA1549_ENST00000242365.4_Silent_p.I1062I|KIAA1549_ENST00000422774.1_Silent_p.I1112I NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 1112 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 CCGCAAAGATGATATTCACCG 0.438000 O BRAF pilocytic astrocytoma 9 23 0 0 0.008291 0 0 MAS1 4142 broad.mit.edu 37 6 160328631 160328631 + Missense_Mutation SNP G G A rs147542691 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:160328631G>A ENST00000252660.4 + 1 658 c.644G>A c.(643-645)cGg>cAg p.R215Q NM_002377.2 NP_002368.1 P04201 MAS_HUMAN MAS1 oncogene 215 anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade integral to plasma membrane angiotensin type II receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06) GTGAAGATCCGGAAGAACACG 0.493000 16 36 0 0 0.003163 0 0 HYDIN 54768 broad.mit.edu 37 16 70908764 70908764 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:70908764G>A ENST00000393567.2 - 63 10766 c.10616C>T c.(10615-10617)aCc>aTc p.T3539I NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3539 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GATATACGCGGTGGTGGGCCT 0.502000 7 11 0 0 0.003080 0 0 MTMR11 10903 broad.mit.edu 37 1 149901597 149901597 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:149901597G>A ENST00000439741.2 - 16 2109 c.1859C>T c.(1858-1860)cCa>cTa p.P620L MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.P548L|MTMR11_ENST00000406732.3_3'UTR NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 620 Myotubularin phosphatase. phosphatase activity p.P620L(1)|p.P548L(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) CAGCAGCCCTGGAGGTAAAGG 0.587000 26 76 0 0 0.003954 0 0 MROH9 80133 broad.mit.edu 37 1 170952613 170952613 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:170952613C>T ENST00000367759.4 + 9 821 c.667C>T c.(667-669)Cct>Tct p.P223S MROH9_ENST00000367758.3_Missense_Mutation_p.P223S NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 CCTCCAGTTTCCTTCTTCTGA 0.373000 9 26 0 0 0.013537 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128864230 128864230 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:128864230G>A ENST00000274487.4 + 6 1315 c.1170G>A c.(1168-1170)ggG>ggA p.G390G CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 390 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.G390G(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) TATATATTGGGCATCATGGAG 0.353000 7 27 0 0 0.008291 0 0 UBR3 130507 broad.mit.edu 37 2 170917834 170917834 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:170917834C>T ENST00000272793.5 + 35 4950 c.4900C>T c.(4900-4902)Cct>Tct p.P1634S UBR3_ENST00000392631.1_Missense_Mutation_p.P455S|UBR3_ENST00000418381.1_Missense_Mutation_p.P1634S Q6ZT12 UBR3_HUMAN ubiquitin protein ligase E3 component n-recognin 3 (putative) 1634 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1) 33 TTAGGTTAACCCTATTGCTTG 0.338000 27 77 0 0 0.007291 0 0 MGAM 8972 broad.mit.edu 37 7 141796206 141796206 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:141796206C>T ENST00000475668.2 + 65 7737 c.7683C>T c.(7681-7683)gtC>gtT p.V2561V MGAM_ENST00000549489.2_Silent_p.V1665V O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1665 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) TCAGCCCTGTCCTGGAGCGTG 0.597000 13 27 0 0 0.003163 0 0 IGHV3-72 28410 broad.mit.edu 37 14 107199206 107199206 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:107199206C>T ENST00000433072.2 - 0 162 GACCAAGCCTCCCCCAGACTC 0.582000 22 33 0 0 0.014323 0 0 MEGF8 1954 broad.mit.edu 37 19 42838218 42838218 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:42838218C>T ENST00000334370.4 + 3 1046 c.411C>T c.(409-411)ttC>ttT p.F137F MEGF8_ENST00000251268.6_Silent_p.F137F NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 137 CUB 1. integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) ACGCCTCATTCCGCTTCTCCC 0.662000 9 22 0 0 0.006214 0 0 ARSD 414 broad.mit.edu 37 X 2827940 2827940 + Missense_Mutation SNP G G C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:2827940G>C ENST00000381154.1 - 8 1291 c.1216C>G c.(1216-1218)Cga>Gga p.R406G NM_001669.3 NP_001660.2 P51689 ARSD_HUMAN arylsulfatase D 406 lysosome arylsulfatase activity|metal ion binding large_intestine(3)|lung(3) 6 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CCAATCACTCGGCCGGCCGGG 0.637000 9 17 0 0 0.006214 0 0 LOC440040 440040 broad.mit.edu 37 11 49597803 49597803 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:49597803C>T ENST00000527477.1 + 0 407 CTAAAACGGTCCTTCTGTTGA 0.493000 9 14 0 0 0.004482 0 0 LRRC73 221424 broad.mit.edu 37 6 43475013 43475013 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:43475013C>T ENST00000372441.1 - 6 1814 c.914G>A c.(913-915)gGa>gAa p.G305E NM_001012974.1 NP_001012992.1 Q5JTD7 CF154_HUMAN leucine rich repeat containing 73 305 GTCCCCTAGTCCTGACGTCAT 0.537000 OREG0017453 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 28 0 0 0.004482 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101576466 101576466 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:101576466C>T ENST00000310954.6 - 11 2118 c.1832G>A c.(1831-1833)cGg>cAg p.R611Q NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 611 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity p.R611L(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) GGCTAGGGACCGTTGTCTGTG 0.338000 24 104 0 0 0.007291 0 0 AGTR1 185 broad.mit.edu 37 3 148459740 148459740 + Silent SNP G G A rs1064535 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:148459740G>A ENST00000542281.1 + 4 1364 c.918G>A c.(916-918)ggG>ggA p.G306G AGTR1_ENST00000461609.1_Silent_p.G306G|AGTR1_ENST00000474935.1_Silent_p.G306G|AGTR1_ENST00000475347.1_Silent_p.G306G|AGTR1_ENST00000349243.3_Silent_p.G306G|AGTR1_ENST00000402260.1_Silent_p.G306G|AGTR1_ENST00000418473.2_Silent_p.G306G|AGTR1_ENST00000404754.2_Silent_p.G306G|AGTR1_ENST00000497524.1_Silent_p.G306G NM_031850.3 NP_114038.4 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 306 calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) GCTTTCTGGGGAAAAAATTTA 0.368000 24 16 0 0 0.014323 0 0 SAGE1 55511 broad.mit.edu 37 X 134990652 134990652 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:134990652C>T ENST00000535938.1 + 12 1484 c.1317C>T c.(1315-1317)caC>caT p.H439H SAGE1_ENST00000324447.3_Silent_p.H439H|SAGE1_ENST00000370709.3_Silent_p.H439H|SAGE1_ENST00000537770.1_Intron NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 439 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) CCGTCAATCACCATGTCCATG 0.418000 36 16 0 0 0.004289 0 0 PAPPA2 60676 broad.mit.edu 37 1 176709131 176709131 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:176709131C>T ENST00000367662.3 + 14 5114 c.3950C>T c.(3949-3951)tCa>tTa p.S1317L NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1317 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TATGGACTGTCATGCCAGCAT 0.408000 28 74 0 0 0.013726 0 0 PRMT7 54496 broad.mit.edu 37 16 68382290 68382290 + Missense_Mutation SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:68382290A>C ENST00000339507.5 + 14 2199 c.1369A>C c.(1369-1371)Aaa>Caa p.K457Q PRMT7_ENST00000348497.4_Intron|PRMT7_ENST00000449359.3_Missense_Mutation_p.K407Q|PRMT7_ENST00000441236.1_Missense_Mutation_p.K407Q Q9NVM4 ANM7_HUMAN protein arginine methyltransferase 7 457 cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) CATCATAGAGAAACGGCCGGA 0.428000 5 68 0 0 0.003080 0 0 SULF1 23213 broad.mit.edu 37 8 70501327 70501327 + Missense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:70501327G>T ENST00000260128.4 + 8 1402 c.685G>T c.(685-687)Gac>Tac p.D229Y SULF1_ENST00000419716.3_Missense_Mutation_p.D229Y|SULF1_ENST00000402687.4_Missense_Mutation_p.D229Y|SULF1_ENST00000458141.2_Missense_Mutation_p.D229Y NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 229 apoptosis|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)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) CGGCCCCGAGGACTCAGCCCC 0.493000 7 22 0.000157383 0.000170414 0.003080 1 0 NAP1L3 4675 broad.mit.edu 37 X 92927223 92927223 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:92927223G>A ENST00000373079.3 - 1 1344 c.1081C>T c.(1081-1083)Cat>Tat p.H361Y NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 361 nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 GGTAGAAAATGAAATTCAAAG 0.403000 20 6 0 0 0.010504 0 0 STAB1 23166 broad.mit.edu 37 3 52554946 52554946 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:52554946G>A ENST00000321725.6 + 55 5909 c.5833G>A c.(5833-5835)Ggc>Agc p.G1945S NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1945 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) CCTGGGCAGGGGCTGCCACCG 0.617000 22 31 0 0 0.010504 0 0 COL5A1 1289 broad.mit.edu 37 9 137619121 137619121 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:137619121C>T ENST00000371817.3 + 5 1078 c.664C>T c.(664-666)Cag>Tag p.Q222* NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 222 Laminin G-like.|TSP N-terminal. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GGGTGACATCCAGCAGCTGCT 0.567000 19 85 0 0 0.014323 0 0 SLC38A3 10991 broad.mit.edu 37 3 50253047 50253047 + RNA SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:50253047A>C ENST00000420502.1 + 0 598 Q99624 S38A3_HUMAN solute carrier family 38, member 3 cellular nitrogen compound metabolic process|sodium ion transport integral to plasma membrane antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity breast(1)|cervix(1)|endometrium(1)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615) L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117) AGCCCTGGCCATCACGCTCCA 0.632000 12 44 0 0 0.004007 0 0 LEFTY1 10637 broad.mit.edu 37 1 226075716 226075716 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:226075716G>A ENST00000432920.2 - 6 759 c.592C>T c.(592-594)Cct>Tct p.P198S LEFTY1_ENST00000272134.5_Silent_p.F89F|LEFTY1_ENST00000492457.1_5'UTR CCAACGCCAGGAACCTGCCGG 0.692000 7 36 0 0 0.008291 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62887172 62887172 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:62887172T>A ENST00000281156.4 - 2 415 c.137A>T c.(136-138)gAa>gTa p.E46V NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 46 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) ATACTTCTTTTCTTCGTCTTC 0.333000 11 18 0 0 0.010729 0 0 LOC286238 286238 broad.mit.edu 37 9 91262491 91262491 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:91262491C>T ENST00000418343.2 - 0 260 GAACACATTTCCAGGTCTCAG 0.398000 7 76 0 0 0.008291 0 0 SETBP1 26040 broad.mit.edu 37 18 42281671 42281671 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:42281671G>A ENST00000282030.5 + 2 656 c.360G>A c.(358-360)ttG>ttA p.L120L SETBP1_ENST00000426838.4_Silent_p.L120L NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 120 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CAAAGAATTTGGAGAACTATA 0.463000 Schinzel-Giedion syndrome 11 29 0 0 0.010729 0 0 CCL21 6366 broad.mit.edu 37 9 34709522 34709522 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:34709522C>T ENST00000259607.2 - 3 403 c.346G>A c.(346-348)Gga>Aga p.G116R CCL21_ENST00000378792.1_Missense_Mutation_p.G116R NM_002989.2 NP_002980.1 O00585 CCL21_HUMAN chemokine (C-C motif) ligand 21 116 C-terminal basic extension. activation of Rho GTPase activity|cell maturation|cell-cell signaling|dendritic cell chemotaxis|dendritic cell dendrite assembly|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|mesangial cell-matrix adhesion|negative regulation of leukocyte apoptosis|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of cell-matrix adhesion|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of filopodium assembly|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of myeloid dendritic cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of pseudopodium assembly|positive regulation of receptor-mediated endocytosis|release of sequestered calcium ion into cytosol|response to prostaglandin E stimulus|ruffle organization|T cell costimulation extracellular space CCR7 chemokine receptor binding|chemokine activity large_intestine(4) 4 all_epithelial(49;0.0899) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.173) GAGCCCTTTCCTTTCTTGCCA 0.597000 29 42 0 0 0.003755 0 0 NRP2 8828 broad.mit.edu 37 2 206608235 206608235 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:206608235G>A ENST00000360409.3 + 9 2391 c.1600G>A c.(1600-1602)Gac>Aac p.D534N NRP2_ENST00000355117.4_Missense_Mutation_p.D534N|NRP2_ENST00000357118.4_Missense_Mutation_p.D534N|NRP2_ENST00000417189.1_Missense_Mutation_p.D534N|NRP2_ENST00000540841.1_Missense_Mutation_p.D534N|NRP2_ENST00000272849.3_Missense_Mutation_p.D534N|NRP2_ENST00000357785.5_Missense_Mutation_p.D534N|NRP2_ENST00000540178.1_Missense_Mutation_p.D534N|NRP2_ENST00000412873.2_Missense_Mutation_p.D534N NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718.1|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 534 F5/8 type C 2. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 AAACGGCAAGGACTGGGAATA 0.542000 20 25 0 0 0.008871 0 0 RBL2 5934 broad.mit.edu 37 16 53476717 53476717 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:53476717C>T ENST00000262133.6 + 3 656 c.519C>T c.(517-519)atC>atT p.I173I NM_005611.3 NP_005602.3 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 173 cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 TTCAGGACATCTTTAAATACC 0.413000 65 127 0 0 0.014410 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187693180 187693180 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:187693180G>A ENST00000295131.2 - 9 1472 c.1433C>T c.(1432-1434)tCa>tTa p.S478L NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 478 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) TTTTGAATTTGAATTATCTAA 0.303000 11 27 0 0 0.010729 0 0 TTN 7273 broad.mit.edu 37 2 179612720 179612720 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179612720C>T ENST00000360870.5 - 46 14629 c.14407G>A c.(14407-14409)Gaa>Aaa p.E4803K TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 913 Ig-like 28. 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) TCTGTATATTCCTGTGTCCCA 0.483000 14 21 0 0 0.002450 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179318397 179318397 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:179318397G>A ENST00000356834.3 - 6 1063 c.1026C>T c.(1024-1026)ctC>ctT p.L342L TBC1D9B_ENST00000355235.3_Silent_p.L342L NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 342 GRAM 2. integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGGGTATGATGAGGTGGCAAG 0.597000 11 45 0 0 0.010729 0 0 GLRA3 8001 broad.mit.edu 37 4 175598361 175598361 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:175598361G>A ENST00000274093.3 - 7 1297 c.795C>T c.(793-795)ctC>ctT p.L265L GLRA3_ENST00000340217.5_Silent_p.L265L NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 265 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) TAACAATCAGGAGACTGGGAA 0.458000 9 11 0 0 0.004482 0 0 CRYBG3 131544 broad.mit.edu 37 3 97596413 97596413 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:97596413C>T ENST00000182096.4 + 1 595 c.531C>T c.(529-531)tcC>tcT p.S177S NM_153605.3 NP_705833.3 beta-gamma crystallin domain containing 3 breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2) 32 CTGTTTTATCCCTTCTCCAGT 0.468000 19 44 0 0 0.007413 0 0 BCHE 590 broad.mit.edu 37 3 165547537 165547537 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:165547537G>A ENST00000264381.3 - 2 1451 c.1285C>T c.(1285-1287)Cct>Tct p.P429S BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 429 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) TCCAAGGCAGGGCATATGAAA 0.433000 31 41 0 0 0.007291 0 0 NEDD4L 23327 broad.mit.edu 37 18 56056398 56056398 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:56056398C>T ENST00000456986.1 + 28 2866 c.2266C>T c.(2266-2268)Cac>Tac p.H756Y NEDD4L_ENST00000586263.1_Missense_Mutation_p.H849Y|NEDD4L_ENST00000456173.2_Missense_Mutation_p.H736Y|NEDD4L_ENST00000356462.6_Missense_Mutation_p.H813Y|NEDD4L_ENST00000256832.7_Missense_Mutation_p.H737Y|NEDD4L_ENST00000256830.9_Missense_Mutation_p.H773Y|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000400345.3_Missense_Mutation_p.H877Y|NEDD4L_ENST00000357895.5_Missense_Mutation_p.H869Y|NEDD4L_ENST00000435432.2_Missense_Mutation_p.H736Y|NEDD4L_ENST00000431212.2_Missense_Mutation_p.H756Y|NEDD4L_ENST00000382850.4_Missense_Mutation_p.H857Y NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 877 HECT. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 CTGCCCAAACCACCCCGTCAT 0.552000 8 12 0 0 0.003080 0 0 STAC 6769 broad.mit.edu 37 3 36545914 36545914 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:36545914G>A ENST00000273183.3 + 7 1096 c.796G>A c.(796-798)Gat>Aat p.D266N STAC_ENST00000457375.2_Missense_Mutation_p.D205N|STAC_ENST00000476388.1_3'UTR NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain 266 intracellular signal transduction cytoplasm|soluble fraction metal ion binding endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 TGGCACTGATGATTTCAGAGA 0.403000 17 24 0 0 0.012319 0 0 NUDCD1 84955 broad.mit.edu 37 8 110255462 110255462 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:110255462G>A ENST00000239690.4 - 10 1902 c.1528C>T c.(1528-1530)Ctt>Ttt p.L510F NUDCD1_ENST00000427660.2_Missense_Mutation_p.L481F NM_032869.3 NP_116258.2 Q96RS6 NUDC1_HUMAN NudC domain containing 1 510 breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1) 25 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;1.56e-12) CACTCACAAAGGGCTGCATAC 0.438000 43 127 0 0 0.007835 0 0 DNER 92737 broad.mit.edu 37 2 230312072 230312072 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:230312072G>A ENST00000341772.4 - 8 1580 c.1446C>T c.(1444-1446)tgC>tgT p.C482C NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 482 EGF-like 7. central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) CCACGCTGCGGCACGTGCCAT 0.562000 3 16 0 0 0.000602 0 0 CD93 22918 broad.mit.edu 37 20 23064991 23064991 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:23064991C>T ENST00000246006.4 - 1 1986 c.1839G>A c.(1837-1839)agG>agA p.R613R NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 613 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) TCTTCTCCTCCCTCTTCGCTC 0.567000 31 102 0 0 0.012213 0 0 INMT-FAM188B 100526825 broad.mit.edu 37 7 30793422 30793422 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:30793422C>T ENST00000458257.1 + 2 241 c.227C>T c.(226-228)tCc>tTc p.S76F INMT_ENST00000013222.5_Missense_Mutation_p.S77F|INMT_ENST00000484180.1_3'UTR|INMT_ENST00000409539.1_Missense_Mutation_p.S76F GCCTGTGATTCCTTCCAAGAC 0.567000 107 177 0 0 0.014410 0 0 CDK18 5129 broad.mit.edu 37 1 205494284 205494284 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:205494284G>A ENST00000360066.2 + 5 718 c.417G>A c.(415-417)ggG>ggA p.G139G CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Silent_p.G139G|CDK18_ENST00000506784.1_Silent_p.G169G NM_002596.3|NM_212502.2|NM_212503.2 NP_002587.2|NP_997667.1|NP_997668.1 Q07002 CDK18_HUMAN cyclin-dependent kinase 18 137 ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 TTGGCTTTGGGAAACTGGAAA 0.547000 9 27 0 0 0.003163 0 0 RIT2 6014 broad.mit.edu 37 18 40695475 40695475 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:40695475C>T ENST00000589109.1 - 1 181 c.10G>A c.(10-12)Gaa>Aaa p.E4K RIT2_ENST00000590910.1_Missense_Mutation_p.E4K|RIT2_ENST00000326695.5_Missense_Mutation_p.E4K|RIT2_ENST00000282028.4_Missense_Mutation_p.E4K NM_001272077.1 NP_001259006.1 Q99578 RIT2_HUMAN Ras-like without CAAX 2 4 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity p.E4K(1) endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GCTTCATTTTCTACCTCCATC 0.517000 14 58 0 0 0.003163 0 0 TNNT2 7139 broad.mit.edu 37 1 201332529 201332529 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:201332529C>T ENST00000509001.1 - 11 751 c.465G>A c.(463-465)gaG>gaA p.E155E TNNT2_ENST00000367322.1_Silent_p.E155E|TNNT2_ENST00000367317.4_Silent_p.E155E|TNNT2_ENST00000367318.5_Silent_p.E155E|TNNT2_ENST00000367315.2_Silent_p.E155E|TNNT2_ENST00000458432.2_Silent_p.E167E|TNNT2_ENST00000460780.1_5'UTR|TNNT2_ENST00000367320.2_Silent_p.E125E|TNNT2_ENST00000421663.2_Silent_p.E157E|TNNT2_ENST00000360372.4_Silent_p.E150E|TNNT2_ENST00000236918.7_Silent_p.E160E NM_001276347.1 NP_001263276.1 P45379 TNNT2_HUMAN troponin T type 2 (cardiac) 165 ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|tropomyosin binding|troponin C binding|troponin I binding breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9) 20 GTCGAGCCCTCTCTTCCTGAT 0.507000 45 81 0 0 0.011902 0 0 SYT4 6860 broad.mit.edu 37 18 40850576 40850576 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:40850576C>T ENST00000255224.3 - 4 1376 c.1008G>A c.(1006-1008)aaG>aaA p.K336K SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.K318K NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 336 C2 2. 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 TGGAGATTCTCTTTTTGGCAT 0.428000 14 45 0 0 0.002450 0 0 EPHA7 2045 broad.mit.edu 37 6 93979305 93979305 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:93979305C>T ENST00000369303.4 - 7 1707 c.1523G>A c.(1522-1524)gGa>gAa p.G508E NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 508 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) ATACACTGTTCCTGGTTTCAG 0.393000 24 44 0 0 0.003330 0 0 ASTL 431705 broad.mit.edu 37 2 96789975 96789975 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:96789975G>A ENST00000342380.2 - 9 909 c.910C>T c.(910-912)Ccg>Tcg p.P304S NM_001002036.3 NP_001002036.3 Q6HA08 ASTL_HUMAN astacin-like metallo-endopeptidase (M12 family) 304 proteolysis metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30 AGGGAGGCCGGAGCGGGGCTC 0.637000 8 14 0 0 0.004482 0 0 FAM47A 158724 broad.mit.edu 37 X 34149783 34149783 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:34149783C>T ENST00000346193.3 - 1 664 c.613G>A c.(613-615)Gag>Aag p.E205K NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 205 Pro-rich. 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 ACTCCAGTCTCGGGAGGCTCT 0.627000 22 12 0 0 0.003330 0 0 ADCY8 114 broad.mit.edu 37 8 131792772 131792772 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:131792772C>T ENST00000286355.5 - 18 5712 c.3620G>A c.(3619-3621)aGg>aAg p.R1207K ADCY8_ENST00000377928.3_Missense_Mutation_p.R1076K NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 1207 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|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CTGCTTCTGCCTTTGCCTATT 0.557000 HNSCC(32;0.087) 19 55 0 0 0.006122 0 0 DACH1 1602 broad.mit.edu 37 13 72063191 72063191 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:72063191G>A ENST00000305425.4 - 7 2088 c.1666C>T c.(1666-1668)Cca>Tca p.P556S DACH1_ENST00000354591.4_Missense_Mutation_p.P354S|DACH1_ENST00000359684.2_Missense_Mutation_p.P608S|DACH1_ENST00000313174.7_Missense_Mutation_p.P408S NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 606 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) AAAGGAGATGGAAAACCTGGA 0.468000 58 80 0 0 0.014410 0 0 NCR2 9436 broad.mit.edu 37 6 41303840 41303840 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:41303840C>T ENST00000373083.4 + 2 290 c.68C>T c.(67-69)tCc>tTc p.S23F NCR2_ENST00000373086.3_Missense_Mutation_p.S23F|NCR2_ENST00000373089.5_Missense_Mutation_p.S23F NM_001199510.1 NP_001186439.1 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 23 Ig-like. cellular defense response integral to plasma membrane transmembrane receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) CAGGCACAATCCAAGGCTCAG 0.577000 13 24 0 0 0.003163 0 0 ELTD1 64123 broad.mit.edu 37 1 79358832 79358832 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:79358832G>A ENST00000370742.3 - 13 1855 c.1792C>T c.(1792-1794)Cgt>Tgt p.R598C NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 598 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.R598C(1) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) GCAGTGTGACGAAAAACTTTG 0.299000 18 24 0 0 0.012319 0 0 COL21A1 81578 broad.mit.edu 37 6 56044907 56044907 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:56044907C>T ENST00000244728.5 - 3 506 c.109G>A c.(109-111)Gat>Aat p.D37N COL21A1_ENST00000370819.1_Missense_Mutation_p.D37N|COL21A1_ENST00000535941.1_Missense_Mutation_p.D37N NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 37 VWFA. 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) AAAACTAAATCTGTCGGAGCA 0.333000 11 18 0 0 0.008291 0 0 TGM3 7053 broad.mit.edu 37 20 2321170 2321170 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:2321170C>T ENST00000381458.5 + 13 2088 c.2025C>T c.(2023-2025)ttC>ttT p.F675F NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 675 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) TCGCCGACTTCTCCTGCAACA 0.602000 23 52 0 0 0.014323 0 0 DUS2 54920 broad.mit.edu 37 16 68108047 68108047 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:68108047C>T ENST00000565263.1 + 13 1415 c.921C>T c.(919-921)tcC>tcT p.S307S DUS2L_ENST00000432752.1_Silent_p.S272S|DUS2L_ENST00000358896.6_Silent_p.S307S NM_017803.3 NP_060273.1 Q9NX74 DUS2L_HUMAN 307 tRNA processing endoplasmic reticulum double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564) CCCAGTCTTCCCGGGAAATTT 0.527000 15 23 0 0 0.003163 0 0 TRIM37 4591 broad.mit.edu 37 17 57134354 57134354 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:57134354G>A ENST00000376149.3 - 13 1524 c.715C>T c.(715-717)Cga>Tga p.R239* TRIM37_ENST00000262294.7_Nonsense_Mutation_p.R361*|TRIM37_ENST00000393066.3_Nonsense_Mutation_p.R361*|TRIM37_ENST00000393065.2_Nonsense_Mutation_p.R327* O94972 TRI37_HUMAN tripartite motif containing 37 361 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Medulloblastoma(34;0.0922)|all_neural(34;0.101) GCAAATTCTCGAATGATATTT 0.343000 Mulibrey Nanism 22 14 0 0 0.014323 0 0 C10orf129 142827 broad.mit.edu 37 10 96967012 96967012 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:96967012C>T ENST00000341686.3 + 4 576 c.451C>T c.(451-453)Cgc>Tgc p.R151C C10orf129_ENST00000430183.1_5'UTR|C10orf129_ENST00000394005.3_Missense_Mutation_p.R151C NM_207321.2 NP_997204.2 Q6P461 ACSM6_HUMAN chromosome 10 open reading frame 129 151 fatty acid metabolic process mitochondrion ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 Colorectal(252;0.083) Epithelial(162;1.64e-06)|all cancers(201;3.71e-05) CAAGAAAATTCGCTATCAATT 0.458000 7 27 0 0 0.004482 0 0 CDH18 1016 broad.mit.edu 37 5 19571923 19571923 + Missense_Mutation SNP T T G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:19571923T>G ENST00000507958.1 - 10 2008 c.1018A>C c.(1018-1020)Aag>Cag p.K340Q CDH18_ENST00000382275.1_Missense_Mutation_p.K340Q|CDH18_ENST00000274170.4_Missense_Mutation_p.K340Q|CDH18_ENST00000511273.1_Missense_Mutation_p.K340Q|CDH18_ENST00000506372.1_Missense_Mutation_p.K340Q|CDH18_ENST00000502796.1_Missense_Mutation_p.K340Q Q13634 CAD18_HUMAN cadherin 18, type 2 340 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TATGACTTCTTTTTCTCATAG 0.308000 9 21 0 0 0.010729 0 0 PTPRB 5787 broad.mit.edu 37 12 70954499 70954499 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:70954499T>C ENST00000334414.6 - 17 4428 c.4384A>G c.(4384-4386)Act>Gct p.T1462A PTPRB_ENST00000451516.2_Missense_Mutation_p.T1154A|PTPRB_ENST00000550358.1_Missense_Mutation_p.T1374A|PTPRB_ENST00000551525.1_Missense_Mutation_p.T1461A|PTPRB_ENST00000261266.5_Missense_Mutation_p.T1244A|PTPRB_ENST00000550857.1_Missense_Mutation_p.T1154A|PTPRB_ENST00000538708.1_Missense_Mutation_p.T1154A NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1244 Fibronectin type-III 17. 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) CCACTGTGAGTTACCACCCAC 0.527000 29 9 0 0 0.012213 0 0 FER1L6 654463 broad.mit.edu 37 8 125015487 125015487 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:125015487C>T ENST00000522917.1 + 13 1806 c.1600C>T c.(1600-1602)Cca>Tca p.P534S FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P534S NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 534 integral to membrane 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) AGACCTCCTTCCACTGCTTCA 0.527000 28 36 0 0 0.005443 0 0 SYCP1 6847 broad.mit.edu 37 1 115420732 115420732 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:115420732C>T ENST00000369522.3 + 12 1059 c.819C>T c.(817-819)atC>atT p.I273I SYCP1_ENST00000369518.1_Silent_p.I273I NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 273 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) 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) TACTATTGATCCAAATCACTG 0.239000 9 27 0 0 0.004482 0 0 PWWP2A 114825 broad.mit.edu 37 5 159520234 159520234 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:159520234G>A ENST00000456329.3 - 2 1457 c.1423C>T c.(1423-1425)Cgt>Tgt p.R475C PWWP2A_ENST00000307063.7_Missense_Mutation_p.R475C|PWWP2A_ENST00000523662.1_Missense_Mutation_p.R475C NM_052927.2 NP_443159.1 Q96N64 PWP2A_HUMAN PWWP domain containing 2A 475 kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGTTTTAAACGAACCCGGGGT 0.458000 10 15 0 0 0.008291 0 0 RRN3 54700 broad.mit.edu 37 16 15168609 15168609 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:15168609G>A ENST00000198767.6 - 11 1051 c.968C>T c.(967-969)tCc>tTc p.S323F PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000327307.7_Missense_Mutation_p.S290F|RRN3_ENST00000540462.1_Missense_Mutation_p.S141F|RRN3_ENST00000563559.1_Missense_Mutation_p.S323F|RRN3_ENST00000429751.2_Missense_Mutation_p.S293F NM_018427.3 NP_060897.3 Q9NYV6 RRN3_HUMAN RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) 323 regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2) 20 CTTCATGTAGGACAAAACCAA 0.478000 6 20 0 0 0.001168 0 0 PHC3 80012 broad.mit.edu 37 3 169896716 169896716 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:169896716G>A ENST00000495893.1 - 2 56 c.25C>T c.(25-27)Cat>Tat p.H9Y PHC3_ENST00000474275.1_5'UTR|PHC3_ENST00000467570.1_Missense_Mutation_p.H9Y|PHC3_ENST00000497658.1_Missense_Mutation_p.H9Y|PHC3_ENST00000481639.1_Missense_Mutation_p.H9Y|PHC3_ENST00000494943.1_5'UTR NM_024947.3 NP_079223.3 Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 0 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GCTGTACTATGGTCCTTAAAT 0.413000 47 151 0 0 0.014410 0 0 CALU 813 broad.mit.edu 37 7 128409143 128409143 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:128409143C>T ENST00000535011.2 + 6 822 c.670C>T c.(670-672)Cgt>Tgt p.R224C CALU_ENST00000249364.4_Silent_p.I290I|CALU_ENST00000538546.1_Silent_p.I139I|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000542996.2_Silent_p.I298I|CALU_ENST00000479257.1_Silent_p.I298I|CALU_ENST00000449187.2_Silent_p.I290I NM_001199673.1 NP_001186602.1 O43852 CALU_HUMAN calumenin 0 platelet activation|platelet degranulation extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen calcium ion binding|protein binding kidney(2)|large_intestine(3)|lung(5) 10 AGGAGGAGATCGTTGACAAGT 0.423000 16 28 0 0 0.004007 0 0 NCOA5 57727 broad.mit.edu 37 20 44690967 44690967 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:44690967G>A ENST00000290231.6 - 8 1876 c.1712C>T c.(1711-1713)cCc>cTc p.P571L NM_020967.2 NP_066018.1 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 571 Transcription activation. regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) AGATCCCATGGGGGCCTGTGG 0.552000 6 42 0 0 0.003080 0 0 MUC2 4583 broad.mit.edu 37 11 1087466 1087466 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:1087466G>A ENST00000441003.2 + 24 3244 c.3217G>A c.(3217-3219)Gag>Aag p.E1073K MUC2_ENST00000359061.5_Missense_Mutation_p.E1073K NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1073 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GCCCTTCTACGAGGCCTGTGT 0.647000 10 24 0 0 0.001855 0 0 PDZK1 5174 broad.mit.edu 37 1 145747241 145747241 + Missense_Mutation SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:145747241A>C ENST00000344770.2 + 2 271 c.198A>C c.(196-198)gaA>gaC p.E66D PDZK1_ENST00000417171.1_Missense_Mutation_p.E66D|PDZK1_ENST00000451928.2_Missense_Mutation_p.E66D NM_002614.4 NP_002605.2 Q5T2W1 NHRF3_HUMAN PDZ domain containing 1 66 PDZ 1. carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport brush border membrane|cytoplasm PDZ domain binding|transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1) 7 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) TGGACAAAGAAGAACATATGC 0.478000 21 69 0 0 0.012319 0 0 PLCH1 23007 broad.mit.edu 37 3 155199371 155199371 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:155199371A>G ENST00000460012.1 - 23 4711 c.4354T>C c.(4354-4356)Tgc>Cgc p.C1452R PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Missense_Mutation_p.C1490R|PLCH1_ENST00000414191.1_Missense_Mutation_p.C1452R|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.C1452R Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1490 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TTGGATTTGCAAGGACTAGGC 0.463000 21 29 0 0 0.008871 0 0 SLC6A1 6529 broad.mit.edu 37 3 11059648 11059648 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:11059648C>T ENST00000287766.4 + 4 779 c.358C>T c.(358-360)Cct>Tct p.P120S SLC6A1_ENST00000536032.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 120 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) GAAGCTGGCTCCTATGTTCAA 0.602000 44 100 0 0 0.014410 0 0 AK8 158067 broad.mit.edu 37 9 135704092 135704092 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:135704092G>A ENST00000298545.3 - 6 945 c.424C>T c.(424-426)Cct>Tct p.P142S AK8_ENST00000477396.1_5'UTR NM_152572.2 NP_689785.1 Q96MA6 KAD8_HUMAN adenylate kinase 8 142 cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2) 23 CGCGTCTCAGGGATGCCATCC 0.493000 3 17 0 0 0.004672 0 0 XDH 7498 broad.mit.edu 37 2 31596751 31596751 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:31596751G>A ENST00000379416.3 - 16 1722 c.1674C>T c.(1672-1674)gtC>gtT p.V558V NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 558 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GGAAGAGCTGGACATCGGCTG 0.502000 5 19 0 0 0.001168 0 0 AK7 122481 broad.mit.edu 37 14 96949428 96949428 + Missense_Mutation SNP G G A rs115365090 by1000genomes TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:96949428G>A ENST00000267584.4 + 16 1890 c.1846G>A c.(1846-1848)Gaa>Aaa p.E616K NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 616 Glu-rich. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) TTTAACAGACGAAGAAAAGGC 0.512000 25 44 0 0 0.003954 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24261589 24261589 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:24261589C>T ENST00000538205.1 + 14 1704 c.1157C>T c.(1156-1158)cCa>cTa p.P386L RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.P465L|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.P386L|RP11-624C23.1_ENST00000519689.1_RNA NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 465 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) GGAGATGCTCCAAACCATACC 0.408000 5 33 0 0 0.000602 0 0 TNPO2 30000 broad.mit.edu 37 19 12822379 12822379 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:12822379G>A ENST00000425528.1 - 11 1296 c.939C>T c.(937-939)atC>atT p.I313I TNPO2_ENST00000450764.2_Silent_p.I313I|TNPO2_ENST00000356861.5_Silent_p.I313I|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000588216.1_Silent_p.I313I|TNPO2_ENST00000441499.1_Silent_p.I313I|TNPO2_ENST00000592287.1_Silent_p.I313I O14787 TNPO2_HUMAN transportin 2 313 intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TGAGCAGGATGATGTCAATTT 0.577000 12 26 0 0 0.010729 0 0 LMO7 4008 broad.mit.edu 37 13 76407271 76407271 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:76407271C>T ENST00000357063.3 + 17 4450 c.3190C>T c.(3190-3192)Cct>Tct p.P1064S LMO7_ENST00000321797.8_Missense_Mutation_p.P779S|LMO7_ENST00000377534.3_Missense_Mutation_p.P1064S|LMO7_ENST00000341547.4_Missense_Mutation_p.P730S|LMO7_ENST00000465261.2_Missense_Mutation_p.P779S|LMO7_ENST00000526202.1_Missense_Mutation_p.P629S Q8WWI1 LMO7_HUMAN LIM domain 7 1064 PDZ. cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) ATGGGATATTCCTGGGATCTT 0.403000 4 25 0 0 0.001168 0 0 MANBA 4126 broad.mit.edu 37 4 103610769 103610769 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:103610769C>T ENST00000226578.4 - 7 1021 c.922G>A c.(922-924)Gaa>Aaa p.E308K MANBA_ENST00000505239.1_Missense_Mutation_p.E251K NM_005908.3 NP_005899.3 O00462 MANBA_HUMAN mannosidase, beta A, lysosomal 308 carbohydrate metabolic process|protein modification process lysosome beta-mannosidase activity|cation binding cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;4.44e-08) CCATCCAGTTCAAAAAGAACA 0.284000 31 25 0 0 0.004878 0 0 MROH9 80133 broad.mit.edu 37 1 170964595 170964595 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:170964595C>T ENST00000367759.4 + 13 1414 c.1260C>T c.(1258-1260)ttC>ttT p.F420F MROH9_ENST00000367758.3_Silent_p.F420F NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 CCCAGTATTTCCCCCAGCTCT 0.468000 29 52 0 0 0.009535 0 0 CDH13 1012 broad.mit.edu 37 16 83065795 83065795 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:83065795G>A ENST00000566620.1 + 3 628 c.338G>A c.(337-339)gGg>gAg p.G113E CDH13_ENST00000268613.10_Missense_Mutation_p.G160E|CDH13_ENST00000431540.3_Missense_Mutation_p.G113E|CDH13_ENST00000446376.2_Missense_Mutation_p.G113E|CDH13_ENST00000428848.3_Missense_Mutation_p.G113E|CDH13_ENST00000565636.1_Missense_Mutation_p.G113E|CDH13_ENST00000569454.1_3'UTR 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 13 113 G -> R (in a patient with amyotrophic lateral sclerosis). 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) GTGATTGTCGGGGGGAAAGAC 0.493000 6 18 0 0 0.001984 0 0 P4HA3 283208 broad.mit.edu 37 11 74013577 74013577 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:74013577C>T ENST00000331597.4 - 3 449 c.404G>A c.(403-405)gGa>gAa p.G135E P4HA3_ENST00000427714.2_Missense_Mutation_p.G135E NM_182904.3 NP_878907.1 Q7Z4N8 P4HA3_HUMAN prolyl 4-hydroxylase, alpha polypeptide III 135 endoplasmic reticulum lumen 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 NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1) 15 Breast(11;2.31e-05) CCTTGCTGCTCCCTCAAGGTC 0.517000 25 72 0 0 0.007291 0 0 ZNF284 342909 broad.mit.edu 37 19 44585252 44585252 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:44585252C>T ENST00000421176.3 + 3 316 c.100C>T c.(100-102)Cga>Tga p.R34* ZNF223_ENST00000591793.1_3'UTR NM_001037813.2 NP_001032902.1 Q2VY69 ZN284_HUMAN zinc finger protein 284 34 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0435) GAAGCTGTATCGAGATGTCAT 0.532000 38 69 0 0 0.005524 0 0 OTOL1 131149 broad.mit.edu 37 3 161214915 161214915 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:161214915C>T ENST00000327928.4 + 1 320 c.320C>T c.(319-321)cCt>cTt p.P107L NM_001080440.1 NP_001073909.1 A6NHN0 OTOL1_HUMAN otolin 1 107 collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 TGTTGTTCACCTGTACCCGGG 0.438000 26 78 0 0 0.004656 0 0 C6orf58 352999 broad.mit.edu 37 6 127898343 127898343 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:127898343C>T ENST00000329722.7 + 1 25 c.13C>T c.(13-15)Cct>Tct p.P5S C6orf58_ENST00000498112.1_Intron NM_001010905.1 NP_001010905.1 Q6P5S2 CF058_HUMAN chromosome 6 open reading frame 58 5 extracellular region kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1) 15 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) GGCTTTTCTTCCTTCCTGGGT 0.488000 6 42 0 0 0.001168 0 0 ACSM2A 123876 broad.mit.edu 37 16 20491904 20491904 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:20491904G>A ENST00000573854.1 + 11 1405 c.1291G>A c.(1291-1293)Gac>Aac p.D431N ACSM2A_ENST00000575690.1_Missense_Mutation_p.D431N|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Missense_Mutation_p.D352N|ACSM2A_ENST00000536134.1_Missense_Mutation_p.D203N|ACSM2A_ENST00000396104.2_Missense_Mutation_p.D431N|ACSM2A_ENST00000219054.6_Missense_Mutation_p.D431N NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 431 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 GGACAATCCCGACAAGACAGC 0.493000 42 59 0 0 0.014410 0 0 SSUH2 51066 broad.mit.edu 37 3 8675454 8675454 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:8675454G>A ENST00000317371.4 - 11 1396 c.171C>T c.(169-171)gcC>gcT p.A57A SSUH2_ENST00000415132.1_Silent_p.A57A|SSUH2_ENST00000341795.3_Silent_p.A57A|SSUH2_ENST00000544814.1_Silent_p.A79A ssu-2 homolog (C. elegans) GGGCTTCCCGGGCCACCTCCT 0.657000 4 45 0 0 0.009096 0 0 CKM 1158 broad.mit.edu 37 19 45822867 45822867 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:45822867G>A ENST00000221476.3 - 2 279 c.105C>T c.(103-105)acC>acT p.T35T NM_001824.4 NP_001815.2 P06732 KCRM_HUMAN creatine kinase, muscle 35 Phosphagen kinase N-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2) 17 Ovarian(192;0.0336)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07) Creatine(DB00148) AGAGTTCAAGGGTCAGTACCT 0.522000 37 71 0 0 0.005524 0 0 NLRP14 338323 broad.mit.edu 37 11 7063913 7063913 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:7063913G>A ENST00000299481.4 + 4 1002 c.656G>A c.(655-657)aGa>aAa p.R219K NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 219 NACHT. 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) CTCAATGGGAGAGAAATTAAC 0.443000 26 47 0 0 0.003330 0 0 OR2T2 401992 broad.mit.edu 37 1 248616379 248616379 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:248616379C>T ENST00000342927.3 + 1 303 c.281C>T c.(280-282)tCc>tTc p.S94F NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 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) AAGACCATTTCCTTCCTGGGC 0.522000 36 191 0 0 0.007835 0 0 ANXA10 11199 broad.mit.edu 37 4 169086397 169086397 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:169086397G>A ENST00000359299.3 + 6 586 c.e6-1 NM_007193.4 NP_009124.2 Q9UJ72 ANX10_HUMAN annexin A10 calcium ion binding|calcium-dependent phospholipid binding endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2) 16 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0325) TTCTTATACAGAATACAGCAA 0.348000 16 8 0 0 0.004990 0 0 DCC 1630 broad.mit.edu 37 18 50278677 50278677 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:50278677C>T ENST00000442544.2 + 2 961 c.345C>T c.(343-345)taC>taT p.Y115Y DCC_ENST00000412726.1_5'UTR NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 115 Ig-like C2-type 1. 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) AGGGACTTTACCAATGTGAGG 0.453000 30 69 0 0 0.003755 0 0 CPB1 1360 broad.mit.edu 37 3 148552288 148552288 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:148552288G>A ENST00000491148.1 + 4 485 c.151G>A c.(151-153)Gac>Aac p.D51N CPB1_ENST00000282957.4_Missense_Mutation_p.D51N P15086 CBPB1_HUMAN carboxypeptidase B1 (tissue) 51 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 38 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TATTCAGATTGACTTCTGGAA 0.363000 9 17 0 0 0.010729 0 0 DEFA6 1671 broad.mit.edu 37 8 6782404 6782404 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:6782404G>A ENST00000297436.2 - 2 279 c.239C>T c.(238-240)tCa>tTa p.S80L NM_001926.3 NP_001917.1 Q01524 DEF6_HUMAN defensin, alpha 6, Paneth cell-specific 80 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space lung(4) 4 STAD - Stomach adenocarcinoma(24;0.0322) COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) ATATTCTGTTGAATAACAGGA 0.468000 21 44 0 0 0.003330 0 0 GRAMD2 196996 broad.mit.edu 37 15 72455780 72455780 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:72455780C>T ENST00000309731.7 - 10 796 c.783G>A c.(781-783)ggG>ggA p.G261G GRAMD2_ENST00000564184.1_5'UTR NM_001012642.2 NP_001012660.1 Q8IUY3 GRAM2_HUMAN GRAM domain containing 2 261 integral to membrane cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 13 ATGCCCACCTCCCACCATTTT 0.527000 10 104 0 0 0.001855 0 0 RNF126 55658 broad.mit.edu 37 19 648902 648902 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:648902G>A ENST00000292363.5 - 7 805 c.650C>T c.(649-651)cCc>cTc p.P217L NM_194460.2 NP_919442.1 Q9BV68 RN126_HUMAN ring finger protein 126 217 protein binding|zinc ion binding lung(1) 1 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTCAGTGACGGGGACGGTGGG 0.567000 10 26 0 0 0.006214 0 0 ADAM22 53616 broad.mit.edu 37 7 87792332 87792332 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:87792332G>A ENST00000398204.4 + 23 2236 c.1913G>A c.(1912-1914)gGg>gAg p.G638E ADAM22_ENST00000398201.4_Missense_Mutation_p.G638E|ADAM22_ENST00000315984.7_Missense_Mutation_p.G638E|ADAM22_ENST00000398209.3_Missense_Mutation_p.G638E|ADAM22_ENST00000265727.7_Missense_Mutation_p.G638E NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 638 Cys-rich. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) TTTAGTGGTGGGCATGTTAAG 0.383000 17 70 0 0 0.006122 0 0 PCDHB1 29930 broad.mit.edu 37 5 140431463 140431463 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140431463G>A ENST00000306549.3 + 1 485 c.408G>A c.(406-408)aaG>aaA p.K136K NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 136 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCTAAACAAGGAGCCGCTTT 0.532000 6 20 0 0 0.001168 0 0 CFHR3 10878 broad.mit.edu 37 1 196762596 196762596 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:196762596C>T ENST00000367425.4 + 6 1038 c.946C>T c.(946-948)Caa>Taa p.Q316* CFHR3_ENST00000391985.3_Nonsense_Mutation_p.Q255* NM_021023.5 NP_066303.2 complement factor H-related 3 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 TCTATCATTTCAAGCAGTGTG 0.373000 16 53 0 0 0.007413 0 0 SEC14L5 9717 broad.mit.edu 37 16 5053504 5053504 + Missense_Mutation SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:5053504A>C ENST00000251170.7 + 11 1412 c.1232A>C c.(1231-1233)aAt>aCt p.N411T NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 411 CRAL-TRIO. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 GTTGAGGACAATTACCCAGAG 0.642000 15 62 0 0 0.002450 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128843156 128843156 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:128843156C>T ENST00000310343.9 - 21 3202 c.3203G>A c.(3202-3204)gGg>gAg p.G1068E ARHGAP32_ENST00000527272.1_Missense_Mutation_p.G719E|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.G719E NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 1068 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 ATTTGTATACCCAGCCTGAGA 0.478000 12 122 0 0 0.001855 0 0 PHACTR2 9749 broad.mit.edu 37 6 144093564 144093564 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:144093564G>A ENST00000427704.2 + 7 1499 c.1369G>A c.(1369-1371)Gaa>Aaa p.E457K PHACTR2_ENST00000440869.2_Missense_Mutation_p.E468K|PHACTR2_ENST00000367584.4_Missense_Mutation_p.E445K|PHACTR2_ENST00000305766.6_Missense_Mutation_p.E377K|PHACTR2_ENST00000367582.3_Missense_Mutation_p.E388K NM_001100166.1|NM_014721.2 NP_001093636.1|NP_055536.2 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 457 actin binding|protein phosphatase inhibitor activity NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) TGATGAGGACGAAGACGAAGA 0.483000 8 17 0 0 0.006214 0 0 MTUS2 23281 broad.mit.edu 37 13 29601010 29601010 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:29601010C>T ENST00000431530.3 + 1 2263 c.2205C>T c.(2203-2205)ttC>ttT p.F735F NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 725 Mediates interaction with MAPRE1. 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 GACATCCTTTCAGTCAAATGA 0.433000 6 36 0 0 0.004482 0 0 VPS13C 54832 broad.mit.edu 37 15 62256067 62256067 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:62256067C>T ENST00000261517.5 - 32 3371 c.3298G>A c.(3298-3300)Gaa>Aaa p.E1100K VPS13C_ENST00000395898.3_Missense_Mutation_p.E1057K|VPS13C_ENST00000395896.4_Missense_Mutation_p.E1100K|VPS13C_ENST00000249837.3_Missense_Mutation_p.E1057K NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1100 protein localization p.E1100K(1) NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TTGTTCTTTTCGTTGCAAACA 0.348000 12 17 0 0 0.010729 0 0 ADH1B 125 broad.mit.edu 37 4 100239334 100239334 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:100239334G>A ENST00000305046.8 - 3 195 c.128C>T c.(127-129)gCt>gTt p.A43V ADH1B_ENST00000394887.3_Missense_Mutation_p.A3V|ADH1B_ENST00000504498.1_5'UTR P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 43 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) GATTCCTACAGCCACCATCTA 0.438000 32 39 0 0 0.003271 0 0 FLG2 388698 broad.mit.edu 37 1 152326848 152326848 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:152326848G>A ENST00000388718.5 - 3 3486 c.3414C>T c.(3412-3414)tcC>tcT p.S1138S FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1138 Ser-rich. calcium ion binding|structural molecule activity p.S1138S(1) 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) CAAAGCCAGAGGATTTACCTG 0.532000 63 105 0 0 0.014410 0 0 KRT75 9119 broad.mit.edu 37 12 52827609 52827609 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:52827609G>A ENST00000252245.5 - 1 700 c.480C>T c.(478-480)ttC>ttT p.F160F NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 160 Coil 1A.|Rod. keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) TGAAGGAGGCGAACTTATTGT 0.562000 44 51 0 0 0.014410 0 0 ZNF566 84924 broad.mit.edu 37 19 36940123 36940123 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:36940123G>A ENST00000454319.1 - 5 1150 c.1016C>T c.(1015-1017)cCt>cTt p.P339L ZNF566_ENST00000424129.2_Missense_Mutation_p.P338L|ZNF566_ENST00000434377.2_Missense_Mutation_p.P338L|ZNF566_ENST00000392170.2_Missense_Mutation_p.P339L|ZNF566_ENST00000493391.1_Missense_Mutation_p.P234L NM_001145343.1|NM_001145344.1|NM_001145345.1 NP_001138815.1|NP_001138816.1|NP_001138817.1 Q969W8 ZN566_HUMAN zinc finger protein 566 338 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Esophageal squamous(110;0.162) ACATTCGTAAGGTTTCTCACC 0.393000 12 31 0 0 0.010729 0 0 ADARB2 105 broad.mit.edu 37 10 1279754 1279754 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:1279754G>A ENST00000381312.1 - 6 1720 c.1395C>T c.(1393-1395)ttC>ttT p.F465F ADARB2_ENST00000469464.1_5'UTR NM_018702.3 NP_061172.1 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 (non-functional) 465 A to I editase. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) TTAACCGCACGAATATCGATC 0.527000 12 22 0 0 0.013537 0 0 VCAN 1462 broad.mit.edu 37 5 82833764 82833764 + Missense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:82833764G>T ENST00000265077.3 + 8 5507 c.4942G>T c.(4942-4944)Gat>Tat p.D1648Y VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.D661Y|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1648 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AGCAGAAGAAGATGAAGATAC 0.398000 11 20 3.86212e-05 4.18866e-05 0.008291 1 0 PAPPA2 60676 broad.mit.edu 37 1 176664920 176664920 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:176664920C>T ENST00000367662.3 + 7 3835 c.2671C>T c.(2671-2673)Cgt>Tgt p.R891C NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 891 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGGGACCTTTCGTCAGTATGT 0.532000 19 55 0 0 0.014323 0 0 PSD 5662 broad.mit.edu 37 10 104176737 104176737 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:104176737C>T ENST00000020673.5 - 2 585 c.59G>A c.(58-60)cGa>cAa p.R20Q PSD_ENST00000406432.1_Missense_Mutation_p.R20Q|PSD_ENST00000492902.2_5'UTR NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 20 Pro-rich. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GCGTGGGCATCGTGGTGGGGA 0.711000 5 8 0 0 0.000602 0 0 ATP6V1G2-DDX39B 100532737 broad.mit.edu 37 6 31513909 31513909 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:31513909C>T ENST00000376185.1 - 2 182 c.160G>A c.(160-162)Gaa>Aaa p.E54K ATP6V1G2_ENST00000483251.1_Missense_Mutation_p.E13K|ATP6V1G2-DDX39B_ENST00000475917.1_5'UTR|ATP6V1G2_ENST00000303892.5_Missense_Mutation_p.E54K|ATP6V1G2_ENST00000483170.1_5'UTR|ATP6V1G2_ENST00000376151.4_Intron CTCTGGAATTCGTGCTCTCGC 0.582000 43 90 0 0 0.014410 0 0 ANKRD24 170961 broad.mit.edu 37 19 4216717 4216717 + Missense_Mutation SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:4216717A>C ENST00000600132.1 + 18 1836 c.1560A>C c.(1558-1560)agA>agC p.R520S ANKRD24_ENST00000262970.5_Missense_Mutation_p.R610S|ANKRD24_ENST00000318934.4_Missense_Mutation_p.R520S NM_133475.1 NP_597732.1 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 520 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) AGGTCCCCAGAGAAGAGGGGG 0.627000 3 6 0 0 0.004672 0 0 IGKV1D-17 28900 broad.mit.edu 37 2 90121860 90121860 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:90121860G>A ENST00000483379.1 + 0 259 ACATCCAGATGACCCAGTCTC 0.443000 27 183 0 0 0.009535 0 0 CHST4 10164 broad.mit.edu 37 16 71570864 71570864 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:71570864G>A ENST00000338482.5 + 3 627 c.284G>A c.(283-285)cGg>cAg p.R95Q CHST4_ENST00000539698.3_Missense_Mutation_p.R95Q|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Missense_Mutation_p.R95Q|RP11-510M2.9_ENST00000572693.1_RNA Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 95 cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 21 ATGGCTGTGCGGGATCTGATA 0.577000 9 35 0 0 0.004482 0 0 KCNQ4 9132 broad.mit.edu 37 1 41303367 41303367 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:41303367G>A ENST00000347132.5 + 13 1858 c.1776G>A c.(1774-1776)ggG>ggA p.G592G KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Silent_p.G538G NM_004700.3|NM_172163.2 NP_004691.2|NP_751895.1 P56696 KCNQ4_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 4 592 A-domain (Tetramerization). sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1) 26 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) GGGGGCCCGGGGACAGGAAGG 0.627000 8 32 0 0 0.004482 0 0 HTR5A 3361 broad.mit.edu 37 7 154876048 154876048 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:154876048C>T ENST00000287907.2 + 2 1501 c.925C>T c.(925-927)Ccc>Tcc p.P309S HTR5A_ENST00000486819.1_3'UTR NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 309 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) GCTCATCAGTCCCCTCTGCTC 0.572000 48 64 0 0 0.014410 0 0 SOS2 6655 broad.mit.edu 37 14 50655308 50655308 + Silent SNP G G A rs147109760 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:50655308G>A ENST00000216373.5 - 5 895 c.621C>T c.(619-621)atC>atT p.I207I SOS2_ENST00000543680.1_Silent_p.I207I NM_006939.2 NP_008870.2 Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) 207 DH. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) TTTCTTCTGCGATTTCAGTTC 0.353000 8 24 0 0 0.003080 0 0 MYO18B 84700 broad.mit.edu 37 22 26343750 26343750 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:26343750G>A ENST00000335473.7 + 36 5954 c.5704G>A c.(5704-5706)Gac>Aac p.D1902N MYO18B_ENST00000536101.1_Missense_Mutation_p.D1902N|MYO18B_ENST00000407587.2_Missense_Mutation_p.D1903N NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1902 Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GGACCAGGATGACCTGAATGA 0.562000 14 23 0 0 0.004007 0 0 MYLK2 85366 broad.mit.edu 37 20 30408243 30408243 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:30408243C>T ENST00000375994.2 + 2 640 c.367C>T c.(367-369)Cct>Tct p.P123S MYLK2_ENST00000375985.4_Missense_Mutation_p.P123S Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 123 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CAGCCAGGATCCTGGAAAGCC 0.657000 15 23 0 0 0.004007 0 0 HORMAD2 150280 broad.mit.edu 37 22 30518046 30518046 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:30518046G>A ENST00000336726.6 + 10 1017 c.662G>A c.(661-663)gGa>gAa p.G221E HORMAD2_ENST00000403975.1_Missense_Mutation_p.G221E NM_152510.2 NP_689723.1 Q8N7B1 HORM2_HUMAN HORMA domain containing 2 221 HORMA. meiosis|mitosis chromosome|nucleus large_intestine(1)|lung(1) 2 Epithelial(10;0.125) GTGCAAGTGGGATTTGTCTCC 0.443000 10 11 0 0 0.006214 0 0 FCGBP 8857 broad.mit.edu 37 19 40384098 40384098 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:40384098G>A ENST00000221347.6 - 21 9519 c.9512C>T c.(9511-9513)cCt>cTt p.P3171L NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 3171 TIL 7. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) AAGGGGTGCAGGGGACGGACA 0.632000 38 286 0 0 0.014410 0 0 ZNF727 442319 broad.mit.edu 37 7 63529389 63529389 + Missense_Mutation SNP T T G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:63529389T>G ENST00000550760.3 + 2 303 c.124T>G c.(124-126)Tcc>Gcc p.S42A RP11-3N2.13_ENST00000445978.1_RNA NM_001159522.1 NP_001152994.1 A8MUV8 ZN727_HUMAN zinc finger protein 727 42 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1) 8 AAACCTGTTCTCCTTGGGTGA 0.378000 2 2 0 0 0.004672 0 0 SOX7 83595 broad.mit.edu 37 8 10583780 10583780 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:10583780A>T ENST00000304501.1 - 2 713 c.635T>A c.(634-636)gTg>gAg p.V212E SOX7_ENST00000554914.1_Missense_Mutation_p.V264E|SOX7_ENST00000553390.1_Missense_Mutation_p.V264E NM_031439.2 NP_113627.1 Q9BT81 SOX7_HUMAN SRY (sex determining region Y)-box 7 212 endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 COAD - Colon adenocarcinoma(149;0.0732) CGGCTCCAGCACGTCCAGGGG 0.701000 11 31 0 0 0.013537 0 0 SLC2A12 154091 broad.mit.edu 37 6 134350794 134350794 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:134350794C>T ENST00000275230.5 - 2 324 c.169G>A c.(169-171)Gaa>Aaa p.E57K NM_145176.2 NP_660159.1 Q8TD20 GTR12_HUMAN solute carrier family 2 (facilitated glucose transporter), member 12 57 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.214)|Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123) ATCCCAAGTTCATAACCCACC 0.527000 19 50 0 0 0.007413 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518020 113518020 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:113518020C>T ENST00000284601.3 - 4 3195 c.3127G>A c.(3127-3129)Gaa>Aaa p.E1043K NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 1043 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 GATTCCTTTTCACCTGAAGTG 0.378000 40 89 0 0 0.014410 0 0 STK26 51765 broad.mit.edu 37 X 131197485 131197485 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:131197485G>A ENST00000394334.2 + 4 551 c.298G>A c.(298-300)Gaa>Aaa p.E100K MST4_ENST00000496850.1_Missense_Mutation_p.E100K|MST4_ENST00000481105.1_Missense_Mutation_p.E122K|MST4_ENST00000394335.2_Missense_Mutation_p.E23K|MST4_ENST00000354719.6_Missense_Mutation_p.E100K NM_016542.3 NP_057626.2 Q9P289 MST4_HUMAN 100 Protein kinase. cellular component disassembly involved in apoptosis|regulation of apoptosis cytosol|Golgi membrane ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity p.E100*(1) endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(192;0.000127) GATAATAATGGAATACCTGGG 0.323000 25 20 0 0 0.007291 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803517 185803517 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:185803517C>T ENST00000302277.6 + 4 3988 c.3394C>T c.(3394-3396)Ctt>Ttt p.L1132F NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1132 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 CCAACAGTTTCTTTCCCAAAT 0.542000 10 49 0 0 0.010729 0 0 IGKV3-20 28912 broad.mit.edu 37 2 89442596 89442596 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:89442596C>T ENST00000492167.1 - 0 47 TTCCATGGTTCCCTCTGGGTC 0.572000 13 42 0 0 0.004990 0 0 NLRP9 338321 broad.mit.edu 37 19 56244734 56244734 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:56244734C>T ENST00000332836.2 - 2 490 c.463G>A c.(463-465)Gga>Aga p.G155R NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 155 NACHT. cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) TTTCCAATTCCATCAGGACCT 0.413000 8 62 0 0 0.006214 0 0 FRMPD4 9758 broad.mit.edu 37 X 12632949 12632949 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:12632949A>T ENST00000380682.1 + 4 877 c.371A>T c.(370-372)aAt>aTt p.N124I NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 124 PDZ. positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 GTAATGATTAATGATGAACCG 0.512000 27 10 0 0 0.008361 0 0 OR2T8 343172 broad.mit.edu 37 1 248084319 248084319 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:248084319C>T ENST00000319968.4 + 1 0 c.e1-1 NM_001005522.1 NP_001005522.1 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, member 8 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TATTTGAAATCATGGAAAATG 0.373000 7 47 0 0 0.001984 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 105011151 105011151 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:105011151G>A ENST00000372582.1 + 11 2314 c.1558G>A c.(1558-1560)Gaa>Aaa p.E520K IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.E125K|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.E520K NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 520 TIR. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GAATTGCCAGGAAGTGGAATC 0.388000 44 16 0 0 0.014410 0 0 CXorf66 347487 broad.mit.edu 37 X 139040376 139040376 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:139040376C>T ENST00000370540.1 - 2 112 c.88_splice c.e2-1 p.G30_splice NM_001013403.2 NP_001013421.1 Q5JRM2 CX066_HUMAN chromosome X open reading frame 66 30 integral to membrane breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1) 26 AGGTTTATCTCCTGCAAAGAG 0.308000 37 22 0 0 0.004878 0 0 IGFN1 91156 broad.mit.edu 37 1 201184950 201184950 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:201184950C>T ENST00000335211.4 + 15 9409 c.9279C>T c.(9277-9279)ctC>ctT p.L3093L IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_Silent_p.L253L NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 AGGCCGAGCTCACTCTGCAAG 0.632000 7 27 0 0 0.003080 0 0 SLC17A7 57030 broad.mit.edu 37 19 49933984 49933984 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:49933984C>T ENST00000221485.3 - 12 1646 c.1475G>A c.(1474-1476)gGa>gAa p.G492E SLC17A7_ENST00000600601.1_Missense_Mutation_p.G425E|SLC17A7_ENST00000543531.1_Missense_Mutation_p.G480E NM_020309.3 NP_064705.1 Q9P2U7 VGLU1_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 7 492 glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 26 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) CTGCTTCTCTCCAGAAGCAAA 0.572000 20 40 0 0 0.010504 0 0 CACNA1E 777 broad.mit.edu 37 1 181695218 181695218 + Silent SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:181695218A>G ENST00000526775.1 + 18 2325 c.2160A>G c.(2158-2160)gaA>gaG p.E720E CACNA1E_ENST00000367567.4_Silent_p.E327E|CACNA1E_ENST00000367570.1_Silent_p.E720E|CACNA1E_ENST00000358338.5_Silent_p.E671E|CACNA1E_ENST00000360108.3_Silent_p.E720E|CACNA1E_ENST00000357570.5_Silent_p.E671E|CACNA1E_ENST00000367573.2_Silent_p.E720E NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 720 Poly-Glu. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AGGAGGAAGAAGAGGCCTTCA 0.552000 5 17 0 0 0.001984 0 0 RBP3 5949 broad.mit.edu 37 10 48389017 48389017 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:48389017C>T ENST00000224600.4 - 1 1974 c.1861G>A c.(1861-1863)Gag>Aag p.E621K NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 621 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) TCCAGGGCCTCCTCGGCCAGC 0.672000 11 23 0 0 0.013537 0 0 IRS2 8660 broad.mit.edu 37 13 110436664 110436664 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:110436664G>A ENST00000375856.3 - 1 2251 c.1737C>T c.(1735-1737)acC>acT p.T579T NM_003749.2 NP_003740.2 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 579 fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 19 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) GGGCTGGCGTGGTCAGGGAGT 0.726000 13 11 0 0 0.001855 0 0 CALML3 810 broad.mit.edu 37 10 5567256 5567256 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:5567256C>T ENST00000315238.1 + 1 333 c.208C>T c.(208-210)Ctg>Ttg p.L70L RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000545372.1_RNA|CALML3-AS1_ENST00000542093.1_RNA NM_005185.2 NP_005176.1 P27482 CALL3_HUMAN calmodulin-like 3 70 EF-hand 2. calcium ion binding endometrium(3)|lung(2) 5 CCCCGAGTTCCTGGGCATGAT 0.647000 8 9 0 0 0.004482 0 0 SYNE2 23224 broad.mit.edu 37 14 64681136 64681136 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:64681136C>T ENST00000357395.3 + 107 19580 c.8436C>T c.(8434-8436)ggC>ggT p.G2812G SYNE2_ENST00000554805.1_Silent_p.G210G|SYNE2_ENST00000344113.4_Silent_p.G6427G|SYNE2_ENST00000555002.1_Silent_p.G3061G|SYNE2_ENST00000555022.1_Silent_p.G305G|SYNE2_ENST00000458046.2_Silent_p.G61G|SYNE2_ENST00000394768.2_Silent_p.G2812G|SYNE2_ENST00000358025.3_Silent_p.G6427G|SYNE2_ENST00000554584.1_Silent_p.G6369G|ESR2_ENST00000542956.1_Intron Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6427 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) ACGTGGGGGGCTCCTCCTCTC 0.637000 9 24 0 0 0.006214 0 0 DCC 1630 broad.mit.edu 37 18 50592482 50592482 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:50592482G>A ENST00000442544.2 + 7 1823 c.1207G>A c.(1207-1209)Gaa>Aaa p.E403K DCC_ENST00000412726.1_Missense_Mutation_p.E251K|DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Missense_Mutation_p.E58K NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 403 Ig-like C2-type 4. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.E403K(1) 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) ATGTGTGGCTGAAAATGAGGC 0.438000 19 45 0 0 0.007413 0 0 RP1L1 94137 broad.mit.edu 37 8 10470431 10470431 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:10470431C>T ENST00000382483.3 - 4 1400 c.1177G>A c.(1177-1179)Gaa>Aaa p.E393K NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 393 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CCAAAGACTTCCCTGCATCCC 0.657000 34 52 0 0 0.004878 0 0 TTN 7273 broad.mit.edu 37 2 179497392 179497392 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179497392G>A ENST00000589042.1 - 235 43565 c.43341C>T c.(43339-43341)atC>atT p.I14447I TTN_ENST00000460472.2_Silent_p.I5382I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.I5507I|TTN_ENST00000342992.6_Silent_p.I11879I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.I5574I|TTN_ENST00000591111.1_Silent_p.I12806I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12806 Fibronectin type-III 4. 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) CATCACCTGTGATTTCCTGGG 0.408000 74 109 0 0 0.014410 0 0 NUGGC 389643 broad.mit.edu 37 8 27880884 27880884 + Missense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:27880884G>T ENST00000413272.2 - 19 2483 c.2341C>A c.(2341-2343)Ctc>Atc p.L781I NUGGC_ENST00000341513.6_Missense_Mutation_p.L781I NM_001010906.1 NP_001010906.1 nuclear GTPase, germinal center associated GCCCTTAGGAGGAATTCTTGC 0.562000 5 28 0.000602214 0.00065137 0.000602 1 0 TAS2R5 54429 broad.mit.edu 37 7 141490991 141490991 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:141490991C>T ENST00000247883.4 + 1 975 c.830C>T c.(829-831)cCt>cTt p.P277L NM_018980.2 NP_061853.1 Q9NYW4 TA2R5_HUMAN taste receptor, type 2, member 5 277 chemosensory behavior|sensory perception of taste taste receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 Melanoma(164;0.0171) ATGGGGATTCCTAGGGTGAAG 0.498000 49 101 0 0 0.014410 0 0 CDH4 1002 broad.mit.edu 37 20 60419756 60419756 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:60419756C>T ENST00000360469.5 + 5 697 c.609C>T c.(607-609)atC>atT p.I203I CDH4_ENST00000543233.1_Silent_p.I129I NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 203 Cadherin 1. 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) ACATCCCCATCCGGTACAGCA 0.602000 21 48 0 0 0.004656 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37462263 37462263 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:37462263G>A ENST00000381792.2 - 19 2472 c.2332C>T c.(2332-2334)Ccg>Tcg p.P778S TMPRSS6_ENST00000406725.1_Missense_Mutation_p.P756S|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.P765S|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.P778S Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 765 Peptidase S1. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 CACACCAGCGGACCACCTGAG 0.617000 8 12 0 0 0.003080 0 0 ICA1L 130026 broad.mit.edu 37 2 203680719 203680719 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:203680719C>T ENST00000392237.2 - 8 855 c.698G>A c.(697-699)gGa>gAa p.G233E ICA1L_ENST00000358299.2_Missense_Mutation_p.G233E NM_138468.4 NP_612477.3 Q8NDH6 ICA1L_HUMAN islet cell autoantigen 1,69kDa-like 233 AH. breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CTTCCAGAATCCAAGCAGTGT 0.388000 55 178 0 0 0.014410 0 0 FAT4 79633 broad.mit.edu 37 4 126411609 126411609 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:126411609G>A ENST00000394329.3 + 17 13645 c.13632G>A c.(13630-13632)aaG>aaA p.K4544K FAT4_ENST00000335110.5_Silent_p.K2785K NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4544 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 AGAAACCGAAGGAGAAGAAGA 0.517000 19 26 0 0 0.007413 0 0 ACSBG2 81616 broad.mit.edu 37 19 6147520 6147520 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:6147520G>A ENST00000586696.1 + 3 407 c.131G>A c.(130-132)gGa>gAa p.G44E ACSBG2_ENST00000591403.1_Missense_Mutation_p.G44E|ACSBG2_ENST00000252669.5_Missense_Mutation_p.G44E|ACSBG2_ENST00000588485.1_5'UTR|ACSBG2_ENST00000588304.1_5'UTR Q5FVE4 ACBG2_HUMAN acyl-CoA synthetase bubblegum family member 2 44 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCCAAACACGGACCAGGCCAT 0.498000 37 87 0 0 0.005524 0 0 PTPRK 5796 broad.mit.edu 37 6 128294298 128294298 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:128294298C>T ENST00000368227.3 - 30 4555 c.4189G>A c.(4189-4191)Ggt>Agt p.G1397S PTPRK_ENST00000368210.3_Missense_Mutation_p.G1398S|PTPRK_ENST00000368226.4_Missense_Mutation_p.G1380S|PTPRK_ENST00000532331.1_Missense_Mutation_p.G1402S|PTPRK_ENST00000368215.3_Missense_Mutation_p.G1379S|PTPRK_ENST00000368213.5_Missense_Mutation_p.G1386S|PTPRK_ENST00000368207.3_Missense_Mutation_p.G1412S Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1379 Tyrosine-protein phosphatase 2. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) CGCCCGCCACCATTTCTGAAA 0.423000 24 40 0 0 0.011902 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98376449 98376449 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:98376449C>T ENST00000339364.5 - 13 2080 c.1961G>A c.(1960-1962)aGa>aAa p.R654K PIK3AP1_ENST00000371109.3_Missense_Mutation_p.R253K|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.R476K NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 654 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) GATGCTGTCTCTTAGCCGTTT 0.413000 10 40 0 0 0.013537 0 0 FILIP1 27145 broad.mit.edu 37 6 76024179 76024179 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:76024179C>T ENST00000393004.2 - 5 1590 c.1369G>A c.(1369-1371)Gag>Aag p.E457K FILIP1_ENST00000237172.7_Missense_Mutation_p.E457K|FILIP1_ENST00000370020.1_Missense_Mutation_p.E358K|FILIP1_ENST00000498523.1_5'UTR Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 457 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TTTTCTTTCTCCAGATTTAAA 0.378000 26 61 0 0 0.006320 0 0 AKAP6 9472 broad.mit.edu 37 14 33290821 33290821 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:33290821C>T ENST00000280979.4 + 13 3972 c.3802C>T c.(3802-3804)Cat>Tat p.H1268Y AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1268 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GGCTGATAACCATGGGGGATC 0.463000 9 30 0 0 0.004482 0 0 PLCG2 5336 broad.mit.edu 37 16 81914535 81914535 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:81914535G>A ENST00000359376.3 + 8 883 c.669G>A c.(667-669)aaG>aaA p.K223K NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 223 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 AATTCAAAAAGGATTCGTCCG 0.493000 8 86 0 0 0.003080 0 0 KMT2C 58508 broad.mit.edu 37 7 151849883 151849883 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:151849883G>A ENST00000355193.2 - 50 12822 c.12604C>T c.(12604-12606)Cgt>Tgt p.R4202C KMT2C_ENST00000262189.6_Missense_Mutation_p.R4145C lysine (K)-specific methyltransferase 2C GGAGGCCCACGGAGAAGTAAA 0.522000 23 59 0 0 0.002780 0 0 MFAP2 4237 broad.mit.edu 37 1 17301806 17301806 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:17301806T>A ENST00000375535.3 - 8 695 c.406A>T c.(406-408)Atc>Ttc p.I136F MFAP2_ENST00000438542.1_Missense_Mutation_p.I135F|MFAP2_ENST00000375534.3_Missense_Mutation_p.I135F|MFAP2_ENST00000490075.1_5'UTR P55001 MFAP2_HUMAN microfibrillar-associated protein 2 136 microfibril kidney(1)|lung(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) CGAACACAGATCTCCTTGTTA 0.607000 19 27 0 0 0.014323 0 0 C2 717 broad.mit.edu 37 6 31902050 31902050 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:31902050G>A ENST00000299367.5 + 6 1099 c.823G>A c.(823-825)Gag>Aag p.E275K C2_ENST00000418949.2_Missense_Mutation_p.E275K|CFB_ENST00000477310.1_Intron|C2_ENST00000452323.2_Intron|CFB_ENST00000556679.1_Intron|CFB_ENST00000456570.1_Intron|C2_ENST00000469372.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.E143K NM_000063.4 NP_000054.2 complement component 2 haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 27 Ovarian(999;0.00965) LUAD - Lung adenocarcinoma(999;0.247) CATCTTCAAGGAGAGCGCCTC 0.547000 90 199 0 0 0.014410 0 0 LIN28B 389421 broad.mit.edu 37 6 105526491 105526491 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:105526491G>A ENST00000345080.4 + 4 789 c.586G>A c.(586-588)Gga>Aga p.G196R NM_001004317.3 NP_001004317.1 Q6ZN17 LN28B_HUMAN lin-28 homolog B (C. elegans) 196 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) TCGAGAAGTGGGAGGCGGGCA 0.552000 14 23 0 0 0.002450 0 0 SLC7A11 23657 broad.mit.edu 37 4 139163186 139163186 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:139163186C>T ENST00000280612.5 - 1 317 c.38G>A c.(37-39)gGa>gAa p.G13E NM_014331.3 NP_055146.1 Q9UPY5 XCT_HUMAN solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 13 blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin integral to membrane|plasma membrane cystine:glutamate antiporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2) 18 all_hematologic(180;0.166) L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795) CAGGTAACCTCCTTTGGAGAT 0.488000 8 10 0 0 0.004482 0 0 NLRP14 338323 broad.mit.edu 37 11 7070921 7070921 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:7070921C>T ENST00000299481.4 + 6 2489 c.2143C>T c.(2143-2145)Cct>Tct p.P715S NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 715 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) TATCACTTTCCCTGATGGTTG 0.358000 14 55 0 0 0.004990 0 0 PRDM16 63976 broad.mit.edu 37 1 3347451 3347451 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:3347451C>T ENST00000378398.3 + 16 3382 c.3300C>T c.(3298-3300)atC>atT p.I1100I PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Silent_p.I1100I|PRDM16_ENST00000511072.1_Silent_p.I1101I|PRDM16_ENST00000442529.2_Silent_p.I1099I|PRDM16_ENST00000441472.2_Silent_p.I1099I|PRDM16_ENST00000378391.2_Silent_p.I1100I|PRDM16_ENST00000270722.5_Silent_p.I1100I Q9HAZ2 PRD16_HUMAN PR domain containing 16 1100 Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) ACATGCAGATCGTGGACGGCA 0.602000 T EVI1 """MDS, AML""" 16 36 0 0 0.008871 0 0 TTN 7273 broad.mit.edu 37 2 179612525 179612525 + Nonsense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179612525C>A ENST00000360870.5 - 46 14824 c.14602G>T c.(14602-14604)Gaa>Taa p.E4868* TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 986 Ig-like 29. 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) AAAGAAGCTTCATTCTGAACT 0.358000 14 40 3.27435e-08 3.57051e-08 0.002450 1 0 PRSS35 167681 broad.mit.edu 37 6 84233867 84233867 + Missense_Mutation SNP C C T rs145431726 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:84233867C>T ENST00000536636.1 + 3 1052 c.707C>T c.(706-708)tCt>tTt p.S236F PRSS35_ENST00000369700.3_Missense_Mutation_p.S236F NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 236 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) AGAAAAAAATCTGGCCGGGGT 0.572000 9 28 0 0 0.006214 0 0 ASXL2 55252 broad.mit.edu 37 2 25965600 25965600 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:25965600G>A ENST00000435504.4 - 13 3899 c.3606C>T c.(3604-3606)tcC>tcT p.S1202S ASXL2_ENST00000272341.4_Silent_p.S685S|ASXL2_ENST00000404843.1_Silent_p.S685S|ASXL2_ENST00000336112.4_Silent_p.S1174S Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 1202 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGCACTCTGGGAAACCTGGG 0.493000 22 53 0 0 0.012319 0 0 LRFN1 57622 broad.mit.edu 37 19 39805083 39805083 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:39805083G>A ENST00000248668.4 - 1 893 c.894C>T c.(892-894)ccC>ccT p.P298P NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 298 LRRCT. cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) TGATCAGCGGGGGCTCACACA 0.711000 8 7 0 0 0.013537 0 0 C1orf87 127795 broad.mit.edu 37 1 60520946 60520946 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:60520946T>C ENST00000371201.3 - 3 379 c.272A>G c.(271-273)aAc>aGc p.N91S C1orf87_ENST00000450089.2_Missense_Mutation_p.N91S NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 91 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 TTTCTGGTTGTTCTCTGGGTG 0.433000 82 151 0 0 0.014410 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140812029 140812029 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140812029C>T ENST00000252085.3 + 1 1845 c.1703C>T c.(1702-1704)cCc>cTc p.P568L PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCGCCCTCCCCACGGACGGT 0.677000 24 81 0 0 0.003330 0 0 ZNF23 7571 broad.mit.edu 37 16 71482251 71482251 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:71482251G>A ENST00000393539.2 - 6 2490 c.1677C>T c.(1675-1677)ccC>ccT p.P559P ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000564528.1_Silent_p.P501P|ZNF23_ENST00000357254.4_Silent_p.P559P|ZNF23_ENST00000497160.1_3'UTR|RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000428724.2_Silent_p.P501P|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000417828.1_Silent_p.P559P NM_145911.1 NP_666016.1 P17027 ZNF23_HUMAN zinc finger protein 23 559 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1) 29 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) TACACTGAAAGGGTTTCTCTC 0.428000 14 21 0 0 0.004990 0 0 HIP1 3092 broad.mit.edu 37 7 75186992 75186992 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:75186992G>A ENST00000336926.6 - 16 1573 c.1547C>T c.(1546-1548)tCg>tTg p.S516L HIP1_ENST00000434438.2_Missense_Mutation_p.S516L NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 516 activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton p.S516L(1) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 GCGCTCCAACGAATCCTCCAG 0.557000 T PDGFRB CMML 44 60 0 0 0.008740 0 0 ZPLD1 131368 broad.mit.edu 37 3 102153984 102153984 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:102153984G>A ENST00000306176.1 + 1 126 c.26G>A c.(25-27)aGg>aAg p.R9K ZPLD1_ENST00000491959.1_Intron|ZPLD1_ENST00000466937.1_5'UTR NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 0 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 TCCATGTGCAGGGGAAATGAT 0.363000 10 23 0 0 0.010729 0 0 SNCAIP 9627 broad.mit.edu 37 5 121786323 121786323 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:121786323G>A ENST00000261367.7 + 12 3350 c.1922G>A c.(1921-1923)gGg>gAg p.G641E SNCAIP_ENST00000542191.1_Missense_Mutation_p.G152E|SNCAIP_ENST00000379536.2_Missense_Mutation_p.G534E|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.G641E|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.G228E|SNCAIP_ENST00000261368.8_Missense_Mutation_p.G594E|SNCAIP_ENST00000414317.2_Missense_Mutation_p.G196E|CTC-210G5.1_ENST00000505546.1_RNA Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 594 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) GTCCAAGAGGGGATTCAGGTT 0.478000 17 47 0 0 0.004990 0 0 INPP5D 3635 broad.mit.edu 37 2 233925234 233925234 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:233925234G>A ENST00000359570.5 + 1 46 c.46G>A c.(46-48)Gag>Aag p.E16K INPP5D_ENST00000538935.1_Missense_Mutation_p.E16K Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 16 SH2. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CTCCAAGGCGGAGGAGCTGCT 0.677000 8 24 0 0 0.003080 0 0 CCNY 219771 broad.mit.edu 37 10 35819114 35819114 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:35819114C>T ENST00000374704.4 + 7 702 c.522C>T c.(520-522)ttC>ttT p.F174F CCNY_ENST00000339497.5_Silent_p.F149F|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000265375.9_Silent_p.F120F|CCNY_ENST00000374706.1_Silent_p.F120F NM_145012.4 NP_659449.3 Q8ND76 CCNY_HUMAN cyclin Y 174 Cyclin N-terminal. cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane cyclin-dependent protein kinase regulator activity|protein kinase binding cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 8 TTTACCGGTTCGTTCGGACAC 0.532000 7 17 0 0 0.003080 0 0 COL5A1 1289 broad.mit.edu 37 9 137687129 137687129 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:137687129C>T ENST00000371817.3 + 34 3181 c.2767C>T c.(2767-2769)Ccc>Tcc p.P923S NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 923 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding p.P923S(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TGAAAGAGGCCCCCGGGGCAT 0.637000 11 75 0 0 0.013537 0 0 ZNF780A 284323 broad.mit.edu 37 19 40581067 40581067 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:40581067G>A ENST00000450241.2 - 6 1491 c.1180C>T c.(1180-1182)Cgt>Tgt p.R394C ZNF780A_ENST00000340963.5_Missense_Mutation_p.R428C|ZNF780A_ENST00000594395.1_Missense_Mutation_p.R429C|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Missense_Mutation_p.R428C|ZNF780A_ENST00000455521.1_Missense_Mutation_p.R429C|ZNF780A_ENST00000414720.2_Intron O75290 Z780A_HUMAN zinc finger protein 780A 428 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TGTGCACCACGATTAAAGCCT 0.383000 46 105 0 0 0.013114 0 0 OR4X2 119764 broad.mit.edu 37 11 48267329 48267329 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:48267329G>A ENST00000302329.3 + 1 722 c.674G>A c.(673-675)tGg>tAg p.W225* NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 TCTGAAGGGTGGTGCAAAGCC 0.537000 18 48 0 0 0.010504 0 0 FERMT1 55612 broad.mit.edu 37 20 6078265 6078265 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:6078265C>T ENST00000217289.4 - 7 1651 c.863G>A c.(862-864)cGa>cAa p.R288Q FERMT1_ENST00000536936.1_Missense_Mutation_p.R31Q NM_017671.4 NP_060141.3 Q9BQL6 FERM1_HUMAN fermitin family member 1 288 FERM. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 TTGGTTTATTCGGACAGCATC 0.403000 8 59 0 0 0.003080 0 0 HECW2 57520 broad.mit.edu 37 2 197182016 197182016 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:197182016C>T ENST00000260983.2 - 10 2598 c.2416G>A c.(2416-2418)Gac>Aac p.D806N HECW2_ENST00000409111.1_Missense_Mutation_p.D450N NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 806 Interaction with TP73. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 AGAGCCTCGTCCACCCTCTGG 0.517000 5 16 0 0 0.000602 0 0 SYN3 8224 broad.mit.edu 37 22 32924936 32924936 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:32924936C>T ENST00000358763.2 - 11 1397 c.1155G>A c.(1153-1155)atG>atA p.M385I SYN3_ENST00000332840.5_Missense_Mutation_p.M385I NM_001135774.1 NP_001129246.1 O14994 SYN3_HUMAN synapsin III 385 C; actin-binding and synaptic-vesicle binding. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 CAAGGTCGGCCATCAGCTGTC 0.592000 OREG0026488 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 33 0 0 0.010729 0 0 DDO 8528 broad.mit.edu 37 6 110714003 110714003 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:110714003G>A ENST00000368924.3 - 5 1100 c.1085C>T c.(1084-1086)aCc>aTc p.T362I DDO_ENST00000368923.3_Missense_Mutation_p.T303I|DDO_ENST00000368925.1_Missense_Mutation_p.T334I NM_003649.2 NP_003640.2 Q99489 OXDD_HUMAN D-aspartate oxidase 334 aspartate catabolic process peroxisome binding|D-amino-acid oxidase activity|D-aspartate oxidase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3) 24 all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327) all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046) GGGAATGGGGGTCCTGAGGGC 0.532000 9 25 0 0 0.008291 0 0 BIN2 51411 broad.mit.edu 37 12 51675282 51675282 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:51675282T>A ENST00000604560.1 - 11 1542 c.1530A>T c.(1528-1530)gaA>gaT p.E510D BIN2_ENST00000452142.2_3'UTR|BIN2_ENST00000267012.4_3'UTR|BIN2_ENST00000544402.1_3'UTR Q9UBW5 BIN2_HUMAN bridging integrator 2 0 cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 GTAGTTTCTCTTCAGAGTTGT 0.483000 14 39 0 0 0.003163 0 0 TEX10 54881 broad.mit.edu 37 9 103111464 103111464 + Splice_Site SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:103111464A>T ENST00000374902.4 - 2 357 c.e2+1 TEX10_ENST00000535814.1_Splice_Site|TEX10_ENST00000537512.1_Intron NM_017746.3 NP_060216.2 Q9NXF1 TEX10_HUMAN testis expressed 10 integral to membrane|MLL1 complex|nuclear membrane|nucleolus binding NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 38 Acute lymphoblastic leukemia(62;0.0527) OV - Ovarian serous cystadenocarcinoma(323;0.157) TTTATGATTTACCTTTATGTT 0.294000 4 26 0 0 0.009096 0 0 CASP10 843 broad.mit.edu 37 2 202065209 202065209 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:202065209C>T ENST00000374650.3 + 6 884 c.728C>T c.(727-729)tCg>tTg p.S243L CASP10_ENST00000346817.5_Intron|CASP10_ENST00000492363.1_Intron|CASP10_ENST00000313728.7_Intron|CASP10_ENST00000448480.1_Intron|CASP10_ENST00000272879.5_Intron|CASP10_ENST00000360132.3_Intron|CASP10_ENST00000286186.6_Intron Q92851 CASPA_HUMAN caspase 10, apoptosis-related cysteine peptidase 0 apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 CGTGGAAACTCGCCAGATGAC 0.507000 6 19 0 0 0.003080 0 0 AC096579.13 0 broad.mit.edu 37 2 89156946 89156946 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:89156946G>A ENST00000452230.1 - 0 39 IGKC_ENST00000390237.2_RNA|AC096579.7_ENST00000430694.1_RNA CGCAGGCGTAGACTTTGTGTT 0.577000 12 50 0 0 0.013537 0 0 CALCR 799 broad.mit.edu 37 7 93098044 93098044 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:93098044C>T ENST00000359558.2 - 8 857 c.558G>A c.(556-558)ggG>ggA p.G186G CALCR_ENST00000394441.1_Silent_p.G168G|CALCR_ENST00000421592.1_Silent_p.G168G|CALCR_ENST00000360249.4_Silent_p.G168G|CALCR_ENST00000426151.1_Silent_p.G168G NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 168 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding p.G186G(1)|p.G168G(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) ACACGAAAATCCCCAGGGAAA 0.388000 17 46 0 0 0.006122 0 0 CLDN2 9075 broad.mit.edu 37 X 106171926 106171926 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:106171926G>A ENST00000541806.1 + 2 987 c.468G>A c.(466-468)atG>atA p.M156I CLDN2_ENST00000336803.1_Missense_Mutation_p.M156I|CLDN2_ENST00000540876.1_Missense_Mutation_p.M156I NM_001171092.1 NP_001164563.1 P57739 CLD2_HUMAN claudin 2 156 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity p.M156I(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 9 CTGACAGCATGAAATTTGAGA 0.478000 51 25 0 0 0.014410 0 0 DHRS3 9249 broad.mit.edu 37 1 12639399 12639399 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:12639399G>A ENST00000376223.2 - 3 764 c.381C>T c.(379-381)gtC>gtT p.V127V NM_004753.4 NP_004744.2 O75911 DHRS3_HUMAN dehydrogenase/reductase (SDR family) member 3 127 retinol metabolic process|visual perception integral to membrane electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1) 9 Ovarian(185;0.249) Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419) Vitamin A(DB00162) TCTTCCCATGGACCACGGCGG 0.602000 27 34 0 0 0.006320 0 0 OR10J1 26476 broad.mit.edu 37 1 159409968 159409968 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:159409968C>T ENST00000423932.3 + 1 457 c.420C>T c.(418-420)ccC>ccT p.P140P RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 140 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) TCTGCAACCCCCTGAGATACA 0.488000 15 78 0 0 0.003163 0 0 CAPN13 92291 broad.mit.edu 37 2 30954238 30954238 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:30954238C>T ENST00000295055.8 - 21 2131 c.1955G>A c.(1954-1956)gGa>gAa p.G652E CAPN13_ENST00000534090.2_Missense_Mutation_p.G652E NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 652 EF-hand 2. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) GAGTCCTTTTCCATCCTTAGA 0.562000 8 14 0 0 0.010729 0 0 KALRN 8997 broad.mit.edu 37 3 123987907 123987907 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:123987907C>T ENST00000360013.3 + 5 895 c.768C>T c.(766-768)atC>atT p.I256I KALRN_ENST00000460856.1_Silent_p.I256I|KALRN_ENST00000240874.3_Silent_p.I256I NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 256 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 TGCAGTGCATCCGCTGCAGCG 0.622000 7 16 0 0 0.001984 0 0 SALL1 6299 broad.mit.edu 37 16 51175015 51175015 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:51175015G>A ENST00000440970.1 - 2 1258 c.827C>T c.(826-828)tCg>tTg p.S276L SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S373L NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 373 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TGGTGAGGACGATGATGAGAC 0.512000 19 40 0 0 0.007413 0 0 PTPRB 5787 broad.mit.edu 37 12 70986322 70986322 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:70986322G>A ENST00000334414.6 - 7 1564 c.1520C>T c.(1519-1521)cCc>cTc p.P507L PTPRB_ENST00000451516.2_Missense_Mutation_p.P289L|PTPRB_ENST00000550358.1_Missense_Mutation_p.P507L|PTPRB_ENST00000551525.1_Missense_Mutation_p.P506L|PTPRB_ENST00000261266.5_Missense_Mutation_p.P289L|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.P289L|PTPRB_ENST00000538708.1_Missense_Mutation_p.P289L NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 289 Fibronectin type-III 6. 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) GACTTCCATGGGGGCTAATCA 0.403000 19 12 0 0 0.002780 0 0 EPM2A 7957 broad.mit.edu 37 6 145948663 145948663 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:145948663G>A ENST00000367519.3 - 4 1410 c.885C>T c.(883-885)ttC>ttT p.F295F NM_005670.3 NP_005661.1 O95278 EPM2A_HUMAN epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) 295 Tyrosine-protein phosphatase. glycogen metabolic process cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1) 7 Ovarian(120;0.162) OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203) TGGCCATGAGGAAATACTGCA 0.562000 4 48 0 0 0.000602 0 0 GRIA1 2890 broad.mit.edu 37 5 152873489 152873489 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:152873489G>A ENST00000285900.5 + 2 427 c.82_splice c.e2-1 p.G28_splice GRIA1_ENST00000521843.2_5'UTR|GRIA1_ENST00000518142.1_Splice_Site_p.G28_splice|GRIA1_ENST00000340592.5_Splice_Site_p.G28_splice|GRIA1_ENST00000518783.1_Splice_Site_p.W38_splice|GRIA1_ENST00000448073.4_Splice_Site_p.W38_splice|GRIA1_ENST00000518862.1_3'UTR NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 28 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TTCTCATAGGGGGATTATTTC 0.463000 13 40 0 0 0.006122 0 0 DENND1A 57706 broad.mit.edu 37 9 126144874 126144874 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:126144874G>A ENST00000373624.2 - 22 2068 c.1867C>T c.(1867-1869)Cgc>Tgc p.R623C DENND1A_ENST00000394219.3_Missense_Mutation_p.R634C|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000542603.1_Missense_Mutation_p.R408C NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 623 cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 GTCACCCCGCGGCTCCTCTCA 0.642000 11 35 0 0 0.013537 0 0 SLC25A21 89874 broad.mit.edu 37 14 37153963 37153963 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:37153963G>A ENST00000331299.5 - 8 1286 c.771C>T c.(769-771)gtC>gtT p.V257V SLC25A21_ENST00000555449.1_Silent_p.V257V NM_030631.3 NP_085134.1 Q9BQT8 ODC_HUMAN solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 257 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) CTTCCTGATAGACTGTTGCCA 0.378000 17 90 0 0 0.006122 0 0 ACTR1A 10121 broad.mit.edu 37 10 104245387 104245387 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:104245387G>A ENST00000369905.4 - 5 482 c.419C>T c.(418-420)tCc>tTc p.S140F ACTR1A_ENST00000545684.1_Missense_Mutation_p.S66F|ACTR1A_ENST00000487599.1_Missense_Mutation_p.S140F|ACTR1A_ENST00000446605.2_Missense_Mutation_p.S93F NM_005736.3 NP_005727.1 P61163 ACTZ_HUMAN ARP1 actin-related protein 1 homolog A, centractin alpha (yeast) 140 G2/M transition of mitotic cell cycle|vesicle-mediated transport centrosome|cytosol|dynactin complex ATP binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 13 Colorectal(252;0.122) Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222) AGCTTGCATGGAGATGAAAAG 0.567000 17 40 0 0 0.004990 0 0 SV2C 22987 broad.mit.edu 37 5 75594650 75594650 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:75594650T>A ENST00000502798.2 + 10 1976 c.1534T>A c.(1534-1536)Ttc>Atc p.F512I RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Missense_Mutation_p.F512I NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 512 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) ATCTGTAACTTTCAAAGACTC 0.368000 19 51 0 0 0.014323 0 0 ERCC6 2074 broad.mit.edu 37 10 50701288 50701288 + Silent SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:50701288A>G ENST00000355832.5 - 8 1774 c.1696T>C c.(1696-1698)Ttg>Ctg p.L566L ERCC6_ENST00000542458.1_Intron NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 566 Helicase ATP-binding. base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GTTGGACCCAACCCCTCAAAC 0.443000 Direct reversal of damage;Nucleotide excision repair (NER) 4 18 0 0 0.000602 0 0 SLIT1 6585 broad.mit.edu 37 10 98764484 98764484 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:98764484C>T ENST00000266058.4 - 33 3921 c.3676G>A c.(3676-3678)Gac>Aac p.D1226N SLIT1_ENST00000371070.4_Missense_Mutation_p.D1226N|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 1226 Laminin G-like. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CTGCCTGGGTCGTAGCTGACA 0.612000 9 28 0 0 0.004482 0 0 WBSCR27 155368 broad.mit.edu 37 7 73249193 73249193 + Silent SNP G G C rs141574320 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:73249193G>C ENST00000297873.4 - 6 667 c.618C>G c.(616-618)acC>acG p.T206T NM_152559.2 NP_689772.2 Q8N6F8 WBS27_HUMAN Williams Beuren syndrome chromosome region 27 206 NS(1)|central_nervous_system(1)|lung(2)|prostate(1) 5 Lung NSC(55;0.159) AGCTCCCAGCGGTCCACAGGC 0.622000 11 41 0 0 0.001855 0 0 CSMD1 64478 broad.mit.edu 37 8 3141814 3141814 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:3141814C>T ENST00000520002.1 - 27 4563 c.4008G>A c.(4006-4008)tgG>tgA p.W1336* CSMD1_ENST00000602557.1_Nonsense_Mutation_p.W1336*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.W1335*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.W1336*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.W1336*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.W1335*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.W1335*|CSMD1_ENST00000523387.1_5'UTR Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1336 CUB 8. 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) CCGGCCCGTCCCAGACCTTGA 0.572000 OREG0018505 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 18 0 0 0.003163 0 0 CA10 56934 broad.mit.edu 37 17 50008440 50008440 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:50008440C>T ENST00000451037.2 - 3 1129 c.189G>A c.(187-189)ggG>ggA p.G63G CA10_ENST00000285273.4_Silent_p.G63G|CA10_ENST00000570565.1_5'UTR|CA10_ENST00000340813.6_Silent_p.G69G|CA10_ENST00000442502.2_Silent_p.G63G NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 63 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) ACTGCCGTTTCCCCACAGAGC 0.493000 106 58 0 0 0.014410 0 0 WBP11P1 441818 broad.mit.edu 37 18 30092386 30092386 + RNA SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:30092386T>A ENST00000567636.1 + 0 761 NR_003558.1 TGTTCCACATTTGCCTCCTGG 0.562000 16 25 0 0 0.003163 0 0 BTNL2 56244 broad.mit.edu 37 6 32372984 32372984 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:32372984G>A ENST00000454136.3 - 2 163 c.159C>T c.(157-159)ctC>ctT p.L53L BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000544175.1_5'UTR|BTNL2_ENST00000374995.3_Silent_p.L53L|BTNL2_ENST00000374993.1_Silent_p.L53L|BTNL2_ENST00000429232.2_Silent_p.L53L|BTNL2_ENST00000414363.1_Intron Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 (MHC class II associated) 53 Ig-like V-type 1. integral to membrane central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1) 19 TCCTCTTGGGGAGTAGCTGGC 0.532000 34 59 0 0 0.013726 0 0 UBQLN1 29979 broad.mit.edu 37 9 86284156 86284156 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:86284156G>A ENST00000376395.4 - 7 1715 c.1192C>T c.(1192-1194)Ccc>Tcc p.P398S UBQLN1_ENST00000257468.7_Missense_Mutation_p.P398S NM_013438.4|NM_053067.2 NP_038466.2|NP_444295.1 Q9UMX0 UBQL1_HUMAN ubiquilin 1 398 apoptosis|regulation of protein ubiquitination|response to hypoxia endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex kinase binding breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1) 27 CTCATGTAGGGGGCAGACAAC 0.413000 9 20 0 0 0.004482 0 0 GAREM 64762 broad.mit.edu 37 18 29868073 29868073 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:29868073G>A ENST00000399218.4 - 4 542 c.487C>T c.(487-489)Ctt>Ttt p.L163F RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000269209.6_Missense_Mutation_p.L163F|GAREM_ENST00000578619.1_5'UTR NM_001242409.1|NM_022751.2 NP_001229338.1|NP_073588.1 GRB2 associated, regulator of MAPK1 TTTGCATAAAGGATTTCTGCC 0.428000 12 40 0 0 0.013537 0 0 OR2L8 391190 broad.mit.edu 37 1 248112537 248112537 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:248112537C>T ENST00000357191.3 + 1 378 c.378C>T c.(376-378)tgC>tgT p.C126C OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TTGCTATTTGCTTTCCTCTCC 0.458000 47 139 0 0 0.014410 0 0 TIAM2 26230 broad.mit.edu 37 6 155451113 155451113 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:155451113C>T ENST00000461783.3 + 6 2029 c.756C>T c.(754-756)tcC>tcT p.S252S TIAM2_ENST00000456144.1_Silent_p.S252S|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Silent_p.S252S|TIAM2_ENST00000318981.5_Silent_p.S252S|TIAM2_ENST00000360366.4_Silent_p.S252S Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 252 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) GGTACGACTCCCCTTGGGGCA 0.662000 26 68 0 0 0.005443 0 0 NOLC1 9221 broad.mit.edu 37 10 103921612 103921612 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:103921612C>T ENST00000405356.1 + 12 2136 c.1901C>T c.(1900-1902)cCa>cTa p.P634L NOLC1_ENST00000477977.1_3'UTR|NOLC1_ENST00000603742.1_Missense_Mutation_p.P343L|NOLC1_ENST00000488254.2_Missense_Mutation_p.P625L|NOLC1_ENST00000605788.1_Missense_Mutation_p.P624L Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 624 mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) GCATCATCCCCATTCCGAAGG 0.473000 12 44 0 0 0.001855 0 0 KIF21B 23046 broad.mit.edu 37 1 200968483 200968483 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:200968483C>T ENST00000332129.2 - 13 2195 c.1879G>A c.(1879-1881)Gag>Aag p.E627K KIF21B_ENST00000360529.5_Missense_Mutation_p.E627K|KIF21B_ENST00000422435.2_Missense_Mutation_p.E627K|KIF21B_ENST00000461742.2_Missense_Mutation_p.E627K NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 627 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 GCACCCTTCTCCTCGGGGTCT 0.627000 35 50 0 0 0.004878 0 0 TTN 7273 broad.mit.edu 37 2 179478868 179478868 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179478868T>A ENST00000589042.1 - 262 49480 c.49256A>T c.(49255-49257)aAa>aTa p.K16419I TTN_ENST00000460472.2_Missense_Mutation_p.K7354I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K7479I|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K13851I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K7546I|TTN_ENST00000591111.1_Missense_Mutation_p.K14778I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14778 Ig-like 100. 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) GATGTACTCTTTATTGGGGAT 0.433000 4 17 0 0 0.000602 0 0 ATP6V0D2 245972 broad.mit.edu 37 8 87151710 87151710 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:87151710G>A ENST00000285393.3 + 3 469 c.327G>A c.(325-327)gtG>gtA p.V109V CTD-3118D11.2_ENST00000522679.1_RNA NM_152565.1 NP_689778.1 Q8N8Y2 VA0D2_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 109 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex hydrogen ion transmembrane transporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1) 27 TAGACAATGTGATTCTGCTGA 0.423000 14 49 0 0 0.003163 0 0 MGAM 8972 broad.mit.edu 37 7 141760126 141760126 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:141760126C>T ENST00000475668.2 + 34 4129 c.4075C>T c.(4075-4077)Cct>Tct p.P1359S MGAM_ENST00000549489.2_Missense_Mutation_p.P1359S O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1359 Glucoamylase. 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) GCCTGATTTTCCTGATGTTGT 0.438000 13 31 0 0 0.004007 0 0 ABCB1 5243 broad.mit.edu 37 7 87214993 87214993 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:87214993G>A ENST00000265724.3 - 5 538 c.121C>T c.(121-123)Cgc>Tgc p.R41C ABCB1_ENST00000543898.1_Missense_Mutation_p.R41C NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 41 G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TTTGAATAGCGAAACTAAAAA 0.378000 15 12 0 0 0.002450 0 0 ADAM15 8751 broad.mit.edu 37 1 155028619 155028619 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:155028619C>T ENST00000356955.2 + 9 909 c.808C>T c.(808-810)Ctg>Ttg p.L270L ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000271836.6_Silent_p.L270L|ADAM15_ENST00000368412.3_Silent_p.L270L|ADAM15_ENST00000531455.1_Silent_p.L280L|ADAM15_ENST00000447332.3_Silent_p.L254L|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000355956.2_Silent_p.L270L|ADAM15_ENST00000449910.2_Silent_p.L270L|ADAM15_ENST00000360674.4_Silent_p.L270L|ADAM15_ENST00000359280.4_Silent_p.L270L|ADAM15_ENST00000368410.2_Intron NM_207197.2 NP_997080.1 Q13444 ADA15_HUMAN ADAM metallopeptidase domain 15 270 Peptidase M12B. angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CCAGCGTGACCTGGTGGAGAT 0.602000 16 41 0 0 0.006122 0 0 HIVEP3 59269 broad.mit.edu 37 1 42047200 42047200 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:42047200G>A ENST00000372584.1 - 3 4283 c.3269C>T c.(3268-3270)tCt>tTt p.S1090F HIVEP3_ENST00000247584.5_Missense_Mutation_p.S1090F|HIVEP3_ENST00000372583.1_Missense_Mutation_p.S1090F|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S1090F NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1090 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGTGGCCGCAGAGGAAATCTG 0.607000 7 66 0 0 0.001984 0 0 PARP10 84875 broad.mit.edu 37 8 145058554 145058554 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:145058554G>A ENST00000313028.7 - 6 1598 c.1504C>T c.(1504-1506)Cgg>Tgg p.R502W PARP10_ENST00000524918.1_Missense_Mutation_p.R502W|PARP10_ENST00000525773.1_Missense_Mutation_p.R514W NM_032789.3 NP_116178.2 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 502 Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2) 27 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AGCAGGCTCCGCAGAAACTCC 0.617000 9 15 0 0 0.006214 0 0 MYBPC2 4606 broad.mit.edu 37 19 50957356 50957356 + Missense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:50957356G>T ENST00000357701.5 + 17 1880 c.1829G>T c.(1828-1830)cGg>cTg p.R610L NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 610 Ig-like C2-type 5. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) AGTGCGCAGCGGGAAGACGAG 0.607000 6 7 5.9392e-07 6.4635e-07 0.001168 1 0 PCDH18 54510 broad.mit.edu 37 4 138451759 138451759 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:138451759C>T ENST00000344876.4 - 1 1870 c.1484G>A c.(1483-1485)gGa>gAa p.G495E PCDH18_ENST00000507846.1_Missense_Mutation_p.G275E|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.G495E NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 495 Cadherin 5. 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) CCCATTTTCTCCAAGATCAGG 0.413000 17 65 0 0 0.012319 0 0 OR1C1 26188 broad.mit.edu 37 1 247920823 247920823 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:247920823C>T ENST00000408896.2 - 1 1159 c.886G>A c.(886-888)Gat>Aat p.D296N NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CTCTTCATATCCCTGTTCCTT 0.428000 52 76 0 0 0.014410 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48585991 48585991 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:48585991T>C ENST00000323776.5 + 1 247 c.85T>C c.(85-87)Tgg>Cgg p.W29R MYCBPAP_ENST00000419930.1_Missense_Mutation_p.W29R|MYCBPAP_ENST00000436259.2_5'UTR NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 0 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) TCGGTGTCTCTGGGCCGGCGG 0.647000 4 1 0 0 0.009096 0 0 MYH11 4629 broad.mit.edu 37 16 15835512 15835512 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:15835512C>T ENST00000338282.6 - 22 2773 c.2667G>A c.(2665-2667)aaG>aaA p.K889K MYH11_ENST00000396324.3_Silent_p.K896K|MYH11_ENST00000300036.5_Silent_p.K889K|MYH11_ENST00000452625.2_Silent_p.K896K|AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000576790.1_Silent_p.K889K NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 889 EEK -> NSE (in Ref. 4). 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 GTAGCAGGTTCTTCTCCTCGG 0.637000 T CBFB AML 17 73 0 0 0.004007 0 0 MUC16 94025 broad.mit.edu 37 19 9091052 9091052 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9091052C>T ENST00000397910.4 - 1 966 c.763G>A c.(763-765)Gaa>Aaa p.E255K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 255 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 AGAATCAGTTCCAGGCTTGTT 0.478000 15 33 0 0 0.002450 0 0 ABCA4 24 broad.mit.edu 37 1 94508412 94508412 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:94508412C>T ENST00000370225.3 - 22 3319 c.3233G>A c.(3232-3234)gGa>gAa p.G1078E NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1078 ABC transporter 1. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CTTGGCATCTCCCACAAAGGC 0.557000 27 57 0 0 0.006320 0 0 NEFH 4744 broad.mit.edu 37 22 29886023 29886023 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:29886023G>A ENST00000310624.6 + 4 2427 c.2394G>A c.(2392-2394)aaG>aaA p.K798K NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 804 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 CCCCAGAGAAGGCGAAATCTC 0.557000 15 15 0 0 0.002450 0 0 C1orf94 84970 broad.mit.edu 37 1 34662971 34662971 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:34662971G>A ENST00000488417.1 + 2 586 c.466G>A c.(466-468)Gag>Aag p.E156K C1orf94_ENST00000373374.3_5'UTR NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 95 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) GGGGACCAGAGAGCTGGCTCC 0.587000 5 11 0 0 0.000602 0 0 TRPM3 80036 broad.mit.edu 37 9 73151591 73151591 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:73151591C>T ENST00000377110.2 - 25 4645 c.4402G>A c.(4402-4404)Gac>Aac p.D1468N TRPM3_ENST00000396285.1_Missense_Mutation_p.D1327N|TRPM3_ENST00000357533.2_Missense_Mutation_p.D1472N|TRPM3_ENST00000396292.4_Missense_Mutation_p.D1340N|TRPM3_ENST00000358082.3_Missense_Mutation_p.D1330N|TRPM3_ENST00000396280.5_Missense_Mutation_p.D1317N|TRPM3_ENST00000360823.2_Missense_Mutation_p.D1330N|TRPM3_ENST00000423814.3_Missense_Mutation_p.D1495N|TRPM3_ENST00000377105.1_Missense_Mutation_p.D1327N|TRPM3_ENST00000377106.1_Missense_Mutation_p.D1340N|TRPM3_ENST00000408909.2_Missense_Mutation_p.D1327N|TRPM3_ENST00000377111.2_Intron NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1493 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 GATCTAGTGTCCATGGAGGTG 0.512000 15 52 0 0 0.004990 0 0 ASB15 142685 broad.mit.edu 37 7 123267301 123267301 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:123267301C>T ENST00000451558.1 + 11 1356 c.835C>T c.(835-837)Cct>Tct p.P279S ASB15_ENST00000434204.1_Missense_Mutation_p.P279S|ASB15_ENST00000275699.3_Missense_Mutation_p.P279S|ASB15_ENST00000540573.1_Missense_Mutation_p.P279S|ASB15_ENST00000451215.1_Missense_Mutation_p.P279S Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 279 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 AGGACATCTTCCTATACACCG 0.433000 5 32 0 0 0.000602 0 0 MED12L 116931 broad.mit.edu 37 3 150876535 150876535 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:150876535C>T ENST00000474524.1 + 6 824 c.786C>T c.(784-786)atC>atT p.I262I MED12L_ENST00000422248.2_Silent_p.I262I|MED12L_ENST00000309237.4_Silent_p.I262I|MED12L_ENST00000273432.4_Silent_p.I262I NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 262 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TAGAAAAGATCAGACCAATGG 0.343000 6 22 0 0 0.004482 0 0 POU5F2 134187 broad.mit.edu 37 5 93077220 93077220 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:93077220C>T ENST00000510627.4 - 1 123 c.50G>A c.(49-51)gGt>gAt p.G17D FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron NM_153216.1 NP_694948.1 Q8N7G0 PO5F2_HUMAN POU domain class 5, transcription factor 2 17 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19) GCCGCCCCCACCACTGCCTGG 0.687000 3 7 0 0 0.004672 0 0 MCF2 4168 broad.mit.edu 37 X 138684655 138684655 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:138684655C>T ENST00000520602.1 - 19 2211 c.1926G>A c.(1924-1926)aaG>aaA p.K642K MCF2_ENST00000414978.1_Silent_p.K642K|MCF2_ENST00000370578.4_Silent_p.K727K|MCF2_ENST00000519895.1_Silent_p.K658K|MCF2_ENST00000370573.4_Silent_p.K582K|MCF2_ENST00000370576.4_Silent_p.K582K|MCF2_ENST00000338585.6_Silent_p.K598K|MCF2_ENST00000536274.1_Silent_p.K543K P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 582 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) GAAAATCATCCTTCTGTGATA 0.333000 33 13 0 0 0.009535 0 0 OVOL2 58495 broad.mit.edu 37 20 18005591 18005591 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:18005591G>A ENST00000278780.6 - 4 759 c.517C>T c.(517-519)Cgt>Tgt p.R173C OVOL2_ENST00000483661.1_5'UTR NM_021220.2 NP_067043.2 Q9BRP0 OVOL2_HUMAN ovo-like zinc finger 2 173 negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent nucleus DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3) 6 TTGTAGGGACGAATGCCTGAA 0.522000 12 70 0 0 0.001855 0 0 LRFN2 57497 broad.mit.edu 37 6 40400164 40400164 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:40400164G>A ENST00000338305.6 - 2 1231 c.689C>T c.(688-690)cCc>cTc p.P230L NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 230 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) TGGGGCAAAGGGTGTGGCTGT 0.592000 20 37 0 0 0.008871 0 0 BMS1 9790 broad.mit.edu 37 10 43315784 43315784 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:43315784C>T ENST00000374518.4 + 16 2744 c.2681C>T c.(2680-2682)cCc>cTc p.P894L NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 894 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GAAAATGTTCCCTGTGAATTT 0.483000 5 60 0 0 0.000602 0 0 TRBV4-1 28617 broad.mit.edu 37 7 142013041 142013041 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:142013041C>T ENST00000390357.3 + 0 35 CTAGCATGGGCTGCAGGCTGC 0.582000 18 44 0 0 0.010504 0 0 IMPG1 3617 broad.mit.edu 37 6 76751661 76751661 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:76751661C>T ENST00000369950.3 - 2 439 c.250G>A c.(250-252)Gaa>Aaa p.E84K IMPG1_ENST00000369963.3_Intron NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 84 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TTCATGGATTCCTGTGGACAG 0.383000 15 45 0 0 0.008871 0 0 CLTCL1 8218 broad.mit.edu 37 22 19197878 19197878 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:19197878G>A ENST00000263200.10 - 20 3279 c.3207C>T c.(3205-3207)ttC>ttT p.F1069F CLTCL1_ENST00000353891.5_Silent_p.F1069F|CLTCL1_ENST00000427926.1_Silent_p.F1069F NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 1069 Heavy chain arm.|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) GGAAAACGGTGAAGGCCTCCT 0.552000 T ? ALCL 21 56 0 0 0.003954 0 0 L1TD1 54596 broad.mit.edu 37 1 62672691 62672691 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:62672691G>A ENST00000498273.1 + 3 686 c.391G>A c.(391-393)Gaa>Aaa p.E131K NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 131 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 tgatgataatgaaaatttaac 0.318000 32 65 0 0 0.010818 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102495924 102495924 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:102495924C>T ENST00000360184.4 + 49 9681 c.9517C>T c.(9517-9519)Cct>Tct p.P3173S NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 3173 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 GGCCATCACCCCTCGCCACTA 0.527000 14 24 0 0 0.002450 0 0 DIAPH1 1729 broad.mit.edu 37 5 140908358 140908358 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140908358G>A ENST00000253811.6 - 22 3072 c.2932C>T c.(2932-2934)Cta>Tta p.L978L DIAPH1_ENST00000518047.1_Silent_p.L965L|DIAPH1_ENST00000520569.1_Silent_p.L920L|DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000389057.5_Silent_p.L968L|DIAPH1_ENST00000398562.2_Silent_p.L953L|DIAPH1_ENST00000398566.3_Silent_p.L969L|DIAPH1_ENST00000389054.3_Silent_p.L974L|DIAPH1_ENST00000398557.4_Silent_p.L977L O60610 DIAP1_HUMAN diaphanous-related formin 1 977 FH2. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTAATCTCTAGGAGATTGGAA 0.448000 18 32 0 0 0.007413 0 0 C4orf21 55345 broad.mit.edu 37 4 113540840 113540840 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:113540840G>A ENST00000505019.1 - 6 483 c.358C>T c.(358-360)Caa>Taa p.Q120* C4orf21_ENST00000445203.2_Nonsense_Mutation_p.Q89*|C4orf21_ENST00000309071.5_Nonsense_Mutation_p.Q120* NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 120 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) CGTGGTCCTTGAAAACCCTGA 0.363000 17 16 0 0 0.007413 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55378036 55378036 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:55378036C>T ENST00000326321.3 + 9 1251 c.1218C>T c.(1216-1218)ttC>ttT p.F406F KIR3DL2_ENST00000270442.5_Silent_p.F389F|KIR3DL1_ENST00000402254.2_Silent_p.F406F NM_006737.3 NP_006728.2 P43630 KI3L2_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 406 cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) ACTGCGTTTTCATACAGAGAA 0.517000 73 204 0 0 0.014410 0 0 DTX2 113878 broad.mit.edu 37 7 76111856 76111856 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:76111856C>T ENST00000324432.5 + 5 810 c.300C>T c.(298-300)ttC>ttT p.F100F DTX2_ENST00000446600.1_Silent_p.F9F|DTX2_ENST00000413936.2_Silent_p.F100F|DTX2_ENST00000307569.8_Silent_p.F100F|DTX2_ENST00000446820.2_Silent_p.F100F|DTX2_ENST00000430490.2_Silent_p.F100F|DTX2_ENST00000472426.1_3'UTR NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 100 WWE 2. Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 GACACCTGTTCCCCCAGCACT 0.552000 25 54 0 0 0.004656 0 0 BSND 7809 broad.mit.edu 37 1 55470745 55470745 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:55470745G>A ENST00000371265.4 + 2 482 c.228G>A c.(226-228)aaG>aaA p.K76K NM_057176.2 NP_476517.1 Q8WZ55 BSND_HUMAN Bartter syndrome, infantile, with sensorineural deafness (Barttin) 76 basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 TCTCCCCAAAGGCCATGGGCC 0.607000 6 54 0 0 0.001984 0 0 SALL1 6299 broad.mit.edu 37 16 51173548 51173548 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:51173548C>T ENST00000440970.1 - 2 2725 c.2294G>A c.(2293-2295)aGc>aAc p.S765N SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S862N NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 862 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) AGCAGCGATGCTCGACATCTC 0.547000 17 53 0 0 0.006122 0 0 LMO7 4008 broad.mit.edu 37 13 76381956 76381956 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:76381956G>A ENST00000357063.3 + 11 2953 c.1693G>A c.(1693-1695)Gaa>Aaa p.E565K LMO7_ENST00000321797.8_Missense_Mutation_p.E280K|LMO7_ENST00000377534.3_Missense_Mutation_p.E565K|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000465261.2_Missense_Mutation_p.E280K|LMO7_ENST00000526202.1_Intron Q8WWI1 LMO7_HUMAN LIM domain 7 565 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) TCCGGATTTGGAAAAAGATGA 0.438000 9 71 0 0 0.006214 0 0 MYOT 9499 broad.mit.edu 37 5 137217680 137217680 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:137217680G>A ENST00000239926.4 + 6 1076 c.702G>A c.(700-702)agG>agA p.R234R MYOT_ENST00000421631.2_Silent_p.R50R|MYOT_ENST00000509812.1_Intron|MYOT_ENST00000515645.1_Silent_p.R119R|RP11-381K20.2_ENST00000514616.1_RNA NM_006790.2 NP_006781.1 Q9UBF9 MYOTI_HUMAN myotilin 234 Necessary for interaction with ACTA1.|Necessary for interaction with FLNC. muscle contraction actin cytoskeleton|sarcolemma|sarcomere actin binding|structural constituent of muscle cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CAACCTCAAGGGGAGATGTGA 0.363000 11 20 0 0 0.013537 0 0 IL18R1 8809 broad.mit.edu 37 2 102984491 102984491 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:102984491G>A ENST00000409599.1 + 4 621 c.265G>A c.(265-267)Gag>Aag p.E89K IL18R1_ENST00000233957.1_Missense_Mutation_p.E89K|IL18R1_ENST00000334376.3_Missense_Mutation_p.E89K Q13478 IL18R_HUMAN interleukin 18 receptor 1 89 Ig-like C2-type 1. innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 TTGGCCAGTTGAGTTGAATGA 0.418000 20 72 0 0 0.007413 0 0 RP1L1 94137 broad.mit.edu 37 8 10468882 10468882 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:10468882C>T ENST00000382483.3 - 4 2949 c.2726G>A c.(2725-2727)aGg>aAg p.R909K NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 909 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) ACTGCTTCTCCTTGATGCCCC 0.711000 3 14 0 0 0.004672 0 0 OAS3 4940 broad.mit.edu 37 12 113388611 113388611 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:113388611C>T ENST00000228928.7 + 7 1667 c.1488C>T c.(1486-1488)atC>atT p.I496I RP1-71H24.1_ENST00000552784.1_RNA NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 496 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 GCGCAGAGATCCTTGATGAGA 0.587000 49 41 0 0 0.014410 0 0 FGL2 10875 broad.mit.edu 37 7 76825985 76825985 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:76825985C>T ENST00000248598.5 - 2 963 c.931G>A c.(931-933)Gaa>Aaa p.E311K RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron NM_006682.2 NP_006673.1 Q14314 FGL2_HUMAN fibrinogen-like 2 311 Fibrinogen C-terminal. signal transduction fibrinogen complex receptor binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 13 GCATATAGTTCGACACCATTA 0.383000 22 55 0 0 0.002780 0 0 KLK4 9622 broad.mit.edu 37 19 51411882 51411882 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:51411882G>A ENST00000324041.1 - 3 427 c.428C>T c.(427-429)aCc>aTc p.T143I KLK4_ENST00000431178.2_Missense_Mutation_p.T94I NM_004917.3 NP_004908.3 Q9Y5K2 KLK4_HUMAN kallikrein-related peptidase 4 143 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878) GTTCCCCGCGGTAGGGCACTG 0.597000 11 36 0 0 0.010729 0 0 CCDC142 84865 broad.mit.edu 37 2 74707920 74707920 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:74707920G>A ENST00000393965.3 - 5 1875 c.1479C>T c.(1477-1479)atC>atT p.I493I CCDC142_ENST00000290418.4_Silent_p.I486I|CCDC142_ENST00000471713.1_5'UTR NM_032779.3 NP_116168.3 Q17RM4 CC142_HUMAN coiled-coil domain containing 142 493 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 16 TCAGCTTCTGGATCTCCAGGC 0.547000 11 53 0 0 0.004007 0 0 NYNRIN 57523 broad.mit.edu 37 14 24878928 24878928 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:24878928C>T ENST00000382554.3 + 4 2246 c.1928C>T c.(1927-1929)cCc>cTc p.P643L NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 643 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 CCCAAAACACCCAAAGCTCAA 0.537000 3 4 0 0 0.009096 0 0 CYP2B7P 1556 broad.mit.edu 37 19 41447371 41447371 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:41447371G>A ENST00000599198.1 + 0 870 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 TGCTCCACATGGAAAAAGTGG 0.567000 23 32 0 0 0.012319 0 0 XIRP2 129446 broad.mit.edu 37 2 168102229 168102229 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:168102229G>A ENST00000409195.1 + 9 4416 c.4327G>A c.(4327-4329)Gaa>Aaa p.E1443K XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1221K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1443K NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1268 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 AAGTGTCAATGAAATACAAAA 0.328000 9 11 0 0 0.006214 0 0 MUC16 94025 broad.mit.edu 37 19 9067342 9067342 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9067342G>A ENST00000397910.4 - 3 20307 c.20104C>T c.(20104-20106)Cca>Tca p.P6702S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6704 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 TCAGGGCCTGGAATGGATGTT 0.478000 59 148 0 0 0.014410 0 0 OR11G2 390439 broad.mit.edu 37 14 20666271 20666271 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:20666271C>T ENST00000357366.3 + 1 777 c.777C>T c.(775-777)gtC>gtT p.V259V NM_001005503.1 NP_001005503.1 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, member 2 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V259V(2) endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) ATGCTCTGGTCGTGAGAGCTG 0.507000 36 163 0 0 0.006230 0 0 ZCCHC7 84186 broad.mit.edu 37 9 37126523 37126523 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:37126523C>T ENST00000336755.5 + 2 300 c.194C>T c.(193-195)tCg>tTg p.S65L ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000322831.6_Missense_Mutation_p.S64L NM_032226.2 NP_115602.2 Q8N3Z6 ZCHC7_HUMAN zinc finger, CCHC domain containing 7 65 S -> P (in Ref. 4; AAH22434). nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 30 GBM - Glioblastoma multiforme(29;0.0137) TCGGAATCTTCGAGTAGTAAA 0.418000 20 69 0 0 0.010504 0 0 MCF2 4168 broad.mit.edu 37 X 138729051 138729051 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:138729051T>C ENST00000520602.1 - 3 322 c.37A>G c.(37-39)Aag>Gag p.K13E MCF2_ENST00000414978.1_Missense_Mutation_p.K13E|MCF2_ENST00000370578.4_Missense_Mutation_p.K98E|MCF2_ENST00000519895.1_Missense_Mutation_p.K13E P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 0 CRAL-TRIO. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) GCATTGTCCTTTCCCCGGCCA 0.333000 6 5 0 0 0.004482 0 0 TMC7 79905 broad.mit.edu 37 16 19032967 19032967 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:19032967G>A ENST00000421369.3 + 4 705 c.147G>A c.(145-147)ggG>ggA p.G49G TMC7_ENST00000569532.1_Silent_p.G159G|TMC7_ENST00000304381.5_Silent_p.G159G NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 159 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 TTGGCACTGGGATTCAGTCCT 0.418000 12 56 0 0 0.002450 0 0 OR10A4 283297 broad.mit.edu 37 11 6897966 6897966 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:6897966C>T ENST00000379829.2 + 1 111 c.88C>T c.(88-90)Ctc>Ttc p.L30F NM_207186.2 NP_997069.2 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, member 4 30 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) TCTACTGTTTCTCCTTTTCTT 0.443000 48 79 0 0 0.014410 0 0 MRGPRD 116512 broad.mit.edu 37 11 68747504 68747504 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:68747504C>T ENST00000309106.3 - 1 951 c.952G>A c.(952-954)Gag>Aag p.E318K NM_198923.2 NP_944605.2 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 318 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2) 22 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GCCCCCATCTCATTGGTGCCC 0.687000 25 41 0 0 0.003954 0 0 NMUR2 56923 broad.mit.edu 37 5 151771986 151771986 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:151771986G>A ENST00000255262.3 - 4 1179 c.1014C>T c.(1012-1014)ttC>ttT p.F338F NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 338 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) TCACATTCTGGAATGCTGCCT 0.502000 24 73 0 0 0.008361 0 0 OR2G6 391211 broad.mit.edu 37 1 248685266 248685266 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:248685266T>C ENST00000343414.4 + 1 351 c.319T>C c.(319-321)Ttg>Ctg p.L107L NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 107 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 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) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGCCATGGGGTTGGGCTCGTC 0.542000 29 83 0 0 0.003271 0 0 PTCHD2 57540 broad.mit.edu 37 1 11596669 11596669 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:11596669C>T ENST00000304391.6 + 5 882 c.764C>T c.(763-765)cCt>cTt p.P255L PTCHD2_ENST00000294484.6_Silent_p.L1369L|PTCHD2_ENST00000389575.3_Silent_p.L1369L Q9P2K9 PTHD2_HUMAN patched domain containing 2 0 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GGCAGGGGCCCTGGGGCTGGG 0.682000 9 10 0 0 0.006214 0 0 KSR2 283455 broad.mit.edu 37 12 117992998 117992998 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:117992998G>A ENST00000425217.1 - 9 1461 c.1407C>T c.(1405-1407)ctC>ctT p.L469L KSR2_ENST00000302438.5_Silent_p.L195L|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Silent_p.L498L NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 498 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGGTTTTGGGGAGCGTCTGAC 0.567000 11 9 0 0 0.010729 0 0 ADCY10 55811 broad.mit.edu 37 1 167814809 167814809 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:167814809C>T ENST00000367848.1 - 21 3220 c.2723G>A c.(2722-2724)gGa>gAa p.G908E ADCY10_ENST00000367851.4_Missense_Mutation_p.G1000E|ADCY10_ENST00000545172.1_Missense_Mutation_p.G847E|ADCY10_ENST00000485964.1_5'UTR Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 1000 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 ACTTTTAAATCCATGAGACAT 0.408000 9 31 0 0 0.004482 0 0 TOPORS 10210 broad.mit.edu 37 9 32541428 32541428 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:32541428G>A ENST00000360538.2 - 3 3211 c.3095C>T c.(3094-3096)tCa>tTa p.S1032L TOPORS_ENST00000379858.1_Missense_Mutation_p.S967L NM_005802.4 NP_005793.2 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 1032 DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) TGACATTAATGATGTCCGTGG 0.388000 4 39 0 0 0.000602 0 0 ITIH5 80760 broad.mit.edu 37 10 7679266 7679266 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:7679266C>T ENST00000256861.6 - 5 655 c.577G>A c.(577-579)Gag>Aag p.E193K ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.E193K|ITIH5_ENST00000397145.2_Missense_Mutation_p.E193K|ITIH5_ENST00000434980.1_5'UTR NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 193 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 CCCGCGCTCTCCAGGATATTC 0.662000 9 50 0 0 0.004482 0 0 SORCS1 114815 broad.mit.edu 37 10 108366964 108366964 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:108366964G>A ENST00000263054.6 - 23 3132 c.3125C>T c.(3124-3126)cCa>cTa p.P1042L SORCS1_ENST00000344440.6_Missense_Mutation_p.P1042L|SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000369698.1_Missense_Mutation_p.P577L NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 1042 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TTCTCCAGCTGGATCCTGATA 0.542000 11 35 0 0 0.008291 0 0 VAV1 7409 broad.mit.edu 37 19 6853061 6853061 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:6853061C>T ENST00000304076.2 + 24 2331 c.2237C>T c.(2236-2238)cCt>cTt p.P746L VAV1_ENST00000539284.1_Missense_Mutation_p.P671L|VAV1_ENST00000602142.1_Missense_Mutation_p.P768L|VAV1_ENST00000599806.1_Missense_Mutation_p.P713L|VAV1_ENST00000596764.1_Missense_Mutation_p.P736L NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 768 SH2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 TTCAAGGAGCCTGAAAAGAGA 0.547000 17 32 0 0 0.008871 0 0 SLC9A2 6549 broad.mit.edu 37 2 103274273 103274273 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:103274273T>A ENST00000233969.2 + 2 682 c.540T>A c.(538-540)aaT>aaA p.N180K NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 180 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 CACTTTGGAATTCCATTGGCA 0.502000 50 143 0 0 0.014410 0 0 TNR 7143 broad.mit.edu 37 1 175375479 175375479 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:175375479G>A ENST00000367674.1 - 3 1080 c.372C>T c.(370-372)gcC>gcT p.A124A TNR_ENST00000263525.2_Silent_p.A124A NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 124 axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CACATGGACAGGCCTTTTTGG 0.587000 24 54 0 0 0.006320 0 0 CRB1 23418 broad.mit.edu 37 1 197326022 197326022 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:197326022C>T ENST00000367400.3 + 5 1185 c.1050C>T c.(1048-1050)tcC>tcT p.S350S CRB1_ENST00000535699.1_Silent_p.S281S|CRB1_ENST00000538660.1_Silent_p.S350S|CRB1_ENST00000543483.1_Silent_p.S49S|CRB1_ENST00000367399.2_Silent_p.S238S NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 350 EGF-like 9. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CCTGCCAGTCCAATGGGGAAT 0.473000 20 36 0 0 0.007413 0 0 PRDM1 639 broad.mit.edu 37 6 106546964 106546964 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:106546964G>A ENST00000369089.3 + 1 150 c.4G>A c.(4-6)Gaa>Aaa p.E2K PRDM1_ENST00000369091.2_Intron|PRDM1_ENST00000369096.4_Intron NM_182907.2 NP_878911.1 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 0 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) AACTGAAATGGAAAAGGTAAC 0.378000 """D, N, Mis, F, S""" DLBCL 5 12 0 0 0.000602 0 0 TTN 7273 broad.mit.edu 37 2 179638298 179638298 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179638298C>T ENST00000589042.1 - 32 7709 c.7485G>A c.(7483-7485)gtG>gtA p.V2495V TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000460472.2_Silent_p.V2449V|TTN_ENST00000360870.5_Silent_p.V2495V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.V2449V|TTN_ENST00000342992.6_Silent_p.V2495V|TTN_ENST00000342175.6_Silent_p.V2449V|TTN_ENST00000591111.1_Silent_p.V2495V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2224 Ig-like 14. 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) TAGTACCTTTCACAATGGCCT 0.428000 20 35 0 0 0.012319 0 0 TLN2 83660 broad.mit.edu 37 15 63089531 63089531 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:63089531C>T ENST00000561311.1 + 47 6394 c.6164C>T c.(6163-6165)aCc>aTc p.T2055I TLN2_ENST00000306829.6_Missense_Mutation_p.T2055I Q9Y4G6 TLN2_HUMAN talin 2 2055 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 TCAGCAGCCACCATCACCCAG 0.647000 21 33 0 0 0.010504 0 0 SLC39A4 55630 broad.mit.edu 37 8 145641426 145641426 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:145641426C>T ENST00000276833.5 - 1 470 c.167G>A c.(166-168)gGg>gAg p.G56E SLC39A4_ENST00000301305.3_Missense_Mutation_p.G81E NM_017767.2 NP_060237.2 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), member 4 81 cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 14 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) CGGGGGCAGCCCTGACCCCTC 0.726000 6 9 0 0 0.003080 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100496634 100496634 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:100496634G>A ENST00000279907.7 - 4 460 c.246_splice c.e4-1 p.S83_splice UHRF1BP1L_ENST00000356828.3_Splice_Site_p.S83_splice NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 83 p.S83C(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 TTTATCCAGGGACTAATAAAA 0.294000 26 10 0 0 0.003330 0 0 NLRP4 147945 broad.mit.edu 37 19 56369963 56369963 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:56369963C>T ENST00000301295.6 + 3 1626 c.1204C>T c.(1204-1206)Ctg>Ttg p.L402L NLRP4_ENST00000587891.1_Silent_p.L327L|NLRP4_ENST00000346986.5_Silent_p.L402L NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 402 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CCTGTGCTCCCTGGCTGCAGA 0.572000 35 72 0 0 0.007835 0 0 ACSL5 51703 broad.mit.edu 37 10 114176735 114176735 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:114176735C>T ENST00000393081.1 + 13 1480 c.1173C>T c.(1171-1173)atC>atT p.I391I RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000433418.1_Silent_p.I391I|ACSL5_ENST00000354655.4_Silent_p.I391I|ACSL5_ENST00000356116.1_Silent_p.I447I|ACSL5_ENST00000369410.3_Silent_p.I173I|ACSL5_ENST00000354273.4_Silent_p.I391I NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 391 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) AGGGTATCATCAGGCATGATA 0.473000 9 27 0 0 0.006214 0 0 TADA1 117143 broad.mit.edu 37 1 166831522 166831522 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:166831522C>T ENST00000367874.4 - 5 551 c.458G>A c.(457-459)gGg>gAg p.G153E TADA1_ENST00000467021.1_5'UTR NM_053053.3 NP_444281.1 Q96BN2 TADA1_HUMAN transcriptional adaptor 1 153 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 11 TATCATTCTCCCTTCAAGCTG 0.502000 26 65 0 0 0.006320 0 0 COL7A1 1294 broad.mit.edu 37 3 48619179 48619179 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:48619179G>A ENST00000328333.8 - 48 4789 c.4682C>T c.(4681-4683)cCc>cTc p.P1561L COL7A1_ENST00000454817.1_Missense_Mutation_p.P1561L NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1561 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGGCCCAGCGGGCCCCACATC 0.577000 18 114 0 0 0.006122 0 0 MAPK10 5602 broad.mit.edu 37 4 87019693 87019693 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:87019693G>A ENST00000395169.3 - 9 1392 c.672C>T c.(670-672)ctC>ctT p.L224L MAPK10_ENST00000359221.3_Silent_p.L262L|MAPK10_ENST00000395157.3_Silent_p.L117L|MAPK10_ENST00000449047.2_Intron|MAPK10_ENST00000395166.1_Silent_p.L224L|MAPK10_ENST00000395160.3_Silent_p.L117L|MAPK10_ENST00000361569.2_Silent_p.L262L|MAPK10_ENST00000395161.2_Silent_p.L262L NM_138980.2|NM_138982.2 NP_620446.1|NP_620448.1 P53779 MK10_HUMAN mitogen-activated protein kinase 10 262 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding breast(1)|central_nervous_system(1)|stomach(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) TTCCTGGAAAGAGGATTTTGT 0.413000 35 28 0 0 0.008740 0 0 ROBO2 6092 broad.mit.edu 37 3 77644301 77644301 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:77644301C>T ENST00000461745.1 + 18 3592 c.2692C>T c.(2692-2694)Caa>Taa p.Q898* ROBO2_ENST00000487694.3_Nonsense_Mutation_p.Q914*|ROBO2_ENST00000332191.8_Nonsense_Mutation_p.Q898* NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 898 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AGTTACGTTTCAAAGAGGAGA 0.318000 7 29 0 0 0.006214 0 0 TRPV6 55503 broad.mit.edu 37 7 142575515 142575515 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:142575515C>T ENST00000359396.3 - 3 483 c.238G>A c.(238-240)Gaa>Aaa p.E80K RP11-114L10.2_ENST00000438839.1_RNA NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 80 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) AGCGCTGTTTCCCCCATGGCT 0.567000 39 81 0 0 0.008740 0 0 MCM3 4172 broad.mit.edu 37 6 52141185 52141185 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:52141185G>A ENST00000596288.1 - 9 1417 c.1390C>T c.(1390-1392)Cgc>Tgc p.R464C MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Missense_Mutation_p.R373C|MCM3_ENST00000229854.7_Missense_Mutation_p.R419C NM_002388.4 NP_002379.3 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 419 MCM. 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 alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Lung NSC(77;0.0931) ATGGCTGTGCGATCCATGTCA 0.567000 4 23 0 0 0.009096 0 0 IGSF9 57549 broad.mit.edu 37 1 159898388 159898388 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:159898388G>A ENST00000368094.1 - 19 2987 c.2790C>T c.(2788-2790)ccC>ccT p.P930P IGSF9_ENST00000361509.3_Silent_p.P914P|IGSF9_ENST00000493195.1_5'UTR NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 930 Pro-rich. cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) CTCGGAAGAAGGGCAGGCTCA 0.642000 4 16 0 0 0.009096 0 0 SDR42E1 93517 broad.mit.edu 37 16 82033237 82033237 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:82033237C>T ENST00000328945.5 - 3 788 c.661G>A c.(661-663)Gag>Aag p.E221K NM_145168.2 NP_660151.2 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, member 1 221 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 TGGACAAACTCAACCAGGCTC 0.537000 42 58 0 0 0.008740 0 0 OBSCN 84033 broad.mit.edu 37 1 228529196 228529196 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:228529196G>A ENST00000570156.2 + 85 20860 c.20786G>A c.(20785-20787)tGg>tAg p.W6929* OBSCN_ENST00000422127.1_Nonsense_Mutation_p.W5972*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.W3606*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.W5972*|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.W3091* NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 5972 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) TTCGAGGTGTGGCAGGAGCGG 0.642000 15 24 0 0 0.003163 0 0 KIF13B 23303 broad.mit.edu 37 8 29043831 29043831 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:29043831G>A ENST00000524189.1 - 6 513 c.475C>T c.(475-477)Cga>Tga p.R159* KIF13B_ENST00000521515.1_Nonsense_Mutation_p.R159* NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 159 Kinesin-motor. microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) AGAAGGTCTCGAACTTTTTCA 0.353000 49 92 0 0 0.014410 0 0 FRMPD1 22844 broad.mit.edu 37 9 37745262 37745262 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:37745262C>T ENST00000539465.1 + 16 3826 c.3233C>T c.(3232-3234)cCt>cTt p.P1078L RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.P1078L Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1078 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) TTGTTGTCTCCTAGAGATGAG 0.428000 15 60 0 0 0.004007 0 0 CLSTN2 64084 broad.mit.edu 37 3 139894845 139894845 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:139894845G>A ENST00000458420.3 + 2 352 c.162G>A c.(160-162)gaG>gaA p.E54E NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 54 Cadherin 1. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 TCATAACTGAGAACAATGACA 0.423000 HNSCC(16;0.037) 21 30 0 0 0.002780 0 0 FAM78B 149297 broad.mit.edu 37 1 166039757 166039757 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:166039757G>A ENST00000338353.3 - 3 1096 c.507C>T c.(505-507)ttC>ttT p.F169F FAM78B_ENST00000354422.3_Silent_p.F169F Q5VT40 FA78B_HUMAN family with sequence similarity 78, member B 169 central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155) GCCAGGTCGTGAAACTTTGGT 0.507000 47 86 0 0 0.014410 0 0 AHNAK2 113146 broad.mit.edu 37 14 105408164 105408164 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:105408164G>A ENST00000333244.5 - 7 13743 c.13624C>T c.(13624-13626)Ctc>Ttc p.L4542F AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4542 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) TGCCCTTTGAGGCCGGCTACC 0.632000 28 121 0 0 0.005443 0 0 NPY4R 5540 broad.mit.edu 37 10 47087060 47087060 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:47087060C>T ENST00000374312.1 + 3 696 c.277C>T c.(277-279)Ctc>Ttc p.L93F NPY4R_ENST00000395716.1_Missense_Mutation_p.L93F NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 CATGTGCCTCCTCTGCCAGCC 0.562000 10 77 0 0 0.006214 0 0 ZIM3 114026 broad.mit.edu 37 19 57649931 57649931 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:57649931G>A ENST00000269834.1 - 3 436 c.51C>T c.(49-51)ttC>ttT p.F17F NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 17 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CCCCCTGGGTGAAGTTCACAG 0.493000 30 56 0 0 0.003755 0 0 NUP210 23225 broad.mit.edu 37 3 13381426 13381426 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:13381426G>A ENST00000254508.5 - 25 3481 c.3399C>T c.(3397-3399)atC>atT p.I1133I NUP210_ENST00000485755.1_5'UTR NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1133 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) TGCCGTTCCCGATGGCGAGGC 0.622000 29 134 0 0 0.010818 0 0 SPG11 80208 broad.mit.edu 37 15 44876629 44876629 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:44876629G>A ENST00000261866.7 - 30 5265 c.5249C>T c.(5248-5250)tCc>tTc p.S1750F SPG11_ENST00000558319.1_Missense_Mutation_p.S1750F|SPG11_ENST00000535302.2_Missense_Mutation_p.S1750F|SPG11_ENST00000427534.2_Missense_Mutation_p.S1750F NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 1750 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TGAGAAAAAGGAAGAAGCTGC 0.463000 9 29 0 0 0.006214 0 0 SRRM2 23524 broad.mit.edu 37 16 2815393 2815393 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:2815393C>T ENST00000301740.8 + 11 5413 c.4864C>T c.(4864-4866)Cct>Tct p.P1622S NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1622 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 TGATTCCTCTCCTGAACCTAA 0.562000 16 32 0 0 0.004990 0 0 SEPT14 346288 broad.mit.edu 37 7 55863612 55863612 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:55863612C>T ENST00000388975.3 - 10 1409 c.1293G>A c.(1291-1293)aaG>aaA p.K431K NM_207366.2 NP_997249.2 Q6ZU15 SEP14_HUMAN septin 14 431 cell cycle|cell division septin complex GTP binding|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2) 23 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ACTATTATTTCTTACGATGTT 0.373000 23 49 0 0 0.002780 0 0 EMR1 2015 broad.mit.edu 37 19 6904114 6904114 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:6904114C>T ENST00000312053.4 + 8 907 c.870C>T c.(868-870)ggC>ggT p.G290G EMR1_ENST00000381404.4_Silent_p.G238G|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000250572.8_Silent_p.G290G|EMR1_ENST00000381407.5_Silent_p.G149G NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 290 EGF-like 6; calcium-binding (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) ATGCCCTGGGCTCCTACAGCT 0.473000 14 38 0 0 0.004990 0 0 LONRF2 164832 broad.mit.edu 37 2 100911913 100911913 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:100911913C>T ENST00000393437.3 - 8 2218 c.1579G>A c.(1579-1581)Gaa>Aaa p.E527K LONRF2_ENST00000409647.1_Missense_Mutation_p.E284K NM_198461.3 NP_940863.3 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 2 527 proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 TCTGACATTTCTTCATCATAA 0.358000 26 48 0 0 0.007291 0 0 MUC16 94025 broad.mit.edu 37 19 9013882 9013882 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9013882C>T ENST00000397910.4 - 33 38711 c.38508G>A c.(38506-38508)ggG>ggA p.G12836G NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12838 Missing (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 TCCCTGAGGTCCCAAGGTCCA 0.483000 10 22 0 0 0.013537 0 0 NOL4 8715 broad.mit.edu 37 18 31537330 31537330 + Missense_Mutation SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:31537330A>C ENST00000261592.5 - 8 1685 c.1388T>G c.(1387-1389)cTc>cGc p.L463R NOL4_ENST00000269185.4_Intron|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000538587.1_Missense_Mutation_p.L389R|NOL4_ENST00000535475.1_Intron|NOL4_ENST00000535384.1_Missense_Mutation_p.L178R NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 463 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 GCAGGACTTGAGGTAAGTACG 0.438000 16 55 0 0 0.004990 0 0 RIMKLA 284716 broad.mit.edu 37 1 42880390 42880390 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:42880390G>A ENST00000431473.3 + 5 1050 c.921G>A c.(919-921)caG>caA p.Q307Q NM_173642.3 NP_775913.2 Q8IXN7 RIMKA_HUMAN ribosomal modification protein rimK-like family member A 307 protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 CAAATAGGCAGACTGGAAAGA 0.517000 40 57 0 0 0.007835 0 0 NRXN3 9369 broad.mit.edu 37 14 79175599 79175599 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:79175599C>T ENST00000554719.1 + 4 633 c.142C>T c.(142-144)Cgc>Tgc p.R48C NRXN3_ENST00000335750.5_Missense_Mutation_p.R48C|RP11-232C2.2_ENST00000555680.1_RNA NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 0 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) GGAGCTGTCTCGCCTGGCCCG 0.458000 23 34 0 0 0.010818 0 0 OR51F1 256892 broad.mit.edu 37 11 4790871 4790871 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:4790871C>T ENST00000380383.1 - 1 297 c.298G>A c.(298-300)Gaa>Aaa p.E100K OR51F1_ENST00000343430.3_Missense_Mutation_p.E93K|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, member 1 93 integral to membrane olfactory receptor activity p.E93K(1) kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) AGACTGATTTCACGTGCCTCA 0.423000 12 22 0 0 0.001855 0 0 CDH8 1006 broad.mit.edu 37 16 61851631 61851631 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:61851631C>T ENST00000577390.1 - 7 1983 c.1029G>A c.(1027-1029)ctG>ctA p.L343L CDH8_ENST00000299345.6_Silent_p.L343L|CDH8_ENST00000584337.1_Silent_p.L343L|CDH8_ENST00000577730.1_Silent_p.L343L NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 343 Cadherin 3. 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) TCTCAAAGTCCAGAGGCTGTT 0.433000 11 24 0 0 0.002450 0 0 GFRA2 2675 broad.mit.edu 37 8 21562498 21562498 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:21562498G>A ENST00000524240.1 - 6 1694 c.1045_splice c.e6+1 p.L348_splice GFRA2_ENST00000518077.1_Splice_Site_p.L215_splice|GFRA2_ENST00000517328.1_Splice_Site_p.L348_splice|GFRA2_ENST00000400782.4_Splice_Site_p.L243_splice NM_001495.4 NP_001486.4 O00451 GFRA2_HUMAN GDNF family receptor alpha 2 348 anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1) 7 Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727) AGAACTTACGGAGGCATGGGT 0.612000 6 16 0 0 0.003080 0 0 MXRA5 25878 broad.mit.edu 37 X 3238430 3238430 + Missense_Mutation SNP G G A rs34070401 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:3238430G>A ENST00000217939.6 - 5 5450 c.5296C>T c.(5296-5298)Cca>Tca p.P1766S NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1766 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TAGGAACCTGGAATAACTTTT 0.522000 18 11 0 0 0.012319 0 0 TNFRSF11B 4982 broad.mit.edu 37 8 119938929 119938929 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:119938929G>A ENST00000297350.4 - 4 999 c.621C>T c.(619-621)ttC>ttT p.F207F NM_002546.3 NP_002537.3 O00300 TR11B_HUMAN tumor necrosis factor receptor superfamily, member 11b 207 Death 1. 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) CAGCAAACCTGAAGAATGCCT 0.403000 9 17 0 0 0.004482 0 0 FILIP1 27145 broad.mit.edu 37 6 76022532 76022532 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:76022532G>A ENST00000393004.2 - 5 3237 c.3016C>T c.(3016-3018)Cct>Tct p.P1006S FILIP1_ENST00000237172.7_Missense_Mutation_p.P1006S|FILIP1_ENST00000370020.1_Missense_Mutation_p.P907S|FILIP1_ENST00000498523.1_5'UTR Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 1006 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 ATCTGAATAGGGGATGTGGGC 0.507000 27 67 0 0 0.007291 0 0 P2RY2 5029 broad.mit.edu 37 11 72945458 72945458 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:72945458C>T ENST00000311131.2 + 3 721 c.254C>T c.(253-255)tCc>tTc p.S85F P2RY2_ENST00000393596.2_Missense_Mutation_p.S85F|P2RY2_ENST00000393597.2_Missense_Mutation_p.S85F NM_002564.2|NM_176072.1 NP_002555.2|NP_788086.1 P41231 P2RY2_HUMAN purinergic receptor P2Y, G-protein coupled, 2 85 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 Suramin(DB04786) TATGCGGCCTCCCTGCCGCTG 0.587000 5 47 0 0 0.000602 0 0 PTPRN 5798 broad.mit.edu 37 2 220168539 220168539 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:220168539C>T ENST00000295718.2 - 4 535 c.295G>A c.(295-297)Gat>Aat p.D99N AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.D9N|PTPRN_ENST00000409251.3_Missense_Mutation_p.D99N NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 99 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GTGAGGTCATCGTGCCAGGAC 0.577000 13 15 0 0 0.013537 0 0 CMYA5 202333 broad.mit.edu 37 5 79026948 79026948 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:79026948G>A ENST00000446378.2 + 2 2391 c.2360G>A c.(2359-2361)gGa>gAa p.G787E NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 787 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) GAGGACCTAGGAAGTGAACGT 0.468000 13 27 0 0 0.001855 0 0 FBXO41 150726 broad.mit.edu 37 2 73490898 73490898 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:73490898G>A ENST00000521871.1 - 8 2398 c.1983C>T c.(1981-1983)atC>atT p.I661I FBXO41_ENST00000520530.2_Silent_p.I661I|FBXO41_ENST00000295133.5_Silent_p.I722I Q8TF61 FBX41_HUMAN F-box protein 41 661 intracellular protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1) 13 AGATGCGCAGGATCAGCAGGT 0.642000 23 46 0 0 0.003330 0 0 DHX57 90957 broad.mit.edu 37 2 39088456 39088456 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:39088456G>A ENST00000295373.6 - 5 1222 c.1096C>T c.(1096-1098)Ccc>Tcc p.P366S DHX57_ENST00000479345.2_5'UTR NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 366 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) GCTTGGTAGGGATATTTGTGG 0.363000 5 25 0 0 0.000602 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885275 88885275 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:88885275C>T ENST00000319675.3 - 1 1021 c.925G>A c.(925-927)Gaa>Aaa p.E309K NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 309 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 ACATGACCTTCGTACTGTGTT 0.517000 12 34 0 0 0.013537 0 0 USP6 9098 broad.mit.edu 37 17 5042816 5042816 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:5042816C>T ENST00000574788.1 + 22 3575 c.1345C>T c.(1345-1347)Ctg>Ttg p.L449L USP6_ENST00000250066.6_Silent_p.L449L|USP6_ENST00000332776.4_Silent_p.L449L|USP6_ENST00000304328.5_Silent_p.L132L P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 449 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CTGGAGATTCCTGGAGTGGAA 0.617000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 26 25 0 0 0.009535 0 0 HMGB4 127540 broad.mit.edu 37 1 34330148 34330148 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:34330148C>T ENST00000522796.1 + 4 2261 c.356C>T c.(355-357)tCg>tTg p.S119L HMGB4_ENST00000519684.1_Missense_Mutation_p.S119L|HMGB4_ENST00000425537.1_3'UTR|CSMD2_ENST00000373381.4_Intron B2R4X7 B2R4X7_HUMAN high mobility group box 4 119 nucleus DNA binding NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CCGAACTGGTCGGTGGTGCAG 0.567000 32 42 0 0 0.010818 0 0 LIN28B 389421 broad.mit.edu 37 6 105474336 105474336 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:105474336A>T ENST00000345080.4 + 3 565 c.362A>T c.(361-363)aAa>aTa p.K121I NM_001004317.3 NP_001004317.1 Q6ZN17 LN28B_HUMAN lin-28 homolog B (C. elegans) 121 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) ACACTACAGAAAAGAAAACCA 0.373000 27 53 0 0 0.005443 0 0 BANF2 140836 broad.mit.edu 37 20 17716333 17716333 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:17716333C>T ENST00000246090.5 + 4 412 c.150C>T c.(148-150)ttC>ttT p.F50F BANF2_ENST00000467330.1_3'UTR|BANF2_ENST00000545418.2_Silent_p.F57F|BANF2_ENST00000377805.3_Silent_p.F50F NM_178477.4 NP_848572.3 Q9H503 BAFL_HUMAN barrier to autointegration factor 2 50 cytoplasm|nucleus DNA binding large_intestine(1)|lung(1)|prostate(3)|skin(1) 6 TGGGACAATTCCTTCTGATGC 0.542000 17 67 0 0 0.008871 0 0 RHOU 58480 broad.mit.edu 37 1 228879409 228879409 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:228879409G>A ENST00000366691.3 + 3 1365 c.699G>A c.(697-699)aaG>aaA p.K233K NM_021205.5 NP_067028.1 Q7L0Q8 RHOU_HUMAN ras homolog family member U 233 regulation of small GTPase mediated signal transduction cell projection|cytosol|focal adhesion|Golgi membrane|podosome GTP binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1) 13 Breast(184;0.162) Prostate(94;0.183) AACAGCCAAAGAAGTCTAAAA 0.458000 47 74 0 0 0.014410 0 0 TENM4 26011 broad.mit.edu 37 11 78380134 78380134 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:78380134C>T ENST00000278550.7 - 32 7718 c.7256G>A c.(7255-7257)cGa>cAa p.R2419Q NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 ATCATAATCTCGCCGGCCCAT 0.517000 4 15 0 0 0.009096 0 0 EPHA6 285220 broad.mit.edu 37 3 96706372 96706372 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:96706372G>A ENST00000389672.5 + 3 687 c.649G>A c.(649-651)Gaa>Aaa p.E217K EPHA6_ENST00000542517.1_Missense_Mutation_p.E123K|EPHA6_ENST00000470610.2_Missense_Mutation_p.E217K NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 122 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 GACTTGCAAAGAAACATTTAA 0.398000 23 74 0 0 0.014323 0 0 TECTA 7007 broad.mit.edu 37 11 120984337 120984337 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:120984337C>T ENST00000392793.1 + 6 971 c.700C>T c.(700-702)Cag>Tag p.Q234* TECTA_ENST00000264037.2_Nonsense_Mutation_p.Q234* O75443 TECTA_HUMAN tectorin alpha 234 NIDO. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CGTGAATATCCAGGAGACCAC 0.493000 4 31 0 0 0.009096 0 0 GPR84 53831 broad.mit.edu 37 12 54756450 54756450 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:54756450G>A ENST00000551809.1 - 1 1821 c.1186C>T c.(1186-1188)Cat>Tat p.H396Y GPR84_ENST00000267015.3_Missense_Mutation_p.H396Y|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA Q9NQS5 GPR84_HUMAN G protein-coupled receptor 84 396 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1) 18 CAGTTCTAATGGAGCCTATGG 0.493000 71 148 0 0 0.014410 0 0 FAM194A 131831 broad.mit.edu 37 3 150396255 150396255 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:150396255G>A ENST00000295910.6 - 10 1250 c.1198C>T c.(1198-1200)Caa>Taa p.Q400* FAM194A_ENST00000491361.1_Nonsense_Mutation_p.Q254* NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 400 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TTTCTTAGTTGAAAATCAAAT 0.289000 5 38 0 0 0.000602 0 0 PVRL4 81607 broad.mit.edu 37 1 161044424 161044424 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:161044424G>A ENST00000368012.3 - 5 1279 c.977C>T c.(976-978)tCt>tTt p.S326F PVRL4_ENST00000453926.2_Missense_Mutation_p.S60F NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 326 Ig-like C2-type 2. adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) AGTGACCTGAGAATCCCTTGA 0.557000 35 43 0 0 0.007835 0 0 PCSK1 5122 broad.mit.edu 37 5 95734703 95734703 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:95734703G>A ENST00000311106.3 - 11 1705 c.1468C>T c.(1468-1470)Cca>Tca p.P490S CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Missense_Mutation_p.P443S NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 490 cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCTCTTGTTGGAATTTCAATG 0.358000 5 10 0 0 0.001168 0 0 LRRC32 2615 broad.mit.edu 37 11 76371827 76371827 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:76371827C>T ENST00000407242.2 - 3 1052 c.810G>A c.(808-810)ctG>ctA p.L270L AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Silent_p.L270L|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Silent_p.L270L NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 270 integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 TGGACAAGTTCAGGTAGATGA 0.642000 8 59 0 0 0.006214 0 0 SATB1 6304 broad.mit.edu 37 3 18393507 18393507 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:18393507G>A ENST00000338745.6 - 10 3490 c.1756C>T c.(1756-1758)Cat>Tat p.H586Y SATB1_ENST00000454909.2_Missense_Mutation_p.H586Y|SATB1_ENST00000417717.2_Missense_Mutation_p.H586Y|TBC1D5_ENST00000414318.2_Intron NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 586 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 GCTGGAACATGGATAATGTGG 0.468000 37 87 0 0 0.013114 0 0 ZNF852 285346 broad.mit.edu 37 3 44541329 44541329 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:44541329G>A ENST00000436261.1 - 4 1100 c.940C>T c.(940-942)Ctc>Ttc p.L314F ZNF852_ENST00000489411.1_5'UTR B6EU87 B6EU87_HUMAN zinc finger protein 852 314 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|lung(5) 8 TGGTCAATGAGATTTCTATTG 0.403000 9 28 0 0 0.006214 0 0 ENAM 10117 broad.mit.edu 37 4 71510536 71510536 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:71510536G>A ENST00000396073.3 + 9 3674 c.3393G>A c.(3391-3393)caG>caA p.Q1131Q ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 1131 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) CCAATGTACAGGACCAGGTAC 0.423000 7 19 0 0 0.004482 0 0 ZNF28 7576 broad.mit.edu 37 19 53304598 53304598 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:53304598G>A ENST00000438150.2 - 2 1234 c.341C>T c.(340-342)tCt>tTt p.S114F ZNF28_ENST00000360272.4_Missense_Mutation_p.S114F|ZNF28_ENST00000414252.2_Missense_Mutation_p.S114F|ZNF28_ENST00000457749.2_Missense_Mutation_p.S167F P17035 ZNF28_HUMAN zinc finger protein 28 167 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) ATTGTTGATAGACTTCTCAAC 0.368000 25 117 0 0 0.005443 0 0 FAM73B 84895 broad.mit.edu 37 9 131802941 131802941 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:131802941C>T ENST00000277475.5 + 2 254 c.68C>T c.(67-69)cCc>cTc p.P23L FAM73B_ENST00000406926.2_Missense_Mutation_p.P23L|FAM73B_ENST00000474534.1_3'UTR|FAM73B_ENST00000358369.4_Missense_Mutation_p.P23L Q7L4E1 FA73B_HUMAN family with sequence similarity 73, member B 23 integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1) 13 GCCGAGATCCCCGTGTTCCTG 0.612000 8 55 0 0 0.013537 0 0 TOX3 27324 broad.mit.edu 37 16 52502482 52502482 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:52502482C>T ENST00000219746.9 - 2 376 c.92G>A c.(91-93)gGa>gAa p.G31E TOX3_ENST00000407228.3_Missense_Mutation_p.G27E NM_001080430.2 NP_001073899.2 O15405 TOX3_HUMAN TOX high mobility group box family member 3 31 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1) 24 ATTATTATTTCCAAACTGAAA 0.363000 4 63 0 0 0.009096 0 0 MRGPRE 116534 broad.mit.edu 37 11 3249928 3249928 + Silent SNP G G C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:3249928G>C ENST00000389832.5 - 2 408 c.102C>G c.(100-102)ctC>ctG p.L34L AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.L33L Q86SM8 MRGRE_HUMAN MAS-related GPR, member E 33 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 19 Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19) CACCGAGGCCGAGCCCCTCGG 0.647000 23 48 0 0 0.003954 0 0 SLC28A2 9153 broad.mit.edu 37 15 45561668 45561668 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:45561668C>T ENST00000347644.3 + 14 1566 c.1501C>T c.(1501-1503)Caa>Taa p.Q501* CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA NM_004212.3 NP_004203.2 O43868 S28A2_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 2 501 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) GCAACTGTCTCAATACAAGAA 0.433000 16 27 0 0 0.003163 0 0 FAM171B 165215 broad.mit.edu 37 2 187626958 187626958 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:187626958C>T ENST00000304698.5 + 8 2092 c.1889C>T c.(1888-1890)tCc>tTc p.S630F NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 630 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 TTACTGGAATCCGTCTCTGTT 0.488000 18 62 0 0 0.008871 0 0 CYP4A22 284541 broad.mit.edu 37 1 47603166 47603166 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:47603166C>T ENST00000371891.3 + 1 40 c.9C>T c.(7-9)gtC>gtT p.V3V CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Silent_p.V3V|CYP4A22_ENST00000294337.3_Silent_p.V3V NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 3 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 CCATGAGTGTCTCTGTCCTGA 0.602000 26 66 0 0 0.005443 0 0 SNRNP200 23020 broad.mit.edu 37 2 96944689 96944689 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:96944689G>A ENST00000323853.5 - 37 5258 c.5181C>T c.(5179-5181)caC>caT p.H1727H SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 1727 Helicase C-terminal 2. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 AGTGGTCCAGGTGAGATTCTA 0.458000 14 56 0 0 0.003163 0 0 DAZAP1 26528 broad.mit.edu 37 19 1434803 1434803 + Silent SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:1434803C>A ENST00000233078.4 + 12 1277 c.1116C>A c.(1114-1116)tcC>tcA p.S372S DAZAP1_ENST00000336761.6_3'UTR NM_018959.2 NP_061832.2 Q96EP5 DAZP1_HUMAN DAZ associated protein 1 372 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCCTCCTTCCTACGGGGGTC 0.687000 11 33 0.00136819 0.00147908 0.013537 1 0 MUC17 140453 broad.mit.edu 37 7 100683951 100683951 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:100683951C>T ENST00000306151.4 + 3 9318 c.9254C>T c.(9253-9255)tCa>tTa p.S3085L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3085 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.S3085*(1) 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) GAAGTCAGTTCATCTCCTACA 0.522000 66 185 0 0 0.014410 0 0 CALB2 794 broad.mit.edu 37 16 71423714 71423714 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:71423714G>A ENST00000302628.4 + 11 839 c.762G>A c.(760-762)ggG>ggA p.G254G CALB2_ENST00000349553.5_3'UTR NM_001740.4 NP_001731.2 P22676 CALB2_HUMAN calbindin 2 254 EF-hand 6. calcium ion binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(137;0.125) CAGAGGCAGGGAAGCTCTACC 0.552000 20 105 0 0 0.010504 0 0 GDAP1L1 78997 broad.mit.edu 37 20 42907894 42907894 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:42907894G>A ENST00000342560.5 + 6 1146 c.1058G>A c.(1057-1059)gGg>gAg p.G353E GDAP1L1_ENST00000537864.1_Missense_Mutation_p.G161E NM_001256737.1|NM_024034.4 NP_001243666.1|NP_076939.3 Q96MZ0 GD1L1_HUMAN ganglioside induced differentiation associated protein 1-like 1 353 endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1) 18 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TCCCTGGGTGGGATGGGCTAC 0.577000 51 84 0 0 0.014410 0 0 SLC2A9 56606 broad.mit.edu 37 4 9828112 9828112 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:9828112C>T ENST00000506583.1 - 14 1662 c.1445G>A c.(1444-1446)aGc>aAc p.S482N SLC2A9_ENST00000264784.3_Missense_Mutation_p.S511N|SLC2A9_ENST00000309065.3_Missense_Mutation_p.S482N Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 511 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 AAATGCCTGGCTGATTTCTGC 0.418000 36 43 0 0 0.013726 0 0 SALL1 6299 broad.mit.edu 37 16 51172967 51172967 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:51172967G>A ENST00000440970.1 - 2 3306 c.2875C>T c.(2875-2877)Ctg>Ttg p.L959L SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Silent_p.L1056L NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 1056 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TGGGATGGCAGATCTCGCATC 0.478000 12 23 0 0 0.010729 0 0 SPDYC 387778 broad.mit.edu 37 11 64939997 64939997 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:64939997G>A ENST00000377185.2 + 5 519 c.437G>A c.(436-438)gGg>gAg p.G146E NM_001008778.1 NP_001008778.1 Q5MJ68 SPDYC_HUMAN speedy/RINGO cell cycle regulator family member C 146 Speedy/Ringo box; Required for CDK- binding (By similarity). cell cycle nucleus protein kinase binding breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1) 16 TTACGAGTGGGGAAATTCCTG 0.567000 17 61 0 0 0.004007 0 0 WDR96 80217 broad.mit.edu 37 10 105923860 105923860 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:105923860C>T ENST00000357060.3 - 24 3353 c.3238G>A c.(3238-3240)Gat>Aat p.D1080N WDR96_ENST00000428666.1_Missense_Mutation_p.D1081N NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 1080 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 ACCTCCTCATCTTGCACAACA 0.443000 10 30 0 0 0.010729 0 0 ADAM2 2515 broad.mit.edu 37 8 39627020 39627020 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:39627020G>A ENST00000265708.4 - 12 1206 c.1103C>T c.(1102-1104)tCc>tTc p.S368F ADAM2_ENST00000521880.1_Missense_Mutation_p.S368F|ADAM2_ENST00000347580.4_Missense_Mutation_p.S349F|ADAM2_ENST00000379853.2_Missense_Mutation_p.S242F NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 368 Peptidase M12B. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) AAGACACTGGGACTTCTGCTT 0.423000 6 23 0 0 0.001168 0 0 ADCY5 111 broad.mit.edu 37 3 123022947 123022947 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:123022947G>A ENST00000462833.1 - 13 3738 c.2526C>T c.(2524-2526)atC>atT p.I842I ADCY5_ENST00000309879.5_Silent_p.I492I|ADCY5_ENST00000491190.1_Silent_p.I475I NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 842 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) ACACCAGGGTGATGGTGAACA 0.607000 9 20 0 0 0.010729 0 0 ELAVL2 1993 broad.mit.edu 37 9 23704986 23704986 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:23704986C>T ENST00000397312.2 - 4 691 c.417G>A c.(415-417)aaG>aaA p.K139K ELAVL2_ENST00000380117.1_Silent_p.K139K|ELAVL2_ENST00000380110.4_Silent_p.K168K|ELAVL2_ENST00000544538.1_Silent_p.K139K|ELAVL2_ENST00000223951.6_Silent_p.K139K NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 139 RRM 2. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) GTTCCAACTCCTTCTGGGTCA 0.423000 31 55 0 0 0.008361 0 0 TMEM132A 54972 broad.mit.edu 37 11 60694698 60694698 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:60694698G>A ENST00000005286.4 + 2 276 c.123G>A c.(121-123)ctG>ctA p.L41L TMEM132A_ENST00000453848.2_Silent_p.L41L NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 41 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 AGGCTCCCCTGGACCCTGTCT 0.637000 41 57 0 0 0.013114 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68244434 68244434 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:68244434C>T ENST00000347230.4 - 25 4954 c.4816G>A c.(4816-4818)Gac>Aac p.D1606N ZFYVE26_ENST00000555452.1_Missense_Mutation_p.D1606N NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1606 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) ATGGTGGGGTCAGGGATTCTT 0.498000 14 48 0 0 0.004007 0 0 MIR323A 442897 broad.mit.edu 37 14 101492091 101492091 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:101492091C>T ENST00000362199.1 + 0 23 NR_029890.1 GAGAGGTGGTCCGTGGCGCGT 0.532000 48 79 0 0 0.014410 0 0 COL20A1 57642 broad.mit.edu 37 20 61959771 61959771 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:61959771C>T ENST00000422202.1 + 33 3809 c.3741C>T c.(3739-3741)ccC>ccT p.P1247P COL20A1_ENST00000326996.6_Silent_p.P1266P|COL20A1_ENST00000358894.6_Silent_p.P1234P|COL20A1_ENST00000435874.1_Silent_p.P1247P Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 1234 cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) GCACTGAGCCCCTGGGGTCCC 0.657000 10 17 0 0 0.006214 0 0 CALML5 51806 broad.mit.edu 37 10 5541241 5541241 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:5541241G>A ENST00000380332.3 - 1 292 c.161C>T c.(160-162)tCc>tTc p.S54F NM_017422.4 NP_059118.2 Q9NZT1 CALL5_HUMAN calmodulin-like 5 54 EF-hand 2. epidermis development|signal transduction calcium ion binding|protein binding biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1) 8 GTCAACCTCGGAGATGAGTTT 0.647000 11 41 0 0 0.010729 0 0 C11orf45 219833 broad.mit.edu 37 11 128774390 128774390 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:128774390G>A ENST00000310799.3 - 2 265 c.72C>T c.(70-72)atC>atT p.I24I KCNJ5_ENST00000529694.1_Intron|C11orf45_ENST00000530168.1_5'UTR|C11orf45_ENST00000524878.1_Silent_p.I24I|KCNJ5_ENST00000338350.4_Intron NM_001256088.1|NM_145013.2 NP_001243017.1|NP_659450.1 Q8TAV5 CK045_HUMAN chromosome 11 open reading frame 45 24 extracellular region endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2) 7 all_hematologic(175;0.0641) Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195) gctcccagctgatggcagcgt 0.587000 7 65 0 0 0.003080 0 0 MUC16 94025 broad.mit.edu 37 19 9019338 9019338 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9019338G>A ENST00000397910.4 - 23 37752 c.37549C>T c.(37549-37551)Cct>Tct p.P12517S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12519 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 GAGGTCCCAGGAGCTGAGAAA 0.483000 13 18 0 0 0.004007 0 0 C6orf25 80739 broad.mit.edu 37 6 31692645 31692645 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:31692645G>A ENST00000375810.4 + 5 704 c.664G>A c.(664-666)Gga>Aga p.G222R C6orf25_ENST00000480039.1_Silent_p.G215G|C6orf25_ENST00000375805.2_Intron|C6orf25_ENST00000375809.3_Intron O95866 G6B_HUMAN chromosome 6 open reading frame 25 0 endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 9 GATGGGAAGGGGATAGCCAGA 0.537000 67 156 0 0 0.014410 0 0 TGIF2 60436 broad.mit.edu 37 20 35219809 35219809 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:35219809C>T ENST00000373874.2 + 3 888 c.689C>T c.(688-690)cCt>cTt p.P230L TGIF2_ENST00000373872.4_Missense_Mutation_p.P230L|RP5-977B1.11_ENST00000561134.1_RNA|TGIF2-C20orf24_ENST00000558530.1_Intron NM_001199514.1|NM_001199515.1 NP_001186443.1|NP_001186444.1 Q9GZN2 TGIF2_HUMAN TGFB-induced factor homeobox 2 230 Repressive function. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) ACTCCCATCCCTTTAGTCTCT 0.552000 41 87 0 0 0.014410 0 0 SERPINB9 5272 broad.mit.edu 37 6 2890586 2890586 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:2890586G>A ENST00000380698.4 - 7 1031 c.942C>T c.(940-942)ttC>ttT p.F314F NM_004155.5 NP_004146.1 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 9 314 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 15 Ovarian(93;0.0412) all_hematologic(90;0.108) TCTTGTGCACGAACTTGGACA 0.537000 10 73 0 0 0.008291 0 0 PDGFRA 5156 broad.mit.edu 37 4 55156585 55156585 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:55156585G>A ENST00000257290.5 + 22 3317 c.2986G>A c.(2986-2988)Gag>Aag p.E996K FIP1L1_ENST00000507166.1_Missense_Mutation_p.E756K NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 996 E -> K (in a metastatic melanoma sample; somatic mutation). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity p.E996K(1) NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CTACAAAAACGAGGAAGACAA 0.517000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 32 26 0 0 0.004289 0 0 SPEF2 79925 broad.mit.edu 37 5 35727890 35727890 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:35727890G>A ENST00000440995.2 + 21 3013 c.3013G>A c.(3013-3015)Gaa>Aaa p.E1005K SPEF2_ENST00000356031.3_Missense_Mutation_p.E1010K|CTD-2113L7.1_ENST00000510433.1_RNA Q9C093 SPEF2_HUMAN sperm flagellar 2 1010 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GCCAGGATCAGAAGAATGGGT 0.423000 8 36 0 0 0.006214 0 0 CUBN 8029 broad.mit.edu 37 10 16948208 16948208 + Nonsense_Mutation SNP G G A rs137998687 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:16948208G>A ENST00000377833.4 - 50 7971 c.7906C>T c.(7906-7908)Cga>Tga p.R2636* NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 2636 CUB 19. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TCACCCACTCGAAACTCGAGG 0.363000 6 11 0 0 0.001168 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110451198 110451198 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:110451198G>A ENST00000378402.5 + 32 3937 c.3833G>A c.(3832-3834)gGa>gAa p.G1278E NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1278 IPT/TIG 6. 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) GTGTATGTTGGAGGAAAAACC 0.343000 HNSCC(38;0.096) 13 45 0 0 0.013537 0 0 ACTRT2 140625 broad.mit.edu 37 1 2938890 2938890 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:2938890G>A ENST00000378404.2 + 1 845 c.640G>A c.(640-642)Gac>Aac p.D214N NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 214 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) GGGTCTCGTGGACGACATCAA 0.642000 21 54 0 0 0.014323 0 0 NDUFS8 4728 broad.mit.edu 37 11 67800722 67800722 + Missense_Mutation SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:67800722A>C ENST00000313468.5 + 5 451 c.344A>C c.(343-345)aAg>aCg p.K115T NDUFS8_ENST00000528492.1_Intron NM_002496.3 NP_002487.1 O00217 NDUS8_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) 115 4Fe-4S ferredoxin-type 1. mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity endometrium(1)|kidney(1)|lung(5)|skin(1) 8 NADH(DB00157) ATTGCCTGCAAGCTCTGCGAG 0.701000 3 18 0 0 0.004672 0 0 SEZ6L 23544 broad.mit.edu 37 22 26706748 26706748 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:26706748G>A ENST00000529632.2 + 7 1823 c.1627G>A c.(1627-1629)Gag>Aag p.E543K SEZ6L_ENST00000403121.1_Missense_Mutation_p.E316K|SEZ6L_ENST00000404234.3_Missense_Mutation_p.E543K|SEZ6L_ENST00000343706.4_Missense_Mutation_p.E543K|SEZ6L_ENST00000248933.6_Missense_Mutation_p.E543K|SEZ6L_ENST00000402979.1_Missense_Mutation_p.E316K|SEZ6L_ENST00000360929.3_Missense_Mutation_p.E543K 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 543 CUB 2. endoplasmic reticulum membrane|integral to membrane p.E543Q(1) 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 CATCCGCATCGAGTTCACGTC 0.597000 26 89 0 0 0.012213 0 0 CEACAM6 4680 broad.mit.edu 37 19 42266060 42266060 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:42266060C>T ENST00000199764.6 + 4 1105 c.887C>T c.(886-888)tCc>tTc p.S296F AC011513.4_ENST00000601409.1_RNA NM_002483.4 NP_002474.3 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) 296 Ig-like C2-type 2. cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) AATAGCGGATCCTATATGTGC 0.473000 18 44 0 0 0.008871 0 0 IQUB 154865 broad.mit.edu 37 7 123152009 123152009 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:123152009G>A ENST00000466202.1 - 2 962 c.386C>T c.(385-387)tCt>tTt p.S129F IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Missense_Mutation_p.S129F|IQUB_ENST00000434450.1_Missense_Mutation_p.S129F Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 129 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 TGTTGCTAGAGAATCTTCCAC 0.343000 7 29 0 0 0.001984 0 0 SCGN 10590 broad.mit.edu 37 6 25701508 25701508 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:25701508G>A ENST00000377961.2 + 11 944 c.776G>A c.(775-777)gGa>gAa p.G259E SCGN_ENST00000334979.6_3'UTR NM_006998.3 NP_008929.2 O76038 SEGN_HUMAN secretagogin, EF-hand calcium binding protein 259 EF-hand 6. extracellular region|transport vesicle membrane calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 AACAAGGATGGAAAAATTCAG 0.473000 22 41 0 0 0.012319 0 0 KEL 3792 broad.mit.edu 37 7 142638490 142638490 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:142638490C>T ENST00000355265.2 - 19 2522 c.2048G>A c.(2047-2049)aGg>aAg p.R683K NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 683 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GCTGGGCTTCCTACACATCAC 0.607000 22 68 0 0 0.003330 0 0 SPATC1 375686 broad.mit.edu 37 8 145095983 145095983 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:145095983C>T ENST00000377470.3 + 3 1383 c.1281C>T c.(1279-1281)acC>acT p.T427T SPATC1_ENST00000447830.2_Silent_p.T427T NM_198572.2 NP_940974.2 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 427 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACCGCAAGACCAGCAAGTTCC 0.672000 9 25 0 0 0.008291 0 0 FOXO3 2309 broad.mit.edu 37 6 108984918 108984918 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:108984918C>T ENST00000406360.1 + 2 1225 c.882C>T c.(880-882)agC>agT p.S294S FOXO3_ENST00000343882.6_Silent_p.S294S|FOXO3_ENST00000540898.1_Silent_p.S74S NM_001455.3 NP_001446.1 O43524 FOXO3_HUMAN forkhead box O3 294 PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 5; CAA04860). antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) GGCCTGGCAGCCCCACGTCAC 0.637000 4 20 0 0 0.000602 0 0 NCAN 1463 broad.mit.edu 37 19 19351455 19351455 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:19351455C>T ENST00000252575.5 + 12 3496 c.3453C>T c.(3451-3453)atC>atT p.I1151I NCAN_ENST00000538881.1_Silent_p.I602I NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 1151 C-type lectin. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) ACGACAGGATCGTGGAGAGAG 0.637000 20 53 0 0 0.012319 0 0 CPA3 1359 broad.mit.edu 37 3 148599312 148599312 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:148599312A>G ENST00000296046.3 + 7 632 c.580A>G c.(580-582)Acc>Gcc p.T194A RP11-680B3.2_ENST00000488190.1_RNA NM_001870.2 NP_001861.2 P15088 CBPA3_HUMAN carboxypeptidase A3 (mast cell) 194 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) CCGACAGGCAACCAAAACTTA 0.343000 7 22 0 0 0.001984 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518037 113518037 + Missense_Mutation SNP G G A rs145569602 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:113518037G>A ENST00000284601.3 - 4 3178 c.3110C>T c.(3109-3111)tCa>tTa p.S1037L NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 1037 glycogen metabolic process integral to membrane p.S1037*(1) 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 AGTGTATAGTGATTGCCCAGA 0.393000 20 94 0 0 0.012319 0 0 INTS10 55174 broad.mit.edu 37 8 19684029 19684029 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:19684029C>T ENST00000397977.3 + 9 1497 c.1099C>T c.(1099-1101)Cat>Tat p.H367Y NM_018142.2 NP_060612.2 Q9NVR2 INT10_HUMAN integrator complex subunit 10 367 snRNA processing integrator complex protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 20 Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215) TAAACACATCCATAAAAAGAG 0.388000 15 35 0 0 0.002450 0 0 YEATS2 55689 broad.mit.edu 37 3 183469889 183469889 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:183469889C>T ENST00000305135.5 + 10 1193 c.998C>T c.(997-999)tCt>tTt p.S333F NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 333 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CATCGCCATTCTCTCGGAGAA 0.493000 40 78 0 0 0.013114 0 0 COL6A3 1293 broad.mit.edu 37 2 238242165 238242165 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:238242165G>A ENST00000295550.4 - 42 9708 c.9256C>T c.(9256-9258)Cca>Tca p.P3086S COL6A3_ENST00000409809.1_Missense_Mutation_p.P2880S|COL6A3_ENST00000472056.1_Missense_Mutation_p.P2479S|COL6A3_ENST00000347401.3_Missense_Mutation_p.P2885S|COL6A3_ENST00000353578.4_Missense_Mutation_p.P2880S|COL6A3_ENST00000346358.4_Missense_Mutation_p.P2886S NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 3086 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GACCTTGCTGGCTGTGGAGGT 0.428000 17 29 0 0 0.012319 0 0 MYOM1 8736 broad.mit.edu 37 18 3188987 3188987 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:3188987C>T ENST00000400569.3 - 4 863 c.530G>A c.(529-531)gGa>gAa p.G177E MYOM1_ENST00000261606.7_Missense_Mutation_p.G177E|MYOM1_ENST00000356443.4_Missense_Mutation_p.G177E P52179 MYOM1_HUMAN myomesin 1 177 striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TGTTGTGATTCCTTCCTCACT 0.473000 28 78 0 0 0.006320 0 0 AKR1D1 6718 broad.mit.edu 37 7 137776547 137776547 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:137776547C>T ENST00000242375.3 + 3 337 c.295C>T c.(295-297)Cgc>Tgc p.R99C AKR1D1_ENST00000411726.2_Missense_Mutation_p.R99C|AKR1D1_ENST00000468877.2_Intron|AKR1D1_ENST00000432161.1_Missense_Mutation_p.R99C NM_005989.3 NP_005980.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 99 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 AGAGATGGTCCGCCCAACCCT 0.463000 11 35 0 0 0.013537 0 0 OR52E4 390081 broad.mit.edu 37 11 5905919 5905919 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:5905919C>T ENST00000316987.2 + 1 419 c.397C>T c.(397-399)Cag>Tag p.Q133* NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 133 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAACCCTCTCCAGTACACCAT 0.423000 32 71 0 0 0.013726 0 0 TMEM68 137695 broad.mit.edu 37 8 56668905 56668905 + Nonsense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:56668905C>A ENST00000434581.2 - 4 590 c.391G>T c.(391-393)Gga>Tga p.G131* TMEM68_ENST00000334667.2_Nonsense_Mutation_p.G131*|TMEM68_ENST00000523073.1_Nonsense_Mutation_p.G17*|TMEM68_ENST00000519784.1_Nonsense_Mutation_p.G17* Q96MH6 TMM68_HUMAN transmembrane protein 68 131 integral to membrane acyltransferase activity NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 Epithelial(17;0.000361)|all cancers(17;0.00326) GGAATAGCTCCATGATAAAAA 0.308000 6 49 5.9392e-07 6.4635e-07 0.001168 1 0 XKR3 150165 broad.mit.edu 37 22 17288676 17288676 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:17288676C>T ENST00000331428.5 - 2 390 c.288G>A c.(286-288)aaG>aaA p.K96K NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 96 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GTAATGCAGCCTTATTTCTCC 0.348000 12 48 0 0 0.002450 0 0 SDR42E1 93517 broad.mit.edu 37 16 82033103 82033103 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:82033103G>A ENST00000328945.5 - 3 922 c.795C>T c.(793-795)ttC>ttT p.F265F NM_145168.2 NP_660151.2 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, member 1 265 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 GAGGCCGGAAGAACTCAAAGT 0.537000 22 50 0 0 0.012319 0 0 NEB 4703 broad.mit.edu 37 2 152370118 152370118 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:152370118C>T ENST00000397345.3 - 160 23419 c.23217G>A c.(23215-23217)agG>agA p.R7739R NEB_ENST00000172853.10_Silent_p.R6038R|NEB_ENST00000603639.1_Silent_p.R7739R|NEB_ENST00000427231.2_Silent_p.R7739R|NEB_ENST00000604864.1_Silent_p.R7739R|NEB_ENST00000409198.1_Silent_p.R6038R NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 6038 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CAGTAGCATTCCTGGCCCTCA 0.428000 7 13 0 0 0.003080 0 0 BCAM 4059 broad.mit.edu 37 19 45315788 45315788 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:45315788G>A ENST00000391955.1 + 4 531 c.487G>A c.(487-489)Gag>Aag p.E163K BCAM_ENST00000270233.6_Missense_Mutation_p.E163K P50895 BCAM_HUMAN basal cell adhesion molecule (Lutheran blood group) 163 Ig-like V-type 2. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) GTCTGTGATGGAGGACTCTGC 0.647000 86 213 0 0 0.014410 0 0 DPY19L2P1 554236 broad.mit.edu 37 7 35130016 35130016 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:35130016G>A ENST00000436258.1 - 0 3353 TTCTTTGGCAGATTTTCGACT 0.289000 32 68 0 0 0.013726 0 0 FCGR3A 2214 broad.mit.edu 37 1 161518461 161518461 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:161518461G>A ENST00000367969.3 - 3 360 c.177C>T c.(175-177)ctC>ctT p.L59L FCGR3A_ENST00000436743.1_Silent_p.L23L|FCGR3A_ENST00000540048.1_Silent_p.L23L|FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000443193.1_Silent_p.L58L NM_000569.6 NP_000560.5 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor (CD16a) 23 Ig-like C2-type 1. immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) 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) CAGCCTTTGGGAGATCTTCTG 0.552000 13 66 0 0 0.004007 0 0 TNRC6C 57690 broad.mit.edu 37 17 76094571 76094571 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:76094571C>T ENST00000335749.4 + 18 5131 c.4562C>T c.(4561-4563)tCc>tTc p.S1521F TNRC6C_ENST00000588061.1_Missense_Mutation_p.S1485F|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S1521F|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1521F|TNRC6C_ENST00000301624.4_Missense_Mutation_p.S1485F|TNRC6C_ENST00000541771.1_Missense_Mutation_p.S1485F NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 1485 Sufficient for translational repression when tethered to a target mRNA. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) AAGCCCTCCTCCACCTGGGGT 0.602000 34 27 0 0 0.006999 0 0 PCDH19 57526 broad.mit.edu 37 X 99661934 99661934 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:99661934G>A ENST00000373034.4 - 1 3337 c.1662C>T c.(1660-1662)ctC>ctT p.L554L PCDH19_ENST00000420881.2_Silent_p.L554L|PCDH19_ENST00000255531.7_Silent_p.L554L NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 554 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 CGTTGACGTCGAGGATGATGA 0.582000 48 27 0 0 0.014410 0 0 PXDNL 137902 broad.mit.edu 37 8 52321692 52321692 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:52321692G>A ENST00000356297.4 - 17 2592 c.2492C>T c.(2491-2493)cCg>cTg p.P831L PXDNL_ENST00000543296.1_Missense_Mutation_p.P831L NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 831 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) GGAGCTGCACGGCCGCCCATC 0.667000 3 17 0 0 0.004672 0 0 TJP2 9414 broad.mit.edu 37 9 71842716 71842716 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:71842716C>T ENST00000377245.4 + 8 1454 c.1246C>T c.(1246-1248)Cca>Tca p.P416S TJP2_ENST00000453658.2_Missense_Mutation_p.P393S|TJP2_ENST00000348208.4_Missense_Mutation_p.P416S|TJP2_ENST00000265384.7_Missense_Mutation_p.P416S|TJP2_ENST00000535702.1_Missense_Mutation_p.P420S|TJP2_ENST00000539225.1_Missense_Mutation_p.P447S NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 416 cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 ATCATTTTCTCCAGAGGAGAG 0.318000 5 16 0 0 0.004482 0 0 RHCE 6006 broad.mit.edu 37 1 25712324 25712324 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:25712324G>A ENST00000349320.3 - 9 1291 c.903C>T c.(901-903)aaC>aaT p.N301N RHCE_ENST00000349438.4_Intron|RHCE_ENST00000340849.4_Silent_p.N212N|RHCE_ENST00000294413.7_Silent_p.N317N|RHCE_ENST00000346452.4_Silent_p.N166N|RHCE_ENST00000425135.1_Intron|RHCE_ENST00000374352.2_Silent_p.N301N|RHCE_ENST00000243186.6_Silent_p.N317N|RHCE_ENST00000413854.1_Silent_p.N317N|RHCE_ENST00000455194.1_Silent_p.N212N P18577 RHCE_HUMAN Rh blood group, CcEe antigens 317 integral to plasma membrane endometrium(8)|large_intestine(6)|lung(3) 17 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649) CCAGCACTCGGTTACAACACA 0.517000 42 86 0 0 0.011902 0 0 FNDC9 408263 broad.mit.edu 37 5 156770295 156770295 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:156770295G>A ENST00000312349.4 - 2 437 c.250C>T c.(250-252)Cct>Tct p.P84S CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000521420.1_Intron NM_001001343.3 NP_001001343.2 Q8TBE3 FNDC9_HUMAN fibronectin type III domain containing 9 84 Fibronectin type-III. integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 9 TGCCTGTAAGGGAAGGCAGCC 0.567000 OREG0016977 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 43 0 0 0.002450 0 0 NPC1L1 29881 broad.mit.edu 37 7 44556493 44556493 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:44556493G>A ENST00000289547.4 - 17 3464 c.3409C>T c.(3409-3411)Cct>Tct p.P1137S NPC1L1_ENST00000381160.3_Missense_Mutation_p.P1110S|NPC1L1_ENST00000546276.1_Missense_Mutation_p.P1064S NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 1137 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) AGCCCCTCAGGGAGGATGGTC 0.622000 6 26 0 0 0.001984 0 0 URAD 646625 broad.mit.edu 37 13 28562652 28562652 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:28562652C>T ENST00000332715.4 - 1 122 c.123G>A c.(121-123)ttG>ttA p.L41L NM_001105577.1 NP_001099047.1 ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase CTAAATCTTCCAAATCAGAGA 0.463000 5 42 0 0 0.000602 0 0 GPR101 83550 broad.mit.edu 37 X 136112662 136112662 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:136112662C>T ENST00000298110.1 - 1 1171 c.1172G>A c.(1171-1173)aGg>aAg p.R391K NM_054021.1 NP_473362.1 Q96P66 GP101_HUMAN G protein-coupled receptor 101 391 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) CTGGTAGCACCTGGGCAGAGG 0.537000 25 21 0 0 0.004656 0 0 ASPHD1 253982 broad.mit.edu 37 16 29912865 29912865 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:29912865C>T ENST00000308748.5 + 1 825 c.573C>T c.(571-573)ttC>ttT p.F191F ASPHD1_ENST00000483405.1_Intron NM_181718.3 NP_859069.2 Q5U4P2 ASPH1_HUMAN aspartate beta-hydroxylase domain containing 1 191 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(4)|large_intestine(2)|lung(1)|prostate(1) 8 GCCTGCTTTTCCTACCAGACC 0.672000 19 74 0 0 0.008871 0 0 PTPRT 11122 broad.mit.edu 37 20 40790089 40790089 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:40790089C>T ENST00000373198.3 - 18 2886 c.2651G>A c.(2650-2652)cGg>cAg p.R884Q PTPRT_ENST00000373190.1_Missense_Mutation_p.R861Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.R852Q|PTPRT_ENST00000356100.2_Missense_Mutation_p.R871Q|PTPRT_ENST00000373187.1_Missense_Mutation_p.R862Q|PTPRT_ENST00000373193.3_Missense_Mutation_p.R865Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.R852Q NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 862 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) GAACTGGTCCCGGGGGTAGCT 0.612000 20 47 0 0 0.007413 0 0 GH2 2689 broad.mit.edu 37 17 61958450 61958450 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:61958450G>A ENST00000332800.7 - 3 363 c.230C>T c.(229-231)tCc>tTc p.S77F GH2_ENST00000449787.2_Missense_Mutation_p.S62F|GH2_ENST00000456543.2_Missense_Mutation_p.S77F|GH2_ENST00000423893.2_Missense_Mutation_p.S77F NM_002059.4|NM_022557.3|NM_022558.3 NP_002050.1|NP_072051.1|NP_072052.1 P01242 SOM2_HUMAN growth hormone 2 77 extracellular region hormone activity breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 GAAGCAGAGGGAGGTCTGGGG 0.532000 77 125 0 0 0.014410 0 0 INHBA 3624 broad.mit.edu 37 7 41729281 41729281 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:41729281C>T ENST00000242208.4 - 3 1494 c.1248G>A c.(1246-1248)caG>caA p.Q416Q INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Silent_p.Q416Q|AC005027.3_ENST00000416150.1_RNA NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 416 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 CGATCATGTTCTGAATGTCCT 0.483000 TSP Lung(11;0.080) 32 41 0 0 0.005524 0 0 SLC5A7 60482 broad.mit.edu 37 2 108627152 108627152 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:108627152G>A ENST00000264047.2 + 9 1854 c.1578G>A c.(1576-1578)atG>atA p.M526I SLC5A7_ENST00000409059.1_Missense_Mutation_p.M526I|SLC5A7_ENST00000540517.1_Missense_Mutation_p.M421I NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 526 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) AAGAAAACATGGATAAGACAA 0.373000 6 25 0 0 0.001168 0 0 OR2A25 392138 broad.mit.edu 37 7 143772188 143772188 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:143772188G>A ENST00000408898.2 + 1 914 c.876G>A c.(874-876)agG>agA p.R292R NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) ATAGTCTTAGGAACAAGGAAG 0.423000 77 146 0 0 0.014410 0 0 LRRC66 339977 broad.mit.edu 37 4 52861266 52861266 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:52861266G>A ENST00000343457.3 - 4 1928 c.1922C>T c.(1921-1923)tCc>tTc p.S641F NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 641 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 CCTTGCCCCGGACAGCCTTGG 0.532000 21 19 0 0 0.003330 0 0 MYO7B 4648 broad.mit.edu 37 2 128331610 128331610 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:128331610C>T ENST00000389524.4 + 7 761 c.708C>T c.(706-708)ctC>ctT p.L236L MYO7B_ENST00000409816.2_Silent_p.L236L|MYO7B_ENST00000428314.1_Silent_p.L236L Q6PIF6 MYO7B_HUMAN myosin VIIB 236 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) AGCAATTTCTCCTGGAGAAGT 0.597000 46 87 0 0 0.014410 0 0 DENND2C 163259 broad.mit.edu 37 1 115141952 115141952 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:115141952G>A ENST00000393274.1 - 16 2851 c.2226C>T c.(2224-2226)ttC>ttT p.F742F DENND2C_ENST00000393276.3_Silent_p.F685F|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Intron NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 742 DENN. NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-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) TTCCAATAAGGAATGGTGTAG 0.468000 38 71 0 0 0.009718 0 0 KIAA1244 57221 broad.mit.edu 37 6 138657605 138657605 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:138657605C>T ENST00000251691.4 + 34 6682 c.6516C>T c.(6514-6516)gtC>gtT p.V2172V NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 2172 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) TGGGCCGTGTCTATGACATCA 0.557000 17 39 0 0 0.006122 0 0 GAB4 128954 broad.mit.edu 37 22 17445659 17445659 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:17445659G>A ENST00000400588.1 - 8 1580 c.1473C>T c.(1471-1473)ttC>ttT p.F491F NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 491 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) GACTCACCGGGAAAAGATACC 0.562000 12 25 0 0 0.010729 0 0 COL4A4 1286 broad.mit.edu 37 2 227872289 227872289 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:227872289C>T ENST00000396625.3 - 48 5032 c.4825G>A c.(4825-4827)Gac>Aac p.D1609N COL4A4_ENST00000329662.7_Missense_Mutation_p.D1606N NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1609 Collagen IV NC1. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CCTCCTTGGTCCCCAGCTCCT 0.567000 10 38 0 0 0.008291 0 0 EIF3G 8666 broad.mit.edu 37 19 10226423 10226423 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:10226423G>A ENST00000253108.4 - 9 819 c.777C>T c.(775-777)ttC>ttT p.F259F NM_003755.3 NP_003746.2 O75821 EIF3G_HUMAN eukaryotic translation initiation factor 3, subunit G 259 RRM. cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm nucleotide binding|protein binding|translation initiation factor activity central_nervous_system(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05) CGAAAGGCCGGAAGAGCTCCT 0.632000 22 72 0 0 0.002780 0 0 STAB2 55576 broad.mit.edu 37 12 104031985 104031985 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:104031985G>A ENST00000388887.2 + 8 1105 c.901G>A c.(901-903)Gga>Aga p.G301R NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 301 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 TGATGGGCCTGGACAGGTGAG 0.473000 14 9 0 0 0.004007 0 0 CRAMP1L 57585 broad.mit.edu 37 16 1716430 1716430 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:1716430C>T ENST00000397412.3 + 16 2964 c.2865C>T c.(2863-2865)atC>atT p.I955I LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Silent_p.I955I|CRAMP1L_ENST00000262317.4_Silent_p.I333I|CRAMP1L_ENST00000436138.3_Silent_p.I952I Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 955 nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 CAGGTGCTATCGACTTAGCAG 0.572000 4 12 0 0 0.009096 0 0 DCDC2B 149069 broad.mit.edu 37 1 32678136 32678136 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:32678136G>A ENST00000409358.1 + 5 573 c.573G>A c.(571-573)ctG>ctA p.L191L NM_001099434.1 NP_001092904.1 A2VCK2 DCD2B_HUMAN doublecortin domain containing 2B 191 Doublecortin 2. intracellular signal transduction breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) GGAAGGAGCTGGTAACTGGCC 0.587000 33 45 0 0 0.012213 0 0 OR1S2 219958 broad.mit.edu 37 11 57971493 57971493 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:57971493C>T ENST00000302592.6 - 1 160 c.161G>A c.(160-162)gGg>gAg p.G54E NM_001004459.1 NP_001004459.1 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, member 2 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) GAGCCCGTTCCCAACCACAGT 0.458000 23 48 0 0 0.002780 0 0 ZNRF3 84133 broad.mit.edu 37 22 29446881 29446881 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:29446881C>T ENST00000544604.2 + 8 2887 c.2712C>T c.(2710-2712)ttC>ttT p.F904F ZNRF3_ENST00000402174.1_Silent_p.F804F|ZNRF3_ENST00000332811.4_Silent_p.F804F|ZNRF3_ENST00000406323.3_Silent_p.F804F NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 904 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 GGGCCAACTTCCCTAGTGCCC 0.642000 6 16 0 0 0.001168 0 0 DSG3 1830 broad.mit.edu 37 18 29049230 29049230 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:29049230G>A ENST00000257189.4 + 12 1898 c.1815G>A c.(1813-1815)ggG>ggA p.G605G NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 605 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CAAGCCCTGGGACCAGGTATG 0.587000 26 41 0 0 0.003954 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12856020 12856020 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:12856020C>T ENST00000332296.7 + 4 1403 c.1300C>T c.(1300-1302)Cgg>Tgg p.R434W PRAMEF1_ENST00000400814.3_Missense_Mutation_p.R189W NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 434 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) CACCCCACTTCGGGCTGAGCT 0.562000 9 253 0 0 0.004990 0 0 ZNF441 126068 broad.mit.edu 37 19 11888539 11888539 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:11888539C>T ENST00000357901.4 + 2 219 c.117C>T c.(115-117)aaC>aaT p.N39N ZNF441_ENST00000454339.2_5'UTR NM_152355.2 NP_689568.2 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 39 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CCATCAGAAACCTGGACTGTA 0.408000 8 22 0 0 0.003080 0 0 SEPT12 124404 broad.mit.edu 37 16 4827869 4827869 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:4827869C>T ENST00000268231.8 - 10 1269 c.1006G>A c.(1006-1008)Gga>Aga p.G336R SEPT12_ENST00000396693.5_Missense_Mutation_p.G290R NM_144605.4 NP_653206.2 Q8IYM1 SEP12_HUMAN septin 12 336 cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3) 23 GTCAGCTGTCCTGGGGAGGCC 0.647000 6 5 0 0 0.001984 0 0 SNORD115-43 100033817 broad.mit.edu 37 15 25494426 25494426 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:25494426C>T ENST00000365503.1 + 0 82 NR_003303.1|NR_003344.1|NR_003351.1|NR_003358.1 CGCTGAGGCCCAGGCTAGGTG 0.493000 56 126 0 0 0.014410 0 0 SCN1A 6323 broad.mit.edu 37 2 166929916 166929916 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:166929916C>T ENST00000423058.2 - 1 233 c.216G>A c.(214-216)atG>atA p.M72I SCN1A_ENST00000375405.3_Missense_Mutation_p.M72I|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.M72I|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.M72I NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 72 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GCTCTGACACCATCTCTGGAG 0.428000 56 66 0 0 0.014410 0 0 GINS3 64785 broad.mit.edu 37 16 58438588 58438588 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:58438588C>T ENST00000318129.5 + 3 814 c.606C>T c.(604-606)ctC>ctT p.L202L GINS3_ENST00000328514.7_Silent_p.L124L|GINS3_ENST00000426538.2_Silent_p.L241L NM_022770.3 NP_073607.2 Q9BRX5 PSF3_HUMAN GINS complex subunit 3 (Psf3 homolog) 202 DNA replication nucleus NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 7 CTTCCAACCTCGTTCAGAATT 0.478000 11 24 0 0 0.013537 0 0 B3GNT3 10331 broad.mit.edu 37 19 17922514 17922514 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:17922514C>T ENST00000318683.6 + 3 849 c.702C>T c.(700-702)ttC>ttT p.F234F B3GNT3_ENST00000595387.1_Silent_p.F234F NM_014256.3 NP_055071.2 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 234 protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 GCCACCTCTTCGTGGGGCAAC 0.562000 21 42 0 0 0.003954 0 0 WDR31 114987 broad.mit.edu 37 9 116094253 116094253 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:116094253G>A ENST00000374193.4 - 3 296 c.50C>T c.(49-51)tCg>tTg p.S17L WDR31_ENST00000341761.4_Missense_Mutation_p.S17L|WDR31_ENST00000374195.3_5'UTR|WDR31_ENST00000461942.1_Intron NM_001012361.2|NM_145241.3 NP_001012361.1|NP_660284.1 Q8NA23 WDR31_HUMAN WD repeat domain 31 17 NS(1)|large_intestine(1)|lung(2)|prostate(2) 6 AAACCTAAACGAAACCTTCTG 0.458000 17 23 0 0 0.012319 0 0 GBP2 2634 broad.mit.edu 37 1 89582838 89582838 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:89582838G>A ENST00000370466.3 - 6 973 c.705C>T c.(703-705)gtC>gtT p.V235V GBP2_ENST00000463660.1_5'UTR NM_004120.3 NP_004111.2 P32456 GBP2_HUMAN guanylate binding protein 2, interferon-inducible 235 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1) 20 Lung NSC(277;0.0908) all cancers(265;0.0151)|Epithelial(280;0.0284) GCCAATCGAAGACGAAGCACT 0.423000 15 41 0 0 0.004007 0 0 PAPPA2 60676 broad.mit.edu 37 1 176526089 176526089 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:176526089G>A ENST00000367662.3 + 2 1795 c.631G>A c.(631-633)Gga>Aga p.G211R PAPPA2_ENST00000367661.3_Missense_Mutation_p.G211R NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 211 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.G211R(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 AGATGGGCAGGGAGACTCCGG 0.562000 24 57 0 0 0.014323 0 0 TTN 7273 broad.mit.edu 37 2 179465822 179465822 + Silent SNP C C T rs35647804 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179465822C>T ENST00000589042.1 - 288 56033 c.55809G>A c.(55807-55809)ccG>ccA p.P18603P TTN_ENST00000460472.2_Silent_p.P9538P|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Silent_p.P9663P|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.P16035P|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.P9730P|TTN_ENST00000591111.1_Silent_p.P16962P NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16962 Fibronectin type-III 34. 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) CATCATTCTTCGGGGGTTTCC 0.458000 18 51 0 0 0.004990 0 0 CCDC141 285025 broad.mit.edu 37 2 179702064 179702064 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179702064G>A ENST00000420890.2 - 23 3999 c.3882C>T c.(3880-3882)ttC>ttT p.F1294F CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Silent_p.F719F NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 719 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) GCTCAGCTTTGAACTGGAGGT 0.473000 17 56 0 0 0.004990 0 0 XAGE5 170627 broad.mit.edu 37 X 52842166 52842166 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:52842166G>A ENST00000375503.3 + 2 438 c.75G>A c.(73-75)gaG>gaA p.E25E XAGE5_ENST00000425386.1_Silent_p.E25E|XAGE5_ENST00000351072.1_Silent_p.E25E|XAGE5_ENST00000375501.1_Silent_p.E25E Q8WWM1 GAGD5_HUMAN X antigen family, member 5 25 endometrium(1)|large_intestine(1)|lung(5)|ovary(1) 8 TGTCCCAGGAGCCCAGTGTGC 0.448000 18 3 0 0 0.006122 0 0 MUC17 140453 broad.mit.edu 37 7 100686979 100686979 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:100686979C>T ENST00000306151.4 + 3 12346 c.12282C>T c.(12280-12282)acC>acT p.T4094T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4094 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) CCATGACCACCAGGACAAAAC 0.562000 19 37 0 0 0.012319 0 0 TGFBI 7045 broad.mit.edu 37 5 135392410 135392410 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:135392410G>A ENST00000442011.2 + 12 1765 c.1604G>A c.(1603-1605)gGa>gAa p.G535E TGFBI_ENST00000305126.8_Missense_Mutation_p.G535E NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 535 FAS1 4. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AACCGGGAAGGAGTCTACACA 0.507000 11 25 0 0 0.010729 0 0 PCDHB14 56122 broad.mit.edu 37 5 140605446 140605446 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140605446G>A ENST00000239449.4 + 1 2369 c.2369G>A c.(2368-2370)cGa>cAa p.R790Q PCDHB14_ENST00000515856.2_Missense_Mutation_p.R637Q NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 790 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGAACTTTCGAAATAGCTTT 0.348000 7 19 0 0 0.003080 0 0 PSD2 84249 broad.mit.edu 37 5 139221957 139221957 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:139221957G>A ENST00000274710.3 + 15 2419 c.2214G>A c.(2212-2214)ggG>ggA p.G738G NM_032289.2 NP_115665.1 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 738 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTGGAAGGGGATGACCCTT 0.547000 12 25 0 0 0.010729 0 0 CDSN 1041 broad.mit.edu 37 6 31084274 31084274 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:31084274C>T ENST00000376288.2 - 2 1144 c.1118G>A c.(1117-1119)gGg>gAg p.G373E PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR NM_001264.4 NP_001255.3 Q15517 CDSN_HUMAN corneodesmosin 373 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 CCCACCAGTCCCCACTGGCTG 0.632000 5 11 0 0 0.000602 0 0 OR5I1 10798 broad.mit.edu 37 11 55703403 55703403 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:55703403G>A ENST00000301532.3 - 1 473 c.474C>T c.(472-474)tcC>tcT p.S158S NM_006637.1 NP_006628.1 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, member 1 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TGTGAACCAGGGAACTCATGT 0.413000 7 51 0 0 0.003080 0 0 REPS2 9185 broad.mit.edu 37 X 17153397 17153397 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:17153397C>T ENST00000357277.3 + 16 1847 c.1676C>T c.(1675-1677)tCt>tTt p.S559F REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000303843.7_Missense_Mutation_p.S558F|REPS2_ENST00000380064.4_Missense_Mutation_p.S358F NM_001080975.1|NM_004726.2 NP_001074444.1|NP_004717.2 Q8NFH8 REPS2_HUMAN RALBP1 associated Eps domain containing 2 559 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) GTACTGTATTCTCAGCCACCA 0.423000 28 55 0 0 0.008361 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18809748 18809748 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:18809748G>A ENST00000400664.1 + 1 2325 c.2273G>A c.(2272-2274)gGc>gAc p.G758D NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 758 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GCCCCGCAGGGCACCCTCCTG 0.642000 25 61 0 0 0.005443 0 0 SEC22B 9554 broad.mit.edu 37 1 145103977 145103977 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:145103977C>T ENST00000453618.1 + 0 472 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding TGAACAGTCCCCTACCAGATG 0.393000 6 29 0 0 0.001984 0 0 SYT3 84258 broad.mit.edu 37 19 51133146 51133146 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:51133146C>T ENST00000338916.4 - 3 1590 c.957G>A c.(955-957)agG>agA p.R319R SYT3_ENST00000593901.1_Silent_p.R319R|SYT3_ENST00000600079.1_Silent_p.R319R|SYT3_ENST00000544769.1_Silent_p.R319R NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III 319 C2 1. cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) CCTGCAGGATCCTCACCACCA 0.622000 22 127 0 0 0.002780 0 0 OR2G3 81469 broad.mit.edu 37 1 247769241 247769241 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:247769241G>A ENST00000320002.2 + 1 386 c.354G>A c.(352-354)atG>atA p.M118I RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TGGCTGACATGGCCTTGGATC 0.507000 27 169 0 0 0.005443 0 0 CYP2C19 1557 broad.mit.edu 37 10 96522549 96522549 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:96522549C>T ENST00000371321.3 + 1 169 c.87C>T c.(85-87)ctC>ctT p.L29L CYP2C19_ENST00000464755.1_Intron NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 29 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) GAGGAAAACTCCCTCCTGGCC 0.453000 18 51 0 0 0.004990 0 0 ITIH5 80760 broad.mit.edu 37 10 7679298 7679298 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:7679298G>A ENST00000256861.6 - 5 623 c.545C>T c.(544-546)tCc>tTc p.S182F ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.S182F|ITIH5_ENST00000397145.2_Missense_Mutation_p.S182F|ITIH5_ENST00000434980.1_5'UTR NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 182 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 CAGCCTCCCGGACAGCTGCTG 0.632000 9 31 0 0 0.006214 0 0 SYNPO 11346 broad.mit.edu 37 5 150028986 150028986 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:150028986C>T ENST00000394243.1 + 3 2255 c.1881C>T c.(1879-1881)ttC>ttT p.F627F SYNPO_ENST00000307662.4_Silent_p.F383F|SYNPO_ENST00000522122.1_Silent_p.F627F|SYNPO_ENST00000519664.1_Silent_p.F383F NM_001166208.1 NP_001159680.1 Q8N3V7 SYNPO_HUMAN synaptopodin 627 positive regulation of actin filament bundle assembly|regulation of stress fiber assembly actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction actin binding|protein binding NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2) 18 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGTTTACTTTCGTGGAGAAGC 0.612000 12 31 0 0 0.003163 0 0 RAB27A 5873 broad.mit.edu 37 15 55497756 55497756 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:55497756G>A ENST00000396307.2 - 6 866 c.615C>T c.(613-615)gcC>gcT p.A205A RAB27A_ENST00000336787.1_Silent_p.A205A|RAB27A_ENST00000564609.1_Silent_p.A205A|RAB27A_ENST00000569493.1_Silent_p.A205A NM_004580.4 NP_004571.2 P51159 RB27A_HUMAN RAB27A, member RAS oncogene family 205 small GTPase mediated signal transduction dendrite|exocytic vesicle|late endosome|lysosome|melanosome GTP binding|GTPase activity endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1) 9 all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993) GATCCGTAGAGGCATGACCAT 0.483000 23 86 0 0 0.004656 0 0 RGL3 57139 broad.mit.edu 37 19 11508178 11508178 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:11508178G>A ENST00000380456.3 - 17 1905 c.1842C>T c.(1840-1842)gcC>gcT p.A614A RGL3_ENST00000393423.3_Silent_p.A620A|RGL3_ENST00000568628.1_5'UTR NM_001035223.2|NM_001161616.1 NP_001030300.2|NP_001155088.1 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation stimulator-like 3 614 Interaction with HRAS, MRAS and RIT1 (By similarity).|Ras-associating. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1) 18 GGATGACACGGGCCTCCGAGC 0.682000 11 23 0 0 0.010729 0 0 HYDIN 54768 broad.mit.edu 37 16 70843784 70843784 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:70843784C>T ENST00000393567.2 - 85 14935 c.14785G>A c.(14785-14787)Gaa>Aaa p.E4929K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4929 p.E4880K(1)|p.E4928K(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ACAGGCTTTTCCGGAAGTGCT 0.478000 115 219 0 0 0.014410 0 0 GOLGA1 2800 broad.mit.edu 37 9 127651553 127651553 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:127651553G>A ENST00000373555.4 - 18 1963 c.1630C>T c.(1630-1632)Cag>Tag p.Q544* NM_002077.3 NP_002068.1 Q92805 GOGA1_HUMAN golgin A1 544 Gln-rich. Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 GCCTGCAGCTGGTGTATCTGC 0.667000 8 24 0 0 0.006214 0 0 OSTN 344901 broad.mit.edu 37 3 190967849 190967849 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:190967849G>A ENST00000339051.1 + 3 341 c.341G>A c.(340-342)aGg>aAg p.R114K OSTN_ENST00000445281.1_Intron NM_198184.1 NP_937827.1 P61366 OSTN_HUMAN osteocrin 114 cell differentiation|multicellular organismal development|ossification hormone activity kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2) 13 all_cancers(143;6.79e-09)|Ovarian(172;0.103) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000254) CATCCAAAAAGGCGATTTGGT 0.343000 16 60 0 0 0.004990 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 43 0 0 0.000602 0 0 INADL 10207 broad.mit.edu 37 1 62237153 62237153 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:62237153C>T ENST00000371158.2 + 6 689 c.575C>T c.(574-576)cCa>cTa p.P192L INADL_ENST00000316485.6_Missense_Mutation_p.P192L NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 192 PDZ 1. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 AATCACACGCCATTGGATCAG 0.353000 11 38 0 0 0.010729 0 0 MXRA5 25878 broad.mit.edu 37 X 3235908 3235908 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:3235908C>T ENST00000217939.6 - 6 5968 c.5814G>A c.(5812-5814)agG>agA p.R1938R NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1938 Ig-like C2-type 3. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) AGACCACCATCCTGTCCAGGC 0.532000 38 13 0 0 0.009718 0 0 SEMA3A 10371 broad.mit.edu 37 7 83590814 83590814 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:83590814C>T ENST00000265362.3 - 17 2503 c.2189G>A c.(2188-2190)cGa>cAa p.R730Q SEMA3A_ENST00000436949.1_Missense_Mutation_p.R730Q NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 730 Arg/Lys-rich (basic). axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 ACGTTGTTTTCGGTCCCTTTT 0.468000 19 50 0 0 0.006122 0 0 CR2 1380 broad.mit.edu 37 1 207647209 207647209 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:207647209T>C ENST00000367057.3 + 12 2408 c.2219T>C c.(2218-2220)gTt>gCt p.V740A CR2_ENST00000458541.2_Missense_Mutation_p.V654A|CR2_ENST00000367059.3_Missense_Mutation_p.V681A|CR2_ENST00000367058.3_Missense_Mutation_p.V681A NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 812 Sushi 12. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 GTGGAGCTAGTTAATACGTCC 0.423000 34 63 0 0 0.005524 0 0 FAT3 120114 broad.mit.edu 37 11 92534656 92534656 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:92534656G>A ENST00000298047.6 + 9 8494 c.8477G>A c.(8476-8478)gGg>gAg p.G2826E FAT3_ENST00000409404.2_Missense_Mutation_p.G2826E|FAT3_ENST00000525166.1_Missense_Mutation_p.G2676E Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2826 Cadherin 26. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATAATGGAAGGGATGCCTGTT 0.448000 TCGA Ovarian(4;0.039) 75 264 0 0 0.014410 0 0 AMY2A 279 broad.mit.edu 37 1 104160673 104160673 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:104160673G>A ENST00000414303.2 + 2 330 c.266G>A c.(265-267)gGa>gAa p.G89E NM_000699.2 NP_000690.1 P04746 AMYP_HUMAN amylase, alpha 2A (pancreatic) 89 carbohydrate catabolic process|polysaccharide digestion extracellular space alpha-amylase activity|calcium ion binding|chloride ion binding endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085) ACAAGATCTGGAAATGAAGAT 0.353000 48 104 0 0 0.014410 0 0 USH2A 7399 broad.mit.edu 37 1 216051165 216051165 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:216051165A>T ENST00000366943.2 - 43 9002 c.8616T>A c.(8614-8616)gaT>gaA p.D2872E USH2A_ENST00000307340.3_Missense_Mutation_p.D2872E O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2872 Fibronectin type-III 15. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACCGATTTAAATCTTCTGGGG 0.393000 HNSCC(13;0.011) 44 96 0 0 0.010771 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907649 12907649 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:12907649C>T ENST00000317869.6 - 2 719 c.494G>A c.(493-495)gGa>gAa p.G165E NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 TCCCCGCTTTCCACTCTTAGA 0.493000 88 174 0 0 0.014410 0 0 LCN9 392399 broad.mit.edu 37 9 138555245 138555245 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:138555245G>A ENST00000277526.3 + 1 78 c.78G>A c.(76-78)agG>agA p.R26R LCN9_ENST00000430290.2_3'UTR NM_001001676.1 NP_001001676.1 Q8WX39 LCN9_HUMAN lipocalin 9 26 extracellular region pheromone binding|transporter activity kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1) 6 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05) TTATGCAGAGGAACTACAACG 0.632000 14 23 0 0 0.004990 0 0 PLCE1 51196 broad.mit.edu 37 10 95791266 95791266 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:95791266G>A ENST00000260766.3 + 2 1097 c.463G>A c.(463-465)Gaa>Aaa p.E155K PLCE1_ENST00000371380.2_Missense_Mutation_p.E155K NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 155 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) AATTCAACTGGAACTAGACAG 0.433000 21 42 0 0 0.012319 0 0 CLEC1A 51267 broad.mit.edu 37 12 10251418 10251418 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:10251418G>A ENST00000315330.4 - 1 166 c.104C>T c.(103-105)cCc>cTc p.P35L CLEC1A_ENST00000457018.2_Missense_Mutation_p.P35L|CLEC1A_ENST00000420265.2_Missense_Mutation_p.P35L NM_016511.2 NP_057595.2 Q8NC01 CLC1A_HUMAN C-type lectin domain family 1, member A 35 cell surface receptor linked signaling pathway|defense response integral to plasma membrane|intracellular sugar binding|transmembrane receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 23 TGTGCGCCGGGGCTCTGGATG 0.532000 8 8 0 0 0.003080 0 0 MUC6 4588 broad.mit.edu 37 11 1016871 1016871 + Missense_Mutation SNP G G A rs71472140 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:1016871G>A ENST00000421673.2 - 31 5980 c.5930C>T c.(5929-5931)cCc>cTc p.P1977L NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1977 Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGAAGAGAAGGGACTGCTCCC 0.587000 65 1324 0 0 0.007835 0 0 GRIK2 2898 broad.mit.edu 37 6 102250215 102250215 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:102250215G>A ENST00000369138.1 + 8 1595 c.1105G>A c.(1105-1107)Gaa>Aaa p.E369K GRIK2_ENST00000421544.1_Missense_Mutation_p.E369K|GRIK2_ENST00000413795.1_Missense_Mutation_p.E369K|GRIK2_ENST00000318991.6_Missense_Mutation_p.E369K|GRIK2_ENST00000369134.4_Missense_Mutation_p.E320K|GRIK2_ENST00000369137.3_Missense_Mutation_p.E369K NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 369 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) GGCACATTGGGAAGGCCTCAC 0.338000 12 25 0 0 0.013537 0 0 OR5B2 390190 broad.mit.edu 37 11 58190555 58190555 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:58190555G>A ENST00000302581.2 - 1 231 c.180C>T c.(178-180)ttC>ttT p.F60F NM_001005566.2 NP_001005566.1 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, member 2 60 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) GGTTACTGAGGAAAAAGTACA 0.502000 22 36 0 0 0.014323 0 0 DSG3 1830 broad.mit.edu 37 18 29054237 29054237 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:29054237C>T ENST00000257189.4 + 15 2338 c.2255C>T c.(2254-2256)gCc>gTc p.A752V NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 752 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TTCGGAGCAGCCACTGGAGTT 0.537000 12 13 0 0 0.010729 0 0 OR5H6 79295 broad.mit.edu 37 3 97983425 97983425 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:97983425C>T ENST00000383696.2 + 1 338 c.297C>T c.(295-297)atC>atT p.I99I RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 AGATGCTGATCAACTTCTTAG 0.408000 28 62 0 0 0.010818 0 0 TMEM39A 55254 broad.mit.edu 37 3 119165876 119165876 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:119165876G>A ENST00000319172.5 - 5 984 c.564C>T c.(562-564)ttC>ttT p.F188F TMEM39A_ENST00000486159.1_Intron NM_018266.1 NP_060736.1 Q9NV64 TM39A_HUMAN transmembrane protein 39A 188 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 13 GBM - Glioblastoma multiforme(114;0.244) GGTAGCCAAGGAAAAGGAGAT 0.393000 4 17 0 0 0.009096 0 0 SEZ6L 23544 broad.mit.edu 37 22 26688857 26688857 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:26688857C>T ENST00000529632.2 + 2 776 c.580C>T c.(580-582)Cct>Tct p.P194S SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P194S|SEZ6L_ENST00000343706.4_Missense_Mutation_p.P194S|SEZ6L_ENST00000248933.6_Missense_Mutation_p.P194S|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P194S 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 194 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 GAGTGCGGTCCCTACAACACC 0.667000 19 70 0 0 0.007413 0 0 CTD-2090I13.1 0 broad.mit.edu 37 1 227618340 227618340 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:227618340G>A ENST00000445817.1 + 0 1575 GCTGTGGGTCGAAGATATGCT 0.502000 4 23 0 0 0.000602 0 0 OR10T2 128360 broad.mit.edu 37 1 158368604 158368604 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:158368604G>A ENST00000334438.1 - 1 652 c.653C>T c.(652-654)tCc>tTc p.S218F NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) GAAGCCATAGGATATGAGAAT 0.463000 6 48 0 0 0.001168 0 0 PHACTR3 116154 broad.mit.edu 37 20 58342337 58342337 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:58342337C>T ENST00000371015.1 + 5 1105 c.638C>T c.(637-639)tCc>tTc p.S213F PHACTR3_ENST00000395636.2_Missense_Mutation_p.S172F|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000541461.1_Missense_Mutation_p.S172F|PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000359926.3_Missense_Mutation_p.S210F|PHACTR3_ENST00000355648.4_Missense_Mutation_p.S172F NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 213 nuclear matrix actin binding|protein phosphatase inhibitor activity p.S213F(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) GGGGCTGACTCCCTGGACAGT 0.632000 11 25 0 0 0.008291 0 0 TPTE 7179 broad.mit.edu 37 21 10916373 10916373 + Missense_Mutation SNP G G A rs138794341 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr21:10916373G>A ENST00000298232.7 - 19 1586 c.1219C>T c.(1219-1221)Cct>Tct p.P407S TPTE_ENST00000415664.2_Intron|TPTE_ENST00000361285.4_Missense_Mutation_p.P425S|TPTE_ENST00000342420.5_Missense_Mutation_p.P387S NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 425 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CACTTACGAGGAATCGAATAA 0.388000 13 51 0 0 0.013537 0 0 DOK2 9046 broad.mit.edu 37 8 21766993 21766993 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:21766993G>A ENST00000276420.4 - 5 1326 c.1068C>T c.(1066-1068)ctC>ctT p.L356L DOK2_ENST00000544659.1_Silent_p.L202L NM_003974.2 NP_003965.2 O60496 DOK2_HUMAN docking protein 2, 56kDa 356 Pro-rich. blood coagulation|leukocyte migration cytosol identical protein binding|insulin receptor binding NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1) 26 Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) GGCTGTCATAGAGGGACAGGG 0.667000 8 37 0 0 0.003080 0 0 INSRR 3645 broad.mit.edu 37 1 156811534 156811534 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:156811534C>T ENST00000368195.3 - 20 3846 c.3450G>A c.(3448-3450)ggG>ggA p.G1150G NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 1150 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) GCAGCCCCTTCCCACCCTTGC 0.617000 35 64 0 0 0.003755 0 0 CERS3 204219 broad.mit.edu 37 15 101031137 101031137 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:101031137C>T ENST00000284382.4 - 5 597 c.e5-1 CERS3_ENST00000394113.1_Splice_Site|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000538112.2_Splice_Site NM_178842.3 NP_849164.2 Q8IU89 CERS3_HUMAN ceramide synthase 3 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity AGCAACAAATCTACAAAAATA 0.308000 10 22 0 0 0.006214 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146997283 146997283 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:146997283G>A ENST00000361727.3 + 9 1915 c.1399G>A c.(1399-1401)Gaa>Aaa p.E467K NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 467 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CCTAGCCAAGGAAAATTTTGC 0.413000 HNSCC(39;0.1) 15 46 0 0 0.004007 0 0 LCK 3932 broad.mit.edu 37 1 32739964 32739964 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:32739964G>A ENST00000333070.4 + 2 134 c.34G>A c.(34-36)Gac>Aac p.D12N LCK_ENST00000336890.5_Missense_Mutation_p.D12N|LCK_ENST00000373564.3_Missense_Mutation_p.D12N NM_001042771.1 NP_001036236.1 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 12 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) CCCGGAAGATGACTGGATGGA 0.577000 T TRB@ T-ALL 34 54 0 0 0.004878 0 0 CCDC74B 91409 broad.mit.edu 37 2 130899763 130899763 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:130899763G>A ENST00000392984.3 - 2 1536 c.793C>T c.(793-795)Cct>Tct p.P265S CCDC74B_ENST00000409943.3_Intron|CCDC74B_ENST00000409128.1_Intron|CCDC74B_ENST00000310463.6_Missense_Mutation_p.P163S Q96LY2 CC74B_HUMAN coiled-coil domain containing 74B 163 endometrium(2)|large_intestine(1)|lung(3) 6 Colorectal(110;0.1) CTGTCTGCAGGAGAGCGCACA 0.632000 6 22 0 0 0.006214 0 0 PWWP2B 170394 broad.mit.edu 37 10 134219344 134219344 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:134219344C>T ENST00000305233.5 + 2 1399 c.1340C>T c.(1339-1341)tCg>tTg p.S447L PWWP2B_ENST00000368609.4_Missense_Mutation_p.S447L NM_138499.3 NP_612508.3 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2B 447 central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) GGTGACCTCTCGCCTGGCCAC 0.697000 6 10 0 0 0.001168 0 0 BEND3 57673 broad.mit.edu 37 6 107390735 107390735 + Silent SNP G G A rs146650207 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:107390735G>A ENST00000429433.2 - 5 2309 c.1660C>T c.(1660-1662)Ctg>Ttg p.L554L BEND3_ENST00000369042.1_Silent_p.L554L NM_001080450.2 NP_001073919.1 Q5T5X7 BEND3_HUMAN BEN domain containing 3 554 BEN 3. central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3) 30 TTGCTGAGCAGGCAGTCGGCA 0.637000 18 32 0 0 0.006122 0 0 EYA4 2070 broad.mit.edu 37 6 133789771 133789771 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:133789771G>A ENST00000367895.5 + 11 1336 c.872G>A c.(871-873)gGa>gAa p.G291E EYA4_ENST00000355286.6_Missense_Mutation_p.G268E|EYA4_ENST00000531901.1_Missense_Mutation_p.G291E|EYA4_ENST00000430974.2_Missense_Mutation_p.G237E|EYA4_ENST00000431403.2_Missense_Mutation_p.G291E|EYA4_ENST00000452339.2_Missense_Mutation_p.G237E|EYA4_ENST00000355167.3_Missense_Mutation_p.G291E|EYA4_ENST00000525849.1_Missense_Mutation_p.G268E NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 291 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) TCAACGTATGGAGCGTATATG 0.428000 20 73 0 0 0.008871 0 0 CELA1 1990 broad.mit.edu 37 12 51733658 51733658 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:51733658G>A ENST00000293636.1 - 6 635 c.595C>T c.(595-597)Cgc>Tgc p.R199C NM_001971.5 NP_001962.3 Q9UNI1 CELA1_HUMAN chymotrypsin-like elastase family, member 1 199 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 15 CATCCAGAGCGAACTCCATCT 0.602000 25 13 0 0 0.004656 0 0 KHDRBS3 10656 broad.mit.edu 37 8 136533592 136533592 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:136533592C>T ENST00000355849.5 + 2 611 c.201C>T c.(199-201)ttC>ttT p.F67F KHDRBS3_ENST00000520981.1_Silent_p.F40F NM_006558.1 NP_006549.1 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal transduction associated 3 67 KH. regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 26 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) TAAAACAGTTCCCTAAGGTAA 0.373000 9 18 0 0 0.006214 0 0 EDNRA 1909 broad.mit.edu 37 4 148463676 148463676 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:148463676C>T ENST00000324300.5 + 8 1705 c.1190C>T c.(1189-1191)tCg>tTg p.S397L EDNRA_ENST00000511804.1_Missense_Mutation_p.S172L|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000358556.4_Missense_Mutation_p.S288L|EDNRA_ENST00000506066.1_Missense_Mutation_p.S288L NM_001957.3 NP_001948.1 P25101 EDNRA_HUMAN endothelin receptor type A 397 activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1) 17 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) CTGATGACCTCGGTCCCCATG 0.552000 18 23 0 0 0.008871 0 0 GRIA1 2890 broad.mit.edu 37 5 153149834 153149834 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:153149834C>T ENST00000285900.5 + 13 2472 c.2129C>T c.(2128-2130)tCc>tTc p.S710F GRIA1_ENST00000521843.2_Missense_Mutation_p.S641F|GRIA1_ENST00000518142.1_Missense_Mutation_p.S630F|GRIA1_ENST00000340592.5_Missense_Mutation_p.S710F|GRIA1_ENST00000518783.1_Missense_Mutation_p.S720F|GRIA1_ENST00000448073.4_Missense_Mutation_p.S720F NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 710 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GTGAGGAAATCCAAAGGCAAA 0.478000 4 24 0 0 0.009096 0 0 ZNF804B 219578 broad.mit.edu 37 7 88964781 88964781 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:88964781G>A ENST00000333190.4 + 4 3094 c.2485G>A c.(2485-2487)Gat>Aat p.D829N NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 829 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CATCTATTGTGATTCTAACTC 0.373000 HNSCC(36;0.09) 11 30 0 0 0.010729 0 0 ZNF679 168417 broad.mit.edu 37 7 63726795 63726795 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:63726795C>T ENST00000421025.1 + 5 1053 c.784C>T c.(784-786)Cat>Tat p.H262Y ZNF679_ENST00000255746.4_Missense_Mutation_p.H262Y NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 262 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 TAGGAGAATTCATACTGGAGA 0.418000 3 6 0 0 0.009096 0 0 SMOX 54498 broad.mit.edu 37 20 4162483 4162483 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:4162483G>A ENST00000305958.4 + 4 694 c.469G>A c.(469-471)Gat>Aat p.D157N SMOX_ENST00000339123.6_Missense_Mutation_p.D157N|SMOX_ENST00000484515.1_3'UTR|SMOX_ENST00000379460.2_Missense_Mutation_p.D157N|SMOX_ENST00000278795.3_Missense_Mutation_p.D157N|SMOX_ENST00000346595.2_Intron NM_175839.1 NP_787033.1 Q9NWM0 SMOX_HUMAN spermine oxidase 157 polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity p.D157N(2) breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1) 26 Spermine(DB00127) CTTCCGGCACGATAAACCAGT 0.532000 6 59 0 0 0.001984 0 0 TNRC18 84629 broad.mit.edu 37 7 5410863 5410863 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:5410863G>A ENST00000399537.4 - 11 3710 c.3362C>T c.(3361-3363)cCc>cTc p.P1121L TNRC18_ENST00000430969.1_Missense_Mutation_p.P1121L O15417 TNC18_HUMAN trinucleotide repeat containing 18 1121 Pro-rich. DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CAGGCGCTCGGGCCCATCAGC 0.706000 9 28 0 0 0.006214 0 0 CYP4F3 4051 broad.mit.edu 37 19 15760877 15760877 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:15760877G>A ENST00000221307.7 + 7 850 c.802G>A c.(802-804)Gat>Aat p.D268N CYP4F3_ENST00000591058.1_Missense_Mutation_p.D268N|CYP4F3_ENST00000585846.1_Missense_Mutation_p.D268N|CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000586182.1_Missense_Mutation_p.D268N NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 268 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 CGACTTCACAGATGCCGTCAT 0.562000 28 82 0 0 0.003271 0 0 CACNA1E 777 broad.mit.edu 37 1 181754494 181754494 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:181754494G>A ENST00000526775.1 + 41 5727 c.5562G>A c.(5560-5562)atG>atA p.M1854I CACNA1E_ENST00000367567.4_Missense_Mutation_p.M1480I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.M1873I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.M1805I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.M1854I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.M1824I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.M1873I NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1873 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CAGCAATGATGATCATGGACT 0.483000 5 20 0 0 0.001168 0 0 MADD 8567 broad.mit.edu 37 11 47330565 47330565 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:47330565G>A ENST00000311027.5 + 26 4068 c.3903G>A c.(3901-3903)gaG>gaA p.E1301E MADD_ENST00000402799.1_Intron|MADD_ENST00000405573.2_Silent_p.E111E|MADD_ENST00000395344.3_Intron|MADD_ENST00000407859.3_Intron|MADD_ENST00000406482.1_Intron|MADD_ENST00000342922.4_Intron|MADD_ENST00000402192.2_Intron|MADD_ENST00000349238.3_Intron|MADD_ENST00000395336.3_Silent_p.E1301E NM_003682.3 NP_003673.3 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 1301 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) ACCAGTTAGAGGATGCAGCTA 0.478000 30 78 0 0 0.004289 0 0 PPIAL4G 644591 broad.mit.edu 37 1 143767510 143767510 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:143767510G>A ENST00000419275.1 - 1 371 c.339C>T c.(337-339)ttC>ttT p.F113F NM_001123068.1 NP_001116540.1 A2BFH1 PAL4G_HUMAN peptidylprolyl isomerase A (cyclophilin A)-like 4G 113 PPIase cyclophilin-type. protein folding cytoplasm peptidyl-prolyl cis-trans isomerase activity breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1) 14 CAGTGCAGATGAAAAACTGGG 0.478000 19 282 0 0 0.008361 0 0 UGT1A5 54579 broad.mit.edu 37 2 234622403 234622403 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:234622403C>T ENST00000373414.3 + 1 766 c.766C>T c.(766-768)Ctg>Ttg p.L256L UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron NM_019078.1 NP_061951.1 cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) ATCTGTGTGGCTGTTCCGAGG 0.527000 42 74 0 0 0.010771 0 0 EIF3F 8665 broad.mit.edu 37 11 8016539 8016539 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:8016539C>T ENST00000533626.1 + 8 1382 c.756C>T c.(754-756)atC>atT p.I252I EIF3F_ENST00000309828.4_Silent_p.I252I|EIF3F_ENST00000449102.2_Silent_p.I103I|EIF3F_ENST00000537635.1_Silent_p.I267I O00303 EIF3F_HUMAN eukaryotic translation initiation factor 3, subunit F 252 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1) 13 Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TTGACCTGATCATGAAGACCT 0.522000 19 40 0 0 0.003330 0 0 BRINP3 339479 broad.mit.edu 37 1 190067341 190067341 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:190067341A>T ENST00000367462.3 - 8 2339 c.2108T>A c.(2107-2109)cTa>cAa p.L703Q FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.L601Q NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 703 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) GATCTCTAGTAGTTGCAAAAG 0.483000 23 50 0 0 0.012319 0 0 VCPIP1 80124 broad.mit.edu 37 8 67547298 67547298 + Missense_Mutation SNP G G A rs142699780 by1000genomes TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:67547298G>A ENST00000310421.4 - 3 3365 c.3107C>T c.(3106-3108)tCt>tTt p.S1036F NM_025054.4 NP_079330.2 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex interacting protein 1 1036 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) TGGGTTACCAGATGCAGTTCC 0.403000 39 50 0 0 0.004878 0 0 RP1L1 94137 broad.mit.edu 37 8 10473967 10473967 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:10473967C>T ENST00000382483.3 - 3 963 c.740G>A c.(739-741)aGa>aAa p.R247K NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 247 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GTTTTTGTTTCTTGAAGTCAG 0.512000 21 38 0 0 0.014323 0 0 IGSF10 285313 broad.mit.edu 37 3 151166168 151166168 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:151166168C>T ENST00000282466.3 - 4 1600 c.1601G>A c.(1600-1602)gGa>gAa p.G534E NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 534 Ig-like C2-type 1. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTCCAATTTTCCACTTTTGTC 0.443000 26 128 0 0 0.010818 0 0 ACADS 35 broad.mit.edu 37 12 121174915 121174915 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:121174915G>A ENST00000242592.4 + 3 488 c.337G>A c.(337-339)Gga>Aga p.G113R ACADS_ENST00000411593.2_Missense_Mutation_p.G113R NM_000017.2 NP_000008.1 P16219 ACADS_HUMAN acyl-CoA dehydrogenase, C-2 to C-3 short chain 113 mitochondrial matrix butyryl-CoA dehydrogenase activity central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) Lung NSC(355;0.163) NADH(DB00157) CGCCTCCACCGGAGTCATCAT 0.677000 105 68 0 0 0.014410 0 0 OR6K3 391114 broad.mit.edu 37 1 158687109 158687109 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:158687109G>A ENST00000368146.1 - 1 844 c.845C>T c.(844-846)cCa>cTa p.P282L OR6K3_ENST00000368145.1_Missense_Mutation_p.P266L Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) CAAAACTGGTGGATAAGTGTC 0.448000 23 49 0 0 0.014323 0 0 GCSAM 257144 broad.mit.edu 37 3 111844080 111844080 + Missense_Mutation SNP G G C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:111844080G>C ENST00000308910.4 - 5 396 c.212C>G c.(211-213)cCc>cGc p.P71R C3orf52_ENST00000467942.2_Intron|GCSAM_ENST00000484193.1_Missense_Mutation_p.P73R NM_001190259.1|NM_001190260.1|NM_152785.4 NP_001177188.1|NP_001177189.1|NP_689998.1 germinal center-associated, signaling and motility TACCTGGATGGGAGTAGATGA 0.403000 7 51 0 0 0.006214 0 0 TGM3 7053 broad.mit.edu 37 20 2312850 2312850 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:2312850G>A ENST00000381458.5 + 10 1599 c.1536G>A c.(1534-1536)acG>acA p.T512T NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 512 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) GCAGGGATACGAAGACAGTGA 0.537000 9 12 0 0 0.006214 0 0 OR51B5 282763 broad.mit.edu 37 11 5364400 5364400 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:5364400C>T ENST00000300773.2 - 1 409 c.355G>A c.(355-357)Gac>Aac p.D119N HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_001005567.2 NP_001005567.2 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, member 5 119 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATAAAACGGTCATAGGCCATG 0.473000 17 43 0 0 0.004007 0 0 KIAA0556 23247 broad.mit.edu 37 16 27733009 27733009 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:27733009C>T ENST00000261588.4 + 14 1755 c.1736C>T c.(1735-1737)gCt>gTt p.A579V KIAA0556_ENST00000567894.1_3'UTR NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 579 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 TACTGGACAGCTGATGGCGTA 0.502000 6 22 0 0 0.001984 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060370 35060370 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:35060370G>A ENST00000373913.3 + 3 730 c.250G>A c.(250-252)Gag>Aag p.E84K DLGAP4_ENST00000339266.5_Missense_Mutation_p.E84K|DLGAP4_ENST00000401952.2_Missense_Mutation_p.E84K|DLGAP4_ENST00000373907.2_Missense_Mutation_p.E84K Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 84 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CGAGGTGCCAGAGGAGAGCCC 0.632000 9 38 0 0 0.010729 0 0 F2R 2149 broad.mit.edu 37 5 76028198 76028198 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:76028198G>A ENST00000319211.4 + 2 413 c.148G>A c.(148-150)Gat>Aat p.D50N NM_001992.3 NP_001983.2 P25116 PAR1_HUMAN coagulation factor II (thrombin) receptor 50 activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) GAACCCCAATGATAAATATGA 0.328000 6 43 0 0 0.001984 0 0 ZNF484 83744 broad.mit.edu 37 9 95609097 95609097 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:95609097G>A ENST00000395505.2 - 3 1956 c.1864C>T c.(1864-1866)Cac>Tac p.H622Y ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Missense_Mutation_p.H658Y|ZNF484_ENST00000332591.6_Missense_Mutation_p.H622Y|ZNF484_ENST00000395506.3_Missense_Mutation_p.H660Y NM_001261459.1|NM_001261460.1 NP_001248388.1|NP_001248389.1 Q5JVG2 ZN484_HUMAN zinc finger protein 484 658 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 TCTCCAGTGTGAATTTTCTGG 0.428000 13 52 0 0 0.001855 0 0 OR5T1 390155 broad.mit.edu 37 11 56043514 56043514 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:56043514C>T ENST00000313033.2 + 1 486 c.400C>T c.(400-402)Cgc>Tgc p.R134C NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R134S(1) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) GGCTTATGATCGCTATGTAGC 0.413000 40 113 0 0 0.010771 0 0 C5 727 broad.mit.edu 37 9 123768255 123768255 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:123768255C>T ENST00000223642.1 - 20 2533 c.2504G>A c.(2503-2505)cGa>cAa p.R835Q C5_ENST00000466280.1_5'UTR NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 835 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) CTGTTCTCCTCGTACAACAGA 0.388000 21 25 0 0 0.010504 0 0 ZNF768 79724 broad.mit.edu 37 16 30536387 30536387 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:30536387G>A ENST00000380412.5 - 2 1249 c.1074C>T c.(1072-1074)tcC>tcT p.S358S ZNF768_ENST00000562803.1_Silent_p.S327S NM_024671.3 NP_078947.3 Q9H5H4 ZN768_HUMAN zinc finger protein 768 358 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 GCAGGAGGTAGGAGCTGTCGC 0.637000 8 17 0 0 0.008291 0 0 KLHL4 56062 broad.mit.edu 37 X 86887277 86887277 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:86887277C>T ENST00000373119.4 + 7 1537 c.1392C>T c.(1390-1392)ggC>ggT p.G464G KLHL4_ENST00000373114.4_Silent_p.G464G NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 464 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 CCATGAATGGCCGTAGGCTTC 0.388000 17 8 0 0 0.004007 0 0 GEN1 348654 broad.mit.edu 37 2 17950072 17950072 + Missense_Mutation SNP T T G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:17950072T>G ENST00000381254.2 + 6 918 c.704T>G c.(703-705)cTt>cGt p.L235R GEN1_ENST00000317402.7_Missense_Mutation_p.L235R|SMC6_ENST00000402989.1_Intron NM_001130009.1 NP_001123481.1 Q17RS7 GEN_HUMAN GEN1 Holliday junction 5' flap endonuclease 235 DNA repair nucleus DNA binding|endonuclease activity|metal ion binding breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CAAAGTTTACTTCAGAGGTAA 0.323000 Homologous recombination 11 17 0 0 0.010729 0 0 LIPE 3991 broad.mit.edu 37 19 42910379 42910379 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:42910379G>A ENST00000244289.4 - 7 2575 c.2299C>T c.(2299-2301)Ctg>Ttg p.L767L LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 767 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) AGGCTCAGCAGGCGGGAGGGA 0.657000 15 25 0 0 0.002450 0 0 SLC5A12 159963 broad.mit.edu 37 11 26743205 26743205 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:26743205G>A ENST00000396005.3 - 1 366 c.57C>T c.(55-57)ttC>ttT p.F19F SLC5A12_ENST00000280467.6_Silent_p.F19F NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 19 sodium ion transport apical plasma membrane|integral to membrane symporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 CAGAGGAAATGAAAAAGAGGG 0.448000 24 53 0 0 0.005443 0 0 HIVEP2 3097 broad.mit.edu 37 6 143074907 143074907 + Silent SNP G G A rs140448659 by1000genomes TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:143074907G>A ENST00000367603.2 - 10 7420 c.6678C>T c.(6676-6678)atC>atT p.I2226I HIVEP2_ENST00000367604.1_Silent_p.I2226I|HIVEP2_ENST00000012134.2_Silent_p.I2226I NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 2226 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) GCACCATGGGGATAGGGGCTC 0.547000 20 52 0 0 0.010504 0 0 CCDC144A 9720 broad.mit.edu 37 17 16593718 16593718 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:16593718G>A ENST00000443444.2 + 1 144 c.4G>A c.(4-6)Gcc>Acc p.A2T CCDC144A_ENST00000399273.1_Missense_Mutation_p.A2T|CCDC144A_ENST00000340621.5_Missense_Mutation_p.A2T|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000456009.1_Missense_Mutation_p.A2T|CCDC144A_ENST00000360524.8_Missense_Mutation_p.A2T|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.A2T A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 2 GCTACTGATGGCCTCCTGGGG 0.647000 4 3 0 0 0.009096 0 0 MUC17 140453 broad.mit.edu 37 7 100699524 100699524 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:100699524C>T ENST00000306151.4 + 12 13477 c.13413C>T c.(13411-13413)tcC>tcT p.S4471S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4471 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) TCCAGCCCTCCTTGAGACACA 0.493000 23 28 0 0 0.003330 0 0 SORCS1 114815 broad.mit.edu 37 10 108427498 108427498 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:108427498G>A ENST00000263054.6 - 17 2259 c.2252C>T c.(2251-2253)tCc>tTc p.S751F SORCS1_ENST00000344440.6_Missense_Mutation_p.S751F|SORCS1_ENST00000369698.1_Missense_Mutation_p.S286F NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 751 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TGACAGAGAGGATGGATTGAA 0.493000 6 16 0 0 0.001984 0 0 TMEM246 84302 broad.mit.edu 37 9 104238324 104238324 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:104238324G>A ENST00000374851.1 - 4 2198 c.1051C>T c.(1051-1053)Ctg>Ttg p.L351L TMEM246_ENST00000374848.3_Silent_p.L351L|TMEM246_ENST00000374847.1_Silent_p.L351L|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA Q9BRR3 CI125_HUMAN transmembrane protein 246 351 integral to membrane ACTTGGGACAGGTAGGTGAGG 0.617000 6 25 0 0 0.001168 0 0 HCK 3055 broad.mit.edu 37 20 30672286 30672286 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:30672286C>T ENST00000534862.1 + 9 1078 c.715C>T c.(715-717)Cgg>Tgg p.R239W HCK_ENST00000538448.1_Missense_Mutation_p.R238W|HCK_ENST00000375852.2_Missense_Mutation_p.R259W|HCK_ENST00000518730.1_Missense_Mutation_p.R237W|HCK_ENST00000375862.2_Missense_Mutation_p.R258W|HCK_ENST00000520553.1_Missense_Mutation_p.R238W NM_001172132.1 NP_001165603.1 P08631 HCK_HUMAN hemopoietic cell kinase 259 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) GGAGATCCCTCGGGAATCCCT 0.602000 5 37 0 0 0.001168 0 0 THSD7B 80731 broad.mit.edu 37 2 137988648 137988648 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:137988648C>T ENST00000409968.1 + 8 1936 c.1758C>T c.(1756-1758)ccC>ccT p.P586P THSD7B_ENST00000272643.3_Silent_p.P586P|THSD7B_ENST00000413152.2_Silent_p.P555P|THSD7B_ENST00000543459.1_Intron 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) GCCCAGTTCCCCCTCCTCCTG 0.473000 8 27 0 0 0.004482 0 0 OR2H2 7932 broad.mit.edu 37 6 29556431 29556431 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:29556431G>A ENST00000383640.2 + 1 749 c.710G>A c.(709-711)gGg>gAg p.G237E GABBR1_ENST00000355973.3_Intron NM_007160.3 NP_009091.3 O95918 OR2H2_HUMAN olfactory receptor, family 2, subfamily H, member 2 237 defense response|mating|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G237V(1) central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1) 14 AAAGCTTTTGGGACCTGCTCC 0.532000 13 56 0 0 0.002450 0 0 DLEC1 9940 broad.mit.edu 37 3 38134316 38134316 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:38134316G>A ENST00000308059.6 + 11 1722 c.1701G>A c.(1699-1701)gaG>gaA p.E567E DLEC1_ENST00000346219.3_Silent_p.E567E|DLEC1_ENST00000452631.2_Silent_p.E567E Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 567 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) GAAAGGCAGAGCAGACCTTCA 0.572000 28 66 0 0 0.008361 0 0 SLC22A10 387775 broad.mit.edu 37 11 63072291 63072291 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:63072291C>T ENST00000332793.6 + 9 1530 c.1528C>T c.(1528-1530)Ctt>Ttt p.L510F SLC22A10_ENST00000544661.1_3'UTR|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron NM_001039752.3 NP_001034841.3 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 510 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CATTGGTGGCCTTATTGTCTT 0.448000 27 55 0 0 0.006320 0 0 HMG20B 10362 broad.mit.edu 37 19 3574473 3574473 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:3574473C>T ENST00000333651.6 + 4 315 c.240C>T c.(238-240)ttC>ttT p.F80F NM_006339.2 NP_006330.2 Q9P0W2 HM20B_HUMAN high mobility group 20B 80 blood coagulation|cell cycle|chromatin modification chromosome|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity cervix(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) ACGTGCGCTTCCTGAACGAGC 0.642000 6 10 0 0 0.003080 0 0 ACMSD 130013 broad.mit.edu 37 2 135630121 135630121 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:135630121G>A ENST00000356140.5 + 8 895 c.759G>A c.(757-759)atG>atA p.M253I AC016725.4_ENST00000428857.1_RNA|AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000283054.4_Missense_Mutation_p.M195I|AC016725.4_ENST00000413962.1_RNA|ACMSD_ENST00000392928.1_Missense_Mutation_p.M195I|AC016725.4_ENST00000537615.1_RNA NM_138326.2 NP_612199.2 Q8TDX5 ACMSD_HUMAN aminocarboxymuconate semialdehyde decarboxylase 253 quinolinate metabolic process|tryptophan catabolic process cytosol aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding endometrium(3)|large_intestine(4)|lung(6)|skin(1) 14 BRCA - Breast invasive adenocarcinoma(221;0.115) ACAACCCCATGAACCCGAAGA 0.493000 14 30 0 0 0.003163 0 0 PCLO 27445 broad.mit.edu 37 7 82595680 82595680 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:82595680C>T ENST00000423517.2 - 4 3761 c.3424G>A c.(3424-3426)Gaa>Aaa p.E1142K PCLO_ENST00000333891.8_Missense_Mutation_p.E1142K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1081 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 GATGATGATTCTGTAGGAACA 0.433000 33 43 0 0 0.012213 0 0 AFF3 3899 broad.mit.edu 37 2 100167982 100167982 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:100167982G>A ENST00000317233.4 - 24 3870 c.3635C>T c.(3634-3636)tCc>tTc p.S1212F AFF3_ENST00000409236.1_Missense_Mutation_p.S1212F|AFF3_ENST00000356421.2_Missense_Mutation_p.S1237F|AFF3_ENST00000409579.1_Missense_Mutation_p.S1237F NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 1212 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 GCCCTGTTGGGAGTACTGGAC 0.592000 6 31 0 0 0.001168 0 0 CDK18 5129 broad.mit.edu 37 1 205494285 205494285 + Nonsense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:205494285A>T ENST00000360066.2 + 5 719 c.418A>T c.(418-420)Aaa>Taa p.K140* CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Nonsense_Mutation_p.K140*|CDK18_ENST00000506784.1_Nonsense_Mutation_p.K170* NM_002596.3|NM_212502.2|NM_212503.2 NP_002587.2|NP_997667.1|NP_997668.1 Q07002 CDK18_HUMAN cyclin-dependent kinase 18 138 ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 TGGCTTTGGGAAACTGGAAAC 0.542000 10 27 0 0 0.004007 0 0 LHCGR 3973 broad.mit.edu 37 2 48915774 48915774 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:48915774G>A ENST00000294954.7 - 11 1183 c.1162C>T c.(1162-1164)Cgt>Tgt p.R388C LHCGR_ENST00000344775.3_Missense_Mutation_p.R326C|LHCGR_ENST00000405626.1_Missense_Mutation_p.R361C|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_Intron|LHCGR_ENST00000401907.1_Intron NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 388 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) AGTTTGTAACGACTTGTCAGG 0.428000 21 35 0 0 0.010504 0 0 KCNU1 157855 broad.mit.edu 37 8 36663823 36663823 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:36663823G>A ENST00000399881.3 + 5 542 c.505G>A c.(505-507)Gag>Aag p.E169K NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 169 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) GTTCTGGCTGGAGATGAATTC 0.378000 6 9 0 0 0.001168 0 0 KEL 3792 broad.mit.edu 37 7 142650976 142650976 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:142650976G>A ENST00000355265.2 - 9 1466 c.992C>T c.(991-993)cCt>cTt p.P331L KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 331 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GGACTGAGAAGGGCTCAGGGA 0.537000 45 91 0 0 0.013114 0 0 CCDC135 84229 broad.mit.edu 37 16 57738868 57738868 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:57738868G>A ENST00000360716.3 + 7 1001 c.780G>A c.(778-780)caG>caA p.Q260Q CCDC135_ENST00000336825.8_Silent_p.Q195Q|CCDC135_ENST00000394337.4_Silent_p.Q260Q Q8IY82 CC135_HUMAN coiled-coil domain containing 135 260 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 GGTTTGAGCAGGAGCAAGAGG 0.562000 16 30 0 0 0.004007 0 0 OR5F1 338674 broad.mit.edu 37 11 55761292 55761292 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:55761292C>T ENST00000278409.1 - 1 809 c.810G>A c.(808-810)caG>caA p.Q270Q NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) CCACTTTGTCCTGATTCAGGG 0.468000 26 57 0 0 0.004656 0 0 EBF1 1879 broad.mit.edu 37 5 158204487 158204487 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:158204487C>T ENST00000313708.6 - 10 1252 c.970G>A c.(970-972)Gaa>Aaa p.E324K EBF1_ENST00000517373.1_Missense_Mutation_p.E316K|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.E293K NM_024007.3 NP_076870.1 Q9UH73 COE1_HUMAN early B-cell factor 1 324 IPT/TIG. multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGTGTGACTTCCACAACACCA 0.483000 T HMGA2 lipoma 14 52 0 0 0.003163 0 0 USH2A 7399 broad.mit.edu 37 1 215987169 215987169 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:215987169C>T ENST00000366943.2 - 49 10034 c.9648G>A c.(9646-9648)ctG>ctA p.L3216L USH2A_ENST00000307340.3_Silent_p.L3216L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3216 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CAGTAGAATTCAGAACAAACG 0.438000 HNSCC(13;0.011) 28 32 0 0 0.005443 0 0 MMP24 10893 broad.mit.edu 37 20 33851659 33851659 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:33851659G>A ENST00000246186.6 + 5 968 c.883G>A c.(883-885)Gac>Aac p.D295N MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000453892.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000566203.1_RNA|EDEM2_ENST00000540582.1_Intron NM_006690.3 NP_006681.1 Q9Y5R2 MMP24_HUMAN matrix metallopeptidase 24 (membrane-inserted) 295 proteolysis integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5) 14 BRCA - Breast invasive adenocarcinoma(18;0.00252) GCACTCCAGCGACCCCAGCGC 0.622000 5 13 0 0 0.001168 0 0 SCN9A 6335 broad.mit.edu 37 2 167056260 167056260 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:167056260A>G ENST00000375387.4 - 27 5232 c.4892T>C c.(4891-4893)aTc>aCc p.I1631T SCN9A_ENST00000409672.1_Missense_Mutation_p.I1619T|SCN9A_ENST00000409435.1_Missense_Mutation_p.I1630T|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.I1631T Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1630 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) CAGCGTGCGGATCCCCTTTGC 0.498000 31 53 0 0 0.008361 0 0 COL4A4 1286 broad.mit.edu 37 2 227954672 227954672 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:227954672C>T ENST00000396625.3 - 21 1578 c.1369_splice c.e21-1 p.V457_splice COL4A4_ENST00000329662.7_Splice_Site_p.V457_splice NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 457 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TACAGTATATCACTGTCAAGG 0.478000 15 20 0 0 0.004007 0 0 SORCS3 22986 broad.mit.edu 37 10 106865239 106865239 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:106865239C>T ENST00000369701.3 + 7 1405 c.1178C>T c.(1177-1179)tCc>tTc p.S393F NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 393 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GACATCAGTTCCCTGGTTGTC 0.498000 17 57 0 0 0.004990 0 0 GDF9 2661 broad.mit.edu 37 5 132197865 132197865 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:132197865G>A ENST00000378673.2 - 3 1647 c.781C>T c.(781-783)Ccc>Tcc p.P261S GDF9_ENST00000296875.2_Missense_Mutation_p.P261S O60383 GDF9_HUMAN growth differentiation factor 9 261 female gamete generation|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 22 all_cancers(142;0.105)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATCAGTGAGGGGGACACCAGA 0.438000 11 24 0 0 0.001855 0 0 TPTEP1 387590 broad.mit.edu 37 22 17117938 17117938 + RNA SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:17117938T>A ENST00000426585.1 + 0 238 AGCAGCAAGATTAAGAAAATT 0.294000 5 24 0 0 0.001984 0 0 OR5T1 390155 broad.mit.edu 37 11 56043562 56043562 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:56043562C>T ENST00000313033.2 + 1 534 c.448C>T c.(448-450)Ccc>Tcc p.P150S NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) GAGCATGTCACCCAGAGTCTA 0.443000 54 125 0 0 0.014410 0 0 SERPINA10 51156 broad.mit.edu 37 14 94752521 94752521 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:94752521C>T ENST00000554723.1 - 4 1605 c.1187G>A c.(1186-1188)gGa>gAa p.G396E SERPINA10_ENST00000261994.4_Missense_Mutation_p.G356E|SERPINA10_ENST00000393096.1_Missense_Mutation_p.G356E|SERPINA10_ENST00000554173.1_Missense_Mutation_p.G356E Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 356 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) TCTTCTGATTCCCATCTGCCT 0.433000 14 45 0 0 0.002450 0 0 TPTE 7179 broad.mit.edu 37 21 10969106 10969106 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr21:10969106C>T ENST00000361285.4 - 7 471 c.142G>A c.(142-144)Gga>Aga p.G48R TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Intron|TPTE_ENST00000298232.7_Intron NM_199261.2 NP_954870.2 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 48 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CGGGCTGCTCCTTTAAATTCA 0.468000 31 97 0 0 0.007835 0 0 HECW2 57520 broad.mit.edu 37 2 197122610 197122610 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:197122610C>T ENST00000260983.2 - 18 3538 c.3356G>A c.(3355-3357)cGa>cAa p.R1119Q HECW2_ENST00000409111.1_Missense_Mutation_p.R763Q NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 1119 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 CCCTTCAGTTCGGATAAATTG 0.403000 19 63 0 0 0.010504 0 0 SMAD9 4093 broad.mit.edu 37 13 37427707 37427707 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:37427707G>A ENST00000379826.4 - 6 1451 c.1109C>T c.(1108-1110)cCa>cTa p.P370L SMAD9_ENST00000350148.5_Missense_Mutation_p.P333L|SMAD9_ENST00000399275.2_Missense_Mutation_p.P370L NM_001127217.2 NP_001120689.1 O15198 SMAD9_HUMAN SMAD family member 9 370 MH2. BMP signaling pathway|transforming growth factor beta receptor signaling pathway cytosol|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8) 18 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) GACGGTAGCTGGGTGGAAGCC 0.572000 7 16 0 0 0.003080 0 0 GLRA3 8001 broad.mit.edu 37 4 175649825 175649825 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:175649825G>A ENST00000274093.3 - 4 794 c.292C>T c.(292-294)Cgt>Tgt p.R98C GLRA3_ENST00000436738.1_5'UTR|GLRA3_ENST00000340217.5_Missense_Mutation_p.R98C NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 98 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity p.R98C(1) endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) CATTTCTGACGAAGAAAGATA 0.383000 22 29 0 0 0.014323 0 0 SLC6A13 6540 broad.mit.edu 37 12 352957 352957 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:352957G>A ENST00000343164.4 - 3 277 c.225C>T c.(223-225)ctC>ctT p.L75L SLC6A13_ENST00000445055.2_Intron NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 75 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) AGAGGAAGACGAGGTAGGGGA 0.527000 16 16 0 0 0.004990 0 0 RIMS2 9699 broad.mit.edu 37 8 105263968 105263968 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:105263968C>T ENST00000507740.1 + 22 3648 c.3412C>T c.(3412-3414)Cca>Tca p.P1138S RIMS2_ENST00000436393.2_Missense_Mutation_p.P1342S|RIMS2_ENST00000262231.10_Missense_Mutation_p.P1163S|RIMS2_ENST00000339750.2_Missense_Mutation_p.P260S|RIMS2_ENST00000406091.3_Missense_Mutation_p.P1324S NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1386 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CCTAGTAGATCCAACCTTGGC 0.433000 HNSCC(12;0.0054) 39 97 0 0 0.006999 0 0 MUC16 94025 broad.mit.edu 37 19 9072763 9072763 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9072763G>A ENST00000397910.4 - 3 14886 c.14683C>T c.(14683-14685)Cct>Tct p.P4895S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4897 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 CTCAGTTTAGGAGTCAGGGAG 0.488000 67 146 0 0 0.014410 0 0 CNTNAP2 26047 broad.mit.edu 37 7 148080978 148080978 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:148080978C>T ENST00000361727.3 + 22 4229 c.3713C>T c.(3712-3714)tCa>tTa p.S1238L CNTNAP2_ENST00000538075.1_Missense_Mutation_p.S297L|CNTNAP2_ENST00000463592.2_3'UTR NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1238 behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CACCTGGATTCAGGTAAAGTC 0.547000 HNSCC(39;0.1) 7 14 0 0 0.003080 0 0 ASTN2 23245 broad.mit.edu 37 9 119976741 119976741 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:119976741C>T ENST00000313400.4 - 3 1011 c.911G>A c.(910-912)cGg>cAg p.R304Q ASTN2_ENST00000373996.3_Missense_Mutation_p.R304Q|ASTN2_ENST00000361209.2_Missense_Mutation_p.R304Q|ASTN2_ENST00000361477.3_5'UTR O75129 ASTN2_HUMAN astrotactin 2 304 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 ATGGTTGGCCCGCCTAGGTGG 0.592000 11 50 0 0 0.008291 0 0 CDH10 1008 broad.mit.edu 37 5 24535818 24535818 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:24535818C>T ENST00000264463.4 - 4 1147 c.640G>A c.(640-642)Gaa>Aaa p.E214K NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 214 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) TGACCTGTTTCAGGCTCCACA 0.428000 HNSCC(23;0.051) 4 25 0 0 0.001168 0 0 HRNR 388697 broad.mit.edu 37 1 152190845 152190845 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:152190845G>A ENST00000368801.2 - 3 3335 c.3260C>T c.(3259-3261)tCg>tTg p.S1087L FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1087 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) GCCACAGCTCGATGACTGTCC 0.562000 113 187 0 0 0.014410 0 0 PLCG2 5336 broad.mit.edu 37 16 81914536 81914536 + Missense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:81914536G>T ENST00000359376.3 + 8 884 c.670G>T c.(670-672)Gat>Tat p.D224Y NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 224 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 ATTCAAAAAGGATTCGTCCGT 0.498000 8 85 0.000157383 0.000170414 0.003080 1 0 KCNG1 3755 broad.mit.edu 37 20 49626804 49626804 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:49626804G>A ENST00000371571.4 - 2 357 c.72C>T c.(70-72)ttC>ttT p.F24F KCNG1_ENST00000396017.3_Silent_p.F24F NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 24 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 AGGCCGGGTGGAAGGAGGCGT 0.677000 8 29 0 0 0.004482 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222568 140222568 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140222568C>T ENST00000531613.1 + 1 1662 c.1662C>T c.(1660-1662)ttC>ttT p.F554F PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.F554F|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_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) TGCAGGTGTTCGTGCTGGACG 0.701000 17 44 0 0 0.006122 0 0 LDHC 3948 broad.mit.edu 37 11 18451403 18451403 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:18451403C>T ENST00000541669.1 + 4 475 c.364C>T c.(364-366)Cct>Tct p.P122S LDHC_ENST00000535809.1_Missense_Mutation_p.P122S|LDHC_ENST00000546146.1_Intron|LDHC_ENST00000537486.1_Missense_Mutation_p.P122S|LDHC_ENST00000280704.4_Missense_Mutation_p.P122S|LDHC_ENST00000544105.1_Missense_Mutation_p.P122S|LDHC_ENST00000536880.1_Missense_Mutation_p.P108S P07864 LDHC_HUMAN lactate dehydrogenase C 122 glycolysis cytoplasm binding|L-lactate dehydrogenase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 NADH(DB00157) ATCAATCATTCCTGCCATAGT 0.423000 14 56 0 0 0.002450 0 0 NLRP13 126204 broad.mit.edu 37 19 56423744 56423744 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:56423744C>T ENST00000588751.1 - 5 1463 c.1439G>A c.(1438-1440)tGg>tAg p.W480* NLRP13_ENST00000342929.3_Nonsense_Mutation_p.W480* Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 480 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GAGGGCCCTCCATTGTCCTGG 0.488000 27 39 0 0 0.006320 0 0 TENM3 55714 broad.mit.edu 37 4 183664443 183664443 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:183664443C>T ENST00000511685.1 + 19 3623 c.3500C>T c.(3499-3501)gCt>gTt p.A1167V TENM3_ENST00000406950.2_Missense_Mutation_p.A1167V|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 AATGGTCAAGCTGATGGTAAC 0.547000 13 17 0 0 0.013537 0 0 PRMT2 3275 broad.mit.edu 37 21 48068379 48068379 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr21:48068379T>C ENST00000397637.1 + 5 1291 c.337T>C c.(337-339)Ttg>Ctg p.L113L PRMT2_ENST00000397638.2_Silent_p.L113L|PRMT2_ENST00000291705.6_Silent_p.L113L|PRMT2_ENST00000451211.2_Silent_p.L113L|PRMT2_ENST00000334494.4_Silent_p.L113L|PRMT2_ENST00000397628.1_Silent_p.L113L|PRMT2_ENST00000355680.3_Silent_p.L113L|PRMT2_ENST00000491389.1_3'UTR|PRMT2_ENST00000458387.2_Silent_p.L113L|PRMT2_ENST00000440086.1_Silent_p.L113L P55345 ANM2_HUMAN protein arginine methyltransferase 2 113 Interaction with RB1 (By similarity). developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway cytosol|nucleus androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 Breast(49;0.247) Lung NSC(3;0.245) Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248) GAAACTCCACTTGGAGATGTT 0.502000 28 24 0 0 0.004656 0 0 SLC22A10 387775 broad.mit.edu 37 11 63067087 63067087 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:63067087C>T ENST00000544661.1 + 7 1019 c.591C>T c.(589-591)atC>atT p.I197I SLC22A10_ENST00000526800.1_Silent_p.I192I|SLC22A10_ENST00000535888.1_Silent_p.I142I|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000332793.6_Silent_p.I352I Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 352 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GGATCTGTATCCTGGTATTTT 0.423000 13 17 0 0 0.001855 0 0 SHROOM1 134549 broad.mit.edu 37 5 132161789 132161789 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:132161789G>A ENST00000378679.3 - 4 848 c.44C>T c.(43-45)tCg>tTg p.S15L SHROOM1_ENST00000378676.1_Missense_Mutation_p.S15L|SHROOM1_ENST00000319854.3_Missense_Mutation_p.S15L NM_001172700.1 NP_001166171.1 Q2M3G4 SHRM1_HUMAN shroom family member 1 15 actin filament bundle assembly|cell morphogenesis cytoplasm|microtubule actin filament binding endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GCTAGTGGACGAGGCCGGGGA 0.701000 4 14 0 0 0.000602 0 0 DNAH17 8632 broad.mit.edu 37 17 76525737 76525737 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:76525737C>T ENST00000389840.5 - 22 3448 c.3324G>A c.(3322-3324)atG>atA p.M1108I DNAH17_ENST00000585328.1_Missense_Mutation_p.M1105I dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TGGTCAAGCCCATTCTGGCGA 0.582000 23 13 0 0 0.003330 0 0 LCA5 167691 broad.mit.edu 37 6 80197078 80197078 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:80197078G>A ENST00000392959.1 - 9 2348 c.1737C>T c.(1735-1737)ttC>ttT p.F579F LCA5_ENST00000369846.4_Silent_p.F579F NM_181714.3 NP_859065.2 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 579 protein transport cilium axoneme|microtubule basal body protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) TGTTTCTTTGGAAATCCAAAA 0.353000 15 41 0 0 0.003163 0 0 SRGAP3 9901 broad.mit.edu 37 3 9055023 9055023 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:9055023C>T ENST00000383836.3 - 17 2543 c.2116G>A c.(2116-2118)Gaa>Aaa p.E706K SRGAP3_ENST00000360413.3_Missense_Mutation_p.E682K NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 706 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) ATGCATTTTTCATACACAGGT 0.433000 T RAF1 pilocytic astrocytoma 21 31 0 0 0.014323 0 0 ALPK3 57538 broad.mit.edu 37 15 85399721 85399721 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:85399721C>T ENST00000258888.5 + 6 2525 c.2358C>T c.(2356-2358)atC>atT p.I786I NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 786 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) GTCAAGGTATCATTGAACCCA 0.517000 13 34 0 0 0.002450 0 0 CHD5 26038 broad.mit.edu 37 1 6191793 6191793 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:6191793C>T ENST00000262450.3 - 21 3259 c.3160G>A c.(3160-3162)Gac>Aac p.D1054N CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1054 Helicase C-terminal. 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) TCCAGGAGGTCCAGCATCTTG 0.632000 20 38 0 0 0.014323 0 0 CUL4B 8450 broad.mit.edu 37 X 119674287 119674287 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:119674287G>A ENST00000371322.5 - 11 1635 c.1574C>T c.(1573-1575)gCc>gTc p.A525V CUL4B_ENST00000404115.3_Missense_Mutation_p.A543V|CUL4B_ENST00000336592.6_Missense_Mutation_p.A530V NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 543 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TTCTTTCATGGCATTGATAAA 0.313000 6 17 0 0 0.003080 0 0 CPN1 1369 broad.mit.edu 37 10 101816839 101816839 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:101816839A>T ENST00000370418.3 - 6 1193 c.942T>A c.(940-942)ttT>ttA p.F314L NM_001308.2 NP_001299.1 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 314 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) CTTCGGGGGGAAACTTGTCGC 0.473000 41 130 0 0 0.014410 0 0 KCNH6 81033 broad.mit.edu 37 17 61611507 61611507 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:61611507C>T ENST00000583023.1 + 5 947 c.936C>T c.(934-936)gtC>gtT p.V312V KCNH6_ENST00000456941.2_Silent_p.V312V|KCNH6_ENST00000580652.1_Silent_p.V312V|KCNH6_ENST00000581784.1_Silent_p.V312V|KCNH6_ENST00000314672.5_Silent_p.V312V NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 312 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) TCATGTTCGTCGTGGACATCG 0.582000 22 157 0 0 0.003954 0 0 CYP2C18 1562 broad.mit.edu 37 10 96484114 96484114 + Nonsense_Mutation SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:96484114G>T ENST00000285979.6 + 7 1172 c.973G>T c.(973-975)Gaa>Taa p.E325* CYP2C18_ENST00000339022.5_Nonsense_Mutation_p.E266*|CYP2C19_ENST00000464755.1_3'UTR 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) TAAAGTCCAGGAAGAGATTGA 0.453000 10 46 2.80697e-09 3.06475e-09 0.010729 1 0 KDM7A 80853 broad.mit.edu 37 7 139791651 139791651 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:139791651T>A ENST00000397560.2 - 19 2781 c.2684A>T c.(2683-2685)aAg>aTg p.K895M NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 895 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) TGCCGGTCTCTTGGTGGGGTG 0.483000 11 121 0 0 0.004007 0 0 PLBD1 79887 broad.mit.edu 37 12 14693812 14693812 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:14693812T>C ENST00000240617.5 - 4 1096 c.444A>G c.(442-444)aaA>aaG p.K148K NM_024829.5 NP_079105.4 Q6P4A8 PLBL1_HUMAN phospholipase B domain containing 1 148 lipid catabolic process extracellular region hydrolase activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 CTTTGATATTTTTCCGGGTCC 0.398000 64 33 0 0 0.014410 0 0 TECTA 7007 broad.mit.edu 37 11 120979942 120979942 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:120979942C>T ENST00000392793.1 + 4 492 c.221C>T c.(220-222)tCc>tTc p.S74F TECTA_ENST00000264037.2_Missense_Mutation_p.S74F O75443 TECTA_HUMAN tectorin alpha 74 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GGAGTTGTTTCCTTCAATGTG 0.458000 10 17 0 0 0.006214 0 0 CCDC54 84692 broad.mit.edu 37 3 107096817 107096817 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:107096817C>T ENST00000261058.1 + 1 630 c.383C>T c.(382-384)tCt>tTt p.S128F NM_032600.2 NP_115989.1 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 128 NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 19 GATATCCTCTCTATGAAAGAA 0.393000 5 12 0 0 0.001984 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7672755 7672755 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:7672755G>A ENST00000446248.2 + 6 803 c.e6+1 CAMSAP3_ENST00000160298.4_Intron NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 ACCCCCCATGGTAATGTATCC 0.657000 15 11 0 0 0.006122 0 0 NXPE4 54827 broad.mit.edu 37 11 114453029 114453029 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:114453029C>T ENST00000375478.3 - 3 991 c.811G>A c.(811-813)Gaa>Aaa p.E271K NXPE4_ENST00000424261.2_Intron NM_001077639.1 NP_001071107.1 neurexophilin and PC-esterase domain family, member 4 AGGCTCTTTTCTTGTTTGCTA 0.383000 11 33 0 0 0.010729 0 0 COL12A1 1303 broad.mit.edu 37 6 75899049 75899049 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:75899049C>T ENST00000322507.8 - 7 1016 c.707G>A c.(706-708)gGg>gAg p.G236E COL12A1_ENST00000483888.2_Missense_Mutation_p.G236E|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.G236E NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 236 VWFA 1. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 AACTCTTGCCCCAGCAGATTC 0.378000 7 22 0 0 0.001984 0 0 TG 7038 broad.mit.edu 37 8 133923647 133923647 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:133923647C>T ENST00000220616.4 + 19 4068 c.4028C>T c.(4027-4029)tCc>tTc p.S1343F TG_ENST00000377869.1_Missense_Mutation_p.S1343F NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1343 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) ACCCTGGTTTCCATTCCTGTC 0.488000 45 65 0 0 0.014410 0 0 CNTN5 53942 broad.mit.edu 37 11 99690398 99690398 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:99690398G>A ENST00000524871.1 + 4 469 c.179G>A c.(178-180)gGa>gAa p.G60E CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000528682.1_Missense_Mutation_p.G60E|CNTN5_ENST00000527185.1_Missense_Mutation_p.G60E|CNTN5_ENST00000279463.3_Missense_Mutation_p.G60E NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 60 cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CCTTCATTAGGAACACTGAGT 0.433000 18 31 0 0 0.004990 0 0 TAS1R1 80835 broad.mit.edu 37 1 6634974 6634974 + Missense_Mutation SNP G G C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:6634974G>C ENST00000333172.6 + 3 975 c.782G>C c.(781-783)cGc>cCc p.R261P TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Missense_Mutation_p.R261P NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 261 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) TGCCTCATGCGCCACCTGGCC 0.612000 14 55 0 0 0.002450 0 0 TRBV5-7 28608 broad.mit.edu 37 7 142111506 142111506 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:142111506C>T ENST00000390378.1 - 0 229 AGGGAAGTTTCCTCTTCCTCT 0.507000 19 60 0 0 0.008871 0 0 FAT4 79633 broad.mit.edu 37 4 126412421 126412421 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:126412421C>T ENST00000394329.3 + 17 14457 c.14444C>T c.(14443-14445)tCa>tTa p.S4815L FAT4_ENST00000335110.5_Missense_Mutation_p.S3056L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4815 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 AGGTCTTCTTCAGAGGAGGAC 0.507000 18 18 0 0 0.008871 0 0 ACKR2 1238 broad.mit.edu 37 3 42906396 42906396 + Silent SNP C C T rs146152018 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:42906396C>T ENST00000422265.1 + 3 577 c.402C>T c.(400-402)ttC>ttT p.F134F KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000273145.2_Silent_p.F134F|ACKR2_ENST00000471537.1_Intron|ACKR2_ENST00000442925.1_Silent_p.F134F|CYP8B1_ENST00000437102.1_Intron NM_001296.4 NP_001287.2 atypical chemokine receptor 2 p.F134F(1) GCATCTTTTTCATTAGCTGCA 0.517000 34 129 0 0 0.007835 0 0 OR2B2 81697 broad.mit.edu 37 6 27879581 27879581 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:27879581C>T ENST00000303324.2 - 1 593 c.517G>A c.(517-519)Gaa>Aaa p.E173K NM_033057.2 NP_149046.2 Q9GZK3 OR2B2_HUMAN olfactory receptor, family 2, subfamily B, member 2 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 22 TGATCCACTTCTTTGTGACCA 0.463000 33 43 0 0 0.012213 0 0 A1CF 29974 broad.mit.edu 37 10 52573620 52573620 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:52573620G>A ENST00000395489.2 - 12 1719 c.1323C>T c.(1321-1323)ccC>ccT p.P441P A1CF_ENST00000374001.1_Silent_p.P440P|A1CF_ENST00000373993.1_Silent_p.P448P|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395495.1_Silent_p.P393P|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373997.3_Silent_p.P440P|A1CF_ENST00000282641.2_Silent_p.P448P|A1CF_ENST00000373995.3_Silent_p.P448P NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 448 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 TACCTACCTGGGGAGCGAGTT 0.388000 17 47 0 0 0.007413 0 0 SLC35A4 113829 broad.mit.edu 37 5 139946813 139946813 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:139946813C>T ENST00000514199.1 + 2 1745 c.59C>T c.(58-60)aCc>aTc p.T20I APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.T20I|SLC35A4_ENST00000508770.1_3'UTR Q96G79 S35A4_HUMAN solute carrier family 35, member A4 20 Golgi membrane|integral to membrane sugar:hydrogen symporter activity endometrium(4)|kidney(2)|large_intestine(3)|lung(4) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCGCTGGACCCTGATGCTA 0.647000 17 59 0 0 0.006122 0 0 ACSL5 51703 broad.mit.edu 37 10 114169281 114169281 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:114169281G>A ENST00000393081.1 + 7 856 c.549G>A c.(547-549)gtG>gtA p.V183V ACSL5_ENST00000433418.1_Silent_p.V183V|ACSL5_ENST00000354655.4_Silent_p.V183V|ACSL5_ENST00000356116.1_Silent_p.V239V|ACSL5_ENST00000354273.4_Silent_p.V183V NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 183 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) TCGCCATGGTGATCTGTGACA 0.478000 17 74 0 0 0.010504 0 0 THSD7A 221981 broad.mit.edu 37 7 11633072 11633072 + Missense_Mutation SNP C C G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:11633072C>G ENST00000423059.3 - 3 1331 c.1080G>C c.(1078-1080)gaG>gaC p.E360D NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 360 TSP type-1 3. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) AAACCTGGCACTCTTTGGTGA 0.507000 HNSCC(18;0.044) 42 49 0 0 0.008740 0 0 RGPD4 285190 broad.mit.edu 37 2 108475844 108475844 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:108475844C>T ENST00000408999.3 + 11 1545 c.1468C>T c.(1468-1470)Ctt>Ttt p.L490F RGPD4_ENST00000354986.4_Missense_Mutation_p.L490F NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 490 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 GGTATTTCTCCTTGGAGTAGT 0.313000 22 51 0 0 0.013726 0 0 OR2J3 442186 broad.mit.edu 37 6 29079901 29079901 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:29079901C>T ENST00000377169.1 + 1 234 c.234C>T c.(232-234)acC>acT p.T78T NM_001005216.2 NP_001005216.2 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, member 3 78 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 GCTACACCACCAGCTCTATCC 0.473000 52 109 0 0 0.014410 0 0 EPHB2 2048 broad.mit.edu 37 1 23111267 23111267 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:23111267C>T ENST00000400191.3 + 3 527 c.509C>T c.(508-510)tCc>tTc p.S170F EPHB2_ENST00000544305.1_Missense_Mutation_p.S170F|EPHB2_ENST00000374630.3_Missense_Mutation_p.S170F|EPHB2_ENST00000374627.1_Missense_Mutation_p.S164F|EPHB2_ENST00000374632.3_Missense_Mutation_p.S170F NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 170 axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) GGACCTGTGTCCCGCAGCGGC 0.607000 8 24 0 0 0.003080 0 0 SNX9 51429 broad.mit.edu 37 6 158296089 158296089 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:158296089C>T ENST00000392185.3 + 4 352 c.181C>T c.(181-183)Ccc>Tcc p.P61S RP11-52J3.2_ENST00000422776.1_RNA|RP11-52J3.2_ENST00000457427.1_RNA NM_016224.3 NP_057308.1 Q9Y5X1 SNX9_HUMAN sorting nexin 9 61 SH3. cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network 1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 20 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167) OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05) TCAGATTTTACCCAGTGATGG 0.443000 7 44 0 0 0.003080 0 0 TACC2 10579 broad.mit.edu 37 10 123970371 123970371 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:123970371C>T ENST00000369005.1 + 9 6771 c.6431C>T c.(6430-6432)cCc>cTc p.P2144L TACC2_ENST00000334433.3_Missense_Mutation_p.P2144L|TACC2_ENST00000358010.1_Missense_Mutation_p.P290L|TACC2_ENST00000515273.1_Missense_Mutation_p.P2148L|TACC2_ENST00000515603.1_Missense_Mutation_p.P2099L|TACC2_ENST00000368999.1_Missense_Mutation_p.P222L|TACC2_ENST00000360561.3_Missense_Mutation_p.P222L|TACC2_ENST00000260733.3_Missense_Mutation_p.P222L|TACC2_ENST00000453444.2_Missense_Mutation_p.P2148L|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000369004.3_Missense_Mutation_p.P222L|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000513429.1_Missense_Mutation_p.P290L NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2144 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) ACCAAGAAACCCACAGAGACC 0.507000 13 75 0 0 0.013537 0 0 PEX2 5828 broad.mit.edu 37 8 77895647 77895647 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:77895647G>A ENST00000419564.2 - 4 1232 c.768C>T c.(766-768)acC>acT p.T256T PEX2_ENST00000520103.1_Silent_p.T256T|PEX2_ENST00000357039.4_Silent_p.T256T|PEX2_ENST00000522527.1_Silent_p.T256T NM_001172087.1 NP_001165558.1 P28328 PEX2_HUMAN peroxisomal biogenesis factor 2 256 peroxisome organization integral to peroxisomal membrane protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 14 CACATCCTATGGTGTGAGGCA 0.438000 13 63 0 0 0.003163 0 0 PLEKHM3 389072 broad.mit.edu 37 2 208725854 208725854 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:208725854G>A ENST00000427836.2 - 7 2572 c.2083C>T c.(2083-2085)Cct>Tct p.P695S PLEKHM3_ENST00000389247.4_Missense_Mutation_p.P695S NM_001080475.2 NP_001073944.1 Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, member 3 695 intracellular signal transduction metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TCCTCAAAAGGGTAGAGGATC 0.403000 27 83 0 0 0.012213 0 0 PSG3 5671 broad.mit.edu 37 19 43242934 43242934 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:43242934G>A ENST00000327495.5 - 2 556 c.372C>T c.(370-372)atC>atT p.I124I PSG3_ENST00000595140.1_Silent_p.I124I|PSG3_ENST00000490592.1_5'UTR NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 124 Ig-like V-type. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) CTCGCTTTACGATGTGTAAGG 0.517000 47 289 0 0 0.014410 0 0 MARCO 8685 broad.mit.edu 37 2 119739064 119739064 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:119739064C>T ENST00000541757.1 + 10 992 c.612C>T c.(610-612)ttC>ttT p.F204F MARCO_ENST00000327097.4_Silent_p.F282F Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 282 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 AAGGTGACTTCGGGAGGCCAG 0.527000 8 12 0 0 0.003080 0 0 DEFB115 245929 broad.mit.edu 37 20 29845491 29845491 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:29845491C>T ENST00000400552.1 + 1 25 c.25C>T c.(25-27)Ctc>Ttc p.L9F NM_001037730.1 NP_001032819.1 Q30KQ5 DB115_HUMAN defensin, beta 115 9 defense response to bacterium extracellular region kidney(1)|lung(3)|ovary(1)|skin(1) 6 Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347) TTTCTCACCCCTCTCAGGAGA 0.502000 13 34 0 0 0.001855 0 0 CYP3A7 1551 broad.mit.edu 37 7 99308381 99308381 + Missense_Mutation SNP C C T rs147031398 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:99308381C>T ENST00000336374.2 - 10 1002 c.1000G>A c.(1000-1002)Gaa>Aaa p.E334K NM_000765.3 NP_000756.2 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 7 334 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) GTATCAATTTCCTTCTGCACT 0.453000 17 32 0 0 0.006122 0 0 TTN 7273 broad.mit.edu 37 2 179416365 179416365 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179416365G>A ENST00000589042.1 - 335 91486 c.91262C>T c.(91261-91263)tCt>tTt p.S30421F TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S21356F|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S21481F|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S27853F|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S21548F|TTN_ENST00000591111.1_Missense_Mutation_p.S28780F|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28780 Ig-like 137. 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) ACCTACTGGAGAAACAGCTAA 0.368000 6 22 0 0 0.001168 0 0 FLNB 2317 broad.mit.edu 37 3 58112447 58112447 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:58112447G>A ENST00000357272.4 + 24 4345 c.4180G>A c.(4180-4182)Gat>Aat p.D1394N FLNB_ENST00000493452.1_Missense_Mutation_p.D1225N|FLNB_ENST00000490882.1_Missense_Mutation_p.D1394N|FLNB_ENST00000429972.2_Missense_Mutation_p.D1394N|FLNB_ENST00000419752.2_Missense_Mutation_p.D1225N|FLNB_ENST00000358537.3_Missense_Mutation_p.D1394N|FLNB_ENST00000348383.5_Missense_Mutation_p.D1394N|FLNB_ENST00000295956.4_Missense_Mutation_p.D1394N O75369 FLNB_HUMAN filamin B, beta 1394 Interaction with FBLP1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CGCACCGGGGGATTACGATGT 0.478000 24 37 0 0 0.004656 0 0 ASTN2 23245 broad.mit.edu 37 9 119903672 119903672 + Silent SNP G G A rs140458736 by1000genomes TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:119903672G>A ENST00000313400.4 - 4 1201 c.1101C>T c.(1099-1101)atC>atT p.I367I ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Silent_p.I367I|ASTN2_ENST00000361209.2_Intron O75129 ASTN2_HUMAN astrotactin 2 367 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 GCAGCTGACCGATCTCGATGG 0.587000 15 19 0 0 0.003163 0 0 LRP1 4035 broad.mit.edu 37 12 57600306 57600306 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:57600306C>T ENST00000243077.3 + 76 12107 c.11641C>T c.(11641-11643)Ctg>Ttg p.L3881L NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3881 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) GATCCGCAGCCTGTTCCCCGG 0.597000 14 12 0 0 0.002450 0 0 SCN5A 6331 broad.mit.edu 37 3 38646304 38646304 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:38646304C>T ENST00000413689.1 - 11 1627 c.1434G>A c.(1432-1434)agG>agA p.R478R SCN5A_ENST00000449557.2_Silent_p.R478R|SCN5A_ENST00000451551.2_Silent_p.R478R|SCN5A_ENST00000425664.1_Silent_p.R478R|SCN5A_ENST00000423572.2_Silent_p.R478R|SCN5A_ENST00000450102.2_Silent_p.R478R|SCN5A_ENST00000455624.2_Silent_p.R478R|SCN5A_ENST00000414099.2_Silent_p.R478R|SCN5A_ENST00000333535.4_Silent_p.R478R|SCN5A_ENST00000443581.1_Silent_p.R478R NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 478 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) TCCGTTTTCTCCTCTTGCTTC 0.557000 6 18 0 0 0.001168 0 0 CHST4 10164 broad.mit.edu 37 16 71570729 71570729 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:71570729C>T ENST00000338482.5 + 3 492 c.149C>T c.(148-150)tCc>tTc p.S50F CHST4_ENST00000539698.3_Missense_Mutation_p.S50F|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Missense_Mutation_p.S50F|RP11-510M2.9_ENST00000572693.1_RNA Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 50 cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 21 GTTCTGTCTTCCTGGCGCTCT 0.552000 27 38 0 0 0.005443 0 0 KIAA1210 57481 broad.mit.edu 37 X 118221678 118221678 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:118221678G>A ENST00000402510.2 - 11 3514 c.3515C>T c.(3514-3516)tCa>tTa p.S1172L NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 1172 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 CTCTAGTCGTGAGGTCATTTC 0.468000 15 11 0 0 0.003163 0 0 PGLYRP3 114771 broad.mit.edu 37 1 153276396 153276396 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:153276396G>A ENST00000290722.1 - 4 518 c.466C>T c.(466-468)Cag>Tag p.Q156* NM_052891.1 NP_443123.1 Q96LB9 PGRP3_HUMAN peptidoglycan recognition protein 3 156 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 28 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) AGAAGTGGCTGAATATACCTG 0.557000 23 71 0 0 0.002780 0 0 GRAMD1C 54762 broad.mit.edu 37 3 113634601 113634601 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:113634601C>T ENST00000358160.4 + 10 1498 c.1006C>T c.(1006-1008)Cat>Tat p.H336Y GRAMD1C_ENST00000440446.2_Missense_Mutation_p.H131Y|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.H65Y|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.H169Y|GRAMD1C_ENST00000479212.1_3'UTR NM_017577.4 NP_060047.3 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 336 integral to membrane NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 26 CCGTATTTTTCATATCAGTGC 0.338000 10 39 0 0 0.008291 0 0 CLK2 1196 broad.mit.edu 37 1 155233748 155233748 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:155233748G>A ENST00000368361.4 - 12 1625 c.1310C>T c.(1309-1311)cCg>cTg p.P437L CLK2_ENST00000361168.5_Missense_Mutation_p.P436L|CLK2_ENST00000355560.4_Missense_Mutation_p.P435L|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Missense_Mutation_p.P437L P49760 CLK2_HUMAN CDC-like kinase 2 437 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CACCCGCAGCGGTTTGCAGTT 0.542000 Other conserved DNA damage response genes 46 67 0 0 0.014410 0 0 PAG1 55824 broad.mit.edu 37 8 81897132 81897132 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:81897132G>A ENST00000220597.4 - 7 1465 c.755C>T c.(754-756)cCa>cTa p.P252L NM_018440.3 NP_060910.3 Q9NWQ8 PAG1_HUMAN phosphoprotein associated with glycosphingolipid microdomains 1 252 epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding|SH3/SH2 adaptor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2) 11 Lung NSC(7;5.76e-06)|all_lung(9;2e-05) BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197) CTCCTCTTCTGGATCACATGA 0.483000 39 77 0 0 0.008740 0 0 PREX1 57580 broad.mit.edu 37 20 47271867 47271867 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:47271867G>A ENST00000396220.1 - 19 2192 c.2170C>T c.(2170-2172)Cgt>Tgt p.R724C PREX1_ENST00000371941.3_Missense_Mutation_p.R724C Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 724 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity p.R724C(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GCAGCTCCACGAATCTGGAAG 0.562000 4 16 0 0 0.001168 0 0 SESN1 27244 broad.mit.edu 37 6 109319812 109319812 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:109319812G>A ENST00000436639.2 - 5 1621 c.876C>T c.(874-876)ttC>ttT p.F292F RP11-787I22.3_ENST00000605885.1_RNA|SESN1_ENST00000302071.2_Silent_p.F167F|SESN1_ENST00000356644.7_Silent_p.F233F NM_014454.2 NP_055269.1 Q9Y6P5 SESN1_HUMAN sestrin 1 233 cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus nucleus cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 10 all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637) Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117) AAGGAGGTCTGAATGTGTGGC 0.428000 35 78 0 0 0.004289 0 0 GPR15 2838 broad.mit.edu 37 3 98251319 98251319 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:98251319G>A ENST00000284311.3 + 1 577 c.442G>A c.(442-444)Gac>Aac p.D148N NM_005290.1 NP_005281.1 P49685 GPR15_HUMAN G protein-coupled receptor 15 148 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) CAGAAGGACAGACTGTGCATA 0.522000 13 28 0 0 0.013537 0 0 GRIN2A 2903 broad.mit.edu 37 16 9923464 9923464 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:9923464A>G ENST00000396573.2 - 10 2132 c.1823T>C c.(1822-1824)cTt>cCt p.L608P GRIN2A_ENST00000330684.3_Missense_Mutation_p.L608P|GRIN2A_ENST00000535259.1_Missense_Mutation_p.L451P|GRIN2A_ENST00000562109.1_Missense_Mutation_p.L608P|GRIN2A_ENST00000396575.2_Missense_Mutation_p.L608P|GRIN2A_ENST00000404927.2_Missense_Mutation_p.L608P NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 608 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CAGGCCCCAAAGAAGCCATAT 0.448000 24 44 0 0 0.005443 0 0 SOS1 6654 broad.mit.edu 37 2 39222341 39222341 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:39222341G>A ENST00000426016.1 - 21 3355 c.3269C>T c.(3268-3270)cCg>cTg p.P1090L SOS1_ENST00000402219.2_Missense_Mutation_p.P1090L|SOS1_ENST00000395038.2_Missense_Mutation_p.P1090L Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 1090 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) AGAAGCAGGCGGAGGTGTTAA 0.443000 Noonan syndrome 28 35 0 0 0.008361 0 0 ZNF536 9745 broad.mit.edu 37 19 31039066 31039066 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:31039066G>A ENST00000355537.3 + 4 2687 c.2540G>A c.(2539-2541)gGa>gAa p.G847E NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 847 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GGTCTCCCTGGAATCGACTTC 0.577000 23 56 0 0 0.004656 0 0 IGHV3-72 28410 broad.mit.edu 37 14 107199186 107199186 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:107199186C>T ENST00000433072.2 - 0 182 CTCAGGGACCCTCCAGGCTGG 0.597000 23 40 0 0 0.014323 0 0 NFATC4 4776 broad.mit.edu 37 14 24839278 24839278 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:24839278G>A ENST00000413692.2 + 3 1007 c.863G>A c.(862-864)tGg>tAg p.W288* NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000424781.2_Nonsense_Mutation_p.W238*|NFATC4_ENST00000557451.1_Nonsense_Mutation_p.W155*|NFATC4_ENST00000555590.1_Nonsense_Mutation_p.W238*|NFATC4_ENST00000422617.3_Nonsense_Mutation_p.W213*|NFATC4_ENST00000554661.1_Nonsense_Mutation_p.W155*|NFATC4_ENST00000553879.1_Nonsense_Mutation_p.W155*|NFATC4_ENST00000554966.1_Nonsense_Mutation_p.W238*|NFATC4_ENST00000554591.1_Nonsense_Mutation_p.W288*|NFATC4_ENST00000556279.1_Nonsense_Mutation_p.W257*|NFATC4_ENST00000556169.1_Nonsense_Mutation_p.W213*|NFATC4_ENST00000554050.1_Nonsense_Mutation_p.W225*|NFATC4_ENST00000554344.1_Nonsense_Mutation_p.W155*|NFATC4_ENST00000553469.1_Nonsense_Mutation_p.W257*|NFATC4_ENST00000555453.1_Nonsense_Mutation_p.W213*|NFATC4_ENST00000250373.4_Nonsense_Mutation_p.W225*|NFATC4_ENST00000553708.1_Nonsense_Mutation_p.W225*|NFATC4_ENST00000539237.2_Nonsense_Mutation_p.W257* NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 225 2 approximate SP repeats.|Pro-rich. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) CCTCGGCCATGGACCCCCGAA 0.692000 4 20 0 0 0.009096 0 0 RNF133 168433 broad.mit.edu 37 7 122338482 122338482 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:122338482A>G ENST00000340112.2 - 1 728 c.491T>C c.(490-492)tTc>tCc p.F164S CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron NM_139175.1 NP_631914.1 Q8WVZ7 RN133_HUMAN ring finger protein 133 164 PA. endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 AATTAAATGGAAAATTTCCGT 0.423000 15 39 0 0 0.004007 0 0 OR56A3 390083 broad.mit.edu 37 11 5969065 5969065 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:5969065C>T ENST00000329564.6 + 1 496 c.489C>T c.(487-489)atC>atT p.I163I NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCTGCCCATCCCCATCCTTT 0.443000 20 41 0 0 0.007413 0 0 MUC16 94025 broad.mit.edu 37 19 9063573 9063573 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9063573G>A ENST00000397910.4 - 3 24076 c.23873C>T c.(23872-23874)tCa>tTa p.S7958L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7960 Ser-rich.|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 GCTCATCCATGATACATCCTC 0.453000 5 41 0 0 0.000602 0 0 LRP4 4038 broad.mit.edu 37 11 46921504 46921504 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:46921504C>T ENST00000378623.1 - 4 582 c.340G>A c.(340-342)Gag>Aag p.E114K NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 114 LDL-receptor class A 3. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) CAGGGAAACTCGTCCTCCTCA 0.617000 10 41 0 0 0.008291 0 0 IFNA21 3452 broad.mit.edu 37 9 21166283 21166283 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:21166283G>A ENST00000380225.1 - 1 376 c.329C>T c.(328-330)aCt>aTt p.T110I NM_002175.2 NP_002166.2 P01568 IFN21_HUMAN interferon, alpha 21 110 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3) 14 GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) GTTAAGTTCAGTGGAAAATTT 0.498000 15 94 0 0 0.002450 0 0 RHOBTB2 23221 broad.mit.edu 37 8 22864607 22864607 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:22864607C>T ENST00000251822.6 + 5 1386 c.849C>T c.(847-849)atC>atT p.I283I RHOBTB2_ENST00000519685.1_Silent_p.I305I|RHOBTB2_ENST00000522948.1_Silent_p.I290I|RP11-875O11.1_ENST00000502083.2_RNA|RP11-875O11.1_ENST00000523884.1_RNA NM_015178.2 NP_055993.2 Q9BYZ6 RHBT2_HUMAN Rho-related BTB domain containing 2 283 BTB 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 31 Prostate(55;0.0513)|Breast(100;0.214) Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) CCCACAAGATCTACCTCTCCA 0.662000 30 72 0 0 0.008361 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995039 140995039 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:140995039C>T ENST00000285879.4 + 4 2135 c.1849C>T c.(1849-1851)Cag>Tag p.Q617* MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 617 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) GAGTCCTCTTCAGGGGGAGGA 0.572000 HNSCC(15;0.026) 42 116 0 0 0.007835 0 0 C7orf65 401335 broad.mit.edu 37 7 47694908 47694908 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:47694908G>A ENST00000408988.2 + 1 67 c.32G>A c.(31-33)gGa>gAa p.G11E NM_001123065.1 NP_001116537.1 Q6ZTY9 CG065_HUMAN chromosome 7 open reading frame 65 11 endometrium(1)|lung(2) 3 TCAACAGAAGGAAGACGGCTC 0.627000 11 25 0 0 0.013537 0 0 CLCN6 1185 broad.mit.edu 37 1 11894319 11894319 + Missense_Mutation SNP C C T rs149710478 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:11894319C>T ENST00000346436.6 + 16 1605 c.1553C>T c.(1552-1554)tCg>tTg p.S518L CLCN6_ENST00000376487.3_Missense_Mutation_p.S496L|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.S518L NM_001286.3 NP_001277.1 P51797 CLCN6_HUMAN chloride channel, voltage-sensitive 6 518 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) CACATCTATTCGGGGACCTTT 0.542000 14 31 0 0 0.003163 0 0 GADL1 339896 broad.mit.edu 37 3 30842408 30842408 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:30842408C>T ENST00000454381.3 - 12 1269 c.1223G>A c.(1222-1224)aGa>aAa p.R408K GADL1_ENST00000282538.5_Missense_Mutation_p.R408K Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 408 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1) 25 Pyridoxal Phosphate(DB00114) ACGATTAACTCTTTCTTCAAG 0.468000 17 52 0 0 0.010504 0 0 SDR42E1 93517 broad.mit.edu 37 16 82032727 82032727 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:82032727G>A ENST00000328945.5 - 3 1298 c.1171C>T c.(1171-1173)Ctg>Ttg p.L391L NM_145168.2 NP_660151.2 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, member 1 391 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 CACAGTGACAGAATCACAGAA 0.453000 8 25 0 0 0.008291 0 0 CCDC88C 440193 broad.mit.edu 37 14 91760555 91760555 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:91760555C>T ENST00000389857.6 - 23 4160 c.4074G>A c.(4072-4074)gaG>gaA p.E1358E NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 1358 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) GCTCCTTGTTCTCCATGTTCT 0.547000 56 86 0 0 0.014410 0 0 HSD17B7 51478 broad.mit.edu 37 1 162767625 162767625 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:162767625C>T ENST00000367917.3 + 4 434 c.366C>T c.(364-366)ggC>ggT p.G122G HSD17B7_ENST00000254521.3_Silent_p.G122G|HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367913.1_3'UTR P56937 DHB7_HUMAN hydroxysteroid (17-beta) dehydrogenase 7 122 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_hematologic(112;0.115) NADH(DB00157) CAGCTGAAGGCCTGCTGACCC 0.413000 7 23 0 0 0.010729 0 0 OC90 729330 broad.mit.edu 37 8 133048626 133048626 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:133048626G>A ENST00000262283.5 - 13 1406 c.1307C>T c.(1306-1308)tCc>tTc p.S436F OC90_ENST00000603859.1_Intron|OC90_ENST00000443356.2_Missense_Mutation_p.S240F|OC90_ENST00000254627.3_Intron Q02509 OC90_HUMAN otoconin 90 240 Phospholipase A2-like 3. lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) ACTTTTCTTGGAGAGAGTGAT 0.448000 19 45 0 0 0.012319 0 0 CD2 914 broad.mit.edu 37 1 117311293 117311293 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:117311293C>T ENST00000369478.3 + 5 1052 c.944C>T c.(943-945)cCg>cTg p.P315L NM_001767.3 NP_001758.2 P06729 CD2_HUMAN CD2 molecule 315 Pro-rich. 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) CCTCCTGCTCCGTCGGGCACA 0.622000 25 70 0 0 0.002780 0 0 NCAM2 4685 broad.mit.edu 37 21 22841002 22841002 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr21:22841002C>T ENST00000400546.1 + 14 2043 c.1794C>T c.(1792-1794)tcC>tcT p.S598S NCAM2_ENST00000284894.7_Silent_p.S456S NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 598 Fibronectin type-III 2. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) GTCCTCCATCCATACATGGAC 0.368000 15 11 0 0 0.008871 0 0 ZNF99 7652 broad.mit.edu 37 19 22940013 22940013 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:22940013G>A ENST00000397104.3 - 6 2317 c.2318C>T c.(2317-2319)cCa>cTa p.P773L 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) ACATTTGTATGGTTTCTTCCC 0.383000 9 18 0 0 0.004482 0 0 SLC17A3 10786 broad.mit.edu 37 6 25851002 25851002 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:25851002G>A ENST00000397060.4 - 7 925 c.816C>T c.(814-816)tcC>tcT p.S272S SLC17A3_ENST00000361703.6_Silent_p.S194S|SLC17A3_ENST00000360657.3_Silent_p.S194S NM_001098486.1 NP_001091956.1 O00476 NPT4_HUMAN solute carrier family 17 (organic anion transporter), member 3 194 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1) 20 GTTTCAAGGAGGATATGATGT 0.403000 13 33 0 0 0.002450 0 0 MGAM 8972 broad.mit.edu 37 7 141755472 141755472 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:141755472G>A ENST00000475668.2 + 28 3483 c.3429G>A c.(3427-3429)agG>agA p.R1143R MGAM_ENST00000549489.2_Silent_p.R1143R O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1143 Glucoamylase. 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) GGTCCTATAGGAGAGACTTGG 0.547000 15 62 0 0 0.002450 0 0 TUB 7275 broad.mit.edu 37 11 8060477 8060477 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:8060477G>A ENST00000305253.4 + 1 298 c.57G>A c.(55-57)ggG>ggA p.G19G TUB_ENST00000534099.1_Intron|RP11-236J17.6_ENST00000526646.1_RNA|RP11-236J17.6_ENST00000528151.1_RNA NM_003320.4 NP_003311.2 P50607 TUB_HUMAN tubby bipartite transcription factor 0 phagocytosis|positive regulation of phagocytosis|response to stimulus cytoplasm|extracellular region|nucleus|plasma membrane breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) CCGAGACAGGGATTTTGTTCC 0.567000 37 67 0 0 0.006230 0 0 PEX5 5830 broad.mit.edu 37 12 7354848 7354848 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:7354848C>T ENST00000266564.3 + 7 671 c.654C>T c.(652-654)ttC>ttT p.F218F PEX5_ENST00000434354.2_Silent_p.F233F|PEX5_ENST00000420616.2_Silent_p.F218F|PEX5_ENST00000412720.2_Silent_p.F239F|PEX5_ENST00000545220.1_3'UTR|PEX5_ENST00000266563.5_Intron|PEX5_ENST00000455147.2_Silent_p.F218F NM_000319.4 NP_000310.2 P50542 PEX5_HUMAN peroxisomal biogenesis factor 5 218 protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport cytosol|peroxisomal matrix|peroxisomal membrane peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1) 21 TCCTGAAATTCGTGCGGCAGA 0.597000 36 20 0 0 0.004289 0 0 MTMR11 10903 broad.mit.edu 37 1 149901598 149901598 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:149901598G>A ENST00000439741.2 - 16 2108 c.1858C>T c.(1858-1860)Cca>Tca p.P620S MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.P548S|MTMR11_ENST00000406732.3_3'UTR NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 620 Myotubularin phosphatase. phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) AGCAGCCCTGGAGGTAAAGGG 0.587000 27 75 0 0 0.004656 0 0 MYO5B 4645 broad.mit.edu 37 18 47421509 47421509 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:47421509G>A ENST00000285039.7 - 22 3146 c.2847C>T c.(2845-2847)tcC>tcT p.S949S MYO5B_ENST00000324581.6_Silent_p.S90S NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 949 protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) AGGTGGTCACGGACAACTGCT 0.517000 16 42 0 0 0.004990 0 0 PCLO 27445 broad.mit.edu 37 7 82763974 82763974 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:82763974C>T ENST00000423517.2 - 3 3229 c.2892G>A c.(2890-2892)atG>atA p.M964I PCLO_ENST00000333891.8_Missense_Mutation_p.M964I NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 910 Pro-rich. 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 GGGCTTGTTTCATTGGGGCCC 0.507000 12 20 0 0 0.006122 0 0 PAWR 5074 broad.mit.edu 37 12 80014943 80014943 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:80014943C>T ENST00000328827.4 - 3 933 c.561G>A c.(559-561)cgG>cgA p.R187R NM_002583.2 NP_002574.2 Q96IZ0 PAWR_HUMAN PRKC, apoptosis, WT1, regulator 187 Selective for apoptosis induction in cancer cells (SAC). actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 CTTCTCGTTTCCGCTCTTTCT 0.363000 19 94 0 0 0.008871 0 0 CDC25A 993 broad.mit.edu 37 3 48207191 48207191 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:48207191G>A ENST00000302506.3 - 12 1534 c.1126C>T c.(1126-1128)Ctc>Ttc p.L376F CDC25A_ENST00000351231.3_Missense_Mutation_p.L336F|CDC25A_ENST00000459900.1_5'UTR NM_001789.2 NP_001780.2 P30304 MPIP1_HUMAN cell division cycle 25A 376 Rhodanese. cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) TCTTTAATGAGGTTGGCAAAC 0.438000 27 57 0 0 0.005443 0 0 TTC39C 125488 broad.mit.edu 37 18 21698134 21698134 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:21698134C>T ENST00000540918.2 + 3 453 c.203C>T c.(202-204)tCc>tTc p.S68F RP11-799B12.2_ENST00000583782.1_RNA|TTC39C_ENST00000317571.3_Missense_Mutation_p.S375F|TTC39C_ENST00000304621.6_Missense_Mutation_p.S314F Q8N584 TT39C_HUMAN tetratricopeptide repeat domain 39C 375 binding breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 19 GCATTTGATTCCTTTGAGAGG 0.453000 7 54 0 0 0.001984 0 0 SORL1 6653 broad.mit.edu 37 11 121414293 121414293 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:121414293C>T ENST00000260197.7 + 13 1851 c.1722C>T c.(1720-1722)ttC>ttT p.F574F SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 574 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GGAAAACATTCATCTTCTCTG 0.468000 8 60 0 0 0.004482 0 0 DMXL1 1657 broad.mit.edu 37 5 118485031 118485031 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:118485031G>A ENST00000311085.8 + 18 3589 c.3509G>A c.(3508-3510)gGc>gAc p.G1170D DMXL1_ENST00000539542.1_Missense_Mutation_p.G1170D NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 1170 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) CCCCTGGCTGGCAAGGTACAA 0.423000 20 45 0 0 0.008871 0 0 UCHL3 7347 broad.mit.edu 37 13 76169099 76169099 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:76169099C>T ENST00000377595.3 + 7 553 c.523C>T c.(523-525)Cat>Tat p.H175Y RP11-29G8.3_ENST00000563635.1_RNA|UCHL3_ENST00000606347.1_3'UTR NM_001270952.1|NM_006002.3 NP_001257881.1|NP_005993.1 P15374 UCHL3_HUMAN ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) 175 ubiquitin-dependent protein catabolic process cytoplasm cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity kidney(1)|large_intestine(2)|lung(3)|skin(1) 7 GBM - Glioblastoma multiforme(99;0.0125) TGCATTAGTTCATGTAGATGG 0.338000 81 131 0 0 0.014410 0 0 CTSV 1515 broad.mit.edu 37 9 99799623 99799623 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:99799623C>T ENST00000259470.5 - 4 556 c.307G>A c.(307-309)Ggg>Agg p.G103R CTSV_ENST00000538255.1_Missense_Mutation_p.G103R|CTSV_ENST00000479932.1_5'UTR NM_001333.3 NP_001324.2 cathepsin V AACACTTTCCCCTTCCTGAAT 0.423000 15 26 0 0 0.004007 0 0 PCDHB5 26167 broad.mit.edu 37 5 140515473 140515473 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140515473C>T ENST00000231134.5 + 1 674 c.457C>T c.(457-459)Ccc>Tcc p.P153S NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 153 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACTGTGTTTCCCTTAAAAAT 0.463000 11 40 0 0 0.008291 0 0 TRBC2 28638 broad.mit.edu 37 7 142499057 142499057 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:142499057G>A ENST00000466254.1 + 0 333 GTGGACCCAGGATAGGGCCAA 0.627000 15 102 0 0 0.004990 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502130 140502130 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140502130C>T ENST00000194152.1 + 1 550 c.550C>T c.(550-552)Cat>Tat p.H184Y NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 184 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CACTCGAAATCATAGTGAGGG 0.473000 10 15 0 0 0.008291 0 0 ZNF528 84436 broad.mit.edu 37 19 52919319 52919319 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:52919319G>A ENST00000360465.3 + 7 1640 c.1214G>A c.(1213-1215)aGa>aAa p.R405K ZNF528_ENST00000391788.2_3'UTR NM_032423.2 NP_115799.2 Q3MIS6 ZN528_HUMAN zinc finger protein 528 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 39 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) ATTCATACTAGAGAGAGACCT 0.403000 19 34 0 0 0.010504 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713754 70713754 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:70713754C>T ENST00000530196.1 - 0 764 NR_003951.1 GCTCCAGAAACCATGCATGAG 0.433000 16 52 0 0 0.007413 0 0 SPINK5 11005 broad.mit.edu 37 5 147480076 147480076 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:147480076G>A ENST00000359874.3 + 13 1225 c.1152G>A c.(1150-1152)gaG>gaA p.E384E SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000398454.1_Silent_p.E384E|SPINK5_ENST00000256084.7_Silent_p.E384E NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 384 Kazal-like 6. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCACCAGAGAGAACGATCCTA 0.488000 15 25 0 0 0.003163 0 0 LGI1 9211 broad.mit.edu 37 10 95556849 95556849 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:95556849C>T ENST00000371418.4 + 8 1223 c.963C>T c.(961-963)atC>atT p.I321I LGI1_ENST00000542308.1_Silent_p.I273I|LGI1_ENST00000371413.3_Intron NM_005097.2 NP_005088.1 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 321 axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) TCATAAAAATCCAGGATATTG 0.363000 5 32 0 0 0.000602 0 0 SYNE2 23224 broad.mit.edu 37 14 64473769 64473769 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:64473769C>T ENST00000358025.3 + 31 4636 c.4406C>T c.(4405-4407)tCa>tTa p.S1469L SYNE2_ENST00000344113.4_Missense_Mutation_p.S1469L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.S1469L NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1469 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) AGGAAAAAATCATTAATCAGA 0.343000 13 91 0 0 0.003163 0 0 COL5A1 1289 broad.mit.edu 37 9 137702112 137702112 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:137702112G>A ENST00000371817.3 + 44 3900 c.3486G>A c.(3484-3486)ggG>ggA p.G1162G NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1162 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GAGAGATCGGGGAGCCGGGGC 0.582000 19 49 0 0 0.002780 0 0 SLC22A7 10864 broad.mit.edu 37 6 43271893 43271893 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:43271893C>T ENST00000372585.5 + 10 1598 c.1503C>T c.(1501-1503)atC>atT p.I501I SLC22A7_ENST00000372589.3_Silent_p.I499I|SLC22A7_ENST00000372574.3_Silent_p.I499I NM_153320.2 NP_696961.2 Q9Y694 S22A7_HUMAN solute carrier family 22 (organic anion transporter), member 7 501 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity p.I501I(1) NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) ATGGGGGGATCGCCCTGCTGG 0.652000 33 78 0 0 0.003755 0 0 MUC6 4588 broad.mit.edu 37 11 1016872 1016872 + Missense_Mutation SNP G G A rs71472140 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:1016872G>A ENST00000421673.2 - 31 5979 c.5929C>T c.(5929-5931)Ccc>Tcc p.P1977S NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1977 Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GAAGAGAAGGGACTGCTCCCT 0.592000 65 1315 0 0 0.008740 0 0 SLC25A21 89874 broad.mit.edu 37 14 37153959 37153959 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:37153959G>A ENST00000331299.5 - 8 1290 c.775C>T c.(775-777)Cag>Tag p.Q259* SLC25A21_ENST00000555449.1_Nonsense_Mutation_p.Q259* NM_030631.3 NP_085134.1 Q9BQT8 ODC_HUMAN solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 259 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) CCTTCTTCCTGATAGACTGTT 0.383000 19 82 0 0 0.007413 0 0 ZNF181 339318 broad.mit.edu 37 19 35231794 35231794 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:35231794C>T ENST00000392232.3 + 6 808 c.640C>T c.(640-642)Ctt>Ttt p.L214F ZNF181_ENST00000492450.1_Missense_Mutation_p.L170F|ZNF181_ENST00000459757.1_Missense_Mutation_p.L169F Q2M3W8 ZN181_HUMAN zinc finger protein 181 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) AAAGTCTACTCTTTCTGAACC 0.333000 10 32 0 0 0.006214 0 0 PDGFRB 5159 broad.mit.edu 37 5 149499604 149499604 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:149499604C>T ENST00000261799.4 - 19 3138 c.2669G>A c.(2668-2670)gGg>gAg p.G890E NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 890 Protein kinase. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GAGCAGGATCCCGAAGGACCA 0.572000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 5 24 0 0 0.000602 0 0 MAATS1 89876 broad.mit.edu 37 3 119427482 119427482 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:119427482C>T ENST00000273390.5 + 4 481 c.404C>T c.(403-405)cCt>cTt p.P135L MAATS1_ENST00000463700.1_Missense_Mutation_p.P135L NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 TATGAAGATCCTGAAGTTACT 0.289000 11 31 0 0 0.002450 0 0 OR10V1 390201 broad.mit.edu 37 11 59481007 59481007 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:59481007G>A ENST00000307552.2 - 1 330 c.312C>T c.(310-312)ttC>ttT p.F104F STX3_ENST00000300150.7_5'UTR NM_001005324.1 NP_001005324.1 Q8NGI7 O10V1_HUMAN olfactory receptor, family 10, subfamily V, member 1 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1) 16 AGAAGACAAAGAAAAACATCT 0.483000 12 25 0 0 0.013537 0 0 RIPK4 54101 broad.mit.edu 37 21 43176852 43176852 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr21:43176852A>T ENST00000352483.2 - 2 371 c.307T>A c.(307-309)Tcc>Acc p.S103T RIPK4_ENST00000332512.3_Missense_Mutation_p.S103T|RIPK4_ENST00000542057.1_Missense_Mutation_p.S40T|RIPK4_ENST00000544709.1_Missense_Mutation_p.S40T Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 103 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 TTTTCCAGGGAGCCCGTCTCC 0.582000 8 18 0 0 0.006214 0 0 ENAH 55740 broad.mit.edu 37 1 225700644 225700644 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:225700644G>A ENST00000366844.2 - 8 1744 c.1293C>T c.(1291-1293)ggC>ggT p.G431G ENAH_ENST00000284563.6_Silent_p.G678G|ENAH_ENST00000366843.2_Silent_p.G431G NM_001008493.1 NP_001008493.1 Q8N8S7 ENAH_HUMAN enabled homolog (Drosophila) 431 EVH2. axon guidance|intracellular transport|T cell receptor signaling pathway cytosol|filopodium|focal adhesion|lamellipodium|synapse actin binding|SH3 domain binding|WW domain binding NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.19) CATTTCCACGGCCTGTATCTG 0.453000 33 77 0 0 0.003271 0 0 CCDC105 126402 broad.mit.edu 37 19 15132205 15132205 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:15132205C>T ENST00000292574.3 + 4 997 c.915C>T c.(913-915)gtC>gtT p.V305V NM_173482.2 NP_775753.2 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 305 microtubule cytoskeleton organization microtubule NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 GGTTGTTGGTCGAGTCCAAGG 0.612000 8 21 0 0 0.003080 0 0 OR51B6 390058 broad.mit.edu 37 11 5372791 5372791 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:5372791G>A ENST00000380219.1 + 1 54 c.54G>A c.(52-54)atG>atA p.M18I HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_001004750.1 NP_001004750.1 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, member 6 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 21 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCCCAGGCATGGAGAAGGCAC 0.453000 11 25 0 0 0.001855 0 0 NPHP3 27031 broad.mit.edu 37 3 132409388 132409388 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:132409388G>A ENST00000337331.5 - 19 2763 c.2677C>T c.(2677-2679)Caa>Taa p.Q893* NPHP3_ENST00000326682.8_3'UTR NM_153240.4 NP_694972.3 Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 893 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TAAAGGTTTTGAGACACAAAG 0.358000 13 27 0 0 0.003163 0 0 TTN 7273 broad.mit.edu 37 2 179477893 179477893 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179477893G>A ENST00000589042.1 - 264 49867 c.49643C>T c.(49642-49644)cCc>cTc p.P16548L TTN_ENST00000460472.2_Missense_Mutation_p.P7483L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P7608L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P13980L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P7675L|TTN_ENST00000591111.1_Missense_Mutation_p.P14907L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14907 Fibronectin type-III 20. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATACCTATGGGATCCTTTAT 0.343000 5 21 0 0 0.000602 0 0 TTC40 54777 broad.mit.edu 37 10 134647602 134647602 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:134647602C>T ENST00000368586.5 - 49 6992 c.6892G>A c.(6892-6894)Gat>Aat p.D2298N TTC40_ENST00000263170.5_Missense_Mutation_p.D459N NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 459 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 TTCCCTGAATCGGCAACAACC 0.522000 16 58 0 0 0.004990 0 0 THBS1 7057 broad.mit.edu 37 15 39885651 39885651 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:39885651G>A ENST00000260356.5 + 19 3214 c.3049G>A c.(3049-3051)Gaa>Aaa p.E1017K NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 1017 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) CATCAACACCGAAAGGGACGA 0.493000 57 125 0 0 0.014410 0 0 GGT1 2678 broad.mit.edu 37 22 25010854 25010854 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:25010854C>T ENST00000400382.1 + 6 1031 c.276C>T c.(274-276)acC>acT p.T92T GGT1_ENST00000248923.4_Silent_p.T92T|GGT1_ENST00000406383.2_Silent_p.T92T|GGT1_ENST00000400380.1_Silent_p.T92T|GGT1_ENST00000400383.1_Silent_p.T92T P19440 GGT1_HUMAN gamma-glutamyltransferase 1 92 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) TCTTCCTCACCATCTACAACA 0.657000 12 43 0 0 0.002450 0 0 DLGAP1 9229 broad.mit.edu 37 18 3879862 3879862 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:3879862G>A ENST00000315677.3 - 4 802 c.207C>T c.(205-207)acC>acT p.T69T DLGAP1_ENST00000584874.1_Silent_p.T69T|DLGAP1_ENST00000581527.1_Silent_p.T69T|DLGAP1_ENST00000515196.2_Silent_p.T69T|DLGAP1-AS3_ENST00000577649.1_RNA NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 69 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) TGCGGGGGAAGGTGCTGCTGG 0.677000 11 53 0 0 0.008291 0 0 CASC4 113201 broad.mit.edu 37 15 44705554 44705554 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:44705554C>T ENST00000299957.6 + 10 1560 c.1261C>T c.(1261-1263)Caa>Taa p.Q421* RP11-516C1.1_ENST00000558047.1_RNA|CASC4_ENST00000360824.3_3'UTR|CASC4_ENST00000345795.2_Nonsense_Mutation_p.Q365* NM_138423.3 NP_612432.2 Q6P4E1 CASC4_HUMAN cancer susceptibility candidate 4 196 integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2) 17 all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027) all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237) ACGAGAGCTTCAAATGGATCC 0.308000 5 12 0 0 0.001168 0 0 CECR2 27443 broad.mit.edu 37 22 18020357 18020357 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:18020357C>T ENST00000262608.8 + 13 1689 c.1689C>T c.(1687-1689)ccC>ccT p.P563P CECR2_ENST00000400585.2_Silent_p.P421P|CECR2_ENST00000400573.4_Silent_p.P562P NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 604 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) GCCGAGCGCCCTCTTCTGGGG 0.627000 16 38 0 0 0.008871 0 0 DNAH8 1769 broad.mit.edu 37 6 38690664 38690664 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:38690664C>T ENST00000449981.2 + 2 188 c.79C>T c.(79-81)Cgt>Tgt p.R27C 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 TGCCCCTCCCCGTTCAGAAGA 0.612000 7 13 0 0 0.001984 0 0 DNAH1 25981 broad.mit.edu 37 3 52398945 52398945 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:52398945C>T ENST00000420323.2 + 34 5689 c.5428C>T c.(5428-5430)Ccc>Tcc p.P1810S NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1810 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CGACCTGTTTCCCACCATCAA 0.607000 29 34 0 0 0.007291 0 0 EYA4 2070 broad.mit.edu 37 6 133802624 133802624 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:133802624C>T ENST00000367895.5 + 12 1458 c.994C>T c.(994-996)Ccc>Tcc p.P332S EYA4_ENST00000355286.6_Missense_Mutation_p.P309S|EYA4_ENST00000531901.1_Missense_Mutation_p.P338S|EYA4_ENST00000430974.2_Missense_Mutation_p.P284S|EYA4_ENST00000431403.2_Missense_Mutation_p.P332S|EYA4_ENST00000452339.2_Missense_Mutation_p.P278S|EYA4_ENST00000355167.3_Missense_Mutation_p.P332S|EYA4_ENST00000525849.1_Missense_Mutation_p.P309S NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 332 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) CATGCAGAGTCCCTCCACACC 0.423000 43 74 0 0 0.014410 0 0 ENTPD2 954 broad.mit.edu 37 9 139945719 139945719 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:139945719C>T ENST00000355097.2 - 4 537 c.490G>A c.(490-492)Gaa>Aaa p.E164K ENTPD2_ENST00000312665.5_Missense_Mutation_p.E164K NM_001246.3|NM_203468.2 NP_001237.1|NP_982293.1 Q9Y5L3 ENTP2_HUMAN ectonucleoside triphosphate diphosphohydrolase 2 164 integral to membrane ATP binding endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3) 12 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) ACCCCCTCTTCCTGGCCCGAG 0.627000 18 64 0 0 0.014323 0 0 APOBEC3D 140564 broad.mit.edu 37 22 39421083 39421083 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:39421083C>T ENST00000216099.7 + 3 626 c.219C>T c.(217-219)ttC>ttT p.F73F APOBEC3D_ENST00000381568.4_Silent_p.F73F|APOBEC3D_ENST00000427494.2_Intron NM_152426.3 NP_689639.2 Q96AK3 ABC3D_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D 73 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2) 11 Melanoma(58;0.04) AGGTGTATTTCCGGTTTGAGA 0.602000 6 15 0 0 0.001168 0 0 GRIA3 2892 broad.mit.edu 37 X 122561843 122561843 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:122561843C>T ENST00000264357.5 + 12 2221 c.1929C>T c.(1927-1929)atC>atT p.I643I GRIA3_ENST00000371251.1_Silent_p.I643I|GRIA3_ENST00000542149.1_Silent_p.I643I|GRIA3_ENST00000371256.5_Silent_p.I643I NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 643 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) TCACCCTGATCATAATTTCTT 0.453000 49 27 0 0 0.014410 0 0 ANK1 286 broad.mit.edu 37 8 41552776 41552776 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:41552776C>T ENST00000396942.1 - 27 3117 c.3034G>A c.(3034-3036)Gaa>Aaa p.E1012K ANK1_ENST00000352337.4_Missense_Mutation_p.E1012K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1012K|ANK1_ENST00000347528.4_Missense_Mutation_p.E1012K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1012K|ANK1_ENST00000265709.8_Missense_Mutation_p.E1053K|ANK1_ENST00000396945.1_Missense_Mutation_p.E1012K P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1012 ZU5. 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) GAGCCGTTTTCGCTCCTCAGA 0.617000 41 71 0 0 0.009718 0 0 LVRN 206338 broad.mit.edu 37 5 115346571 115346571 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:115346571G>A ENST00000357872.4 + 14 2351 c.2227G>A c.(2227-2229)Gat>Aat p.D743N NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 743 proteolysis integral to membrane metallopeptidase activity|zinc ion binding GAACATCTATGATATATACTC 0.323000 4 30 0 0 0.009096 0 0 KIAA1244 57221 broad.mit.edu 37 6 138584494 138584494 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:138584494C>T ENST00000251691.4 + 12 2040 c.1874C>T c.(1873-1875)tCc>tTc p.S625F NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 625 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) TCGGGCAGGTCCGACGTGTCA 0.547000 49 104 0 0 0.014410 0 0 CROCC 9696 broad.mit.edu 37 1 17277559 17277559 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:17277559C>T ENST00000375541.5 + 20 3017 c.2948C>T c.(2947-2949)tCt>tTt p.S983F CROCC_ENST00000467938.1_Intron NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 983 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GCCCAGGCCTCTCTGCGGGAG 0.622000 10 16 0 0 0.008291 0 0 ATRN 8455 broad.mit.edu 37 20 3577041 3577041 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:3577041G>A ENST00000262919.5 + 21 3502 c.3434G>A c.(3433-3435)cGa>cAa p.R1145Q ATRN_ENST00000446916.2_Missense_Mutation_p.R1145Q NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 1145 Laminin EGF-like 2. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 GTAGAAAATCGATACCAAGGA 0.318000 21 38 0 0 0.003330 0 0 MYO18B 84700 broad.mit.edu 37 22 26423569 26423569 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:26423569C>T ENST00000335473.7 + 43 7879 c.7629C>T c.(7627-7629)ccC>ccT p.P2543P MYO18B_ENST00000536101.1_Silent_p.P2543P|MYO18B_ENST00000407587.2_Silent_p.P2544P NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2543 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GAACGTCCCCCGAGCGGAGAG 0.552000 11 18 0 0 0.013537 0 0 MB21D2 151963 broad.mit.edu 37 3 192517368 192517368 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:192517368C>T ENST00000392452.2 - 2 603 c.283G>A c.(283-285)Gaa>Aaa p.E95K NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 95 endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 ACCACGCCTTCCCGGACACCT 0.483000 15 19 0 0 0.004990 0 0 TCL1B 9623 broad.mit.edu 37 14 96152912 96152912 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:96152912C>T ENST00000340722.7 + 1 159 c.108C>T c.(106-108)gtC>gtT p.V36V RP11-1070N10.6_ENST00000461160.1_RNA NM_004918.3 NP_004909.1 O95988 TCL1B_HUMAN T-cell leukemia/lymphoma 1B 36 cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) TGACTGTGGTCGTGCGGTTCA 0.657000 18 26 0 0 0.006122 0 0 COG2 22796 broad.mit.edu 37 1 230807342 230807342 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:230807342C>T ENST00000534989.1 + 8 1013 c.678C>T c.(676-678)caC>caT p.H226H COG2_ENST00000535166.1_Silent_p.H169H|COG2_ENST00000494371.1_3'UTR|COG2_ENST00000366669.4_Silent_p.H285H|COG2_ENST00000366668.3_Silent_p.H285H Q14746 COG2_HUMAN component of oligomeric golgi complex 2 285 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3) 27 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) TTGTTCCTCACCATTGCCGCC 0.453000 34 65 0 0 0.003271 0 0 CLDN14 23562 broad.mit.edu 37 21 37833570 37833570 + Missense_Mutation SNP C C T rs146755542 by1000genomes TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr21:37833570C>T ENST00000399137.1 - 3 1290 c.424G>A c.(424-426)Gac>Aac p.D142N CLDN14_ENST00000342108.2_Missense_Mutation_p.D142N|CLDN14_ENST00000399135.1_Missense_Mutation_p.D142N|AP000695.6_ENST00000429588.1_RNA|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399139.1_Missense_Mutation_p.D142N|CLDN14_ENST00000399136.1_Missense_Mutation_p.D142N NM_144492.2 NP_652763.1 O95500 CLD14_HUMAN claudin 14 142 calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|lung(5)|skin(1) 7 TGCACCACGTCGTTGGTGGTC 0.627000 11 52 0 0 0.008291 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33616128 33616128 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:33616128C>T ENST00000504830.1 - 15 2528 c.2193G>A c.(2191-2193)gtG>gtA p.V731V ADAMTS12_ENST00000352040.3_Silent_p.V646V|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 731 Spacer 1. 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 CAATTTCCATCACTCTTATGT 0.448000 HNSCC(64;0.19) 9 32 0 0 0.006214 0 0 MNDA 4332 broad.mit.edu 37 1 158815497 158815497 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:158815497G>A ENST00000368141.4 + 5 952 c.691G>A c.(691-693)Ggg>Agg p.G231R NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 231 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) CCCAGAAAATGGGAAAAGCAC 0.428000 19 25 0 0 0.007413 0 0 SEC16B 89866 broad.mit.edu 37 1 177930758 177930758 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:177930758G>A ENST00000308284.6 - 6 843 c.754C>T c.(754-756)Cca>Tca p.P252S RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.P252S|RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.P252S NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 252 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 GCTGAAGCTGGGGGATCATCC 0.537000 10 33 0 0 0.008291 0 0 MYH2 4620 broad.mit.edu 37 17 10432014 10432014 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:10432014T>C ENST00000245503.5 - 27 4121 c.3737A>G c.(3736-3738)aAa>aGa p.K1246R CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.K1246R|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1246 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TACCTTGGCTTTGGAGACCGT 0.398000 13 59 0 0 0.004007 0 0 FLNA 2316 broad.mit.edu 37 X 153581488 153581488 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:153581488G>A ENST00000422373.1 - 37 6331 c.6083C>T c.(6082-6084)cCg>cTg p.P2028L FLNA_ENST00000344736.4_Missense_Mutation_p.P1996L|FLNA_ENST00000369856.3_Missense_Mutation_p.P169L|FLNA_ENST00000369850.3_Missense_Mutation_p.P2036L|FLNA_ENST00000360319.4_Missense_Mutation_p.P2028L NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 2036 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GATCACCACCGGGATGGGGCT 0.587000 24 8 0 0 0.003330 0 0 CABYR 26256 broad.mit.edu 37 18 21736228 21736228 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:21736228G>A ENST00000399481.2 + 2 621 c.469G>A c.(469-471)Gaa>Aaa p.E157K CABYR_ENST00000327201.6_Intron|CABYR_ENST00000399499.1_Intron|CABYR_ENST00000415309.2_Intron|CABYR_ENST00000399496.3_Intron|CABYR_ENST00000581397.1_Intron O75952 CABYR_HUMAN calcium binding tyrosine-(Y)-phosphorylation regulated 255 ciliary or flagellar motility|signal transduction|sperm capacitation cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding breast(1)|endometrium(2)|large_intestine(4)|lung(4) 11 all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17) AAATGAGGCTGAACCATCAAC 0.463000 8 16 0 0 0.003080 0 0 NOMO1 23420 broad.mit.edu 37 16 14968912 14968912 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:14968912C>T ENST00000287667.7 + 19 2245 c.2074C>T c.(2074-2076)Ccc>Tcc p.P692S NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 692 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 CGACAGTGAACCCGCCTTGGT 0.557000 27 49 0 0 0.008361 0 0 ALPPL2 251 broad.mit.edu 37 2 233272049 233272049 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:233272049G>A ENST00000295453.3 + 3 290 c.238G>A c.(238-240)Gac>Aac p.D80N NM_031313.2 NP_112603.2 P10696 PPBN_HUMAN alkaline phosphatase, placental-like 2 80 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1) 13 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) GCAGAAGAAGGACAAACTGGG 0.587000 4 43 0 0 0.000602 0 0 FAM83B 222584 broad.mit.edu 37 6 54805315 54805315 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:54805315T>C ENST00000306858.7 + 5 1662 c.1546T>C c.(1546-1548)Tta>Cta p.L516L NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 516 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TGGATCAGCTTTAGGTGACCG 0.408000 8 43 0 0 0.003080 0 0 NPAP1 23742 broad.mit.edu 37 15 24924049 24924049 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:24924049G>A ENST00000329468.2 + 1 3509 c.3035G>A c.(3034-3036)gGa>gAa p.G1012E NM_018958.2 NP_061831.2 nuclear pore associated protein 1 ATGGGACCTGGAACCCCTATG 0.517000 11 26 0 0 0.010729 0 0 COL21A1 81578 broad.mit.edu 37 6 55929417 55929417 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:55929417G>A ENST00000244728.5 - 24 2528 c.2131C>T c.(2131-2133)Caa>Taa p.Q711* COL21A1_ENST00000370819.1_Nonsense_Mutation_p.Q708*|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Nonsense_Mutation_p.Q111*|COL21A1_ENST00000535941.1_Nonsense_Mutation_p.Q711* NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 711 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) TCTCCCTTTTGACCCTTTAAA 0.323000 4 8 0 0 0.000602 0 0 LPAR4 2846 broad.mit.edu 37 X 78011171 78011171 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:78011171C>T ENST00000435339.2 + 2 1210 c.805C>T c.(805-807)Ctc>Ttc p.L269F LPAR4_ENST00000373301.2_Missense_Mutation_p.L269F NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 269 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 CAACTCTGTCCTCTTCTTGTA 0.408000 13 10 0 0 0.013537 0 0 ABCB5 340273 broad.mit.edu 37 7 20721209 20721209 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:20721209G>A ENST00000404938.2 + 15 2441 c.1789G>A c.(1789-1791)Gat>Aat p.D597N ABCB5_ENST00000258738.6_Missense_Mutation_p.D152N NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 152 ABC transporter 2. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GACCCTAAAGGATGGAATGCT 0.423000 8 40 0 0 0.004482 0 0 ACOXL 55289 broad.mit.edu 37 2 111551742 111551742 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:111551742C>T ENST00000389811.4 + 5 560 c.336C>T c.(334-336)ctC>ctT p.L112L ACOXL_ENST00000340561.4_Silent_p.L112L|ACOXL_ENST00000439055.1_Silent_p.L112L Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like 112 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity p.L112L(3) kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 CCTTTGACCTCTCTGCCCAGG 0.552000 9 24 0 0 0.006214 0 0 TNFRSF10D 8793 broad.mit.edu 37 8 23003353 23003353 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:23003353G>A ENST00000312584.3 - 5 658 c.564C>T c.(562-564)tcC>tcT p.S188S NM_003840.4 NP_003831.2 Q9UBN6 TR10D_HUMAN tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain 188 anti-apoptosis|apoptosis integral to membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) TTTTCCCAGTGGAACTGGCAG 0.517000 10 60 0 0 0.008291 0 0 C1orf173 127254 broad.mit.edu 37 1 75072435 75072435 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:75072435C>T ENST00000326665.5 - 10 1557 c.1339G>A c.(1339-1341)Gag>Aag p.E447K RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.E250K NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 447 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GTTTTGTTCTCCTTGATCTCA 0.403000 47 88 0 0 0.014410 0 0 OGFRL1 79627 broad.mit.edu 37 6 72011334 72011334 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:72011334G>A ENST00000370435.4 + 7 1072 c.938G>A c.(937-939)gGa>gAa p.G313E RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA NM_024576.3 NP_078852.3 Q5TC84 OGRL1_HUMAN opioid growth factor receptor-like 1 313 membrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1) 13 TTTATCTGGGGACCGCCTCGA 0.463000 13 33 0 0 0.001855 0 0 SLC35G5 83650 broad.mit.edu 37 8 11188688 11188688 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:11188688C>T ENST00000382435.4 + 1 292 c.73C>T c.(73-75)Ctc>Ttc p.L25F NM_054028.1 NP_473369.1 Q96KT7 AMCL2_HUMAN solute carrier family 35, member G5 25 integral to membrane p.L25F(1) TCCACCCAGCCTCCGCTGGCA 0.667000 13 53 0 0 0.001855 0 0 GALNT13 114805 broad.mit.edu 37 2 155265588 155265588 + Silent SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:155265588A>T ENST00000392825.3 + 11 1956 c.1389A>T c.(1387-1389)ggA>ggT p.G463G GALNT13_ENST00000409237.1_Silent_p.G463G|GALNT13_ENST00000487047.1_3'UTR NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 463 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 GTATGGGAGGAAATCAGGTAA 0.358000 13 55 0 0 0.003163 0 0 DOCK2 1794 broad.mit.edu 37 5 169461457 169461457 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:169461457C>T ENST00000256935.8 + 35 3602 c.3522C>T c.(3520-3522)ttC>ttT p.F1174F DOCK2_ENST00000520908.1_Silent_p.F666F|DOCK2_ENST00000540750.1_Silent_p.F235F|DOCK2_ENST00000523351.1_3'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1174 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding p.F1174F(1) NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGGAGAACTTCGTGAACCTGG 0.572000 13 32 0 0 0.013537 0 0 CYFIP2 26999 broad.mit.edu 37 5 156787375 156787375 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:156787375C>T ENST00000347377.6 + 25 3334 c.2903C>T c.(2902-2904)tCc>tTc p.S968F CYFIP2_ENST00000541131.1_Missense_Mutation_p.S893F|CYFIP2_ENST00000522463.1_Missense_Mutation_p.S772F|CYFIP2_ENST00000318218.6_Missense_Mutation_p.S993F|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000377576.3_Missense_Mutation_p.S968F|CYFIP2_ENST00000435847.2_Missense_Mutation_p.S667F|CYFIP2_ENST00000521420.1_Missense_Mutation_p.S942F NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 993 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) GAGTATGGCTCCCCAGGTTGG 0.517000 47 136 0 0 0.014410 0 0 NOP9 161424 broad.mit.edu 37 14 24771528 24771528 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:24771528C>T ENST00000267425.3 + 5 1134 c.1041C>T c.(1039-1041)ctC>ctT p.L347L NOP9_ENST00000396802.3_Silent_p.L347L NM_174913.1 NP_777573.1 NOP9 nucleolar protein TCCAGAGCCTCTTTGAGGAGC 0.577000 27 86 0 0 0.004656 0 0 PZP 5858 broad.mit.edu 37 12 9303255 9303255 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:9303255C>T ENST00000261336.2 - 34 4397 c.4369G>A c.(4369-4371)Gat>Aat p.D1457N PZP_ENST00000381997.2_Missense_Mutation_p.D1243N NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 TCATAGTAATCATAGACTTTA 0.403000 20 20 0 0 0.012319 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806870 97806870 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:97806870C>T ENST00000358642.2 + 1 854 c.854C>T c.(853-855)cCc>cTc p.P285L NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, member 2 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 ATTATAATTCCCCTGCTAAAC 0.373000 8 28 0 0 0.003080 0 0 REM2 161253 broad.mit.edu 37 14 23354209 23354209 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:23354209G>A ENST00000267396.4 + 2 553 c.430G>A c.(430-432)Gaa>Aaa p.E144K REM2_ENST00000536884.1_Missense_Mutation_p.E144K NM_173527.2 NP_775798.2 Q8IYK8 REM2_HUMAN RAS (RAD and GEM)-like GTP binding 2 144 regulation of transcription, DNA-dependent|small GTPase mediated signal transduction intracellular|plasma membrane ATP binding|GTP binding|transcription factor binding breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1) 5 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.012) CAGTGCTCACGAACCGGAGAA 0.612000 17 18 0 0 0.004007 0 0 TAF4 6874 broad.mit.edu 37 20 60589718 60589718 + Missense_Mutation SNP G G C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:60589718G>C ENST00000252996.3 - 2 1405 c.1406C>G c.(1405-1407)cCt>cGt p.P469R NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa 469 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) GGCCTGCTGAGGAATCATTAA 0.627000 16 40 0 0 0.004990 0 0 HECW2 57520 broad.mit.edu 37 2 197182092 197182092 + Splice_Site SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:197182092A>G ENST00000260983.2 - 10 2522 c.2338_splice c.e10-1 p.G780_splice HECW2_ENST00000409111.1_Splice_Site_p.G424_splice NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 780 Interaction with TP73. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 TGGCTTGAGAACCTAGGATTA 0.473000 4 7 0 0 0.009096 0 0 ZAN 7455 broad.mit.edu 37 7 100348838 100348838 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:100348838G>A ENST00000542585.1 + 0 1703 ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_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) AAGCAACACGGCCTCTGTGGT 0.522000 10 14 0 0 0.013537 0 0 TTN 7273 broad.mit.edu 37 2 179587620 179587620 + Missense_Mutation SNP C C G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179587620C>G ENST00000589042.1 - 76 22230 c.22006G>C c.(22006-22008)Gtt>Ctt p.V7336L TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V6092L|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V7019L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7019 Ig-like 55. 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) GAATCTCCAACTGCTGCCTCC 0.418000 8 11 0 0 0.003080 0 0 ARMC4 55130 broad.mit.edu 37 10 28283909 28283909 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:28283909C>T ENST00000305242.5 - 2 255 c.163G>A c.(163-165)Gaa>Aaa p.E55K NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 55 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 TCAAGTGGTTCCACAAAAACA 0.378000 4 14 0 0 0.009096 0 0 ASB13 79754 broad.mit.edu 37 10 5690986 5690986 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:5690986T>A ENST00000357700.6 - 4 490 c.464A>T c.(463-465)cAc>cTc p.H155L ASB13_ENST00000479033.1_5'UTR NM_024701.3 NP_078977.2 Q8WXK3 ASB13_HUMAN ankyrin repeat and SOCS box containing 13 155 intracellular signal transduction protein binding NS(1)|endometrium(3)|lung(3)|ovary(1) 8 GBM - Glioblastoma multiforme(2;9.59e-09) ACAGGCAACGTGCAGAGGGGT 0.537000 17 52 0 0 0.004990 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48916900 48916900 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:48916900G>A ENST00000311378.4 + 2 779 c.251G>A c.(250-252)gGg>gAg p.G84E WFIKKN2_ENST00000426127.1_5'UTR NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 84 WAP. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) AACGTATGTGGGACCAAGAGC 0.582000 17 12 0 0 0.007413 0 0 ADAM28 10863 broad.mit.edu 37 8 24167449 24167449 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:24167449G>A ENST00000265769.4 + 3 303 c.193G>A c.(193-195)Gga>Aga p.G65R RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.G65R|ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000519689.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 65 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) GACAATTAATGGAAAAATTGC 0.294000 10 60 0 0 0.013537 0 0 DSCAML1 57453 broad.mit.edu 37 11 117301631 117301631 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:117301631G>A ENST00000321322.6 - 32 5674 c.5673C>T c.(5671-5673)atC>atT p.I1891I DSCAML1_ENST00000527706.1_Silent_p.I1621I NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1831 axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AGCACTCGGTGATCTCAAACT 0.582000 18 117 0 0 0.006122 0 0 LILRB1 10859 broad.mit.edu 37 19 55146120 55146120 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:55146120C>T ENST00000396331.1 + 11 1746 c.1389C>T c.(1387-1389)atC>atT p.I463I LILRB1_ENST00000396321.2_Silent_p.I463I|LILRB1_ENST00000418536.2_Silent_p.I447I|LILRB1_ENST00000396315.1_Silent_p.I464I|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396317.1_Silent_p.I447I|LILRB1_ENST00000448689.1_Silent_p.I463I|LILRB1_ENST00000396327.3_Silent_p.I464I|LILRB1_ENST00000324602.7_Silent_p.I464I|LILRB1_ENST00000434867.2_Silent_p.I463I|LILRB1_ENST00000427581.2_Silent_p.I513I|LILRB1_ENST00000396332.4_Silent_p.I463I NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 463 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity p.I463I(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) GGGTTGTGATCGGCATCTTGG 0.567000 HNSCC(37;0.09) 5 21 0 0 0.000602 0 0 CCDC87 55231 broad.mit.edu 37 11 66358663 66358663 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:66358663G>A ENST00000333861.3 - 1 1891 c.1824C>T c.(1822-1824)ttC>ttT p.F608F NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 608 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 TGACATGAAGGAAATCTGTTT 0.483000 26 59 0 0 0.003954 0 0 EPHA8 2046 broad.mit.edu 37 1 22913001 22913001 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:22913001C>T ENST00000166244.3 + 4 924 c.852C>T c.(850-852)gcC>gcT p.A284A EPHA8_ENST00000374644.4_Silent_p.A284A|EPHA8_ENST00000538803.1_Silent_p.A284A NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 284 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) ACAAGTCAGCCCCTGGGGACC 0.677000 17 34 0 0 0.006122 0 0 PXDN 7837 broad.mit.edu 37 2 1670155 1670155 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:1670155G>A ENST00000252804.4 - 10 1172 c.1122C>T c.(1120-1122)tcC>tcT p.S374S PXDN_ENST00000483018.1_5'UTR NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 374 Ig-like C2-type 2. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CTCTCGTCCAGGAGATCCGCG 0.622000 8 23 0 0 0.006214 0 0 DUSP7 1849 broad.mit.edu 37 3 52088020 52088020 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:52088020G>A ENST00000495880.1 - 2 1071 c.888C>T c.(886-888)atC>atT p.I296I DUSP7_ENST00000296483.6_Silent_p.I245I Q16829 DUS7_HUMAN dual specificity phosphatase 7 296 inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 17 BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CAGAGATGGGGATCTGCTTGT 0.577000 27 58 0 0 0.004656 0 0 MROH7 374977 broad.mit.edu 37 1 55174728 55174728 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:55174728C>T ENST00000414150.2 + 23 3987 c.3709C>T c.(3709-3711)Cgt>Tgt p.R1237C MROH7_ENST00000409996.1_Missense_Mutation_p.R805C|MROH7_ENST00000454855.2_Missense_Mutation_p.R755C|MROH7_ENST00000421030.2_Missense_Mutation_p.R1237C maestro heat-like repeat family member 7 GACAGAAGATCGTCTGAATGA 0.517000 30 76 0 0 0.012213 0 0 DACH2 117154 broad.mit.edu 37 X 85403980 85403980 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:85403980C>T ENST00000373131.1 + 1 519 c.356C>T c.(355-357)tCc>tTc p.S119F DACH2_ENST00000373125.4_Missense_Mutation_p.S119F NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 119 DACHbox-N. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 CTGGATATATCCCCCGTGGTG 0.562000 15 12 0 0 0.004007 0 0 OR6B1 135946 broad.mit.edu 37 7 143701353 143701353 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:143701353G>A ENST00000408922.2 + 1 332 c.264G>A c.(262-264)gtG>gtA p.V88V NM_001005281.1 NP_001005281.1 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, member 1 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) TTTGGTCTGTGAACAACAGCA 0.468000 19 88 0 0 0.010504 0 0 FRMPD1 22844 broad.mit.edu 37 9 37692689 37692689 + Silent SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:37692689A>C ENST00000539465.1 + 2 644 c.51A>C c.(49-51)atA>atC p.I17I RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.I17I Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 17 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) CACATAGAATAGAACAAATGG 0.473000 26 59 0 0 0.004656 0 0 CSF1R 1436 broad.mit.edu 37 5 149449566 149449566 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:149449566C>T ENST00000286301.3 - 10 1671 c.1380G>A c.(1378-1380)caG>caA p.Q460Q NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 460 Ig-like C2-type 5. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) GGAAGGGCTCCTGGCTCAGGA 0.587000 11 27 0 0 0.010729 0 0 TTN 7273 broad.mit.edu 37 2 179464302 179464302 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179464302C>T ENST00000589042.1 - 289 56550 c.56326G>A c.(56326-56328)Gag>Aag p.E18776K TTN_ENST00000460472.2_Missense_Mutation_p.E9711K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E9836K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E16208K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E9903K|TTN_ENST00000591111.1_Missense_Mutation_p.E17135K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17135 Fibronectin type-III 36. 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) AGTCTCATCTCCTTTGATGCT 0.383000 58 181 0 0 0.014410 0 0 DNAH8 1769 broad.mit.edu 37 6 38890955 38890955 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:38890955T>A ENST00000359357.3 + 70 10387 c.10133T>A c.(10132-10134)aTt>aAt p.I3378N DNAH8_ENST00000441566.1_Missense_Mutation_p.I3342N|RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.I3595N 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 AAAGCTCAGATTAATAGGTGG 0.438000 7 21 0 0 0.004482 0 0 LPHN2 23266 broad.mit.edu 37 1 82456238 82456238 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:82456238C>T ENST00000370728.1 + 25 4434 c.3789C>T c.(3787-3789)atC>atT p.I1263I LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000394879.1_Silent_p.I1265I|LPHN2_ENST00000359929.3_Silent_p.I1207I|LPHN2_ENST00000370725.1_Silent_p.I1278I|LPHN2_ENST00000370721.1_Silent_p.I1188I|LPHN2_ENST00000319517.6_Silent_p.I1207I|LPHN2_ENST00000370730.1_Silent_p.I1220I|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000335786.5_Silent_p.I1220I|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370717.2_Silent_p.I1278I|LPHN2_ENST00000370723.1_Silent_p.I1265I|LPHN2_ENST00000271029.4_Silent_p.I1235I|LPHN2_ENST00000370727.1_Silent_p.I1235I O95490 LPHN2_HUMAN latrophilin 2 1263 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AGAAAATGATCATTTCAGAAT 0.463000 12 26 0 0 0.013537 0 0 OR5D16 390144 broad.mit.edu 37 11 55606305 55606305 + Missense_Mutation SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:55606305A>C ENST00000378396.1 + 1 78 c.78A>C c.(76-78)caA>caC p.Q26H NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) TGGAACTGCAAATTCCCCTCT 0.433000 37 47 0 0 0.005524 0 0 SIK1 150094 broad.mit.edu 37 21 44836679 44836679 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr21:44836679G>A ENST00000270162.6 - 14 2427 c.2295C>T c.(2293-2295)gaC>gaT p.D765D NM_173354.3 NP_775490.2 P57059 SIK1_HUMAN salt-inducible kinase 1 765 anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 CCATCTCACAGTCCCCCTGCA 0.672000 9 5 0 0 0.004482 0 0 FANCA 2175 broad.mit.edu 37 16 89858885 89858885 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:89858885G>A ENST00000389301.3 - 12 1107 c.1077C>T c.(1075-1077)taC>taT p.Y359Y FANCA_ENST00000568369.1_Silent_p.Y359Y NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 359 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) TCACCCTGCGGTACAGTGAGG 0.547000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 11 41 0 0 0.008291 0 0 MYO9A 4649 broad.mit.edu 37 15 72122637 72122637 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:72122637G>A ENST00000356056.5 - 40 7325 c.6853C>T c.(6853-6855)Cgt>Tgt p.R2285C MYO9A_ENST00000424560.1_Missense_Mutation_p.R2356C|MYO9A_ENST00000564571.1_Missense_Mutation_p.R2285C|MYO9A_ENST00000444904.1_Missense_Mutation_p.R2266C NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 2285 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity p.R2285C(2) NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TTTCCTCGACGAATACGCCCC 0.443000 14 20 0 0 0.003163 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84608517 84608517 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:84608517C>T ENST00000344803.2 + 4 3179 c.3132C>T c.(3130-3132)ccC>ccT p.P1044P NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 GCTCATTCCCCATCCTCGGTC 0.428000 55 128 0 0 0.014410 0 0 STEAP4 79689 broad.mit.edu 37 7 87912132 87912132 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:87912132G>A ENST00000380079.4 - 3 909 c.808C>T c.(808-810)Ctg>Ttg p.L270L AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Intron|STEAP4_ENST00000414498.1_Silent_p.L270L|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000595121.1_RNA NM_001205315.1|NM_024636.3 NP_001192244.1|NP_078912.2 Q687X5 STEA4_HUMAN STEAP family member 4 270 Ferric oxidoreductase. fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) CCTCGGTACAGTTGTAGAATG 0.473000 7 40 0 0 0.003080 0 0 KCNC1 3746 broad.mit.edu 37 11 17757825 17757825 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:17757825C>T ENST00000379472.3 + 1 306 c.276C>T c.(274-276)gcC>gcT p.A92A KCNC1_ENST00000265969.6_Silent_p.A92A NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 92 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 AGGAGCTGGCCTTCTGGGGCA 0.692000 19 36 0 0 0.014323 0 0 MUC17 140453 broad.mit.edu 37 7 100686280 100686280 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:100686280C>T ENST00000306151.4 + 3 11647 c.11583C>T c.(11581-11583)gtC>gtT p.V3861V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3861 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) CTGCTGAAGTCACTACCATAC 0.488000 12 63 0 0 0.013537 0 0 LRP1B 53353 broad.mit.edu 37 2 141093194 141093194 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:141093194G>A ENST00000389484.3 - 78 13077 c.12106C>T c.(12106-12108)Cct>Tct p.P4036S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4036 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.P4036S(1) 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) CCTCTTTTAGGATTTACTGCA 0.383000 TSP Lung(27;0.18) 33 62 0 0 0.012213 0 0 XDH 7498 broad.mit.edu 37 2 31600069 31600069 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:31600069C>T ENST00000379416.3 - 14 1325 c.1277G>A c.(1276-1278)cGg>cAg p.R426Q NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 426 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) ATCTTCTCTCCGGGAGGCCTG 0.512000 17 51 0 0 0.008871 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222729 140222729 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140222729C>T ENST00000531613.1 + 1 1823 c.1823C>T c.(1822-1824)tCg>tTg p.S608L PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.S608L|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron NM_018911.2 NP_061734.1 p.S608L(4) 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) GCGTGGCTTTCGTATGAGCTG 0.682000 10 38 0 0 0.010729 0 0 FAM74A3 728495 broad.mit.edu 37 9 40716146 40716146 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:40716146C>T ENST00000604146.1 + 0 485 NR_026801.1 endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) AGAGGCTGTCCCGGAGAAGAC 0.512000 7 51 0 0 0.001984 0 0 TRANK1 9881 broad.mit.edu 37 3 36874009 36874009 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:36874009C>T ENST00000429976.2 - 21 7180 c.6933G>A c.(6931-6933)gaG>gaA p.E2311E TRANK1_ENST00000428977.2_Silent_p.E1761E|TRANK1_ENST00000301807.6_Silent_p.E1761E O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2311 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 TGTAGTTGTCCTCCTCCTGGT 0.517000 35 72 0 0 0.003755 0 0 EGFLAM 133584 broad.mit.edu 37 5 38406334 38406334 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:38406334C>T ENST00000322350.5 + 7 1165 c.819C>T c.(817-819)tcC>tcT p.S273S EGFLAM_ENST00000336740.6_Silent_p.S39S|EGFLAM_ENST00000354891.3_Silent_p.S273S|EGFLAM_ENST00000397202.2_Intron NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 273 cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TGGATATTTCCTTTGAGGAGG 0.438000 7 33 0 0 0.003080 0 0 LRP2 4036 broad.mit.edu 37 2 170038771 170038771 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:170038771C>T ENST00000263816.3 - 51 10189 c.9904G>A c.(9904-9906)Gga>Aga p.G3302R LRP2_ENST00000461418.1_5'UTR NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3302 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) CGGCGGTGTCCACCATTGAGG 0.512000 44 81 0 0 0.009718 0 0 MOG 4340 broad.mit.edu 37 6 29638548 29638548 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:29638548G>A ENST00000376894.4 + 7 898 c.780G>A c.(778-780)agG>agA p.R260R MOG_ENST00000483013.1_Intron|MOG_ENST00000376898.3_Intron|MOG_ENST00000376891.4_Intron|MOG_ENST00000376888.2_Intron|MOG_ENST00000416766.2_Intron|MOG_ENST00000376917.3_Intron|MOG_ENST00000490427.1_Intron|MOG_ENST00000396701.2_Intron|MOG_ENST00000494692.1_Intron|MOG_ENST00000376902.3_Intron|MOG_ENST00000533330.2_Intron|MOG_ENST00000396704.3_Intron|MOG_ENST00000431798.2_Intron Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein 0 cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 GCCAGGAAAGGGAGACAGAAG 0.463000 7 9 0 0 0.001984 0 0 OR52I2 143502 broad.mit.edu 37 11 4608102 4608102 + Silent SNP G G A rs2115929 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:4608102G>A ENST00000312614.4 + 1 82 c.60G>A c.(58-60)agG>agA p.R20R NM_001005170.2 NP_001005170.1 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, member 2 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GCATTAACAGGAAAAAAGTCT 0.453000 19 61 0 0 0.008871 0 0 CSMD1 64478 broad.mit.edu 37 8 3566012 3566012 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:3566012C>T ENST00000520002.1 - 7 1488 c.931_splice c.e7-1 p.V311_splice CSMD1_ENST00000602557.1_Splice_Site_p.V311_splice|CSMD1_ENST00000542608.1_Splice_Site_p.V311_splice|CSMD1_ENST00000400186.3_Splice_Site_p.V311_splice|CSMD1_ENST00000602723.1_Splice_Site_p.V311_splice|CSMD1_ENST00000539096.1_Splice_Site_p.V311_splice|CSMD1_ENST00000537824.1_Splice_Site_p.V311_splice Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 311 CUB 2. 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) TCGCCTTTTTCACTGGAAGAA 0.428000 4 27 0 0 0.009096 0 0 RCN1 5954 broad.mit.edu 37 11 32119928 32119928 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:32119928C>T ENST00000054950.3 + 3 774 c.481C>T c.(481-483)Cat>Tat p.H161Y RCN1_ENST00000532942.1_Missense_Mutation_p.H110Y|RP1-65P5.3_ENST00000533009.1_RNA NM_002901.2 NP_002892.1 Q15293 RCN1_HUMAN reticulocalbin 1, EF-hand calcium binding domain 161 endoplasmic reticulum lumen calcium ion binding breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6) 17 Lung SC(675;0.225) TTCTTCAGATCATCACACCTT 0.468000 9 47 0 0 0.013537 0 0 CMTM8 152189 broad.mit.edu 37 3 32409428 32409428 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:32409428C>T ENST00000307526.3 + 3 680 c.386C>T c.(385-387)tCc>tTc p.S129F CMTM8_ENST00000458535.2_Missense_Mutation_p.S71F NM_178868.3 NP_849199.2 Q8IZV2 CKLF8_HUMAN CKLF-like MARVEL transmembrane domain containing 8 129 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity breast(1)|endometrium(1)|kidney(1)|lung(1) 4 GATGCATCTTCCGTCTCCCCT 0.587000 19 45 0 0 0.007413 0 0 SLC30A8 169026 broad.mit.edu 37 8 118184871 118184871 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:118184871C>T ENST00000427715.2 + 11 1348 c.914C>T c.(913-915)cCa>cTa p.P305L SLC30A8_ENST00000519688.1_Missense_Mutation_p.P305L|SLC30A8_ENST00000521243.1_Missense_Mutation_p.P305L|SLC30A8_ENST00000456015.2_Missense_Mutation_p.P354L NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 354 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) ATGGAATCTCCAGTTGACCAG 0.512000 148 205 0 0 0.014410 0 0 WDR49 151790 broad.mit.edu 37 3 167277998 167277998 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:167277998C>T ENST00000308378.3 - 5 810 c.505G>A c.(505-507)Ggg>Agg p.G169R WDR49_ENST00000476376.1_5'UTR|WDR49_ENST00000453925.2_Missense_Mutation_p.G222R|WDR49_ENST00000479765.1_Intron NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 169 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 ACAGTAGACCCTGTATCAGAG 0.378000 19 21 0 0 0.007413 0 0 CASS4 57091 broad.mit.edu 37 20 55027835 55027835 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:55027835G>A ENST00000371336.3 + 5 1804 c.1603G>A c.(1603-1605)Gaa>Aaa p.E535K CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Missense_Mutation_p.E535K NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 535 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 TGAAACAAAGGAAAGCTTGGA 0.498000 7 32 0 0 0.003080 0 0 ZNF648 127665 broad.mit.edu 37 1 182025748 182025748 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:182025748G>A ENST00000339948.3 - 2 1605 c.1398C>T c.(1396-1398)caC>caT p.H466H NM_001009992.1 NP_001009992.1 Q5T619 ZN648_HUMAN zinc finger protein 648 466 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 40 GGATGCGCTGGTGGCGCACGA 0.667000 7 8 0 0 0.001984 0 0 DAB2 1601 broad.mit.edu 37 5 39381674 39381674 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:39381674G>A ENST00000545653.1 - 10 1853 c.1323C>T c.(1321-1323)ccC>ccT p.P441P DAB2_ENST00000509337.1_Silent_p.P441P|DAB2_ENST00000320816.6_Silent_p.P462P|DAB2_ENST00000339788.6_Silent_p.P244P NM_001244871.1 NP_001231800.1 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 462 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding p.P462P(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) GTTCTGAGACGGGAGGAGCAA 0.537000 13 54 0 0 0.013537 0 0 OR52L1 338751 broad.mit.edu 37 11 6008110 6008110 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:6008110G>A ENST00000332249.4 - 1 105 c.51C>T c.(49-51)ctC>ctT p.L17L NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L2L(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) AATTGCTAAGGAGCATTATCA 0.463000 5 47 0 0 0.000602 0 0 LINC00842 643650 broad.mit.edu 37 10 47133708 47133708 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:47133708C>T ENST00000422732.2 - 0 435 NR_033957.1 AGAACCACTTCGACCTCTTTG 0.468000 6 58 0 0 0.001984 0 0 CARD11 84433 broad.mit.edu 37 7 2976698 2976698 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:2976698G>A ENST00000396946.4 - 9 1717 c.1314C>T c.(1312-1314)ctC>ctT p.L438L NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 438 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) TGTCCTTGGAGAGGCGCCGCA 0.662000 Mis DLBCL 13 34 0 0 0.001855 0 0 SERPINA5 5104 broad.mit.edu 37 14 95053777 95053777 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:95053777G>A ENST00000329597.7 + 3 288 c.78G>A c.(76-78)gaG>gaA p.E26E SERPINA5_ENST00000554276.1_Silent_p.E26E|SERPINA5_ENST00000554866.1_Silent_p.E26E|SERPINA5_ENST00000553780.1_Silent_p.E26E NM_000624.4 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 26 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) ACCCCCGGGAGATGAAGAAGA 0.597000 23 53 0 0 0.012319 0 0 DEPTOR 64798 broad.mit.edu 37 8 121015293 121015293 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:121015293T>A ENST00000286234.5 + 6 998 c.868T>A c.(868-870)Ttc>Atc p.F290I DEPTOR_ENST00000518057.1_3'UTR|DEPTOR_ENST00000523492.1_Missense_Mutation_p.F189I NM_022783.2 NP_073620.2 Q8TB45 DPTOR_HUMAN DEP domain containing MTOR-interacting protein 290 Ser-rich. intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis intracellular protein binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 18 cagcggctacttcagcagcag 0.612000 8 16 0 0 0.004482 0 0 TCEA2 6919 broad.mit.edu 37 20 62698298 62698298 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:62698298C>T ENST00000395053.3 + 3 321 c.166C>T c.(166-168)Ctt>Ttt p.L56F TCEA2_ENST00000361317.2_Missense_Mutation_p.L29F|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000343484.5_Missense_Mutation_p.L56F Q15560 TCEA2_HUMAN transcription elongation factor A (SII), 2 56 TFIIS N-terminal. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent transcription elongation factor complex DNA binding|protein binding|translation elongation factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7) 12 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) TGTCAACGCCCTTCGGAAGCA 0.622000 3 14 0 0 0.004672 0 0 HEYL 26508 broad.mit.edu 37 1 40097243 40097243 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:40097243C>T ENST00000372852.3 - 3 475 c.156G>A c.(154-156)gaG>gaA p.E52E HEYL_ENST00000535435.1_Silent_p.E24E NM_014571.3 NP_055386.1 Q9NQ87 HEYL_HUMAN hes-related family bHLH transcription factor with YRPW motif-like 52 Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity). multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GACGCCGTTTCTCTATGATCT 0.448000 18 29 0 0 0.010504 0 0 LEPREL1 55214 broad.mit.edu 37 3 189711983 189711983 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:189711983G>A ENST00000319332.5 - 3 920 c.723C>T c.(721-723)ttC>ttT p.F241F LEPREL1_ENST00000427335.2_Silent_p.F60F NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 241 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus 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 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TATCTTCAACGAAATATTCTC 0.413000 6 32 0 0 0.001984 0 0 PIP4K2A 5305 broad.mit.edu 37 10 22896936 22896936 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:22896936G>A ENST00000376573.4 - 3 487 c.259C>T c.(259-261)Cat>Tat p.H87Y PIP4K2A_ENST00000545335.1_Missense_Mutation_p.H28Y|PIP4K2A_ENST00000422321.1_5'UTR NM_005028.4 NP_005019.2 P48426 PI42A_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, alpha 87 PIPK. 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 29 AACTTGAAATGGCTCGGCATG 0.463000 10 18 0 0 0.010729 0 0 AFF2 2334 broad.mit.edu 37 X 148072755 148072755 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:148072755C>T ENST00000370460.2 + 21 4308 c.3829C>T c.(3829-3831)Ctg>Ttg p.L1277L AFF2_ENST00000342251.3_Silent_p.L1244L|AFF2_ENST00000286437.5_Silent_p.L918L|AFF2_ENST00000370457.5_Silent_p.L1242L NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 1277 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) CTTTGGTGATCTGGACACGCT 0.488000 32 15 0 0 0.010818 0 0 SRRT 51593 broad.mit.edu 37 7 100479839 100479839 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:100479839C>T ENST00000388793.4 + 5 784 c.564C>T c.(562-564)ttC>ttT p.F188F SRRT_ENST00000432932.1_Silent_p.F188F|SRRT_ENST00000347433.4_Silent_p.F188F|SRRT_ENST00000457580.2_Silent_p.F188F NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 188 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 AGGATTTCTTCCTGGCGCACA 0.592000 11 30 0 0 0.010729 0 0 TNXB 7148 broad.mit.edu 37 6 32020716 32020716 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:32020716G>A ENST00000375244.3 - 26 9047 c.8846C>T c.(8845-8847)cCc>cTc p.P2949L TNXB_ENST00000375247.2_Missense_Mutation_p.P2947L P22105 TENX_HUMAN tenascin XB 2994 Fibronectin type-III 21. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CTCCTCAGGGGGCTCCGGGGC 0.662000 116 234 0 0 0.014410 0 0 CADM3 57863 broad.mit.edu 37 1 159169565 159169565 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:159169565C>T ENST00000368125.4 + 8 1134 c.977C>T c.(976-978)tCc>tTc p.S326F CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Missense_Mutation_p.S360F|CADM3_ENST00000497636.1_3'UTR NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 326 adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity 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) CCCTCCTCCTCCAGCACCTAC 0.532000 11 39 0 0 0.013537 0 0 CD34 947 broad.mit.edu 37 1 208073331 208073331 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:208073331G>A ENST00000356522.4 - 2 418 c.97C>T c.(97-99)Ctt>Ttt p.L33F CD34_ENST00000310833.7_Missense_Mutation_p.L33F|CD34_ENST00000537704.1_5'UTR NM_001773.2 NP_001764.1 P28906 CD34_HUMAN CD34 molecule 33 cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding kidney(2)|large_intestine(2)|lung(8)|ovary(1) 13 TTGTTGTCAAGACTCATGAAC 0.428000 14 27 0 0 0.004007 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74904306 74904306 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:74904306C>T ENST00000289575.5 + 9 1514 c.1119C>T c.(1117-1119)ttC>ttT p.F373F SLCO2B1_ENST00000525650.1_Silent_p.F229F|SLCO2B1_ENST00000532236.1_Silent_p.F257F|SLCO2B1_ENST00000428359.2_Silent_p.F351F|SLCO2B1_ENST00000341411.4_Silent_p.F146F|SLCO2B1_ENST00000454962.2_Silent_p.F146F|SLCO2B1_ENST00000531756.1_Silent_p.F118F NM_007256.4 NP_009187.1 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 373 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) ACCCCATCTTCCTGCTGGTGG 0.627000 32 44 0 0 0.009535 0 0 RFX2 5990 broad.mit.edu 37 19 6040144 6040144 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:6040144G>A ENST00000303657.5 - 5 518 c.369C>T c.(367-369)tcC>tcT p.S123S RFX2_ENST00000359161.3_Silent_p.S123S|RFX2_ENST00000592546.1_Silent_p.S123S NM_000635.3 NP_000626.2 P48378 RFX2_HUMAN regulatory factor X, 2 (influences HLA class II expression) 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 CCGCTGGCGGGGACGAGGCTG 0.677000 23 38 0 0 0.014323 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40259715 40259715 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:40259715C>T ENST00000263791.5 + 9 1231 c.1188C>T c.(1186-1188)ccC>ccT p.P396P EIF2AK4_ENST00000559624.1_Silent_p.P396P|EIF2AK4_ENST00000382727.2_Silent_p.P396P NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 396 Protein kinase 1. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) ACTCAGGCCCCATCCCTGTGC 0.517000 6 32 0 0 0.001168 0 0 DGCR14 8220 broad.mit.edu 37 22 19121774 19121774 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:19121774G>A ENST00000252137.6 - 10 1409 c.1366C>T c.(1366-1368)Ccg>Tcg p.P456S NM_022719.2 NP_073210.1 Q96DF8 DGC14_HUMAN DiGeorge syndrome critical region gene 14 456 nervous system development catalytic step 2 spliceosome breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 16 Colorectal(54;0.0993) ATGGAGGCCGGGTCCTGTGTG 0.657000 13 25 0 0 0.001855 0 0 ASB11 140456 broad.mit.edu 37 X 15311353 15311353 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:15311353G>A ENST00000537676.1 - 4 468 c.396C>T c.(394-396)ttC>ttT p.F132F ASB11_ENST00000480796.1_Silent_p.F153F|ASB11_ENST00000380470.3_Silent_p.F136F|ASB11_ENST00000344384.4_Silent_p.F132F Q8WXH4 ASB11_HUMAN ankyrin repeat and SOCS box containing 11 153 intracellular signal transduction breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1) 16 Hepatocellular(33;0.183) CCTTGGCTCCGAACTCCAGCA 0.552000 49 68 0 0 0.014410 0 0 MUC4 4585 broad.mit.edu 37 3 195517442 195517442 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:195517442G>A ENST00000463781.3 - 2 1468 c.1009C>T c.(1009-1011)Caa>Taa p.Q337* MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Nonsense_Mutation_p.Q337*|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 342 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GTGTTGATTTGAGATACTCTG 0.458000 63 116 0 0 0.014410 0 0 XKR3 150165 broad.mit.edu 37 22 17288907 17288907 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:17288907C>T ENST00000331428.5 - 2 159 c.57G>A c.(55-57)tcG>tcA p.S19S NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 19 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TTTCTTCTTTCGAAGATGAAA 0.423000 17 92 0 0 0.008871 0 0 ARID1B 57492 broad.mit.edu 37 6 157521850 157521850 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:157521850C>T ENST00000346085.5 + 18 4123 c.4122C>T c.(4120-4122)cgC>cgT p.R1374R ARID1B_ENST00000350026.5_Silent_p.R1361R|ARID1B_ENST00000275248.4_Silent_p.R1356R|ARID1B_ENST00000367148.1_Silent_p.R1414R NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1361 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) ATTACAAACGCCATATGGACG 0.463000 24 57 0 0 0.004656 0 0 NLRC4 58484 broad.mit.edu 37 2 32474890 32474890 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:32474890C>T ENST00000404025.2 - 5 2531 c.2043G>A c.(2041-2043)ggG>ggA p.G681G NLRC4_ENST00000360906.5_Silent_p.G681G|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Silent_p.G681G Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 681 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TGAATATTTTCCCCAGATATC 0.458000 21 65 0 0 0.008871 0 0 DLGAP2 9228 broad.mit.edu 37 8 1497566 1497566 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:1497566A>G ENST00000421627.2 + 2 841 c.707A>G c.(706-708)aAc>aGc p.N236S NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 315 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) AGCGTGCTCAACCGGCACCAC 0.687000 32 65 0 0 0.004289 0 0 ZBBX 79740 broad.mit.edu 37 3 167033541 167033541 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:167033541C>T ENST00000392766.2 - 15 1611 c.1271G>A c.(1270-1272)cGa>cAa p.R424Q ZBBX_ENST00000455345.2_Missense_Mutation_p.R424Q|ZBBX_ENST00000392764.1_Missense_Mutation_p.R395Q|ZBBX_ENST00000307529.5_Missense_Mutation_p.R424Q|ZBBX_ENST00000392767.2_Missense_Mutation_p.R424Q NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 424 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 GTTTTACCTTCGTTGACTGTC 0.323000 6 18 0 0 0.003080 0 0 ZNF845 91664 broad.mit.edu 37 19 53854385 53854385 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:53854385A>G ENST00000458035.1 + 4 574 c.457A>G c.(457-459)Atg>Gtg p.M153V ZNF845_ENST00000595091.1_Missense_Mutation_p.M153V NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 153 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TGAACTCCACATGTTTCAGAC 0.423000 5 129 0 0 0.000602 0 0 OR52I2 143502 broad.mit.edu 37 11 4608104 4608104 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:4608104A>T ENST00000312614.4 + 1 84 c.62A>T c.(61-63)aAa>aTa p.K21I NM_001005170.2 NP_001005170.1 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, member 2 21 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ATTAACAGGAAAAAAGTCTCA 0.448000 21 61 0 0 0.012319 0 0 PTPRD 5789 broad.mit.edu 37 9 8492952 8492952 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:8492952C>T ENST00000381196.4 - 24 2920 c.2377G>A c.(2377-2379)Gaa>Aaa p.E793K PTPRD_ENST00000358503.5_Missense_Mutation_p.E771K|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.E793K|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.E780K|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.E793K NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 793 Fibronectin type-III 5. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TAGGAAGTTTCAGGCTGGAGC 0.488000 TSP Lung(15;0.13) 18 78 0 0 0.010504 0 0 CCDC27 148870 broad.mit.edu 37 1 3673449 3673449 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:3673449G>A ENST00000294600.2 + 4 790 c.706G>A c.(706-708)Gag>Aag p.E236K NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 236 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) AGTCATCCACGAGAAGGTACT 0.612000 12 14 0 0 0.013537 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212379 26212379 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:26212379C>T ENST00000379034.1 + 2 565 c.416C>T c.(415-417)tCc>tTc p.S139F NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 139 Ser-rich. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 CCAAGCACTTCCCATGATGTC 0.537000 6 20 0 0 0.001168 0 0 VWA3A 146177 broad.mit.edu 37 16 22163875 22163875 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:22163875G>A ENST00000389397.4 + 32 3493 c.631G>A c.(631-633)Gga>Aga p.G211R VWA3A_ENST00000389398.5_Missense_Mutation_p.G1109R|VWA3A_ENST00000563755.1_Missense_Mutation_p.G211R A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 1109 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) CTTCACCGGCGGACGCTATCA 0.557000 11 13 0 0 0.001855 0 0 ADAM18 8749 broad.mit.edu 37 8 39506003 39506003 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:39506003G>A ENST00000265707.5 + 12 1232 c.1187G>A c.(1186-1188)gGg>gAg p.G396E ADAM18_ENST00000541111.1_Intron|ADAM18_ENST00000379866.1_Missense_Mutation_p.G372E NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 396 Disintegrin. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TGTGGTAATGGGATTTTGGAA 0.318000 7 21 0 0 0.003080 0 0 HSCB 150274 broad.mit.edu 37 22 29139878 29139878 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:29139878C>T ENST00000216027.3 + 2 310 c.245C>T c.(244-246)tCc>tTc p.S82F HSCB_ENST00000398941.2_Missense_Mutation_p.S82F|HSCB_ENST00000495977.1_3'UTR NM_172002.3 NP_741999.3 Q8IWL3 HSC20_HUMAN HscB mitochondrial iron-sulfur cluster co-chaperone 82 J. iron-sulfur cluster assembly|protein folding mitochondrion chaperone binding|heat shock protein binding|metal ion binding kidney(1)|lung(2)|skin(1) 4 AGCAACCGTTCCTTCAGAGTT 0.448000 25 52 0 0 0.005443 0 0 NTRK3 4916 broad.mit.edu 37 15 88680699 88680699 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:88680699G>A ENST00000394480.1 - 7 879 c.558C>T c.(556-558)aaC>aaT p.N186N NTRK3_ENST00000542733.2_Silent_p.N88N|NTRK3_ENST00000557856.1_Silent_p.N186N|NTRK3_ENST00000540489.2_Silent_p.N186N|NTRK3_ENST00000360948.2_Silent_p.N186N|NTRK3_ENST00000355254.2_Silent_p.N186N|NTRK3_ENST00000558676.1_Silent_p.N186N|NTRK3_ENST00000317501.3_Silent_p.N186N|NTRK3_ENST00000357724.2_Silent_p.N186N NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 186 LRRCT. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) TGCAGTAGAGGTTCTGGCTGT 0.592000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 4 16 0 0 0.009096 0 0 LHCGR 3973 broad.mit.edu 37 2 48915500 48915500 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:48915500C>T ENST00000294954.7 - 11 1457 c.1436G>A c.(1435-1437)cGa>cAa p.R479Q LHCGR_ENST00000344775.3_Missense_Mutation_p.R417Q|LHCGR_ENST00000405626.1_Missense_Mutation_p.R452Q|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_Intron NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 479 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity p.R479L(1) NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) ATGTCTTAATCGCAGCTTTTG 0.448000 6 45 0 0 0.001168 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735475 55735475 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:55735475G>A ENST00000312345.2 - 1 515 c.465C>T c.(463-465)ttC>ttT p.F155F NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) AGGGCAAAAGGAAAATTTGGC 0.388000 9 37 0 0 0.006214 0 0 SLC25A12 8604 broad.mit.edu 37 2 172700971 172700971 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:172700971G>A ENST00000422440.2 - 5 410 c.373C>T c.(373-375)Cct>Tct p.P125S SLC25A12_ENST00000472748.1_5'UTR|SLC25A12_ENST00000392592.4_Missense_Mutation_p.P18S NM_003705.4 NP_003696.2 O75746 CMC1_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 12 125 EF-hand 3. gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) CAGTTAAAAGGGATATGATGA 0.328000 13 42 0 0 0.001855 0 0 WASF3 10810 broad.mit.edu 37 13 27256988 27256988 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:27256988C>T ENST00000361042.4 + 9 1444 c.1219C>T c.(1219-1221)Ccc>Tcc p.P407S WASF3_ENST00000335327.5_Missense_Mutation_p.P410S Q9UPY6 WASF3_HUMAN WAS protein family, member 3 410 Poly-Pro. actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CCCTCCTGGTCCCGGGTCTTC 0.687000 11 45 0 0 0.008291 0 0 DOPEY1 23033 broad.mit.edu 37 6 83869520 83869520 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:83869520C>T ENST00000349129.2 + 37 7063 c.6803C>T c.(6802-6804)tCa>tTa p.S2268L DOPEY1_ENST00000237163.5_Missense_Mutation_p.S2152L|DOPEY1_ENST00000369739.3_Missense_Mutation_p.S2259L|DOPEY1_ENST00000484282.1_3'UTR NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 2268 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TACAGGACTTCAGGGCCCTCT 0.463000 20 49 0 0 0.012319 0 0 PRKDC 5591 broad.mit.edu 37 8 48790352 48790352 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:48790352G>A ENST00000314191.2 - 41 5349 c.5293C>T c.(5293-5295)Ctt>Ttt p.L1765F PRKDC_ENST00000338368.3_Missense_Mutation_p.L1765F|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 1766 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) TCCCGACAAAGAACTTCTGTC 0.388000 Non-homologous end-joining 24 72 0 0 0.003330 0 0 SLC45A1 50651 broad.mit.edu 37 1 8384558 8384558 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:8384558C>T ENST00000471889.1 + 2 554 c.169C>T c.(169-171)Cgt>Tgt p.R57C SLC45A1_ENST00000289877.8_Missense_Mutation_p.R57C|SLC45A1_ENST00000377479.2_Missense_Mutation_p.R91C Q9Y2W3 S45A1_HUMAN solute carrier family 45, member 1 57 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GAAGTGCATTCGTCCCTCCCC 0.647000 10 30 0 0 0.010729 0 0 SYCP1 6847 broad.mit.edu 37 1 115487549 115487549 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:115487549T>C ENST00000369522.3 + 25 2340 c.2100T>C c.(2098-2100)gaT>gaC p.D700D SYCP1_ENST00000369518.1_Silent_p.D700D NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 700 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) 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) AAGAAATTGATAAGCGATGTC 0.264000 9 21 0 0 0.001855 0 0 DSG4 147409 broad.mit.edu 37 18 28989757 28989757 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:28989757G>A ENST00000308128.4 + 14 2258 c.2123G>A c.(2122-2124)cGg>cAg p.R708Q DSG4_ENST00000359747.4_Intron|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA NM_177986.3 NP_817123.1 Q86SJ6 DSG4_HUMAN desmoglein 4 708 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) ACCCAGGATCGGATGGATTCC 0.328000 14 23 0 0 0.006122 0 0 TRPC5 7224 broad.mit.edu 37 X 111090644 111090644 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:111090644C>T ENST00000262839.2 - 6 2316 c.1398G>A c.(1396-1398)agG>agA p.R466R NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 466 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 CCCATTCCTCCCTTGGACGAG 0.433000 12 21 0 0 0.002450 0 0 FAM81B 153643 broad.mit.edu 37 5 94749851 94749851 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:94749851A>G ENST00000283357.5 + 4 540 c.494A>G c.(493-495)cAg>cGg p.Q165R NM_152548.2 NP_689761.2 Q96LP2 FA81B_HUMAN family with sequence similarity 81, member B 165 central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473) all cancers(79;1.04e-16) AGCCACATCCAGACCATCACC 0.448000 6 26 0 0 0.004482 0 0 HOXB7 3217 broad.mit.edu 37 17 46688173 46688173 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:46688173G>A ENST00000239165.7 - 1 206 c.108C>T c.(106-108)tcC>tcT p.S36S HOXB7_ENST00000567101.1_Intron NM_004502.3 NP_004493.3 P09629 HXB7_HUMAN homeobox B7 36 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 8 GCTGGGGGTTGGAAGCAAACG 0.582000 7 21 0 0 0.003080 0 0 COLGALT2 23127 broad.mit.edu 37 1 183909805 183909805 + Missense_Mutation SNP T T G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:183909805T>G ENST00000361927.4 - 11 1885 c.1514A>C c.(1513-1515)gAa>gCa p.E505A COLGALT2_ENST00000367520.3_Missense_Mutation_p.E242A|COLGALT2_ENST00000367521.1_Missense_Mutation_p.E113A|COLGALT2_ENST00000486375.1_5'UTR|COLGALT2_ENST00000546159.1_Missense_Mutation_p.E505A NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 CTGTGCTCCTTCCAGAGAGAT 0.527000 26 60 0 0 0.005443 0 0 SIRPB1 10326 broad.mit.edu 37 20 1552369 1552369 + Nonsense_Mutation SNP G G A rs148690008 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:1552369G>A ENST00000381605.4 - 3 812 c.748C>T c.(748-750)Cga>Tga p.R250* SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 250 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CTTCTACCTCGGATGGCCTCA 0.597000 6 30 0 0 0.001984 0 0 GRIN3A 116443 broad.mit.edu 37 9 104390670 104390670 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:104390670G>A ENST00000361820.3 - 4 2966 c.2366C>T c.(2365-2367)tCc>tTc p.S789F NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 789 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GAATCCTTGGGAAGGATGATG 0.328000 16 16 0 0 0.004990 0 0 PIANP 196500 broad.mit.edu 37 12 6804782 6804782 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:6804782C>T ENST00000534837.1 - 5 870 c.641G>A c.(640-642)gGg>gAg p.G214E PIANP_ENST00000320591.5_Missense_Mutation_p.G214E|PIANP_ENST00000540656.1_Missense_Mutation_p.G214E NM_001244014.1 NP_001230943.1 PILR alpha associated neural protein ACCTTGCTGCCCTGAGGGTCT 0.647000 55 46 0 0 0.014410 0 0 SLC35F4 341880 broad.mit.edu 37 14 58063540 58063540 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:58063540C>T ENST00000339762.6 - 1 75 c.76G>A c.(76-78)Ggt>Agt p.G26S SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000554729.1_5'UTR solute carrier family 35, member F4 breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TGTGATATACCGCAAAGCCCA 0.423000 14 25 0 0 0.002450 0 0 TRHR 7201 broad.mit.edu 37 8 110131616 110131616 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:110131616C>T ENST00000518632.1 + 3 1480 c.1129C>T c.(1129-1131)Ctg>Ttg p.L377L TRHR_ENST00000311762.2_Silent_p.L377L P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 377 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) TGACACTTACCTGTCTGCCAC 0.423000 25 68 0 0 0.004656 0 0 CAMK1D 57118 broad.mit.edu 37 10 12866547 12866547 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:12866547G>A ENST00000378847.3 + 9 1254 c.917G>A c.(916-918)tGg>tAg p.W306* CAMK1D_ENST00000378845.1_Nonsense_Mutation_p.W306* NM_153498.2 NP_705718.1 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 306 Autoinhibitory domain (By similarity).|Calmodulin-binding (By similarity). calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) AAGAGCAAATGGAGAGTAAGT 0.507000 16 60 0 0 0.007413 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1905131 1905131 + Missense_Mutation SNP C C T rs111978809 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:1905131C>T ENST00000518288.1 + 30 3972 c.3809C>T c.(3808-3810)tCg>tTg p.S1270L ARHGEF10_ENST00000520359.1_Missense_Mutation_p.S1208L|ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.S1246L|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.S1271L|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.S1242L O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 1271 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) TTGGGAGATTCGCTGGGATCG 0.582000 33 57 0 0 0.007835 0 0 C16orf78 123970 broad.mit.edu 37 16 49433081 49433081 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:49433081C>T ENST00000299191.3 + 5 807 c.690C>T c.(688-690)ctC>ctT p.L230L NM_144602.2 NP_653203.1 Q8WTQ4 CP078_HUMAN chromosome 16 open reading frame 78 230 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1) 22 GGACCTTGCTCAAGTTGTGCA 0.468000 27 46 0 0 0.007291 0 0 BPIFB1 92747 broad.mit.edu 37 20 31878781 31878781 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:31878781C>T ENST00000253354.1 + 5 545 c.384C>T c.(382-384)atC>atT p.I128I NM_033197.2 NP_149974.2 Q8TDL5 LPLC1_HUMAN BPI fold containing family B, member 1 128 extracellular space lipid binding TCAAGACCATCGTGGAGTTCC 0.642000 8 17 0 0 0.003080 0 0 NYAP2 57624 broad.mit.edu 37 2 226447249 226447249 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:226447249G>A ENST00000272907.6 + 4 1529 c.1116G>A c.(1114-1116)atG>atA p.M372I NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 372 Pro-rich. TGTCTTACATGAAACAGCCAG 0.667000 7 3 0 0 0.004482 0 0 CRY2 1408 broad.mit.edu 37 11 45868990 45868990 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:45868990C>T ENST00000443527.2 + 1 34 c.12C>T c.(10-12)gtC>gtT p.V4V CRY2_ENST00000417225.2_Intron NM_021117.3 NP_066940.2 Q49AN0 CRY2_HUMAN cryptochrome 2 (photolyase-like) 0 DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2) 15 TGGGCGGGGTCCACGTCGCCT 0.721000 16 31 0 0 0.004990 0 0 PRKCB 5579 broad.mit.edu 37 16 24196465 24196465 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:24196465G>A ENST00000303531.7 + 14 1719 c.1567G>A c.(1567-1569)Gat>Aat p.D523N PRKCB_ENST00000321728.7_Missense_Mutation_p.D523N NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 523 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) GAAGTCCGTGGATTGGTGGGC 0.458000 16 80 0 0 0.004007 0 0 IQCK 124152 broad.mit.edu 37 16 19745082 19745082 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:19745082C>T ENST00000320394.6 + 4 1008 c.309C>T c.(307-309)tcC>tcT p.S103S IQCK_ENST00000433597.2_Silent_p.S15S|IQCK_ENST00000564186.1_Silent_p.S103S|IQCK_ENST00000541926.1_Silent_p.S103S NM_153208.1 NP_694940.1 Q8N0W5 IQCK_HUMAN IQ motif containing K 103 kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 TTCCGGTTTCCCATTTCACCA 0.438000 25 48 0 0 0.003330 0 0 THRB 7068 broad.mit.edu 37 3 24169111 24169111 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:24169111C>T ENST00000396671.2 - 10 1371 c.1023G>A c.(1021-1023)ctG>ctA p.L341L THRB_ENST00000416420.1_Silent_p.L341L|THRB_ENST00000356447.4_Silent_p.L341L|THRB_ENST00000280696.5_Silent_p.L356L NM_001128176.2 NP_001121648.1 P10828 THB_HUMAN thyroid hormone receptor, beta 341 Interaction with NR2F6.|Ligand-binding. L -> P (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) CCCCATTTTTCAGCTGGCCCC 0.537000 20 83 0 0 0.010504 0 0 FAM120B 84498 broad.mit.edu 37 6 170700139 170700139 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:170700139C>T ENST00000476287.1 + 8 2637 c.2529C>T c.(2527-2529)gtC>gtT p.V843V FAM120B_ENST00000540480.1_Silent_p.V855V|FAM120B_ENST00000537664.1_Silent_p.V866V|FAM120B_ENST00000252510.9_Silent_p.V175V NM_032448.1 NP_115824.1 Q96EK7 F120B_HUMAN family with sequence similarity 120B 843 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) TGAAGGCAGTCGTCTGCAAGG 0.572000 6 26 0 0 0.003080 0 0 SULF2 55959 broad.mit.edu 37 20 46365584 46365584 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:46365584G>A ENST00000359930.4 - 3 1129 c.278C>T c.(277-279)tCc>tTc p.S93F SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000467815.1_Missense_Mutation_p.S93F|SULF2_ENST00000361612.4_Missense_Mutation_p.S93F|SULF2_ENST00000484875.1_Missense_Mutation_p.S93F NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 93 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 GAGGATGGAGGAGCGTGAGGG 0.607000 13 27 0 0 0.001855 0 0 HR 55806 broad.mit.edu 37 8 21979167 21979167 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:21979167G>A ENST00000381418.4 - 9 3642 c.2162C>T c.(2161-2163)tCc>tTc p.S721F HR_ENST00000312841.8_Missense_Mutation_p.S721F NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 721 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GCCATTGCAGGAAGGTTGTGG 0.547000 39 59 0 0 0.010771 0 0 ZKSCAN7 55888 broad.mit.edu 37 3 44612818 44612818 + Missense_Mutation SNP G G A rs151170690 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:44612818G>A ENST00000273320.3 + 6 2645 c.2216G>A c.(2215-2217)cGa>cAa p.R739Q ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.R739Q|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 CACCACCAGCGAACTCACACT 0.458000 21 47 0 0 0.014323 0 0 MRPS27 23107 broad.mit.edu 37 5 71516740 71516740 + Missense_Mutation SNP G G C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:71516740G>C ENST00000261413.5 - 11 1280 c.1241C>G c.(1240-1242)gCc>gGc p.A414G MRPS27_ENST00000513900.1_Missense_Mutation_p.A428G|MRPS27_ENST00000457646.4_Missense_Mutation_p.A358G NM_015084.2 NP_055899.2 Q92552 RT27_HUMAN mitochondrial ribosomal protein S27 414 mitochondrion|ribosome breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.46e-53) ACCCTATTAGGCAGATGCCTT 0.557000 18 58 0 0 0.010504 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117400742 117400742 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:117400742C>T ENST00000160373.3 - 10 3010 c.2919G>A c.(2917-2919)agG>agA p.R973R NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 973 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) CCACTGAAATCCTTAAGGGTA 0.328000 12 52 0 0 0.013537 0 0 LRP2 4036 broad.mit.edu 37 2 170070350 170070350 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:170070350G>A ENST00000263816.3 - 36 6142 c.5857C>T c.(5857-5859)Cga>Tga p.R1953* NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 1953 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) AGGATCATTCGATCTGTTCCA 0.363000 12 34 0 0 0.013537 0 0 HEPHL1 341208 broad.mit.edu 37 11 93800693 93800693 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:93800693G>A ENST00000315765.9 + 5 848 c.840G>A c.(838-840)ccG>ccA p.P280P NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 280 Plastocyanin-like 2. 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) GAAACTTCCCGGAGCCTGATA 0.468000 17 97 0 0 0.004990 0 0 PMFBP1 83449 broad.mit.edu 37 16 72164189 72164189 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:72164189C>T ENST00000537465.1 - 12 1878 c.1720G>A c.(1720-1722)Gaa>Aaa p.E574K PMFBP1_ENST00000237353.10_Missense_Mutation_p.E569K|PMFBP1_ENST00000355636.6_Missense_Mutation_p.E424K Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 574 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) TGCCTCTTTTCCTTGTCTGAA 0.478000 4 52 0 0 0.009096 0 0 RGS4 5999 broad.mit.edu 37 1 163039213 163039213 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:163039213G>A ENST00000421743.2 + 2 390 c.230G>A c.(229-231)cGa>cAa p.R77Q RGS4_ENST00000367908.4_5'UTR|RGS4_ENST00000527809.1_Intron|RGS4_ENST00000531057.1_5'UTR|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367909.6_5'UTR NM_001102445.2|NM_001113380.1 NP_001095915.1|NP_001106851.1 P49798 RGS4_HUMAN regulator of G-protein signaling 4 0 RGS. inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2) 21 GCTCAAAGCCGAAGCCACAGC 0.502000 OREG0013952 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 11 0 0 0.001168 0 0 KDM5B 10765 broad.mit.edu 37 1 202698951 202698951 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:202698951G>A ENST00000367265.3 - 26 5545 c.4381C>T c.(4381-4383)Cgt>Tgt p.R1461C KDM5B_ENST00000367264.2_Missense_Mutation_p.R1497C NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 1461 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 TCAGCAGAACGAACTAATTCA 0.468000 48 90 0 0 0.014410 0 0 AKR1B15 441282 broad.mit.edu 37 7 134261723 134261723 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:134261723C>T ENST00000457545.2 + 10 1094 c.834C>T c.(832-834)atC>atT p.I278I AKR1B15_ENST00000423958.1_Silent_p.I250I NM_001080538.2 NP_001074007.2 C9JRZ8 AK1BF_HUMAN aldo-keto reductase family 1, member B15 278 oxidoreductase activity endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1) 18 AGGTTCTGATCCGTTTCCATA 0.478000 21 101 0 0 0.002780 0 0 ZNF888 388559 broad.mit.edu 37 19 53418572 53418572 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:53418572G>A ENST00000596623.1 - 0 427 zinc finger protein 888 AATGTCAATAGACCCTGAAAT 0.418000 23 82 0 0 0.013726 0 0 NPLOC4 55666 broad.mit.edu 37 17 79580495 79580495 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:79580495G>A ENST00000374747.5 - 4 364 c.235C>T c.(235-237)Ccc>Tcc p.P79S NPLOC4_ENST00000539314.1_5'UTR|NPLOC4_ENST00000574344.1_5'UTR|NPLOC4_ENST00000331134.6_Missense_Mutation_p.P79S Q8TAT6 NPL4_HUMAN nuclear protein localization 4 homolog (S. cerevisiae) 79 cellular membrane fusion|ER-associated protein catabolic process|Golgi organization cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) AGGCTCGAGGGAAACAGGAAC 0.512000 12 9 0 0 0.010729 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21457408 21457408 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:21457408G>A ENST00000307378.6 - 7 1262 c.542C>T c.(541-543)tCc>tTc p.S181F SLCO1A2_ENST00000537524.1_Missense_Mutation_p.S49F|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.S49F|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.S179F|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.S181F NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 181 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity p.S181F(1) breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 TTCTATATAGGAAATACCCAA 0.373000 28 14 0 0 0.005443 0 0 ANKLE1 126549 broad.mit.edu 37 19 17394161 17394161 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:17394161C>T ENST00000394458.3 + 5 864 c.588C>T c.(586-588)ccC>ccT p.P196P ANKLE1_ENST00000404085.1_Silent_p.P218P|ANKLE1_ENST00000598347.1_Silent_p.P196P|ANKLE1_ENST00000433424.2_Silent_p.P250P|ANKLE1_ENST00000594072.1_Silent_p.P185P NM_152363.4 NP_689576.4 Q8NAG6 ANKL1_HUMAN ankyrin repeat and LEM domain containing 1 196 nuclear envelope large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 7 TCCCTGTTCCCCTTGAAACTG 0.592000 32 67 0 0 0.013726 0 0 CCDC129 223075 broad.mit.edu 37 7 31683179 31683179 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:31683179G>A ENST00000319386.3 + 11 2744 c.1751G>A c.(1750-1752)gGa>gAa p.G584E CCDC129_ENST00000407970.3_Missense_Mutation_p.G732E|CCDC129_ENST00000409210.1_Missense_Mutation_p.G640E|CCDC129_ENST00000451887.2_Missense_Mutation_p.G758E Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 732 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 GGTCCCAGAGGAACATCTTTA 0.507000 16 80 0 0 0.006122 0 0 TP53 7157 broad.mit.edu 37 17 7578454 7578454 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:7578454G>A ENST00000420246.2 - 5 608 c.476C>T c.(475-477)gCc>gTc p.A159V TP53_ENST00000359597.4_Missense_Mutation_p.A159V|TP53_ENST00000413465.2_Missense_Mutation_p.A159V|TP53_ENST00000455263.2_Missense_Mutation_p.A159V|TP53_ENST00000269305.4_Missense_Mutation_p.A159V|TP53_ENST00000445888.2_Missense_Mutation_p.A159V NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 159 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.A159V(33)|p.0?(8)|p.A159D(7)|p.R158fs(6)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R158fs*11(1)|p.A66V(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.A27V(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GATGGCCATGGCGCGGACGCG 0.627000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 26 0 0 0.012319 0 0 FANCM 57697 broad.mit.edu 37 14 45633685 45633685 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:45633685C>T ENST00000267430.5 + 10 1790 c.1705C>T c.(1705-1707)Cgt>Tgt p.R569C FANCM_ENST00000556036.1_Missense_Mutation_p.R569C|FANCM_ENST00000542564.2_Missense_Mutation_p.R543C NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 569 Helicase C-terminal. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding p.R569C(1) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 GAGCCCAATTCGTCTTGTACA 0.433000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 12 41 0 0 0.013537 0 0 MUC17 140453 broad.mit.edu 37 7 100682112 100682112 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:100682112A>G ENST00000306151.4 + 3 7479 c.7415A>G c.(7414-7416)gAg>gGg p.E2472G NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2472 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) GTCAGTTCTGAGGCTGGCACC 0.522000 68 186 0 0 0.014410 0 0 RCBTB1 55213 broad.mit.edu 37 13 50140794 50140794 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:50140794G>A ENST00000378302.2 - 4 497 c.237C>T c.(235-237)ctC>ctT p.L79L RCBTB1_ENST00000258646.3_Silent_p.L79L|RCBTB1_ENST00000546015.1_Silent_p.L79L NM_018191.3 NP_060661.3 Q8NDN9 RCBT1_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 79 cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1) 16 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;4.7e-09) TCCCGTAACTGAGGCTTTTAA 0.418000 9 36 0 0 0.008291 0 0 OR5H1 26341 broad.mit.edu 37 3 97851841 97851841 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:97851841G>A ENST00000354565.2 + 1 300 c.300G>A c.(298-300)caG>caA p.Q100Q RP11-343D2.11_ENST00000508964.1_RNA NM_001005338.1 NP_001005338.1 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, member 1 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 GCAAGATACAGTTTTTTTCGT 0.393000 36 109 0 0 0.005524 0 0 NAT1 9 broad.mit.edu 37 8 18080218 18080218 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:18080218C>T ENST00000539092.1 + 5 1353 c.662C>T c.(661-663)tCa>tTa p.S221L NAT1_ENST00000307719.4_Missense_Mutation_p.S221L|NAT1_ENST00000517492.1_Missense_Mutation_p.S221L|NAT1_ENST00000520546.1_Missense_Mutation_p.S221L|NAT1_ENST00000535084.1_Missense_Mutation_p.S221L|NAT1_ENST00000518029.1_Missense_Mutation_p.S221L|NAT1_ENST00000541942.1_Missense_Mutation_p.S221L|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000545197.1_Missense_Mutation_p.S283L NM_001160170.1|NM_001160172.1 NP_001153642.1|NP_001153644.1 P18440 ARY1_HUMAN N-acetyltransferase 1 (arylamine N-acetyltransferase) 221 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1) 9 Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208) ACTAGTAAATCATTTTGTTCC 0.393000 9 38 0 0 0.004482 0 0 SNHG14 104472715 broad.mit.edu 37 15 25429530 25429530 + RNA SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:25429530G>T ENST00000424208.1 + 0 450 SNORD115-8_ENST00000363856.1_RNA NR_003305.1 ATTACGCTGAGGCCCAGCCTA 0.517000 49 133 2.69953e-25 2.9652e-25 0.014410 1 0 CHN1 1123 broad.mit.edu 37 2 175677170 175677170 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:175677170G>A ENST00000409900.3 - 9 1066 c.753C>T c.(751-753)gtC>gtT p.V251V CHN1_ENST00000295497.7_Silent_p.V126V|CHN1_ENST00000409597.1_Silent_p.V67V|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409156.3_Silent_p.V225V NM_001822.5 NP_001813.1 P15882 CHIN_HUMAN chimerin 1 251 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) AGTCATTTGGGACCATCTTGG 0.403000 T TAF15 extraskeletal myxoid chondrosarcoma 13 41 0 0 0.002450 0 0 FSCB 84075 broad.mit.edu 37 14 44974751 44974751 + Silent SNP C C T rs17115207 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:44974751C>T ENST00000340446.4 - 1 1731 c.1440G>A c.(1438-1440)acG>acA p.T480T NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 480 Ala-rich. cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) CAGGAGGCTCCGTAGCTGCTA 0.507000 15 10 0 0 0.007413 0 0 CDCP1 64866 broad.mit.edu 37 3 45127460 45127460 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:45127460C>T ENST00000296129.1 - 9 2315 c.2181G>A c.(2179-2181)aaG>aaA p.K727K NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 727 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) AGTCATTGTCCTTTCGCCCTT 0.502000 32 198 0 0 0.004878 0 0 DSG4 147409 broad.mit.edu 37 18 28989758 28989758 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:28989758G>A ENST00000308128.4 + 14 2259 c.2124G>A c.(2122-2124)cgG>cgA p.R708R DSG4_ENST00000359747.4_Intron|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA NM_177986.3 NP_817123.1 Q86SJ6 DSG4_HUMAN desmoglein 4 708 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CCCAGGATCGGATGGATTCCT 0.328000 14 22 0 0 0.004990 0 0 TMX1 81542 broad.mit.edu 37 14 51716210 51716210 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:51716210G>A ENST00000457354.2 + 6 639 c.514G>A c.(514-516)Gac>Aac p.D172N NM_030755.4 NP_110382.3 Q9H3N1 TMX1_HUMAN thioredoxin-related transmembrane protein 1 172 anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction endoplasmic reticulum membrane|integral to membrane|membrane fraction arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity endometrium(2)|large_intestine(2)|urinary_tract(1) 5 CTTTATTGAAGACCTTGGATT 0.313000 30 162 0 0 0.003271 0 0 XIRP2 129446 broad.mit.edu 37 2 168115079 168115079 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:168115079G>A ENST00000409728.1 + 11 2211 c.2122G>A c.(2122-2124)Gaa>Aaa p.E708K XIRP2_ENST00000409756.2_Missense_Mutation_p.E675K|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.E675K|XIRP2_ENST00000409605.1_Missense_Mutation_p.E453K|XIRP2_ENST00000420519.1_Missense_Mutation_p.E708K|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 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 GGAGAAAAATGAAAAAACTAA 0.343000 5 17 0 0 0.000602 0 0 KIAA1462 57608 broad.mit.edu 37 10 30336586 30336586 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:30336586C>T ENST00000375377.1 - 2 257 c.156G>A c.(154-156)gcG>gcA p.A52A NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 52 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 GTGCGAGGGCCGCAGGGCCAT 0.672000 8 26 0 0 0.008291 0 0 MORC1 27136 broad.mit.edu 37 3 108682324 108682324 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:108682324G>A ENST00000232603.5 - 27 2818 c.2736C>T c.(2734-2736)atC>atT p.I912I MORC1_ENST00000483760.1_Silent_p.I891I NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 912 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 TATCCTCAGAGATTTTTCTTT 0.338000 12 42 0 0 0.001855 0 0 ADAM18 8749 broad.mit.edu 37 8 39495178 39495178 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:39495178G>A ENST00000265707.5 + 9 828 c.783G>A c.(781-783)cgG>cgA p.R261R ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Silent_p.R237R NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 261 Peptidase M12B. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) CATGGAAACGGGACTATCTCA 0.363000 5 31 0 0 0.001168 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140762917 140762917 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140762917C>T ENST00000518325.1 + 1 451 c.451C>T c.(451-453)Cgg>Tgg p.R151W PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_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) TCCTGGGGTTCGGTTTCCGTT 0.473000 9 22 0 0 0.004482 0 0 CCDC150 284992 broad.mit.edu 37 2 197540974 197540974 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:197540974C>T ENST00000389175.4 + 11 1380 c.1245C>T c.(1243-1245)acC>acT p.T415T CCDC150_ENST00000423093.2_Silent_p.T83T|CCDC150_ENST00000472405.2_3'UTR|CCDC150_ENST00000272831.7_Silent_p.T83T NM_001080539.1 NP_001074008.1 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 415 breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 33 ATGAGAAAACCCAACTCCAGG 0.393000 39 114 0 0 0.010771 0 0 ZDBF2 57683 broad.mit.edu 37 2 207171060 207171060 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:207171060G>A ENST00000374423.3 + 5 2194 c.1808G>A c.(1807-1809)aGa>aAa p.R603K NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 603 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 GTCAAAGGAAGAAACCTGAAA 0.403000 9 37 0 0 0.004482 0 0 SYT10 341359 broad.mit.edu 37 12 33535420 33535420 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:33535420G>A ENST00000228567.3 - 5 1530 c.1234C>T c.(1234-1236)Cga>Tga p.R412* SYT10_ENST00000535526.1_Nonsense_Mutation_p.R231* NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 412 C2 2. 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) TTTAATCTTCGACCTTCACAC 0.343000 22 18 0 0 0.003954 0 0 SLIT2 9353 broad.mit.edu 37 4 20598263 20598263 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:20598263G>A ENST00000504154.1 + 32 3798 c.3546G>A c.(3544-3546)acG>acA p.T1182T SLIT2_ENST00000273739.5_Silent_p.T1195T|SLIT2_ENST00000503823.1_Silent_p.T1174T|SLIT2_ENST00000503837.1_Silent_p.T1178T NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1182 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GGCCTCAGACGAACATAACAC 0.383000 11 11 0 0 0.008291 0 0 APOBEC3H 164668 broad.mit.edu 37 22 39497945 39497945 + Missense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:39497945C>A ENST00000442487.3 + 4 568 c.441C>A c.(439-441)aaC>aaA p.N147K APOBEC3H_ENST00000421988.2_Intron|APOBEC3H_ENST00000348946.4_Missense_Mutation_p.N147K|APOBEC3H_ENST00000401756.1_Missense_Mutation_p.N147K NM_181773.3 NP_861438.2 Q6NTF7 ABC3H_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H 147 DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition cytoplasm|nucleus cytidine deaminase activity|zinc ion binding central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 15 Melanoma(58;0.04) GCTGGGAAAACTTTGTGGACC 0.527000 13 53 4.36969e-10 4.77531e-10 0.001855 1 0 IGHV3-20 28445 broad.mit.edu 37 14 106668031 106668031 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:106668031C>T ENST00000390606.2 - 0 64 GCCCAAACTCCATGGCGAGTC 0.507000 22 88 0 0 0.009535 0 0 LAMA1 284217 broad.mit.edu 37 18 6997746 6997746 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:6997746G>A ENST00000389658.3 - 33 4894 c.4801C>T c.(4801-4803)Ctc>Ttc p.L1601F NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1601 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCTACCTGGAGATATTTAGTT 0.428000 10 46 0 0 0.010729 0 0 TCEB3B 51224 broad.mit.edu 37 18 44559744 44559744 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:44559744C>T ENST00000332567.4 - 1 2244 c.1892G>A c.(1891-1893)gGa>gAa p.G631E KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 631 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GGGGTTGTTTCCACGTGCAGA 0.522000 32 85 0 0 0.010818 0 0 NME8 51314 broad.mit.edu 37 7 37916527 37916527 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:37916527C>T ENST00000199447.4 + 12 1284 c.912C>T c.(910-912)ttC>ttT p.F304F NME8_ENST00000440017.1_Silent_p.F304F|EPDR1_ENST00000476620.1_Intron NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 304 cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ATGCTTTCTTCCCCGATTTTA 0.358000 10 22 0 0 0.006214 0 0 OR52L1 338751 broad.mit.edu 37 11 6007702 6007702 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:6007702G>A ENST00000332249.4 - 1 513 c.459C>T c.(457-459)atC>atT p.I153I NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGGATGCAGGATTGTGGAAT 0.502000 16 29 0 0 0.004007 0 0 COPS2 9318 broad.mit.edu 37 15 49437168 49437168 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:49437168G>A ENST00000388901.5 - 2 235 c.162C>T c.(160-162)ttC>ttT p.F54F COPS2_ENST00000542928.1_Intron|COPS2_ENST00000299259.6_Silent_p.F54F NM_001143887.1|NM_004236.3 NP_001137359.1|NP_004227.1 P61201 CSN2_HUMAN COP9 signalosome subunit 2 54 cullin deneddylation|transcription from RNA polymerase II promoter cytoplasm|signalosome protein binding|signal transducer activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2) 18 all_lung(180;0.0428) all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05) AAACCTTTTGGAAACTGCTTA 0.323000 10 40 0 0 0.010729 0 0 MARK1 4139 broad.mit.edu 37 1 220777408 220777408 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:220777408G>A ENST00000402574.1 + 6 1021 c.e6-1 MARK1_ENST00000366917.4_Splice_Site|MARK1_ENST00000366918.4_Splice_Site NM_018650.3 NP_061120.3 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) TTCTGATTCAGGTGAAGTATT 0.323000 9 32 0 0 0.004482 0 0 CDHR4 389118 broad.mit.edu 37 3 49836294 49836294 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:49836294G>A ENST00000343366.4 - 3 558 c.536C>T c.(535-537)tCt>tTt p.S179F CDHR4_ENST00000487256.1_Silent_p.L154L|CDHR4_ENST00000412678.2_Silent_p.L154L A6H8M9 CDHR4_HUMAN cadherin-related family member 4 0 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3) 11 GGGAGGAGCAGAGTGTACAGC 0.592000 5 14 0 0 0.000602 0 0 PTK6 5753 broad.mit.edu 37 20 62163970 62163970 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:62163970G>A ENST00000217185.2 - 5 768 c.741C>T c.(739-741)atC>atT p.I247I PTK6_ENST00000542869.1_Silent_p.I146I NM_005975.3 NP_005966.1 Q13882 PTK6_HUMAN protein tyrosine kinase 6 247 Protein kinase. cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 15 all_cancers(38;2.51e-11) Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06) ACAGCGCCAGGATGTGTTTGT 0.647000 22 40 0 0 0.002780 0 0 TNFRSF18 8784 broad.mit.edu 37 1 1140754 1140754 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:1140754G>A ENST00000379268.2 - 2 425 c.306C>T c.(304-306)tcC>tcT p.S102S TNFRSF18_ENST00000379265.5_Silent_p.S102S|TNFRSF18_ENST00000486728.1_Silent_p.S30S|TNFRSF18_ENST00000328596.6_Silent_p.S102S NM_004195.2|NM_148902.1 NP_004186.1|NP_683700.1 Q9Y5U5 TNR18_HUMAN tumor necrosis factor receptor superfamily, member 18 102 anti-apoptosis|apoptosis extracellular region|integral to plasma membrane tumor necrosis factor receptor activity lung(1) 1 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) ACTTACCCTGGGACTGTACCC 0.652000 10 7 0 0 0.006214 0 0 MTMR3 8897 broad.mit.edu 37 22 30419456 30419456 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:30419456C>T ENST00000333027.3 + 19 3653 c.3325C>T c.(3325-3327)Cgt>Tgt p.R1109C CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Intron|MTMR3_ENST00000323630.5_Intron|MTMR3_ENST00000401950.2_Intron|MTMR3_ENST00000406629.1_Missense_Mutation_p.R1109C NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 1142 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) GGACACTGACCGTGTTGATCA 0.493000 24 43 0 0 0.004656 0 0 RIMBP3 85376 broad.mit.edu 37 22 20458093 20458093 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:20458093C>T ENST00000426804.1 - 1 3693 c.3209G>A c.(3208-3210)gGa>gAa p.G1070E NM_015672.1 NP_056487.1 RIMS binding protein 3 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 13 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) GGACATAGTTCCCCAATACAC 0.662000 5 75 0 0 0.001984 0 0 KLHL38 340359 broad.mit.edu 37 8 124658100 124658100 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:124658100G>A ENST00000325995.7 - 3 1648 c.1625C>T c.(1624-1626)tCc>tTc p.S542F CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 542 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 GCAATCGAAGGAGGCGGAGTC 0.617000 20 62 0 0 0.008871 0 0 RBP1 5947 broad.mit.edu 37 3 139257667 139257667 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:139257667C>T ENST00000483943.2 - 2 394 c.394G>A c.(394-396)Gag>Aag p.E132K RBP1_ENST00000232219.2_Missense_Mutation_p.E132K|RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000492918.1_Missense_Mutation_p.E132K NM_001130993.1 NP_001124465.1 P09455 RET1_HUMAN retinol binding protein 1, cellular 70 cytoplasm retinal binding|retinol binding|transporter activity endometrium(1)|large_intestine(2)|lung(1)|prostate(1) 5 Vitamin A(DB00162) TCCTCAAACTCCTTCCCAACC 0.557000 29 58 0 0 0.006320 0 0 IMPG1 3617 broad.mit.edu 37 6 76751728 76751728 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:76751728G>A ENST00000369950.3 - 2 372 c.183C>T c.(181-183)ttC>ttT p.F61F IMPG1_ENST00000369963.3_Intron NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 61 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity p.F61F(1)|p.F61L(1) breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TTGCCAAATCGAATATTCGTC 0.368000 22 61 0 0 0.012319 0 0 TRAT1 50852 broad.mit.edu 37 3 108568024 108568024 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:108568024G>A ENST00000295756.6 + 5 456 c.226G>A c.(226-228)Gaa>Aaa p.E76K TRAT1_ENST00000426646.1_Missense_Mutation_p.E39K NM_016388.2 NP_057472.2 Q6PIZ9 TRAT1_HUMAN T cell receptor associated transmembrane adaptor 1 76 cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 ACCAATGGATGAAAATTGCTA 0.343000 9 28 0 0 0.004482 0 0 OR51T1 401665 broad.mit.edu 37 11 4903267 4903267 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:4903267G>A ENST00000380378.1 + 1 219 c.219G>A c.(217-219)atG>atA p.M73I MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.M46I NM_001004759.1 NP_001004759.1 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, member 1 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GAAACAGTATGATCTTTCTTG 0.478000 24 95 0 0 0.003330 0 0 SLC22A12 116085 broad.mit.edu 37 11 64359241 64359241 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:64359241C>T ENST00000377574.1 + 1 960 c.213C>T c.(211-213)gcC>gcT p.A71A SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000336464.7_Silent_p.A71A|SLC22A12_ENST00000377572.1_Silent_p.A71A|SLC22A12_ENST00000377567.2_Silent_p.A71A NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 71 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 GTCCTGAGGCCCTCCTGGCTA 0.682000 10 34 0 0 0.013537 0 0 ART1 417 broad.mit.edu 37 11 3681445 3681445 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:3681445C>T ENST00000250693.1 + 3 797 c.696C>T c.(694-696)taC>taT p.Y232Y NM_004314.2 NP_004305.2 P52961 NAR1_HUMAN ADP-ribosyltransferase 1 232 protein ADP-ribosylation anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1) 8 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195) Becaplermin(DB00102) TCAAGGGCTACTCCTTCTTCC 0.597000 9 43 0 0 0.004482 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161019038 161019038 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:161019038C>T ENST00000368013.3 - 12 2093 c.1773G>A c.(1771-1773)ctG>ctA p.L591L ARHGAP30_ENST00000368016.3_Silent_p.L591L|ARHGAP30_ENST00000368015.1_Silent_p.L414L NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 591 L -> V (in dbSNP:rs3813609). regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) CAGCGGAGTCCAGGGAACAGC 0.577000 46 73 0 0 0.014410 0 0 CLEC18B 497190 broad.mit.edu 37 16 74455130 74455130 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:74455130G>A ENST00000339953.5 - 1 160 c.39C>T c.(37-39)ctC>ctT p.L13L NM_001011880.2 NP_001011880.2 Q6UXF7 CL18B_HUMAN C-type lectin domain family 18, member B 13 extracellular region sugar binding endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 GCACAGCCAGGAGATGCCCCC 0.682000 5 56 0 0 0.003080 0 0 FMO4 2329 broad.mit.edu 37 1 171310904 171310904 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:171310904C>T ENST00000367749.3 + 10 1933 c.1603C>T c.(1603-1605)Ctt>Ttt p.L535F NM_002022.1 NP_002013.1 P31512 FMO4_HUMAN flavin containing monooxygenase 4 535 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TAAATCTTCACTTTTCTTGAA 0.438000 12 20 0 0 0.013537 0 0 RASEF 158158 broad.mit.edu 37 9 85613319 85613319 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:85613319C>T ENST00000376447.3 - 13 2026 c.1766G>A c.(1765-1767)cGa>cAa p.R589Q NM_152573.2 NP_689786.2 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 589 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 CAGAACTGTTCGTTCTCCATC 0.468000 29 105 0 0 0.010818 0 0 FLG2 388698 broad.mit.edu 37 1 152327908 152327908 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:152327908T>A ENST00000388718.5 - 3 2426 c.2354A>T c.(2353-2355)cAa>cTa p.Q785L FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 785 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) AGACCCATGTTGGCCATAGCC 0.507000 78 209 0 0 0.014410 0 0 KALRN 8997 broad.mit.edu 37 3 124351433 124351433 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:124351433G>A ENST00000360013.3 + 35 5470 c.5343G>A c.(5341-5343)ggG>ggA p.G1781G KALRN_ENST00000291478.4_Silent_p.G84G|KALRN_ENST00000393496.1_Silent_p.G154G|KALRN_ENST00000428018.2_Silent_p.G84G NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1781 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 TTAACAGCGGGAAGGCAGATG 0.557000 19 44 0 0 0.010504 0 0 HTR4 3360 broad.mit.edu 37 5 147900484 147900484 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:147900484C>T ENST00000362016.2 - 6 713 c.e6+1 HTR4_ENST00000521735.1_Intron|HTR4_ENST00000520514.1_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000377888.3_Intron|HTR4_ENST00000360693.3_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000314512.6_Intron|HTR4_ENST00000517929.1_Intron Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) TTCTGACATACCGCATGAAAA 0.438000 13 34 0 0 0.004007 0 0 MYO1A 4640 broad.mit.edu 37 12 57423348 57423348 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:57423348C>T ENST00000442789.2 - 27 3035 c.2748G>A c.(2746-2748)ctG>ctA p.L916L MYO1A_ENST00000544473.1_Silent_p.L754L|MYO1A_ENST00000300119.3_Silent_p.L916L NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 916 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 GGCCCTTGGTCAGGAGGAGAA 0.552000 33 18 0 0 0.012213 0 0 FAM65C 140876 broad.mit.edu 37 20 49218764 49218764 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:49218764C>T ENST00000327979.2 - 13 1903 c.1492G>A c.(1492-1494)Gag>Aag p.E498K FAM65C_ENST00000535356.1_Missense_Mutation_p.E502K|FAM65C_ENST00000045083.2_Missense_Mutation_p.E498K Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 498 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCCCCTTCCTCGTGGCCGTTC 0.682000 7 19 0 0 0.004482 0 0 BEGAIN 57596 broad.mit.edu 37 14 101005161 101005161 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:101005161C>T ENST00000556751.1 - 5 4139 c.735G>A c.(733-735)gaG>gaA p.E245E BEGAIN_ENST00000355173.2_Silent_p.E309E|BEGAIN_ENST00000443071.2_Silent_p.E309E Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 309 cytoplasm|membrane protein binding cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1) 14 Melanoma(154;0.212) CGTGCTCCTTCTCCTCCGACG 0.682000 10 17 0 0 0.010729 0 0 TTN 7273 broad.mit.edu 37 2 179612236 179612236 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179612236G>A ENST00000360870.5 - 46 15113 c.14891C>T c.(14890-14892)tCt>tTt p.S4964F TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1081 Ig-like 30. 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) AGACTCAGGAGAAAGTGGACG 0.393000 23 49 0 0 0.014323 0 0 CDH11 1009 broad.mit.edu 37 16 65022165 65022165 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:65022165T>C ENST00000394156.3 - 7 1347 c.894A>G c.(892-894)ggA>ggG p.G298G CDH11_ENST00000566827.1_Silent_p.G172G|CDH11_ENST00000268603.4_Silent_p.G298G P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 298 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) AGCCATTTTCTCCAATGTCTG 0.443000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 32 65 0 0 0.008361 0 0 MYO5B 4645 broad.mit.edu 37 18 47488650 47488650 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:47488650C>T ENST00000285039.7 - 12 1830 c.1531G>A c.(1531-1533)Gat>Aat p.D511N NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 511 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CATTCTTCATCCAACAGGTCC 0.388000 31 36 0 0 0.013726 0 0 PIANP 196500 broad.mit.edu 37 12 6806555 6806555 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:6806555G>A ENST00000534837.1 - 3 650 c.421C>T c.(421-423)Cca>Tca p.P141S PIANP_ENST00000320591.5_Missense_Mutation_p.P141S|PIANP_ENST00000540656.1_Missense_Mutation_p.P141S NM_001244014.1 NP_001230943.1 PILR alpha associated neural protein TTGGGGTGTGGGGTTGCGAGC 0.622000 6 40 0 0 0.003080 0 0 SND1 27044 broad.mit.edu 37 7 127714631 127714631 + Silent SNP C C T rs138799870 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:127714631C>T ENST00000354725.3 + 17 2051 c.1857C>T c.(1855-1857)tcC>tcT p.S619S NM_014390.2 NP_055205.2 Q7KZF4 SND1_HUMAN staphylococcal nuclease and tudor domain containing 1 619 TNase-like 4. gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 CCAACCTGTCCGTCCTGCTGG 0.617000 11 20 0 0 0.010729 0 0 UNC5A 90249 broad.mit.edu 37 5 176306320 176306320 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:176306320T>C ENST00000329542.4 + 14 2468 c.2194T>C c.(2194-2196)Ttt>Ctt p.F732L UNC5A_ENST00000261961.3_Missense_Mutation_p.F692L NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 732 apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGACACAAGGTTTGCTGAGCT 0.622000 28 70 0 0 0.006320 0 0 DRD1 1812 broad.mit.edu 37 5 174869920 174869920 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:174869920G>A ENST00000393752.2 - 2 1175 c.183C>T c.(181-183)ttC>ttT p.F61F NM_000794.3 NP_000785.1 P21728 DRD1_HUMAN dopamine receptor D1 61 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) AGATGACAAAGAAGTTGGTCA 0.582000 5 22 0 0 0.000602 0 0 DCLK3 85443 broad.mit.edu 37 3 36759619 36759619 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:36759619G>A ENST00000416516.2 - 4 2125 c.1635C>T c.(1633-1635)atC>atT p.I545I DCLK3_ENST00000498047.1_5'UTR NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 545 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity p.I545I(1) breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 CACACAGCAGGATATAGAGGA 0.572000 48 89 0 0 0.014410 0 0 AK9 221264 broad.mit.edu 37 6 109996915 109996915 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:109996915A>G ENST00000424296.2 - 2 110 c.34T>C c.(34-36)Ttt>Ctt p.F12L AK9_ENST00000285397.5_Missense_Mutation_p.F12L|AK9_ENST00000368948.2_Missense_Mutation_p.F12L|AK9_ENST00000341338.6_5'UTR NM_001145128.2 NP_001138600.2 adenylate kinase 9 ATATCTGCAAAAGGATACTCT 0.328000 8 45 0 0 0.003080 0 0 CDH18 1016 broad.mit.edu 37 5 19483609 19483609 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:19483609C>T ENST00000507958.1 - 14 2673 c.1683G>A c.(1681-1683)caG>caA p.Q561Q CDH18_ENST00000382275.1_Silent_p.Q561Q|CDH18_ENST00000274170.4_Silent_p.Q561Q|CDH18_ENST00000506372.1_Intron|CDH18_ENST00000502796.1_Intron Q13634 CAD18_HUMAN cadherin 18, type 2 561 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) AATACACATCCTGAACAGTTC 0.463000 3 18 0 0 0.004672 0 0 NCAM2 4685 broad.mit.edu 37 21 22804491 22804491 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr21:22804491C>T ENST00000400546.1 + 12 1793 c.1544C>T c.(1543-1545)tCc>tTc p.S515F NCAM2_ENST00000284894.7_Missense_Mutation_p.S373F NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 515 Fibronectin type-III 1. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) GCCAAGGTTTCCTTCAACAAA 0.453000 19 17 0 0 0.014323 0 0 ATP2A2 488 broad.mit.edu 37 12 110782763 110782763 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:110782763C>T ENST00000395494.2 + 16 3076 c.2513C>T c.(2512-2514)tCc>tTc p.S838F ATP2A2_ENST00000308664.6_Missense_Mutation_p.S865F|ATP2A2_ENST00000539276.2_Missense_Mutation_p.S865F P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 865 A -> P (in DD; severe form; petit mal epilepsy). ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 CCAAGAGTGTCCTTCTACCAG 0.502000 46 22 0 0 0.014410 0 0 LAMA3 3909 broad.mit.edu 37 18 21508698 21508698 + Missense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:21508698C>A ENST00000313654.9 + 64 8646 c.8405C>A c.(8404-8406)cCc>cAc p.P2802H LAMA3_ENST00000399516.3_Missense_Mutation_p.P2746H|LAMA3_ENST00000269217.6_Missense_Mutation_p.P1193H|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.P1137H NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2802 Laminin G-like 3. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCTTTCAACCCAGTGGCATA 0.408000 12 43 0.00010058 0.000109005 0.013537 1 0 CYP4B1 1580 broad.mit.edu 37 1 47279266 47279266 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:47279266G>A ENST00000271153.4 + 5 644 c.608G>A c.(607-609)gGc>gAc p.G203D CYP4B1_ENST00000452782.2_Missense_Mutation_p.G40D|CYP4B1_ENST00000371919.4_Missense_Mutation_p.G188D|CYP4B1_ENST00000371923.4_Missense_Mutation_p.G203D P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 203 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) GGAGACACCGGCCTGGGCCAC 0.582000 10 30 0 0 0.010729 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735094 55735094 + Silent SNP G G A rs139711848 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:55735094G>A ENST00000312345.2 - 1 896 c.846C>T c.(844-846)acC>acT p.T282T NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) TGTTCCTCAGGGTATATATAA 0.328000 20 22 0 0 0.008871 0 0 ZNF208 7757 broad.mit.edu 37 19 22157127 22157127 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:22157127C>T ENST00000397126.4 - 4 857 c.709G>A c.(709-711)Gcc>Acc p.A237T ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TTACTAAAGGCTTTGCCACAT 0.383000 15 26 0 0 0.003163 0 0 DEPDC5 9681 broad.mit.edu 37 22 32215147 32215147 + Silent SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:32215147T>A ENST00000400246.1 + 22 1948 c.1806T>A c.(1804-1806)gcT>gcA p.A602A DEPDC5_ENST00000382111.2_Silent_p.A602A|DEPDC5_ENST00000266091.3_Silent_p.A602A|DEPDC5_ENST00000536766.1_Silent_p.A574A|DEPDC5_ENST00000382105.2_Silent_p.A602A|DEPDC5_ENST00000535622.1_Silent_p.A602A|DEPDC5_ENST00000400249.2_Silent_p.A602A|DEPDC5_ENST00000382112.3_Silent_p.A602A|DEPDC5_ENST00000400248.1_Silent_p.A602A O75140 DEPD5_HUMAN DEP domain containing 5 602 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 ACCCCTTCGCTCCCTCTCGGA 0.547000 37 38 0 0 0.007835 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20571850 20571850 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:20571850G>A ENST00000202677.6 - 17 2454 c.2312C>T c.(2311-2313)cCc>cTc p.P771L NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 771 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 CAGCGGCTCGGGGATGTCGGA 0.502000 13 60 0 0 0.007413 0 0 TCTN3 26123 broad.mit.edu 37 10 97423933 97423933 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:97423933G>A ENST00000265993.8 - 14 1958 c.1715C>T c.(1714-1716)cCc>cTc p.P572L TCTN3_ENST00000430368.1_Missense_Mutation_p.P424L|TCTN3_ENST00000371217.4_Missense_Mutation_p.P585L NM_015631.5 NP_056446.4 Q6NUS6 TECT3_HUMAN tectonic family member 3 572 apoptosis integral to membrane breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1) 15 Colorectal(252;0.0815) Epithelial(162;1.69e-07)|all cancers(201;5.63e-06) CACTTTGAAGGGAAAGAAGTC 0.468000 52 153 0 0 0.014410 0 0 HRNR 388697 broad.mit.edu 37 1 152187579 152187579 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:152187579C>T ENST00000368801.2 - 3 6601 c.6526G>A c.(6526-6528)Ggg>Agg p.G2176R FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2176 keratinization calcium ion binding|protein binding p.G2176W(1) 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) GATCCAGACCCTTGTCGGCCG 0.632000 18 418 0 0 0.008361 0 0 WDR3 10885 broad.mit.edu 37 1 118497969 118497969 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:118497969G>A ENST00000349139.4 + 24 2488 c.2441G>A c.(2440-2442)gGg>gAg p.G814E SPAG17_ENST00000336338.5_Intron NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 814 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) ATTTTTAAAGGGATCAAGTCG 0.333000 9 34 0 0 0.008291 0 0 IGSF9 57549 broad.mit.edu 37 1 159898389 159898389 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:159898389G>A ENST00000368094.1 - 19 2986 c.2789C>T c.(2788-2790)cCc>cTc p.P930L IGSF9_ENST00000361509.3_Missense_Mutation_p.P914L|IGSF9_ENST00000493195.1_5'UTR NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 930 Pro-rich. cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) TCGGAAGAAGGGCAGGCTCAG 0.647000 4 16 0 0 0.009096 0 0 NR3C1 2908 broad.mit.edu 37 5 142779718 142779718 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:142779718C>T ENST00000343796.2 - 2 1680 c.687G>A c.(685-687)gcG>gcA p.A229A NR3C1_ENST00000394466.2_Silent_p.A229A|NR3C1_ENST00000394464.2_Silent_p.A229A|NR3C1_ENST00000504572.1_Silent_p.A229A|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000415690.2_Silent_p.A229A|NR3C1_ENST00000424646.2_Silent_p.A229A|NR3C1_ENST00000231509.3_Silent_p.A229A|NR3C1_ENST00000503201.1_Silent_p.A229A NM_001018074.1|NM_001018075.1|NM_001018077.1 NP_001018084.1|NP_001018085.1|NP_001018087.1 P04150 GCR_HUMAN nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 229 Modulating. chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter mitochondrial matrix|nucleoplasm glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 35 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635) CGTCTTCTCCCGCCAGAGGAG 0.438000 15 47 0 0 0.002450 0 0 ABCA12 26154 broad.mit.edu 37 2 215819948 215819948 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:215819948G>A ENST00000272895.7 - 43 6590 c.6371C>T c.(6370-6372)tCc>tTc p.S2124F ABCA12_ENST00000389661.4_Missense_Mutation_p.S1806F|AC072062.1_ENST00000607412.1_RNA NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 2124 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity p.S2124F(1) NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CTTTTCCTTGGAAAGAAAGTA 0.368000 9 24 0 0 0.004482 0 0 OR8I2 120586 broad.mit.edu 37 11 55860916 55860916 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:55860916C>T ENST00000302124.2 + 1 164 c.133C>T c.(133-135)Ctg>Ttg p.L45L OR8I2_ENST00000560768.1_Silent_p.L45L Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) AAACCTGGGACTGATCACGTT 0.373000 43 89 0 0 0.014410 0 0 OR13C4 138804 broad.mit.edu 37 9 107288831 107288831 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:107288831G>A ENST00000277216.3 - 1 659 c.660C>T c.(658-660)ttC>ttT p.F220F NM_001001919.1 NP_001001919.1 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, member 4 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 TGTAGAGGATGAACATATAGG 0.408000 27 47 0 0 0.005443 0 0 PDCD11 22984 broad.mit.edu 37 10 105162877 105162877 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:105162877C>T ENST00000369797.3 + 4 331 c.237C>T c.(235-237)tcC>tcT p.S79S NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 79 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) TCTTCTAGTCCCTGTGTGAGG 0.443000 34 91 0 0 0.003755 0 0 MCTP2 55784 broad.mit.edu 37 15 94927293 94927293 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:94927293G>A ENST00000357742.4 + 12 1625 c.1625G>A c.(1624-1626)cGa>cAa p.R542Q MCTP2_ENST00000451018.3_Missense_Mutation_p.R542Q|MCTP2_ENST00000331706.4_Missense_Mutation_p.R130Q|MCTP2_ENST00000557742.1_Missense_Mutation_p.R130Q NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 542 C2 3. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) GGCAATGACCGACTTCAGACG 0.433000 5 13 0 0 0.001984 0 0 OTX2 5015 broad.mit.edu 37 14 57268471 57268471 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:57268471C>T ENST00000339475.5 - 5 1152 c.876G>A c.(874-876)tgG>tgA p.W292* OTX2_ENST00000555006.1_Nonsense_Mutation_p.W284*|OTX2_ENST00000408990.3_Nonsense_Mutation_p.W284* NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3 NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1 P32243 OTX2_HUMAN orthodenticle homeobox 2 284 axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway growth cone|nucleus|protein complex eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 19 Medulloblastoma(1;0.00184)|all_neural(1;0.00414) CCTGGAATTTCCACGAGGATG 0.408000 5 51 0 0 0.001168 0 0 IRS2 8660 broad.mit.edu 37 13 110436665 110436665 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:110436665G>A ENST00000375856.3 - 1 2250 c.1736C>T c.(1735-1737)aCc>aTc p.T579I NM_003749.2 NP_003740.2 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 579 fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 19 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) GGCTGGCGTGGTCAGGGAGTA 0.731000 13 9 0 0 0.001855 0 0 ITSN2 50618 broad.mit.edu 37 2 24522854 24522854 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:24522854T>A ENST00000355123.4 - 12 1711 c.1268A>T c.(1267-1269)gAa>gTa p.E423V ITSN2_ENST00000406921.3_Missense_Mutation_p.E423V|ITSN2_ENST00000361999.3_Missense_Mutation_p.E423V NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 423 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TAAGCGTTTTTCTAATTCAAG 0.383000 13 78 0 0 0.001855 0 0 KIAA1407 57577 broad.mit.edu 37 3 113772444 113772444 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:113772444C>T ENST00000295878.3 - 2 275 c.129_splice c.e2+1 p.K43_splice KIAA1407_ENST00000545063.1_Intron|KIAA1407_ENST00000480588.1_5'UTR NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 43 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 ATATCCTTACCTTTATCCAGT 0.323000 3 17 0 0 0.009096 0 0 SVEP1 79987 broad.mit.edu 37 9 113189870 113189870 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:113189870C>T ENST00000401783.2 - 36 6312 c.e36+1 SVEP1_ENST00000297826.5_Splice_Site|SVEP1_ENST00000374469.1_Splice_Site NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 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 GCCCTACTCACCCTTCTTTGC 0.483000 OREG0019389 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 71 0 0 0.004007 0 0 TTLL8 164714 broad.mit.edu 37 22 50483717 50483717 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:50483717C>T ENST00000266182.6 - 6 609 c.610G>A c.(610-612)Gag>Aag p.E204K TTLL8_ENST00000440475.1_Missense_Mutation_p.E204K tubulin tyrosine ligase-like family, member 8 NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4) 12 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) CTCCCGGCCTCCTCCCTCTGG 0.697000 6 13 0 0 0.001984 0 0 ELFN2 114794 broad.mit.edu 37 22 37770345 37770345 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:37770345G>A ENST00000402918.1 - 3 2015 c.1230C>T c.(1228-1230)atC>atT p.I410I ELFN2_ENST00000349653.3_Silent_p.I410I|RP1-63G5.5_ENST00000430883.1_RNA NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 410 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) CTCCCAGCACGATAACCATGC 0.612000 15 60 0 0 0.006122 0 0 NME8 51314 broad.mit.edu 37 7 37889893 37889893 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:37889893C>T ENST00000199447.4 + 3 397 c.25C>T c.(25-27)Cag>Tag p.Q9* NME8_ENST00000440017.1_Nonsense_Mutation_p.Q9*|EPDR1_ENST00000476620.1_Intron NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 9 Thioredoxin. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ACGAGAAGTCCAGTTACAGGT 0.333000 59 90 0 0 0.014410 0 0 PLG 5340 broad.mit.edu 37 6 161143527 161143527 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:161143527G>A ENST00000308192.9 + 10 1247 c.1184G>A c.(1183-1185)gGa>gAa p.G395E NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 395 Kringle 4. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) ACCACCACAGGAAAGAAGTGT 0.493000 17 32 0 0 0.006122 0 0 TBXAS1 6916 broad.mit.edu 37 7 139715636 139715636 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:139715636G>A ENST00000263552.6 + 15 1881 c.1343G>A c.(1342-1344)aGc>aAc p.S448N TBXAS1_ENST00000458722.1_Missense_Mutation_p.S493N|TBXAS1_ENST00000436047.2_Missense_Mutation_p.S448N|TBXAS1_ENST00000411653.1_Missense_Mutation_p.S447N|TBXAS1_ENST00000336425.5_Missense_Mutation_p.S447N|TBXAS1_ENST00000425687.1_Missense_Mutation_p.S380N|TBXAS1_ENST00000448866.1_Missense_Mutation_p.S447N|TBXAS1_ENST00000414508.2_Missense_Mutation_p.S448N|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000416849.2_Missense_Mutation_p.S494N NM_001130966.2 NP_001124438.1 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 447 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) CACTGGCCAAGCCCGGAGACC 0.592000 17 38 0 0 0.010504 0 0 ZNF70 7621 broad.mit.edu 37 22 24086478 24086478 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:24086478G>A ENST00000341976.3 - 2 1310 c.850C>T c.(850-852)Ctc>Ttc p.L284F NM_021916.2 NP_068735.1 Q9UC06 ZNF70_HUMAN zinc finger protein 70 284 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.L284V(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 21 TTCCCACAGAGATCGCACTCG 0.517000 15 43 0 0 0.004007 0 0 CASR 846 broad.mit.edu 37 3 121981057 121981057 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:121981057G>A ENST00000498619.1 + 4 1613 c.1175G>A c.(1174-1176)cGa>cAa p.R392Q CASR_ENST00000296154.5_Missense_Mutation_p.R392Q|CASR_ENST00000490131.1_Missense_Mutation_p.R392Q NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 392 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) ACAGCCTTCCGACCCCTCTGT 0.493000 18 22 0 0 0.007413 0 0 GDAP1L1 78997 broad.mit.edu 37 20 42891969 42891969 + Splice_Site SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:42891969T>C ENST00000342560.5 + 4 733 c.e4+2 GDAP1L1_ENST00000537864.1_Splice_Site NM_001256737.1|NM_024034.4 NP_001243666.1|NP_076939.3 Q96MZ0 GD1L1_HUMAN ganglioside induced differentiation associated protein 1-like 1 endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1) 18 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) AAGCTCATGGTGAGTACCTCC 0.498000 31 65 0 0 0.008361 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58189923 58189923 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:58189923C>T ENST00000318203.5 + 5 1649 c.952C>T c.(952-954)Ccc>Tcc p.P318S NM_152677.2 NP_689890.1 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 318 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1) 30 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGAAGAATGCCCCAAGGTCTT 0.448000 17 45 0 0 0.007413 0 0 NTRK1 4914 broad.mit.edu 37 1 156843534 156843534 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:156843534C>T ENST00000368196.3 + 8 1080 c.960C>T c.(958-960)tcC>tcT p.S320S NTRK1_ENST00000358660.3_Silent_p.S320S|NTRK1_ENST00000524377.1_Silent_p.S320S|NTRK1_ENST00000392302.2_Silent_p.S290S NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 320 Ig-like C2-type 2. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) TCAATGGCTCCGTGCTCAATG 0.632000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 7 13 0 0 0.001984 0 0 SCN7A 6332 broad.mit.edu 37 2 167319026 167319026 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:167319026C>T ENST00000409855.1 - 9 1082 c.956G>A c.(955-957)gGa>gAa p.G319E NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 319 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 ACACACATATCCTTCAGGACA 0.378000 5 15 0 0 0.004482 0 0 CDH5 1003 broad.mit.edu 37 16 66423412 66423412 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:66423412C>T ENST00000341529.3 + 5 916 c.768C>T c.(766-768)ccC>ccT p.P256P CDH5_ENST00000563425.2_Silent_p.P256P NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 256 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) ACAACTTCCCCTTCTTCACCC 0.607000 12 35 0 0 0.002450 0 0 CACNA1E 777 broad.mit.edu 37 1 181705431 181705431 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:181705431G>A ENST00000526775.1 + 21 3391 c.3226G>A c.(3226-3228)Gaa>Aaa p.E1076K CACNA1E_ENST00000367567.4_Missense_Mutation_p.E702K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1095K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1027K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1076K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1046K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E1095K NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1095 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GACGGATGGGGAAGCCAGTCC 0.483000 3 9 0 0 0.004672 0 0 FUT8 2530 broad.mit.edu 37 14 66208857 66208857 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:66208857C>T ENST00000360689.5 + 11 3184 c.1457C>T c.(1456-1458)gCc>gTc p.A486V FUT8_ENST00000394585.1_Missense_Mutation_p.A486V|FUT8_ENST00000358307.2_Missense_Mutation_p.A357V|FUT8_ENST00000557164.1_Missense_Mutation_p.A323V|FUT8_ENST00000417683.1_Missense_Mutation_p.A80V|FUT8_ENST00000394586.2_Missense_Mutation_p.A486V NM_004480.4|NM_178155.2 NP_004471.4|NP_835368.1 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 (alpha (1,6) fucosyltransferase) 486 in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) CATCCTGATGCCTCTGCAAAC 0.398000 9 78 0 0 0.006214 0 0 TDRD6 221400 broad.mit.edu 37 6 46660326 46660326 + Silent SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:46660326T>A ENST00000544460.1 + 1 4715 c.4461T>A c.(4459-4461)ctT>ctA p.L1487L TDRD6_ENST00000316081.6_Silent_p.L1487L NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1487 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) AAGTAGAACTTTCTACCCAAG 0.343000 25 44 0 0 0.003954 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110450259 110450259 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:110450259C>T ENST00000260283.4 - 16 3695 c.3411G>A c.(3409-3411)atG>atA p.M1137I ARHGAP20_ENST00000357139.3_Missense_Mutation_p.M1111I|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.M1101I|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.M1111I|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.M1114I|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.M680I|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.M1101I NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 1137 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) CATGTGACTTCATGCACAGCT 0.522000 10 55 0 0 0.008291 0 0 VWC2L 402117 broad.mit.edu 37 2 215278933 215278933 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:215278933C>T ENST00000312504.5 + 2 818 c.16C>T c.(16-18)Cat>Tat p.H6Y AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_Missense_Mutation_p.H6Y NM_001080500.2 NP_001073969.1 B2RUY7 VWC2L_HUMAN von Willebrand factor C domain containing protein 2-like 6 extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1) 16 TCTTCATATTCATGAAGCTTG 0.458000 26 42 0 0 0.010818 0 0 CEP135 9662 broad.mit.edu 37 4 56837483 56837483 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:56837483C>T ENST00000257287.4 + 10 1282 c.1158C>T c.(1156-1158)ctC>ctT p.L386L NM_025009.4 NP_079285.2 Q66GS9 CP135_HUMAN centrosomal protein 135kDa 386 centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 50 Glioma(25;0.08)|all_neural(26;0.101) GTGATGAACTCCTTGTAAAAT 0.303000 5 15 0 0 0.001984 0 0 CLDN18 51208 broad.mit.edu 37 3 137749972 137749972 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:137749972G>A ENST00000183605.5 + 5 1001 c.775G>A c.(775-777)Gac>Aac p.D259N CLDN18_ENST00000343735.4_Missense_Mutation_p.D259N NM_016369.3 NP_057453.1 P56856 CLD18_HUMAN claudin 18 259 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 6 TTCCAAGCACGACTATGTGTA 0.493000 13 48 0 0 0.002450 0 0 SLC26A3 1811 broad.mit.edu 37 7 107430122 107430122 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:107430122C>T ENST00000340010.5 - 6 766 c.582G>A c.(580-582)ggG>ggA p.G194G SLC26A3_ENST00000422236.2_Silent_p.G159G NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 194 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 TCCGCAGAATCCCAAAAGCCA 0.418000 4 13 0 0 0.000602 0 0 CELF5 60680 broad.mit.edu 37 19 3293399 3293399 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:3293399C>T ENST00000292672.2 + 12 1450 c.1413C>T c.(1411-1413)ctC>ctT p.L471L CELF5_ENST00000541430.2_3'UTR NM_021938.3 NP_068757.2 Q8N6W0 CELF5_HUMAN CUGBP, Elav-like family member 5 471 RRM 3. mRNA processing cytoplasm|nucleus nucleotide binding|RNA binding kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1) 13 TGAAGAGGCTCAAAGTCCAGC 0.652000 12 37 0 0 0.010729 0 0 ZBED2 79413 broad.mit.edu 37 3 111313022 111313022 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:111313022C>T ENST00000317012.4 - 2 1035 c.27G>A c.(25-27)gaG>gaA p.E9E CD96_ENST00000352690.4_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000438817.2_Intron NM_024508.4 NP_078784.2 Q9BTP6 ZBED2_HUMAN zinc finger, BED-type containing 2 9 DNA binding|metal ion binding large_intestine(3)|lung(1)|skin(2) 6 TTGTTCCCTCCTCTTCCTCGT 0.453000 15 39 0 0 0.004990 0 0 C4BPA 722 broad.mit.edu 37 1 207300216 207300216 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:207300216C>T ENST00000367070.3 + 7 1059 c.865C>T c.(865-867)Cct>Tct p.P289S NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 289 Sushi 4. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 CAAATGGAATCCTTCTCCTCC 0.403000 13 42 0 0 0.004007 0 0 KCNJ1 3758 broad.mit.edu 37 11 128709249 128709249 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:128709249G>A ENST00000392665.2 - 2 1034 c.890C>T c.(889-891)cCa>cTa p.P297L KCNJ1_ENST00000440599.2_Missense_Mutation_p.P297L|KCNJ1_ENST00000392666.1_Missense_Mutation_p.P297L|KCNJ1_ENST00000392664.2_Missense_Mutation_p.P316L|KCNJ1_ENST00000324036.3_Missense_Mutation_p.P297L NM_153764.2 NP_722448.1 P48048 IRK1_HUMAN potassium inwardly-rectifying channel, subfamily J, member 1 316 excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1) 23 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) CACCTCCTCTGGGACATAGGA 0.498000 11 11 0 0 0.008291 0 0 SLC9A3 6550 broad.mit.edu 37 5 482666 482666 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:482666G>A ENST00000264938.3 - 7 1362 c.1353C>T c.(1351-1353)ttC>ttT p.F451F SLC9A3_ENST00000514375.1_Silent_p.F451F NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 451 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) GCCTCACCTGGAAGATGACGG 0.622000 17 44 0 0 0.012319 0 0 PRRG4 79056 broad.mit.edu 37 11 32874863 32874863 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:32874863G>A ENST00000257836.3 + 6 724 c.471G>A c.(469-471)agG>agA p.R157R NM_024081.5 NP_076986.1 Q9BZD6 TMG4_HUMAN proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane) 157 extracellular region|Golgi apparatus|integral to membrane calcium ion binding large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 7 Breast(20;0.206) TCTATGAAAGGGGGAGGCACA 0.458000 4 86 0 0 0.000602 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33012862 33012862 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:33012862G>A ENST00000357505.6 - 8 2221 c.2117C>T c.(2116-2118)cCt>cTt p.P706L N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.P624L|N4BP2L2_ENST00000504114.1_Missense_Mutation_p.P706L|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.P721L NM_001278432.1 NP_001265361.1 Q92802 N42L2_HUMAN NEDD4 binding protein 2-like 2 0 kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1) 16 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) ATAGTCATCAGGCAACAAGGA 0.403000 6 6 0 0 0.003080 0 0 STK19 8859 broad.mit.edu 37 6 31940123 31940123 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:31940123G>A ENST00000375331.2 + 2 431 c.265G>A c.(265-267)Gac>Aac p.D89N STK19_ENST00000375333.2_Missense_Mutation_p.D89N NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 89 D -> N (in a metastatic melanoma sample; somatic mutation). nucleus ATP binding|protein binding|protein serine/threonine kinase activity p.D89N(4) skin(5)|upper_aerodigestive_tract(2) 7 TGCGCCGGAAGACCCTATTTT 0.582000 32 81 0 0 0.003271 0 0 NR6A1 2649 broad.mit.edu 37 9 127316765 127316765 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:127316765G>A ENST00000487099.2 - 3 384 c.227C>T c.(226-228)tCc>tTc p.S76F NR6A1_ENST00000416460.2_Missense_Mutation_p.S72F|NR6A1_ENST00000373584.3_Missense_Mutation_p.S72F|NR6A1_ENST00000344523.4_Missense_Mutation_p.S76F NM_001278546.1 NP_001265475.1 Q15406 NR6A1_HUMAN nuclear receptor subfamily 6, group A, member 1 76 cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 17 GCCCTCACAGGAGATGATCCC 0.493000 26 52 0 0 0.008361 0 0 MSR1 4481 broad.mit.edu 37 8 16007784 16007784 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:16007784C>T ENST00000350896.3 - 7 1132 c.935G>A c.(934-936)gGc>gAc p.G312D MSR1_ENST00000262101.5_Missense_Mutation_p.G312D|MSR1_ENST00000445506.2_Missense_Mutation_p.G330D|MSR1_ENST00000536385.1_Missense_Mutation_p.G86D|MSR1_ENST00000355282.2_Missense_Mutation_p.G312D|MSR1_ENST00000381998.4_Missense_Mutation_p.G312D NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 312 Collagen-like. cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) TCCAGGAAAGCCAATTGCTCC 0.378000 11 35 0 0 0.003163 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558648 113558648 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:113558648G>A ENST00000284601.3 - 1 472 c.404C>T c.(403-405)tCt>tTt p.S135F NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 135 CBM21. 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 CCCAAGAAGAGACTCAGTTGA 0.363000 15 48 0 0 0.004990 0 0 GNAS 2778 broad.mit.edu 37 20 57429085 57429085 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:57429085C>T ENST00000306120.3 + 1 575 c.575C>T c.(574-576)tCg>tTg p.S192L GNAS_ENST00000371098.2_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371099.2_Silent_p.F255F|GNAS_ENST00000371100.4_Silent_p.F255F|GNAS_ENST00000371102.4_Silent_p.F255F|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron P63092 GNAS2_HUMAN GNAS complex locus 0 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GCAGCCAGTTCGCGGCAGTCG 0.662000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 8 12 0 0 0.004482 0 0 NRP1 8829 broad.mit.edu 37 10 33502446 33502446 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:33502446G>A ENST00000265371.4 - 10 2007 c.1482C>T c.(1480-1482)atC>atT p.I494I NRP1_ENST00000374823.5_Silent_p.I494I|NRP1_ENST00000374822.4_Silent_p.I494I|NRP1_ENST00000395995.1_Silent_p.I494I|NRP1_ENST00000466932.1_5'UTR|NRP1_ENST00000374867.2_Silent_p.I494I|NRP1_ENST00000374816.3_Silent_p.I494I|NRP1_ENST00000374821.5_Silent_p.I494I|RP11-342D11.2_ENST00000451530.1_RNA O14786 NRP1_HUMAN neuropilin 1 494 F5/8 type C 2. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) TGCCCCTCACGATCTTCTCCT 0.547000 16 54 0 0 0.004990 0 0 EPPK1 83481 broad.mit.edu 37 8 144940440 144940440 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:144940440C>T ENST00000525985.1 - 2 7053 c.6982G>A c.(6982-6984)Gac>Aac p.D2328N P58107 EPIPL_HUMAN epiplakin 1 2328 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACGATGAGGTCCTTCTGCATG 0.692000 14 248 0 0 0.012319 0 0 NEFH 4744 broad.mit.edu 37 22 29886024 29886024 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:29886024G>A ENST00000310624.6 + 4 2428 c.2395G>A c.(2395-2397)Gcg>Acg p.A799T NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 805 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 CCCAGAGAAGGCGAAATCTCC 0.557000 15 16 0 0 0.002450 0 0 FAM131B 9715 broad.mit.edu 37 7 143053835 143053835 + Silent SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:143053835T>A ENST00000409408.1 - 6 2515 c.807A>T c.(805-807)gcA>gcT p.A269A FAM131B_ENST00000409222.3_Silent_p.A269A|FAM131B_ENST00000409346.1_Silent_p.A269A|FAM131B_ENST00000409578.1_Silent_p.A285A|FAM131B_ENST00000443739.2_Silent_p.A297A Q86XD5 F131B_HUMAN family with sequence similarity 131, member B 269 breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) CAGGGCCCCTTGCCAGGTCCA 0.632000 20 106 0 0 0.010504 0 0 FCGBP 8857 broad.mit.edu 37 19 40411743 40411743 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:40411743C>T ENST00000221347.6 - 7 3892 c.3885G>A c.(3883-3885)caG>caA p.Q1295Q NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 1295 VWFD 3. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CCACGTTCTCCTGCAGGACGG 0.637000 22 42 0 0 0.004878 0 0 CD1E 913 broad.mit.edu 37 1 158325885 158325885 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:158325885C>T ENST00000444681.2 + 3 890 c.597C>T c.(595-597)atC>atT p.I199I CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368166.3_Silent_p.I109I|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368165.3_Silent_p.I208I|CD1E_ENST00000434258.1_Silent_p.I296I|CD1E_ENST00000368156.1_Silent_p.I208I|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368160.3_Silent_p.I298I|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368167.3_Silent_p.I298I|CD1E_ENST00000452291.2_Silent_p.I109I NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 298 Ig-like. antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) ATGATCTAATCATCCATTGGG 0.547000 11 53 0 0 0.010729 0 0 DPPA4 55211 broad.mit.edu 37 3 109049513 109049513 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:109049513C>T ENST00000335658.6 - 5 591 c.537G>A c.(535-537)ctG>ctA p.L179L DPPA4_ENST00000478791.1_5'UTR NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 179 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 TGGAATTTTCCAGGGCAGGCG 0.527000 17 58 0 0 0.007413 0 0 POMK 84197 broad.mit.edu 37 8 42977352 42977352 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:42977352C>T ENST00000331373.5 + 5 640 c.385C>T c.(385-387)Ctc>Ttc p.L129F NM_001277971.1|NM_032237.3 NP_001264900.1|NP_115613.1 Q9H5K3 SG196_HUMAN 129 Protein kinase. integral to membrane ATP binding|protein kinase activity GCTGAAATCTCTCCAAGGCAC 0.473000 22 61 0 0 0.003954 0 0 FRAS1 80144 broad.mit.edu 37 4 79440572 79440572 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:79440572T>A ENST00000264895.6 + 67 10917 c.10477T>A c.(10477-10479)Tcc>Acc p.S3493T NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3488 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GGGCTGGGCCTCCTTGGAGCA 0.532000 72 67 0 0 0.014410 0 0 CCDC147 159686 broad.mit.edu 37 10 106209871 106209871 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:106209871G>A ENST00000369704.3 + 17 2553 c.2419G>A c.(2419-2421)Gaa>Aaa p.E807K NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 807 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) ACAGAGCAAAGAATATAAATA 0.313000 16 41 0 0 0.004990 0 0 RAI1 10743 broad.mit.edu 37 17 17700534 17700534 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:17700534C>T ENST00000353383.1 + 3 4741 c.4272C>T c.(4270-4272)ttC>ttT p.F1424F RAI1_ENST00000261641.6_Silent_p.F1424F NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1424 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) CTGACTGTTTCAAAACCGAGG 0.557000 29 35 0 0 0.003271 0 0 DSG4 147409 broad.mit.edu 37 18 28993139 28993139 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:28993139C>T ENST00000359747.4 + 15 2790 c.2761C>T c.(2761-2763)Cat>Tat p.H921Y DSG4_ENST00000308128.4_Missense_Mutation_p.H902Y|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 902 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) ACCCGTGGTCCATGGGGATAT 0.428000 29 60 0 0 0.008361 0 0 TMEM225 338661 broad.mit.edu 37 11 123753976 123753976 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:123753976C>T ENST00000375026.2 - 4 763 c.547G>A c.(547-549)Gaa>Aaa p.E183K NM_001013743.1 NP_001013765.1 Q6GV28 TM225_HUMAN transmembrane protein 225 183 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 28 TTCTCAGATTCCTTACATTCG 0.423000 5 25 0 0 0.000602 0 0 SDK1 221935 broad.mit.edu 37 7 4188998 4188998 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:4188998C>T ENST00000404826.2 + 30 4667 c.4528C>T c.(4528-4530)Cgg>Tgg p.R1510W SDK1_ENST00000389531.3_Missense_Mutation_p.R1510W NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1510 Fibronectin type-III 9. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CTCCCCCATCCGGTACTTCAC 0.677000 5 10 0 0 0.000602 0 0 MARCO 8685 broad.mit.edu 37 2 119749407 119749407 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:119749407G>A ENST00000541757.1 + 15 1309 c.929G>A c.(928-930)gGa>gAa p.G310E MARCO_ENST00000327097.4_Missense_Mutation_p.G388E Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 388 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 GGTCCCAAGGGAGCCCCTGGA 0.587000 6 9 0 0 0.001168 0 0 TRPC3 7222 broad.mit.edu 37 4 122854062 122854062 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:122854062G>A ENST00000264811.5 - 1 550 c.132C>T c.(130-132)ctC>ctT p.L44L TRPC3_ENST00000513531.1_Silent_p.L44L|TRPC3_ENST00000379645.3_Silent_p.L117L NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 32 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 CGGCGGCGTCGAGGAAGCGCT 0.657000 15 21 0 0 0.004007 0 0 USP22 23326 broad.mit.edu 37 17 20921375 20921375 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:20921375G>A ENST00000261497.4 - 5 773 c.570C>T c.(568-570)atC>atT p.I190I USP22_ENST00000537526.2_Silent_p.I178I|USP22_ENST00000455117.2_Intron NM_015276.1 NP_056091.1 Q9UPT9 UBP22_HUMAN ubiquitin specific peptidase 22 190 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 GGGCCTGCACGATGCAGTTCA 0.572000 15 43 0 0 0.004990 0 0 CETP 1071 broad.mit.edu 37 16 57005954 57005954 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:57005954G>A ENST00000200676.3 + 8 839 c.709G>A c.(709-711)Gat>Aat p.D237N CETP_ENST00000566128.1_Missense_Mutation_p.D172N|CETP_ENST00000379780.2_Missense_Mutation_p.D237N|CETP_ENST00000569082.1_3'UTR NM_000078.2 NP_000069.2 P11597 CETP_HUMAN cholesteryl ester transfer protein, plasma 237 cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling high-density lipoprotein particle|vesicle cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3) 23 CCTGACAGGTGATCCCGTCAT 0.577000 13 56 0 0 0.004007 0 0 PAPPA2 60676 broad.mit.edu 37 1 176671742 176671742 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:176671742G>A ENST00000367662.3 + 9 4400 c.e9-1 NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GGTTTCCACAGGGAGGTCACA 0.498000 10 24 0 0 0.006214 0 0 PLCG2 5336 broad.mit.edu 37 16 81819622 81819622 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:81819622C>T ENST00000359376.3 + 2 242 c.28C>T c.(28-30)Ctt>Ttt p.L10F NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 10 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.L10I(2) NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 TGTAGATTCCCTTGCGGAATA 0.542000 19 64 0 0 0.012319 0 0 SSX6 280657 broad.mit.edu 37 X 47970732 47970732 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:47970732G>A ENST00000376932.2 + 4 347 c.273G>A c.(271-273)ggG>ggA p.G91G SSX6_ENST00000319275.3_5'UTR large_intestine(6)|lung(4)|skin(2)|stomach(1) 13 GTAACCGTGGGAATGAGGGTG 0.488000 3 3 0 0 0.004672 0 0 LILRB1 10859 broad.mit.edu 37 19 55144765 55144765 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:55144765C>T ENST00000396331.1 + 8 1614 c.1257C>T c.(1255-1257)gtC>gtT p.V419V LILRB1_ENST00000396321.2_Silent_p.V419V|LILRB1_ENST00000418536.2_Silent_p.V419V|LILRB1_ENST00000396315.1_Silent_p.V419V|LILRB1_ENST00000462628.1_Intron|LILRB1_ENST00000396317.1_Silent_p.V419V|LILRB1_ENST00000448689.1_Silent_p.V419V|LILRB1_ENST00000396327.3_Silent_p.V419V|LILRB1_ENST00000324602.7_Silent_p.V419V|LILRB1_ENST00000434867.2_Silent_p.V419V|LILRB1_ENST00000427581.2_Silent_p.V455V|LILRB1_ENST00000396332.4_Silent_p.V419V NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 419 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) AGCTCGTGGTCTCAGGTGGGG 0.637000 HNSCC(37;0.09) 7 68 0 0 0.004482 0 0 IFNA14 3448 broad.mit.edu 37 9 21239548 21239548 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:21239548C>T ENST00000380222.2 - 1 430 c.387G>A c.(385-387)gtG>gtA p.V129V NM_002172.2 NP_002163.2 P01570 IFN14_HUMAN interferon, alpha 14 129 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7) 11 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) GAGTCTCTTCCACCCCAACCT 0.453000 43 144 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179595338 179595338 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179595338G>A ENST00000589042.1 - 61 18146 c.17922C>T c.(17920-17922)gcC>gcT p.A5974A TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.A4730A|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.A5657A NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5657 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) TTTCCAAGAAGGCAGTATTGT 0.453000 32 51 0 0 0.009535 0 0 KANK4 163782 broad.mit.edu 37 1 62739545 62739545 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:62739545C>T ENST00000371153.4 - 3 1609 c.1231G>A c.(1231-1233)Gac>Aac p.D411N KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 411 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 ACCATCACGTCCGTCTGGCCC 0.517000 33 114 0 0 0.012213 0 0 SYNE1 23345 broad.mit.edu 37 6 152774627 152774627 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:152774627G>A ENST00000495090.2 - 12 1830 c.1822C>T c.(1822-1824)Cct>Tct p.P608S SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000367253.4_Intron|SYNE1_ENST00000413186.2_Intron|SYNE1_ENST00000448038.1_Intron|SYNE1_ENST00000367248.3_Intron|SYNE1_ENST00000367255.5_Intron|SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000265368.4_Intron Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 0 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GACTTTCCAGGAATTTCTAAA 0.363000 HNSCC(10;0.0054) 30 49 0 0 0.007291 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21789447 21789447 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:21789447G>A ENST00000206660.6 + 12 1497 c.1497G>A c.(1495-1497)aaG>aaA p.K499K RPGRIP1_ENST00000400017.2_Silent_p.K499K|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000382933.4_Silent_p.K141K|RPGRIP1_ENST00000556336.1_Silent_p.K472K|RPGRIP1_ENST00000557771.1_Silent_p.K472K Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 499 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) AAGAAGAAAAGAAACTGTCCC 0.403000 13 18 0 0 0.001855 0 0 ZNF99 7652 broad.mit.edu 37 19 22940045 22940045 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:22940045C>T ENST00000397104.3 - 6 2285 c.2286G>A c.(2284-2286)agG>agA p.R762R 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) TCTTATGTTTCCTAAGGGTTG 0.358000 12 18 0 0 0.013537 0 0 GNAI2 2771 broad.mit.edu 37 3 50293694 50293694 + Missense_Mutation SNP C C T rs137853226 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:50293694C>T ENST00000313601.6 + 5 919 c.535C>T c.(535-537)Cgc>Tgc p.R179C GNAI2_ENST00000451956.1_Missense_Mutation_p.R142C|GNAI2_ENST00000422163.1_Missense_Mutation_p.R163C|GNAI2_ENST00000536647.1_Missense_Mutation_p.R98C|GNAI2_ENST00000266027.5_Missense_Mutation_p.R163C|GNAI2_ENST00000440628.1_Missense_Mutation_p.R127C|GNAI2_ENST00000491100.1_3'UTR NM_002070.2 NP_002061.1 P04899 GNAI2_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 179 adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651) GCTACGGACCCGCGTAAAGAC 0.592000 15 30 0 0 0.004990 0 0 PRKCI 5584 broad.mit.edu 37 3 169985707 169985707 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:169985707C>T ENST00000295797.4 + 5 674 c.369C>T c.(367-369)tcC>tcT p.S123S NM_002740.5 NP_002731.4 P41743 KPCI_HUMAN protein kinase C, iota 123 Regulatory domain. anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) CTTCAGAATCCATCTACCGTA 0.363000 17 21 0 0 0.007413 0 0 TNC 3371 broad.mit.edu 37 9 117848531 117848531 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:117848531C>T ENST00000350763.4 - 3 1890 c.1479G>A c.(1477-1479)ggG>ggA p.G493G TNC_ENST00000542877.1_Silent_p.G493G|TNC_ENST00000340094.3_Silent_p.G493G|TNC_ENST00000535648.1_Silent_p.G493G|TNC_ENST00000345230.3_Silent_p.G493G|TNC_ENST00000537320.1_Silent_p.G493G|TNC_ENST00000346706.3_Silent_p.G493G|TNC_ENST00000423613.2_Silent_p.G493G|TNC_ENST00000341037.4_Silent_p.G493G NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 493 EGF-like 11. 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 GGCAGTCTTCCCCTGTGTAGC 0.597000 19 85 0 0 0.012319 0 0 SCN3A 6328 broad.mit.edu 37 2 165984417 165984417 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:165984417G>A ENST00000360093.3 - 18 3608 c.3117C>T c.(3115-3117)atC>atT p.I1039I SCN3A_ENST00000409101.3_Silent_p.I990I|SCN3A_ENST00000283254.7_Silent_p.I1039I NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1039 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) TGCCTTCATGGATTTCTATAA 0.358000 5 58 0 0 0.000602 0 0 ATP2C2 9914 broad.mit.edu 37 16 84456112 84456112 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:84456112C>T ENST00000416219.2 + 8 830 c.741C>T c.(739-741)ttC>ttT p.F247F ATP2C2_ENST00000262429.4_Silent_p.F247F|ATP2C2_ENST00000420010.2_3'UTR O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 247 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 ACATCGTCTTCATGGGGACCC 0.592000 22 33 0 0 0.014323 0 0 KRT24 192666 broad.mit.edu 37 17 38859631 38859631 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:38859631G>A ENST00000264651.2 - 1 371 c.315C>T c.(313-315)ttC>ttT p.F105F NM_019016.2 NP_061889.2 Q2M2I5 K1C24_HUMAN keratin 24 105 Gly-rich.|Head. cytoplasm|intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00526) AACTCCCACAGAATCCAGAAC 0.567000 23 80 0 0 0.012319 0 0 DNAH5 1767 broad.mit.edu 37 5 13721267 13721267 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:13721267G>A ENST00000265104.4 - 71 12225 c.12121C>T c.(12121-12123)Cca>Tca p.P4041S NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4041 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) GGCGTCCGTGGATCAGATTCC 0.483000 Kartagener syndrome 18 70 0 0 0.007413 0 0 SORL1 6653 broad.mit.edu 37 11 121489489 121489489 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:121489489G>A ENST00000260197.7 + 42 5740 c.5611G>A c.(5611-5613)Ggt>Agt p.G1871S SORL1_ENST00000525532.1_Missense_Mutation_p.G815S|SORL1_ENST00000527934.1_Missense_Mutation_p.G486S|SORL1_ENST00000534286.1_Missense_Mutation_p.G781S|SORL1_ENST00000532694.1_Missense_Mutation_p.G717S NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1871 Fibronectin type-III 4. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CCAGGTTTATGGTATTTTCTA 0.453000 9 66 0 0 0.010729 0 0 MYLK 4638 broad.mit.edu 37 3 123451915 123451915 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:123451915G>A ENST00000360772.3 - 12 1722 c.1344C>T c.(1342-1344)ttC>ttT p.F448F MYLK_ENST00000360304.3_Silent_p.F448F|MYLK_ENST00000346322.5_Intron|MYLK_ENST00000475616.1_Silent_p.F448F|MYLK_ENST00000359169.1_Silent_p.F448F Q15746 MYLK_HUMAN myosin light chain kinase 448 Ig-like C2-type 3. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TGCCTTCCAGGAACCAGGCCA 0.567000 9 20 0 0 0.010729 0 0 KCNK10 54207 broad.mit.edu 37 14 88729611 88729611 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:88729611C>T ENST00000340700.5 - 2 773 c.322G>A c.(322-324)Gag>Aag p.E108K KCNK10_ENST00000312350.5_Missense_Mutation_p.E113K|KCNK10_ENST00000319231.5_Missense_Mutation_p.E113K NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 108 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 TCCGCCTTCTCCAAGGCGATG 0.567000 9 17 0 0 0.003163 0 0 XPOT 11260 broad.mit.edu 37 12 64819643 64819643 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:64819643C>T ENST00000332707.5 + 15 2150 c.1621C>T c.(1621-1623)Cgg>Tgg p.R541W NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 541 Necessary for tRNA-binding, cytoplasmic localization and nuclear export. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding p.R541W(2) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) TGCAAAAGTTCGGAGCAGGAC 0.363000 91 69 0 0 0.014410 0 0 SLC22A3 6581 broad.mit.edu 37 6 160831796 160831796 + Missense_Mutation SNP G G A rs151135411 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:160831796G>A ENST00000392145.1 + 5 920 c.893G>A c.(892-894)cGg>cAg p.R298Q SLC22A3_ENST00000275300.2_Missense_Mutation_p.R298Q O75751 S22A3_HUMAN solute carrier family 22 (organic cation transporter), member 3 298 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) CTGATTACTCGGAAGAAAGGA 0.428000 18 55 0 0 0.006122 0 0 HOXB13 10481 broad.mit.edu 37 17 46804307 46804307 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:46804307C>T ENST00000290295.7 - 2 1284 c.700G>A c.(700-702)Gag>Aag p.E234K NM_006361.5 NP_006352.2 Q92826 HXB13_HUMAN homeobox B13 234 angiogenesis|epidermis development|response to wounding sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|lung(6)|prostate(1) 11 GCCGCATACTCCCGCTCCAGC 0.612000 48 25 0 0 0.014410 0 0 CXCR2 3579 broad.mit.edu 37 2 219000175 219000175 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:219000175C>T ENST00000318507.2 + 3 1078 c.651C>T c.(649-651)tcC>tcT p.S217S NM_001557.3 NP_001548.1 P25025 CXCR2_HUMAN chemokine (C-X-C motif) receptor 2 217 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 TGCCCCAGTCCTTTGGCTTCA 0.557000 35 91 0 0 0.004878 0 0 GJB5 2709 broad.mit.edu 37 1 35223590 35223590 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:35223590G>A ENST00000338513.1 + 2 832 c.659G>A c.(658-660)aGg>aAg p.R220K NM_005268.3 NP_005259.1 O95377 CXB5_HUMAN gap junction protein, beta 5, 31.1kDa 220 cell communication|epidermis development connexon complex|integral to membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 Myeloproliferative disorder(586;0.0393) CTGGCAGCAAGGAAAGCTCAA 0.567000 10 52 0 0 0.008291 0 0 OTOL1 131149 broad.mit.edu 37 3 161220114 161220114 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:161220114G>A ENST00000327928.4 + 3 474 c.474G>A c.(472-474)ggG>ggA p.G158G NM_001080440.1 NP_001073909.1 A6NHN0 OTOL1_HUMAN otolin 1 158 Collagen-like 1. collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 GAGAACGTGGGGACCAAGGAG 0.413000 6 14 0 0 0.001168 0 0 FAM49A 81553 broad.mit.edu 37 2 16742799 16742799 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:16742799C>T ENST00000381323.3 - 7 658 c.438G>A c.(436-438)atG>atA p.M146I FAM49A_ENST00000355549.2_Missense_Mutation_p.M146I|FAM49A_ENST00000406434.1_Missense_Mutation_p.M146I NM_030797.3 NP_110424.1 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 146 intracellular breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) CCGGGTTCCTCATCTGAAATT 0.468000 11 21 0 0 0.013537 0 0 TGFA 7039 broad.mit.edu 37 2 70742001 70742001 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:70742001G>A ENST00000295400.6 - 2 331 c.84C>T c.(82-84)tcC>tcT p.S28S TGFA_ENST00000445399.1_Silent_p.S28S|TGFA_ENST00000450929.1_Silent_p.S34S|TGFA_ENST00000418333.2_Silent_p.S28S|TGFA_ENST00000444975.1_Silent_p.S34S|TGFA_ENST00000460808.1_5'UTR NM_001099691.2|NM_003236.3 NP_001093161.1|NP_003227.1 P01135 TGFA_HUMAN transforming growth factor, alpha 28 activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis cell surface|extracellular space|integral to membrane|plasma membrane epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1) 4 CACTCAGCGGGGACGTGCTGT 0.607000 7 24 0 0 0.003080 0 0 OR1F1 4992 broad.mit.edu 37 16 3255033 3255033 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:3255033C>T ENST00000304646.2 + 1 787 c.787C>T c.(787-789)Ctg>Ttg p.L263L AJ003147.9_ENST00000576468.1_RNA NM_012360.1 NP_036492.1 O43749 OR1F1_HUMAN olfactory receptor, family 1, subfamily F, member 1 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(7) 11 TTTTAACCCTCTGTCCTCCCA 0.483000 53 101 0 0 0.014410 0 0 SPTBN4 57731 broad.mit.edu 37 19 40978566 40978566 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:40978566G>A ENST00000352632.3 + 2 124 c.38G>A c.(37-39)gGc>gAc p.G13D SPTBN4_ENST00000338932.3_Missense_Mutation_p.G13D|SPTBN4_ENST00000595535.1_Missense_Mutation_p.G13D|SPTBN4_ENST00000344104.3_Missense_Mutation_p.G13D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.G13D Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 13 Actin-binding. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) AACATGGAGGGCCTGCCTGCT 0.637000 10 14 0 0 0.002450 0 0 TAF1L 138474 broad.mit.edu 37 9 32635017 32635017 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:32635017G>A ENST00000242310.4 - 1 650 c.561C>T c.(559-561)ccC>ccT p.P187P RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 187 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CAATGATGGAGGGCAAGATGA 0.493000 9 39 0 0 0.004482 0 0 TNP2 7142 broad.mit.edu 37 16 11362996 11362996 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:11362996G>A ENST00000312693.3 - 1 193 c.124C>T c.(124-126)Cgt>Tgt p.R42C RMI2_ENST00000572173.1_Intron NM_005425.4 NP_005416.1 Q05952 STP2_HUMAN transition protein 2 (during histone to protamine replacement) 42 cell differentiation|multicellular organismal development|spermatogenesis nucleosome|nucleus DNA binding p.0?(1) large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 6 CGGCTGCCACGATGGCTCTGT 0.632000 84 182 0 0 0.014410 0 0 DIRAS2 54769 broad.mit.edu 37 9 93375783 93375783 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb 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 9 60 0 0 0.006214 0 0 NTRK2 4915 broad.mit.edu 37 9 87339142 87339142 + Missense_Mutation SNP G G A rs67648204 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:87339142G>A ENST00000304053.6 + 8 1207 c.724G>A c.(724-726)Gaa>Aaa p.E242K NTRK2_ENST00000323115.4_Missense_Mutation_p.E242K|NTRK2_ENST00000359847.3_Missense_Mutation_p.E242K|NTRK2_ENST00000395866.2_Missense_Mutation_p.E86K|NTRK2_ENST00000376214.1_Missense_Mutation_p.E242K|NTRK2_ENST00000376208.1_Missense_Mutation_p.E242K|NTRK2_ENST00000376213.1_Missense_Mutation_p.E242K|NTRK2_ENST00000395882.1_Missense_Mutation_p.E242K|NTRK2_ENST00000277120.3_Missense_Mutation_p.E242K NM_001018065.2 NP_001018075.1 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 242 Ig-like C2-type 1. activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 TTTGTAGAATGAAACAAGCCA 0.388000 TSP Lung(25;0.17) 19 22 0 0 0.010504 0 0 FAM171B 165215 broad.mit.edu 37 2 187626444 187626444 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:187626444G>A ENST00000304698.5 + 8 1578 c.1375G>A c.(1375-1377)Gat>Aat p.D459N NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 459 integral to membrane DNA binding p.D459N(3)|p.D459H(1) NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 AACTCGGGACGATTTTAAAAT 0.368000 17 29 0 0 0.006122 0 0 TRIM5 85363 broad.mit.edu 37 11 5686228 5686228 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:5686228C>T ENST00000305836.5 - 8 1595 c.1293G>A c.(1291-1293)gtG>gtA p.V431V TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000380034.3_Silent_p.V431V Q9C035 TRIM5_HUMAN tripartite motif containing 5 431 B30.2/SPRY. interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) GACAAATAATCACAGAGAGGG 0.408000 8 25 0 0 0.003080 0 0 PLCH1 23007 broad.mit.edu 37 3 155282900 155282900 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:155282900C>T ENST00000460012.1 - 8 1140 c.783G>A c.(781-783)acG>acA p.T261T PLCH1_ENST00000494598.1_Silent_p.T279T|PLCH1_ENST00000340059.7_Silent_p.T279T|PLCH1_ENST00000414191.1_Silent_p.T261T|PLCH1_ENST00000447496.2_Silent_p.T279T|PLCH1_ENST00000334686.6_Silent_p.T261T Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 279 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity p.T261T(1) NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GCATGAAGTTCGTGAAGCCTT 0.423000 9 23 0 0 0.004482 0 0 MYH7B 57644 broad.mit.edu 37 20 33581170 33581170 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:33581170G>A ENST00000262873.7 + 24 2559 c.2467G>A c.(2467-2469)Gaa>Aaa p.E823K NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 781 membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) AGGCGTCCTGGAAGAGCTCCG 0.662000 10 29 0 0 0.013537 0 0 NFIX 4784 broad.mit.edu 37 19 13184830 13184830 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:13184830C>T ENST00000358552.3 + 4 805 c.805C>T c.(805-807)Cct>Tct p.P269S NFIX_ENST00000588228.1_Missense_Mutation_p.P223S|NFIX_ENST00000585575.1_Missense_Mutation_p.P262S|NFIX_ENST00000587260.1_Missense_Mutation_p.P269S|NFIX_ENST00000592199.1_Missense_Mutation_p.P270S|NFIX_ENST00000397661.2_Missense_Mutation_p.P270S|NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000360105.4_Missense_Mutation_p.P273S|NFIX_ENST00000587760.1_Missense_Mutation_p.P262S Q14938 NFIX_HUMAN nuclear factor I/X (CCAAT-binding transcription factor) 270 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) CACCTCCCCTCCTTCCACCAG 0.622000 33 48 0 0 0.004878 0 0 SELP 6403 broad.mit.edu 37 1 169581510 169581510 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:169581510T>C ENST00000263686.6 - 6 943 c.906A>G c.(904-906)gaA>gaG p.E302E SELP_ENST00000367786.2_Silent_p.E302E|SELP_ENST00000367792.2_Silent_p.E302E|SELP_ENST00000367791.2_Silent_p.E302E|SELP_ENST00000367788.2_Intron|SELP_ENST00000367794.2_Silent_p.E302E|SELP_ENST00000458599.2_Silent_p.E302E|SELP_ENST00000367793.2_Intron NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 302 Sushi 2. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) ATTGCACCACTTCCGGTCCAA 0.502000 31 82 0 0 0.004289 0 0 LRP2 4036 broad.mit.edu 37 2 170097749 170097749 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:170097749G>A ENST00000263816.3 - 25 4079 c.3794C>T c.(3793-3795)gCc>gTc p.A1265V LRP2_ENST00000443831.1_Missense_Mutation_p.A1128V NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 1265 LDL-receptor class A 13. 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) GGGGACACAGGCATTGTGCTC 0.502000 25 63 0 0 0.005443 0 0 CMTM8 152189 broad.mit.edu 37 3 32409429 32409429 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:32409429C>T ENST00000307526.3 + 3 681 c.387C>T c.(385-387)tcC>tcT p.S129S CMTM8_ENST00000458535.2_Silent_p.S71S NM_178868.3 NP_849199.2 Q8IZV2 CKLF8_HUMAN CKLF-like MARVEL transmembrane domain containing 8 129 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity breast(1)|endometrium(1)|kidney(1)|lung(1) 4 ATGCATCTTCCGTCTCCCCTG 0.587000 19 47 0 0 0.007413 0 0 SERPINI2 5276 broad.mit.edu 37 3 167159914 167159914 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:167159914C>T ENST00000476257.1 - 10 1499 c.1201G>A c.(1201-1203)Gat>Aat p.D401N SERPINI2_ENST00000264677.4_Missense_Mutation_p.D401N|SERPINI2_ENST00000461846.1_Missense_Mutation_p.D401N|SERPINI2_ENST00000471111.1_Missense_Mutation_p.D401N O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 401 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 GAATCTAAATCTCTTCCTTTT 0.323000 7 14 0 0 0.004482 0 0 SPAM1 6677 broad.mit.edu 37 7 123594008 123594008 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:123594008G>A ENST00000340011.5 + 3 741 c.384G>A c.(382-384)aaG>aaA p.K128K SPAM1_ENST00000223028.7_Silent_p.K128K|SPAM1_ENST00000460182.1_Silent_p.K128K|SPAM1_ENST00000402183.2_Silent_p.K128K|SPAM1_ENST00000439500.1_Silent_p.K128K NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 128 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) ACAAAGCTAAGAAAGACATTA 0.413000 6 47 0 0 0.001168 0 0 TRBV7-4 28594 broad.mit.edu 37 7 142176577 142176577 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:142176577C>T ENST00000390369.2 - 0 98 CCCGTCCCCTCTTTGCGACTT 0.483000 16 26 0 0 0.004990 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92671613 92671613 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:92671613C>T ENST00000318445.6 + 7 1620 c.1406C>T c.(1405-1407)tCg>tTg p.S469L SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.S469L NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 469 Kazal-like. sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) GACCCCTACTCGCCCTGCAAT 0.532000 10 80 0 0 0.010729 0 0 TTN 7273 broad.mit.edu 37 2 179497750 179497750 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179497750C>T ENST00000589042.1 - 234 43332 c.43108G>A c.(43108-43110)Gga>Aga p.G14370R TTN_ENST00000460472.2_Missense_Mutation_p.G5305R|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G5430R|TTN_ENST00000342992.6_Missense_Mutation_p.G11802R|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G5497R|TTN_ENST00000591111.1_Missense_Mutation_p.G12729R NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12729 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) TGCTTCTTTCCATCCTCAATG 0.388000 12 30 0 0 0.013537 0 0 SIRPB2 284759 broad.mit.edu 37 20 1460520 1460520 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:1460520G>A ENST00000359801.3 - 2 312 c.276C>T c.(274-276)ttC>ttT p.F92F SIRPB2_ENST00000381630.1_Intron|SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000537284.1_Intron NM_001122962.1 NP_001116434.1 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 92 Ig-like V-type 1. integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TTACCCCAGGGAAGGAGCCAC 0.473000 40 35 0 0 0.007835 0 0 FNDC1 84624 broad.mit.edu 37 6 159677661 159677661 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:159677661G>A ENST00000297267.9 + 18 5372 c.5172G>A c.(5170-5172)acG>acA p.T1724T FNDC1_ENST00000340366.6_Silent_p.T1661T NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1724 Fibronectin type-III 5. 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) AGCCCAACACGAGGTACGATG 0.423000 24 73 0 0 0.003330 0 0 MMP20 9313 broad.mit.edu 37 11 102465400 102465400 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:102465400C>T ENST00000260228.2 - 7 1054 c.1042G>A c.(1042-1044)Gat>Aat p.D348N NM_004771.3 NP_004762.2 O60882 MMP20_HUMAN matrix metallopeptidase 20 348 Hemopexin-like 2. proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) TAAGCTGCATCCACATTGGAC 0.522000 4 32 0 0 0.009096 0 0 ZNF112 7665 broad.mit.edu 37 19 44833723 44833723 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:44833723G>A ENST00000354340.4 - 4 638 c.587C>T c.(586-588)tCc>tTc p.S196F ZNF112_ENST00000337401.4_Missense_Mutation_p.S202F|ZNF112_ENST00000536500.1_Missense_Mutation_p.S219F NM_013380.3 NP_037512.3 zinc finger protein 112 ATTTTTCATGGAAATTTGCTG 0.378000 29 58 0 0 0.008361 0 0 MMP16 4325 broad.mit.edu 37 8 89058988 89058988 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:89058988C>T ENST00000286614.6 - 9 1679 c.1398G>A c.(1396-1398)atG>atA p.M466I NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 466 Hemopexin-like 3. collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 CCATTGTTTTCATTTCTTCAC 0.368000 11 69 0 0 0.010729 0 0 DPT 1805 broad.mit.edu 37 1 168698215 168698215 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:168698215C>T ENST00000367817.3 - 1 287 c.198G>A c.(196-198)aaG>aaA p.K66K NM_001937.4 NP_001928.2 Q07507 DERM_HUMAN dermatopontin 66 2 X 53-55 AA tandem repeats. cell adhesion extracellular space|proteinaceous extracellular matrix kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2) 12 all_hematologic(923;0.208) CAGAACCTTCCTTCTTGCTGA 0.587000 24 51 0 0 0.005443 0 0 KLK3 354 broad.mit.edu 37 19 51359505 51359505 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:51359505C>T ENST00000360617.3 + 2 56 c.56C>T c.(55-57)cCc>cTc p.P19L KLK3_ENST00000595952.1_Missense_Mutation_p.P19L|KLK3_ENST00000326003.2_Missense_Mutation_p.P19L|KLK3_ENST00000597483.1_Missense_Mutation_p.P19L|KLK3_ENST00000593997.1_Missense_Mutation_p.P19L P07288 KLK3_HUMAN kallikrein-related peptidase 3 19 negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) GGTGCTGCACCCCTCATCCTG 0.597000 13 96 0 0 0.001855 0 0 DCTN1 1639 broad.mit.edu 37 2 74598741 74598741 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:74598741G>A ENST00000361874.3 - 8 885 c.568C>T c.(568-570)Ccg>Tcg p.P190S DCTN1_ENST00000409868.1_Missense_Mutation_p.P173S|DCTN1_ENST00000409567.3_Missense_Mutation_p.P170S|DCTN1_ENST00000394003.3_Missense_Mutation_p.P183S|DCTN1_ENST00000409438.1_Missense_Mutation_p.P56S|DCTN1_ENST00000409240.1_Missense_Mutation_p.P153S|DCTN1_ENST00000407639.2_Missense_Mutation_p.P56S NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 190 Ser-rich. cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 GCTGCCAGCGGAGTCTGAGCC 0.667000 6 5 0 0 0.001168 0 0 PTGFRN 5738 broad.mit.edu 37 1 117503968 117503968 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:117503968G>A ENST00000393203.2 + 5 1464 c.1317G>A c.(1315-1317)gcG>gcA p.A439A NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 439 Ig-like C2-type 4. endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) GTGGGGAGGCGAATGTCCGAT 0.602000 17 51 0 0 0.004007 0 0 CASC1 55259 broad.mit.edu 37 12 25297531 25297531 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:25297531C>T ENST00000354189.5 - 9 979 c.944G>A c.(943-945)cGa>cAa p.R315Q CASC1_ENST00000395987.3_Missense_Mutation_p.R257Q|CASC1_ENST00000395990.2_Missense_Mutation_p.R211Q|CASC1_ENST00000320267.9_Missense_Mutation_p.R251Q|CASC1_ENST00000537577.1_Missense_Mutation_p.R139Q|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000545133.1_Missense_Mutation_p.R192Q NM_001082972.1 NP_001076441.1 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 251 breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) ATGCAGGAGTCGTACAGCAAT 0.378000 256 10 0 0 0.014410 0 0 MET 4233 broad.mit.edu 37 7 116418907 116418907 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:116418907C>T ENST00000397752.3 + 17 3618 c.3418C>T c.(3418-3420)Ctc>Ttc p.L1140F MET_ENST00000539704.1_Missense_Mutation_p.L10F|MET_ENST00000318493.6_Missense_Mutation_p.L1158F NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 1140 Protein kinase. 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) TCCCAATGTCCTCTCGCTCCT 0.463000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 17 64 0 0 0.004990 0 0 MKI67 4288 broad.mit.edu 37 10 129903183 129903183 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:129903183C>T ENST00000368654.3 - 13 7296 c.6921G>A c.(6919-6921)aaG>aaA p.K2307K MKI67_ENST00000368653.3_Silent_p.K1947K NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2307 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GGGCCTTTTCCTTAGGAGTTT 0.478000 20 132 0 0 0.010504 0 0 ZNF600 162966 broad.mit.edu 37 19 53269225 53269225 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:53269225G>A ENST00000338230.3 - 3 2051 c.1784C>T c.(1783-1785)tCa>tTa p.S595L NM_198457.2 NP_940859.2 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 595 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) TGCCAGGTATGAATTACGCAC 0.408000 51 100 0 0 0.014410 0 0 TBX18 9096 broad.mit.edu 37 6 85466564 85466564 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:85466564C>T ENST00000369663.5 - 4 960 c.623G>A c.(622-624)tGg>tAg p.W208* TBX18_ENST00000606784.1_Nonsense_Mutation_p.W50*|TBX18_ENST00000606521.1_5'UTR NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 208 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) TGCCACCATCCATTTCGAACT 0.483000 14 21 0 0 0.004007 0 0 DLG2 1740 broad.mit.edu 37 11 83170872 83170872 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:83170872C>T ENST00000398309.2 - 23 3072 c.2602G>A c.(2602-2604)Gaa>Aaa p.E868K DLG2_ENST00000376106.3_Missense_Mutation_p.E332K|DLG2_ENST00000404783.3_Missense_Mutation_p.E346K|DLG2_ENST00000537455.1_Missense_Mutation_p.E618K|DLG2_ENST00000330014.6_Missense_Mutation_p.E789K|DLG2_ENST00000532653.1_Missense_Mutation_p.E850K|DLG2_ENST00000524982.1_Missense_Mutation_p.E864K|DLG2_ENST00000280241.8_Missense_Mutation_p.E907K|DLG2_ENST00000426717.2_Missense_Mutation_p.E332K|DLG2_ENST00000418306.2_Missense_Mutation_p.E747K|DLG2_ENST00000376104.2_Missense_Mutation_p.E973K|DLG2_ENST00000543673.1_Missense_Mutation_p.E973K NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 868 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TATAACTTTTCCTTTGAGGGA 0.353000 12 29 0 0 0.004007 0 0 KIAA2022 340533 broad.mit.edu 37 X 73961966 73961966 + Missense_Mutation SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:73961966A>C ENST00000373468.1 - 3 3077 c.2426T>G c.(2425-2427)gTt>gGt p.V809G KIAA2022_ENST00000055682.5_Missense_Mutation_p.V809G Q5QGS0 K2022_HUMAN KIAA2022 809 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 TCCCGGGATAACAGGTATATT 0.408000 51 22 0 0 0.014410 0 0 CHST15 51363 broad.mit.edu 37 10 125805315 125805315 + Silent SNP G G A rs41297147 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:125805315G>A ENST00000346248.5 - 2 1056 c.414C>T c.(412-414)tcC>tcT p.S138S CHST15_ENST00000435907.1_Silent_p.S138S|CHST15_ENST00000421115.1_Silent_p.S138S NM_001270764.1|NM_015892.3 NP_001257693.1|NP_056976.2 Q7LFX5 CHSTF_HUMAN carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 138 hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1) 26 TATTTACAGAGGATTGGTGGT 0.438000 28 98 0 0 0.010818 0 0 GPR149 344758 broad.mit.edu 37 3 154138961 154138961 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:154138961C>T ENST00000389740.2 - 3 1589 c.1490G>A c.(1489-1491)gGa>gAa p.G497E NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 497 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) AATATCACCTCCTGTTTTGTC 0.403000 27 109 0 0 0.006320 0 0 ABCA4 24 broad.mit.edu 37 1 94564427 94564427 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:94564427A>T ENST00000370225.3 - 6 777 c.691T>A c.(691-693)Tcc>Acc p.S231T ABCA4_ENST00000535735.1_Missense_Mutation_p.S231T NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 231 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TGGGAGAGGGAGCACAGGGCA 0.602000 14 41 0 0 0.002450 0 0 FNDC8 54752 broad.mit.edu 37 17 33457401 33457401 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:33457401G>A ENST00000158009.5 + 4 1038 c.923G>A c.(922-924)gGg>gAg p.G308E NLE1_ENST00000586869.1_3'UTR NM_017559.2 NP_060029.1 Q8TC99 FNDC8_HUMAN fibronectin type III domain containing 8 308 breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1) 11 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.022) GTGTCCATCGGGCCGGAGGAG 0.582000 39 21 0 0 0.005524 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841458 8841458 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:8841458C>T ENST00000324060.2 + 1 143 c.68C>T c.(67-69)tCa>tTa p.S23L NM_001004699.1 NP_001004699.1 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, member 1 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CACTCAGGATCACGCCAGCTC 0.527000 6 43 0 0 0.001168 0 0 WIF1 11197 broad.mit.edu 37 12 65514243 65514243 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:65514243G>A ENST00000286574.4 - 2 616 c.242C>T c.(241-243)cCt>cTt p.P81L NM_007191.4 NP_009122.2 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 81 WIF. multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) GATATTGACAGGAATAGCTGG 0.408000 T HMGA2 pleomorphic salivary gland adenoma 26 32 0 0 0.006320 0 0 HTT 3064 broad.mit.edu 37 4 3214418 3214418 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:3214418C>T ENST00000355072.5 + 49 6901 c.6756C>T c.(6754-6756)ttC>ttT p.F2252F NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 2252 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) TTGTGAAATTCGTGGTGGCAA 0.557000 27 26 0 0 0.008361 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130288974 130288974 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:130288974C>T ENST00000257359.6 - 2 1640 c.934G>A c.(934-936)Gac>Aac p.D312N NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 312 Peptidase M12B. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) ATGGCCGTGTCGTAGTGCTCT 0.642000 8 85 0 0 0.006214 0 0 NOD1 10392 broad.mit.edu 37 7 30492014 30492014 + Missense_Mutation SNP C C G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:30492014C>G ENST00000222823.4 - 6 1544 c.1019G>C c.(1018-1020)cGc>cCc p.R340P NOD1_ENST00000423334.2_3'UTR NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 340 NACHT. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 CAGGAACTGGCGCGGGACCTC 0.682000 23 59 0 0 0.004656 0 0 DCTN3 11258 broad.mit.edu 37 9 34618712 34618712 + Missense_Mutation SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:34618712A>C ENST00000447983.2 - 2 195 c.142T>G c.(142-144)Tcc>Gcc p.S48A DCTN3_ENST00000378913.2_Missense_Mutation_p.S48A|DCTN3_ENST00000477738.2_Missense_Mutation_p.S48A|DCTN3_ENST00000259632.7_Missense_Mutation_p.S48A|DCTN3_ENST00000378916.4_Missense_Mutation_p.S48A|DCTN3_ENST00000341694.2_Missense_Mutation_p.S48A O75935 DCTN3_HUMAN dynactin 3 (p22) 48 cytokinesis|G2/M transition of mitotic cell cycle|mitosis centrosome|cleavage furrow|condensed chromosome kinetochore|cytosol|dynactin complex|midbody|perinuclear region of cytoplasm|spindle protein binding|structural molecule activity large_intestine(1)|skin(1) 2 all_epithelial(49;0.0863) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.0388) CTCTTGCTGGAAATGTTCCCC 0.527000 14 30 0 0 0.004990 0 0 NIPSNAP1 8508 broad.mit.edu 37 22 29965262 29965262 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:29965262G>A ENST00000216121.7 - 4 541 c.287C>T c.(286-288)cCc>cTc p.P96L NM_001202502.1|NM_003634.3 NP_001189431.1|NP_003625.2 Q9BPW8 NIPS1_HUMAN nipsnap homolog 1 (C. elegans) 96 p.?(1) large_intestine(2)|lung(2)|skin(1) 5 GTGAAGCTTGGGCAGCACAGC 0.592000 5 23 0 0 0.001984 0 0 PHF21B 112885 broad.mit.edu 37 22 45309846 45309846 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:45309846G>A ENST00000313237.5 - 5 837 c.687C>T c.(685-687)ttC>ttT p.F229F PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000403565.1_Intron NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B 229 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) TGATGACCTGGAAGATGCCAT 0.647000 43 45 0 0 0.009718 0 0 GPR98 84059 broad.mit.edu 37 5 90449127 90449127 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:90449127C>T ENST00000405460.2 + 89 18810 c.18714C>T c.(18712-18714)ttC>ttT p.F6238F GPR98_ENST00000425867.2_Silent_p.F1899F NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 6238 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) GAGCCACGTTCCCGTCCTCTG 0.483000 5 8 0 0 0.001168 0 0 FAM46C 54855 broad.mit.edu 37 1 118166142 118166142 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:118166142G>A ENST00000369448.3 + 2 899 c.652G>A c.(652-654)Gac>Aac p.D218N NM_017709.3 NP_060179.2 Q5VWP2 FA46C_HUMAN family with sequence similarity 46, member C 218 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung SC(450;0.225) all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05) Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247) CATGTACGGGGACTTTGAGGA 0.488000 """Mis, F, O""" MM Multiple Myeloma(3;1.13e-06) 23 130 0 0 0.007291 0 0 C11orf53 341032 broad.mit.edu 37 11 111156412 111156412 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:111156412T>C ENST00000280325.4 + 4 491 c.344T>C c.(343-345)cTc>cCc p.L115P NM_198498.1 NP_940900.1 Q8IXP5 CK053_HUMAN chromosome 11 open reading frame 53 115 endometrium(1)|large_intestine(2)|lung(3)|skin(2) 8 all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147) Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507) CCTGACGGTCTCAGCCAGCCT 0.587000 16 51 0 0 0.004990 0 0 MED17 9440 broad.mit.edu 37 11 93523911 93523911 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:93523911C>T ENST00000251871.3 + 3 876 c.589C>T c.(589-591)Cga>Tga p.R197* NM_004268.4 NP_004259.3 Q9NVC6 MED17_HUMAN mediator complex subunit 17 197 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(2)|lung(11)|ovary(1) 14 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CTGGAAACTTCGAAAAGTTGG 0.398000 10 41 0 0 0.010729 0 0 STRA8 346673 broad.mit.edu 37 7 134943183 134943183 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:134943183C>T ENST00000275764.3 + 9 932 c.932C>T c.(931-933)cCc>cTc p.P311L NM_182489.1 NP_872295.1 Q7Z7C7 STRA8_HUMAN stimulated by retinoic acid 8 311 DNA replication|regulation of transcription, DNA-dependent cytoplasm|nucleus breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1) 16 GCATCCTTTCCCGTTGATGAA 0.517000 3 4 0 0 0.004672 0 0 MAP3K2 10746 broad.mit.edu 37 2 128079620 128079620 + Splice_Site SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:128079620A>C ENST00000409947.1 - 12 1328 c.e12+1 MAP3K2_ENST00000344908.5_Splice_Site Q9Y2U5 M3K2_HUMAN mitogen-activated protein kinase kinase kinase 2 activation of JUN kinase activity|cellular response to mechanical stimulus nucleus ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0706) TCTATTACTTACAACGGCTGG 0.373000 7 7 0 0 0.003080 0 0 DOPEY1 23033 broad.mit.edu 37 6 83828678 83828678 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:83828678G>A ENST00000349129.2 + 8 1112 c.852G>A c.(850-852)ctG>ctA p.L284L DOPEY1_ENST00000237163.5_Silent_p.L284L|DOPEY1_ENST00000369739.3_Silent_p.L284L|DOPEY1_ENST00000536812.1_3'UTR NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 284 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) ATATGTCTCTGAATCGAAGAC 0.423000 40 59 0 0 0.010771 0 0 SGCZ 137868 broad.mit.edu 37 8 14412247 14412247 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:14412247G>A ENST00000382080.1 - 2 943 c.228C>T c.(226-228)ttC>ttT p.F76F SGCZ_ENST00000421524.2_Silent_p.F63F NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 63 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) TTACCACAGTGAAATTCATAA 0.333000 4 35 0 0 0.000602 0 0 LRRC56 115399 broad.mit.edu 37 11 552096 552096 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:552096G>A ENST00000270115.7 + 12 1545 c.1045G>A c.(1045-1047)Gag>Aag p.E349K NM_198075.3 NP_932341.1 Q8IYG6 LRC56_HUMAN leucine rich repeat containing 56 349 kidney(1)|lung(4)|skin(1) 6 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCAGGCCAGGGAGCCCCCCGA 0.657000 11 71 0 0 0.001855 0 0 AK9 221264 broad.mit.edu 37 6 109867287 109867287 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:109867287C>T ENST00000424296.2 - 26 3084 c.3008G>A c.(3007-3009)gGc>gAc p.G1003D AK9_ENST00000341338.6_Missense_Mutation_p.G82D|AK9_ENST00000355283.1_Missense_Mutation_p.G82D NM_001145128.2 NP_001138600.2 adenylate kinase 9 CATAGTTTTGCCAGAGCCCTG 0.448000 17 117 0 0 0.008871 0 0 MGAM 8972 broad.mit.edu 37 7 141726950 141726950 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:141726950C>T ENST00000475668.2 + 9 1072 c.1018C>T c.(1018-1020)Cgc>Tgc p.R340C MGAM_ENST00000549489.2_Missense_Mutation_p.R340C O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 340 Maltase. 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) CATCACTTACCGCACCATTGG 0.388000 38 97 0 0 0.009718 0 0 DOCK2 1794 broad.mit.edu 37 5 169474608 169474608 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:169474608C>T ENST00000256935.8 + 40 4141 c.4061C>T c.(4060-4062)tCc>tTc p.S1354F DOCK2_ENST00000520908.1_Missense_Mutation_p.S846F|DOCK2_ENST00000540750.1_Missense_Mutation_p.S415F|DOCK2_ENST00000523351.1_3'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1354 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGATTCCCCTCCTTCCTGCGG 0.532000 11 21 0 0 0.010729 0 0 KLHL4 56062 broad.mit.edu 37 X 86887278 86887278 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:86887278C>T ENST00000373119.4 + 7 1538 c.1393C>T c.(1393-1395)Cgt>Tgt p.R465C KLHL4_ENST00000373114.4_Missense_Mutation_p.R465C NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 465 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 CATGAATGGCCGTAGGCTTCA 0.393000 17 8 0 0 0.004007 0 0 ADORA3 140 broad.mit.edu 37 1 112026336 112026336 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:112026336C>T ENST00000369716.4 - 6 1150 c.1017G>A c.(1015-1017)aaG>aaA p.K339K ADORA3_ENST00000369717.4_Silent_p.K258K NM_020683.6 NP_065734.5 P33765 AA3R_HUMAN adenosine A3 receptor 0 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) GAGCCATTTCCTTTGGAGTCA 0.428000 9 19 0 0 0.008291 0 0 ADAM30 11085 broad.mit.edu 37 1 120437336 120437336 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:120437336G>A ENST00000369400.1 - 1 1782 c.1624C>T c.(1624-1626)Cga>Tga p.R542* NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 542 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) TTAAAATTTCGAATTCCTGTA 0.378000 170 365 0 0 0.014410 0 0 WIPF1 7456 broad.mit.edu 37 2 175431779 175431779 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:175431779C>T ENST00000409891.1 - 7 1677 c.1475G>A c.(1474-1476)gGt>gAt p.G492D WIPF1_ENST00000392546.2_Intron|WIPF1_ENST00000359761.3_Intron|WIPF1_ENST00000392547.2_Intron|AC018890.6_ENST00000412835.1_RNA|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000272746.5_Intron O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 0 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 TCTTCAAAAACCTTGGCAGAA 0.478000 13 26 0 0 0.013537 0 0 EFEMP1 2202 broad.mit.edu 37 2 56104905 56104905 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:56104905C>T ENST00000394555.2 - 6 1171 c.736G>A c.(736-738)Gca>Aca p.A246T EFEMP1_ENST00000394554.1_Missense_Mutation_p.A246T|EFEMP1_ENST00000355426.3_Missense_Mutation_p.A246T|EFEMP1_ENST00000424836.2_Intron NM_001039348.2|NM_001039349.2 NP_001034437.1|NP_001034438.1 Q12805 FBLN3_HUMAN EGF containing fibulin-like extracellular matrix protein 1 246 EGF-like 3; calcium-binding (Potential). negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TTGTTTGCTGCCAATTGAAAC 0.438000 15 48 0 0 0.002450 0 0 KCNV2 169522 broad.mit.edu 37 9 2718181 2718181 + Missense_Mutation SNP G G A rs140256288 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:2718181G>A ENST00000382082.3 + 1 680 c.442G>A c.(442-444)Gaa>Aaa p.E148K NM_133497.3 NP_598004.1 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 148 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 35 GBM - Glioblastoma multiforme(50;0.0257) GCAGACAGACGAATACTTCTT 0.657000 5 20 0 0 0.001168 0 0 GJA8 2703 broad.mit.edu 37 1 147380418 147380418 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:147380418G>A ENST00000240986.4 + 2 389 c.336G>A c.(334-336)gaG>gaA p.E112E GJA8_ENST00000369235.1_Silent_p.E112E NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 112 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) GCGAGGCGGAGGAGCTGGGCC 0.652000 23 38 0 0 0.012319 0 0 HLA-DPB1 3115 broad.mit.edu 37 6 33052869 33052869 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:33052869C>T ENST00000418931.2 + 3 623 c.507C>T c.(505-507)gtC>gtT p.V169V NM_002121.5 NP_002112.3 P04440 DPB1_HUMAN major histocompatibility complex, class II, DP beta 1 169 Beta-2.|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 membrane|lysosomal membrane|MHC class II protein complex cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 11 CAGCTGGGGTCGTGTCCACCA 0.557000 28 51 0 0 0.012213 0 0 LOC440040 440040 broad.mit.edu 37 11 49805603 49805603 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:49805603G>A ENST00000527477.1 + 0 1291 GGTCTAGTGGGAGAATTTCTG 0.512000 14 31 0 0 0.004007 0 0 OR5AK2 390181 broad.mit.edu 37 11 56756661 56756661 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:56756661G>A ENST00000326855.2 + 1 315 c.273G>A c.(271-273)ttG>ttA p.L91L NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 AAAAGAATTTGATGTTATTTC 0.383000 12 44 0 0 0.013537 0 0 KIF20B 9585 broad.mit.edu 37 10 91503565 91503565 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:91503565G>A ENST00000416354.1 + 22 4078 c.4005_splice c.e22-1 p.V1336_splice KIF20B_ENST00000371728.3_Splice_Site_p.V1306_splice|KIF20B_ENST00000260753.4_Splice_Site_p.V1266_splice|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Splice_Site_p.V1306_splice Q96Q89 KI20B_HUMAN kinesin family member 20B 1306 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 TATTTTGTAGGTATCTGTAAT 0.289000 9 32 0 0 0.006214 0 0 LTBP1 4052 broad.mit.edu 37 2 33540282 33540282 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:33540282C>T ENST00000404816.2 + 24 4029 c.3676C>T c.(3676-3678)Cat>Tat p.H1226Y LTBP1_ENST00000390003.4_Missense_Mutation_p.H901Y|LTBP1_ENST00000402934.1_Missense_Mutation_p.H847Y|LTBP1_ENST00000407925.1_Missense_Mutation_p.H900Y|LTBP1_ENST00000354476.3_Missense_Mutation_p.H1227Y|LTBP1_ENST00000272273.5_Missense_Mutation_p.H166Y|LTBP1_ENST00000418533.2_Missense_Mutation_p.H900Y|LTBP1_ENST00000404525.1_Missense_Mutation_p.H847Y Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1226 EGF-like 12; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GGGTTCTTTCCATTGTGTCTG 0.413000 14 29 0 0 0.004990 0 0 FRMPD3 84443 broad.mit.edu 37 X 106788969 106788969 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:106788969C>T ENST00000276185.4 + 6 399 c.399C>T c.(397-399)tcC>tcT p.S133S FRMPD3-AS1_ENST00000415252.1_RNA|FRMPD3_ENST00000477796.1_3'UTR Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 133 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 TTTTCCAGTCCCCCAAATCTG 0.468000 16 3 0 0 0.008871 0 0 SSMEM1 136263 broad.mit.edu 37 7 129856265 129856265 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:129856265G>A ENST00000297819.3 + 3 741 c.690G>A c.(688-690)gaG>gaA p.E230E NM_145268.3 NP_660311.1 serine-rich single-pass membrane protein 1 ACAGTCAAGAGGAAAGTTCCA 0.398000 31 127 0 0 0.003755 0 0 LAMB1 3912 broad.mit.edu 37 7 107600245 107600245 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:107600245G>A ENST00000393561.1 - 17 2605 c.2421C>T c.(2419-2421)tcC>tcT p.S807S LAMB1_ENST00000393560.1_Silent_p.S783S|LAMB1_ENST00000222399.6_Silent_p.S783S P07942 LAMB1_HUMAN laminin, beta 1 783 Laminin EGF-like 6. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GATCACACACGGAACTTAACG 0.572000 4 18 0 0 0.009096 0 0 OR56B1 387748 broad.mit.edu 37 11 5758155 5758155 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:5758155C>T ENST00000317121.3 + 1 475 c.409C>T c.(409-411)Cac>Tac p.H137Y TRIM5_ENST00000380027.1_Intron NM_001005180.2 NP_001005180.1 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, member 1 137 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) GGCTATTTGTCACCCTCTTCG 0.443000 10 31 0 0 0.008291 0 0 CACHD1 57685 broad.mit.edu 37 1 65119465 65119465 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:65119465T>A ENST00000371073.2 + 11 1565 c.1565T>A c.(1564-1566)cTt>cAt p.L522H CACHD1_ENST00000290039.5_Missense_Mutation_p.L471H|CACHD1_ENST00000495994.1_3'UTR Q5VU97 CAHD1_HUMAN cache domain containing 1 522 Cache 1. calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 CACCCATCTCTTACCAGGCCA 0.338000 51 117 0 0 0.014410 0 0 TPP1 1200 broad.mit.edu 37 11 6636428 6636428 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:6636428G>A ENST00000533371.1 - 10 1468 c.670C>T c.(670-672)Ccc>Tcc p.P224S TPP1_ENST00000299427.6_Missense_Mutation_p.P467S O14773 TPP1_HUMAN tripeptidyl peptidase I 467 bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis lysosome|melanosome|soluble fraction metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131) CATGGAATGGGCACTCTGTTG 0.562000 26 80 0 0 0.003954 0 0 ITGA8 8516 broad.mit.edu 37 10 15614330 15614330 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:15614330G>A ENST00000378076.3 - 25 2870 c.2517C>T c.(2515-2517)atC>atT p.I839I NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 839 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 CCACCTCCAGGATGGTGTCAC 0.443000 12 51 0 0 0.001855 0 0 GARNL3 84253 broad.mit.edu 37 9 130117638 130117638 + Missense_Mutation SNP C C T rs145626536 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:130117638C>T ENST00000373387.4 + 20 2174 c.1822C>T c.(1822-1824)Cgg>Tgg p.R608W GARNL3_ENST00000435213.2_Missense_Mutation_p.R586W|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000314904.5_Missense_Mutation_p.R608W NM_032293.4 NP_115669.3 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 608 CNH. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2) 41 GGTTGCAATTCGGAATAAACT 0.468000 47 171 0 0 0.014410 0 0 COL17A1 1308 broad.mit.edu 37 10 105819949 105819949 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:105819949C>T ENST00000353479.5 - 14 1359 c.1069G>A c.(1069-1071)Gag>Aag p.E357K COL17A1_ENST00000369733.3_Missense_Mutation_p.E357K|COL17A1_ENST00000393211.3_Missense_Mutation_p.E357K NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 357 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) AGCTCCATCTCCTTCTTGGCA 0.542000 17 41 0 0 0.006122 0 0 KMT2B 9757 broad.mit.edu 37 19 36214784 36214784 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:36214784C>T ENST00000420124.1 + 8 3210 c.3210C>T c.(3208-3210)ctC>ctT p.L1070L KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Silent_p.L1070L AGGACTCCCTCCTGCAGCGCA 0.716000 4 16 0 0 0.000602 0 0 CLIP2 7461 broad.mit.edu 37 7 73770739 73770739 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:73770739G>A ENST00000223398.6 + 5 1130 c.e5-1 CLIP2_ENST00000361545.5_Splice_Site|CLIP2_ENST00000395060.1_Splice_Site NM_003388.4 NP_003379.3 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 TGCTTCCACAGGTACTTCCAG 0.587000 30 78 0 0 0.007291 0 0 VIP 7432 broad.mit.edu 37 6 153076443 153076443 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:153076443C>T ENST00000367244.3 + 4 442 c.270C>T c.(268-270)ttC>ttT p.F90F VIP_ENST00000367243.3_Silent_p.F90F NM_003381.3 NP_003372.1 P01282 VIP_HUMAN vasoactive intestinal peptide 90 body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation extracellular region neuropeptide hormone activity haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1) 6 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144) CCAGTGACTTCAGTAAACTCT 0.308000 18 32 0 0 0.012319 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90499516 90499516 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:90499516C>T ENST00000325643.5 + 3 441 c.375C>T c.(373-375)atC>atT p.I125I NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CTTGCAGAATCCTCCTGAGGG 0.572000 6 37 0 0 0.001984 0 0 ZCCHC16 340595 broad.mit.edu 37 X 111697971 111697971 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:111697971G>A ENST00000340433.2 + 1 245 c.15G>A c.(13-15)acG>acA p.T5T NM_001004308.2 NP_001004308.2 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 5 nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 AGAAGTGCACGAAATCATCAT 0.458000 36 22 0 0 0.005524 0 0 WBP2 23558 broad.mit.edu 37 17 73843574 73843574 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:73843574G>A ENST00000591399.1 - 7 1073 c.649C>T c.(649-651)Cct>Tct p.P217S WBP2_ENST00000585462.1_Missense_Mutation_p.P195S|WBP2_ENST00000590221.1_Missense_Mutation_p.P213S|WBP2_ENST00000344296.4_Missense_Mutation_p.P195S|WBP2_ENST00000433525.2_Missense_Mutation_p.P172S|WBP2_ENST00000254806.3_Missense_Mutation_p.P217S Q969T9 WBP2_HUMAN WW domain binding protein 2 217 Pro-rich. protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 7 all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) TCACCTGCAGGAGTGGAGGGG 0.677000 8 2 0 0 0.006214 0 0 C9 735 broad.mit.edu 37 5 39289047 39289047 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:39289047G>A ENST00000263408.4 - 10 1518 c.1423C>T c.(1423-1425)Cct>Tct p.P475S NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 475 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) TTATATATAGGAGACAGCTGA 0.303000 10 17 0 0 0.008291 0 0 CYP4A22 284541 broad.mit.edu 37 1 47610592 47610592 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:47610592G>A ENST00000371891.3 + 9 1203 c.1172G>A c.(1171-1173)aGa>aAa p.R391K CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.R293K|CYP4A22_ENST00000294337.3_Missense_Mutation_p.R391K NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 391 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 GGCATTGGAAGAGAGCTCAGC 0.577000 13 26 0 0 0.007413 0 0 ZNF45 7596 broad.mit.edu 37 19 44418226 44418226 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:44418226G>A ENST00000269973.5 - 10 2452 c.1362C>T c.(1360-1362)agC>agT p.S454S RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Silent_p.S454S NM_003425.3 NP_003416.1 Q02386 ZNF45_HUMAN zinc finger protein 45 454 multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 17 TTGAGGCCTGGCTGAAGCCCT 0.478000 12 35 0 0 0.002450 0 0 TRAV13-2 28670 broad.mit.edu 37 14 22386364 22386364 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:22386364G>A ENST00000390439.2 + 0 2 AGGAATACCCGATGATGGAAG 0.388000 17 40 0 0 0.004990 0 0 KLHL14 57565 broad.mit.edu 37 18 30321904 30321904 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:30321904C>T ENST00000359358.4 - 3 1494 c.1056G>A c.(1054-1056)tgG>tgA p.W352* KLHL14_ENST00000358095.4_Nonsense_Mutation_p.W352* NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 352 cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 TGAGTATTTTCCATGTCTTCT 0.393000 7 13 0 0 0.001984 0 0 TBX18 9096 broad.mit.edu 37 6 85446756 85446756 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:85446756C>T ENST00000369663.5 - 8 1808 c.1471G>A c.(1471-1473)Gga>Aga p.G491R TBX18_ENST00000606784.1_Intron NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 491 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) GGGGACATTCCCGAAATCTGC 0.532000 49 114 0 0 0.014410 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95513801 95513801 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:95513801C>T ENST00000432432.2 - 0 810 NR_040113.1 TTCTGCATCTCGTCCACACAT 0.358000 45 469 0 0 0.014410 0 0 SERPINB12 89777 broad.mit.edu 37 18 61228387 61228387 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:61228387G>A ENST00000382768.1 + 4 514 c.514G>A c.(514-516)Gaa>Aaa p.E172K SERPINB12_ENST00000269491.1_Missense_Mutation_p.E152K Q96P63 SPB12_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 12 152 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 AAAAAACCCTGAAAAATCCAG 0.373000 18 45 0 0 0.006122 0 0 FAM129C 199786 broad.mit.edu 37 19 17653061 17653061 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:17653061G>A ENST00000335393.4 + 11 1518 c.1380G>A c.(1378-1380)ggG>ggA p.G460G FAM129C_ENST00000332386.5_Silent_p.G460G|FAM129C_ENST00000300971.2_Silent_p.G460G|FAM129C_ENST00000601861.1_Silent_p.G429G|FAM129C_ENST00000449408.2_Silent_p.G186G|FAM129C_ENST00000599164.1_Silent_p.G429G|FAM129C_ENST00000600871.1_Silent_p.G406G|FAM129C_ENST00000595684.1_Silent_p.G460G|FAM129C_ENST00000352727.3_Silent_p.G460G|FAM129C_ENST00000599124.1_Silent_p.G429G NM_173544.4 NP_775815.2 Q86XR2 NIBL2_HUMAN family with sequence similarity 129, member C 460 autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1) 33 GCTTTCTGGGGATGCAGAGCC 0.637000 74 120 0 0 0.014410 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83319290 83319290 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:83319290G>A ENST00000262752.2 - 22 2240 c.2233C>T c.(2233-2235)Ctg>Ttg p.L745L RPS6KA6_ENST00000543399.1_Silent_p.L745L NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 745 axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.L745L(1) 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 AAATCTTACAGGCCAGTTGAT 0.448000 8 3 0 0 0.003080 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962340 73962340 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:73962340G>A ENST00000373468.1 - 3 2703 c.2052C>T c.(2050-2052)agC>agT p.S684S KIAA2022_ENST00000055682.5_Silent_p.S684S Q5QGS0 K2022_HUMAN KIAA2022 684 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 CATTTGCACAGCTAGGAGCAC 0.448000 17 5 0 0 0.004007 0 0 KLK5 25818 broad.mit.edu 37 19 51452009 51452009 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:51452009G>A ENST00000336334.3 - 5 965 c.613C>T c.(613-615)Cag>Tag p.Q205* KLK5_ENST00000593428.1_Nonsense_Mutation_p.Q205*|KLK5_ENST00000391809.2_Nonsense_Mutation_p.Q205* NM_012427.4 NP_036559.1 Q9Y337 KLK5_HUMAN kallikrein-related peptidase 5 205 Peptidase S1. epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis extracellular space protein binding|serine-type endopeptidase activity NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888) TTCAAGCACTGGAGGACCTTA 0.502000 8 59 0 0 0.003080 0 0 NUDCD1 84955 broad.mit.edu 37 8 110255463 110255463 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:110255463G>A ENST00000239690.4 - 10 1901 c.1527C>T c.(1525-1527)gcC>gcT p.A509A NUDCD1_ENST00000427660.2_Silent_p.A480A NM_032869.3 NP_116258.2 Q96RS6 NUDC1_HUMAN NudC domain containing 1 509 p.A509A(1) breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1) 25 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;1.56e-12) ACTCACAAAGGGCTGCATACG 0.438000 42 128 0 0 0.006999 0 0 KCNJ3 3760 broad.mit.edu 37 2 155555701 155555701 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:155555701C>T ENST00000295101.2 + 1 891 c.414C>T c.(412-414)atC>atT p.I138I KCNJ3_ENST00000544049.1_Silent_p.I138I NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 138 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) TCTTCTTCATCGAGACGGAGG 0.567000 6 25 0 0 0.001168 0 0 MICALL2 79778 broad.mit.edu 37 7 1482016 1482016 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:1482016A>G ENST00000297508.7 - 7 1698 c.1523T>C c.(1522-1524)cTt>cCt p.L508P MICALL2_ENST00000405088.4_Missense_Mutation_p.L296P NM_182924.3 NP_891554.1 Q8IY33 MILK2_HUMAN MICAL-like 2 508 cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) AGGGAGGCCAAGCACCCGGGG 0.632000 70 130 0 0 0.014410 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48585988 48585988 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:48585988C>T ENST00000323776.5 + 1 244 c.82C>T c.(82-84)Ctc>Ttc p.L28F MYCBPAP_ENST00000419930.1_Missense_Mutation_p.L28F|MYCBPAP_ENST00000436259.2_5'UTR NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 0 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) GCCTCGGTGTCTCTGGGCCGG 0.657000 4 1 0 0 0.009096 0 0 CAMTA1 23261 broad.mit.edu 37 1 7724669 7724669 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:7724669G>A ENST00000303635.7 + 9 2269 c.2062G>A c.(2062-2064)Ggg>Agg p.G688R CAMTA1_ENST00000439411.2_Missense_Mutation_p.G688R NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 688 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) GACGGCAGAAGGGGAGGTCAC 0.637000 T WWTR1 epitheliod hemangioendothelioma 25 45 0 0 0.003954 0 0 CCDC88C 440193 broad.mit.edu 37 14 91760556 91760556 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:91760556T>A ENST00000389857.6 - 23 4159 c.4073A>T c.(4072-4074)gAg>gTg p.E1358V NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 1358 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) CTCCTTGTTCTCCATGTTCTG 0.542000 53 86 0 0 0.014410 0 0 MUC17 140453 broad.mit.edu 37 7 100683171 100683171 + Missense_Mutation SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:100683171C>A ENST00000306151.4 + 3 8538 c.8474C>A c.(8473-8475)tCt>tAt p.S2825Y NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2825 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) GTGGCCAGTTCTGAGGCTGGC 0.493000 82 152 3.77845e-26 4.15181e-26 0.014410 1 0 CSMD1 64478 broad.mit.edu 37 8 3165891 3165891 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:3165891G>A ENST00000520002.1 - 25 4324 c.3769C>T c.(3769-3771)Ctg>Ttg p.L1257L CSMD1_ENST00000602557.1_Silent_p.L1257L|CSMD1_ENST00000542608.1_Silent_p.L1256L|CSMD1_ENST00000400186.3_Silent_p.L1257L|CSMD1_ENST00000602723.1_Silent_p.L1257L|CSMD1_ENST00000539096.1_Silent_p.L1256L|CSMD1_ENST00000537824.1_Silent_p.L1256L Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1257 Sushi 7. 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) AAACAGGTCAGGGTGTTGCTG 0.527000 9 15 0 0 0.004482 0 0 ZNF815P 401303 broad.mit.edu 37 7 5879594 5879594 + RNA SNP C C G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:5879594C>G ENST00000421890.1 + 0 527 CACTGTCATTCGGGGACGTGG 0.567000 4 4 0 0 0.009096 0 0 PPP1R3F 89801 broad.mit.edu 37 X 49143278 49143278 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:49143278C>T ENST00000055335.6 + 4 2142 c.2126C>T c.(2125-2127)cCc>cTc p.P709L PPP1R3F_ENST00000495799.1_Missense_Mutation_p.P363L|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.P380L|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.P363L|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.P363L NM_033215.4 NP_149992.3 Q6ZSY5 PPR3F_HUMAN protein phosphatase 1, regulatory subunit 3F 709 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4) 27 Ovarian(276;0.236) CTCCTCAGTCCCTTGGGGGCC 0.587000 5 4 0 0 0.000602 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962509 73962509 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:73962509C>T ENST00000373468.1 - 3 2534 c.1883G>A c.(1882-1884)cGa>cAa p.R628Q KIAA2022_ENST00000055682.5_Missense_Mutation_p.R628Q Q5QGS0 K2022_HUMAN KIAA2022 628 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 TTTAGATTTTCGTTTGCGAGC 0.418000 8 6 0 0 0.003080 0 0 KRT28 162605 broad.mit.edu 37 17 38950184 38950184 + Missense_Mutation SNP C C T rs144664854 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:38950184C>T ENST00000306658.7 - 6 1158 c.1093G>A c.(1093-1095)Gag>Aag p.E365K NM_181535.3 NP_853513.2 Q7Z3Y7 K1C28_HUMAN keratin 28 365 Coil 2.|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) CCCTCGGTCTCGGTTCTGACC 0.567000 26 131 0 0 0.005443 0 0 CILP 8483 broad.mit.edu 37 15 65495794 65495794 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:65495794C>T ENST00000261883.4 - 7 1100 c.934G>A c.(934-936)Gtg>Atg p.V312M NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 312 Ig-like C2-type. negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 GGGTTCATCACCATGTATGGA 0.502000 9 25 0 0 0.004482 0 0 TRANK1 9881 broad.mit.edu 37 3 36874402 36874402 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:36874402C>T ENST00000429976.2 - 21 6787 c.6540G>A c.(6538-6540)tcG>tcA p.S2180S TRANK1_ENST00000428977.2_Silent_p.S1630S|TRANK1_ENST00000301807.6_Silent_p.S1630S O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2180 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 AGTTCATTTTCGACTGAACTA 0.378000 7 17 0 0 0.001984 0 0 KSR2 283455 broad.mit.edu 37 12 118105313 118105313 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:118105313G>A ENST00000425217.1 - 5 1104 c.1050C>T c.(1048-1050)acC>acT p.T350T KSR2_ENST00000302438.5_Silent_p.T76T|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Silent_p.T379T NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 379 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GAACAGGAGGGGTGGAAGGCA 0.632000 8 6 0 0 0.003080 0 0 MCM5 4174 broad.mit.edu 37 22 35799484 35799484 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:35799484C>T ENST00000216122.4 + 4 526 c.372C>T c.(370-372)atC>atT p.I124I CTA-286B10.7_ENST00000417343.1_RNA|MCM5_ENST00000382011.5_Intron NM_006739.3 NP_006730.2 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 124 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 TCCAGGACATCCAGGTCATGC 0.632000 13 92 0 0 0.002450 0 0 SYNE1 23345 broad.mit.edu 37 6 152831412 152831412 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:152831412G>A ENST00000367255.5 - 8 1098 c.497C>T c.(496-498)cCa>cTa p.P166L SYNE1_ENST00000341594.5_Missense_Mutation_p.P166L|SYNE1_ENST00000367253.4_Missense_Mutation_p.P166L|SYNE1_ENST00000413186.2_Missense_Mutation_p.P166L|SYNE1_ENST00000448038.1_Missense_Mutation_p.P173L|SYNE1_ENST00000367248.3_Missense_Mutation_p.P173L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P173L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P166L|SYNE1_ENST00000466159.2_Missense_Mutation_p.P166L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 166 Actin-binding. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTTACTTGGTGGGCTGGGAGT 0.488000 HNSCC(10;0.0054) 23 60 0 0 0.014323 0 0 KCNT1 57582 broad.mit.edu 37 9 138683979 138683979 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:138683979C>T ENST00000298480.5 + 32 3817 c.3743C>T c.(3742-3744)cCc>cTc p.P1248L KCNT1_ENST00000488444.2_Missense_Mutation_p.P1227L|KCNT1_ENST00000263604.3_Missense_Mutation_p.P1222L|KCNT1_ENST00000490355.2_Missense_Mutation_p.P1226L|KCNT1_ENST00000371757.2_Missense_Mutation_p.P1227L|KCNT1_ENST00000487664.1_Missense_Mutation_p.P1203L|KCNT1_ENST00000486577.2_Missense_Mutation_p.P1205L|KCNT1_ENST00000491806.2_Missense_Mutation_p.P1213L B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 1227 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) TCCTGCAACCCCGAGACTCGC 0.667000 5 11 0 0 0.000602 0 0 RUNDC3A 10900 broad.mit.edu 37 17 42389994 42389994 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:42389994G>A ENST00000426726.3 + 2 428 c.154G>A c.(154-156)Gat>Aat p.D52N RUNDC3A_ENST00000590941.1_Missense_Mutation_p.D52N|RUNDC3A_ENST00000225441.7_Missense_Mutation_p.D52N|AC003102.3_ENST00000588097.1_RNA NM_001144825.1 NP_001138297.1 Q59EK9 RUN3A_HUMAN RUN domain containing 3A 52 Interaction with RAP2A (By similarity).|RUN. small GTPase mediated signal transduction small GTPase regulator activity large_intestine(1)|lung(1)|ovary(2) 4 Prostate(33;0.0233) BRCA - Breast invasive adenocarcinoma(366;0.189) GGAGCCCATCGATGACTCATC 0.597000 5 2 0 0 0.001984 0 0 LIPF 8513 broad.mit.edu 37 10 90427138 90427138 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:90427138C>T ENST00000394375.3 + 3 227 c.114C>T c.(112-114)agC>agT p.S38S LIPF_ENST00000238983.4_Silent_p.S28S|LIPF_ENST00000355843.2_Silent_p.S28S NM_001198829.1 NP_001185758.1 P07098 LIPG_HUMAN lipase, gastric 28 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6) 13 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) ATCCTGGAAGCCCTGAAGTGA 0.338000 7 28 0 0 0.003080 0 0 TRIM51 84767 broad.mit.edu 37 11 55653172 55653172 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:55653172G>A ENST00000449290.2 + 2 360 c.268G>A c.(268-270)Gag>Aag p.E90K NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 90 intracellular zinc ion binding TAGCTCTGAGGAGCAAATATG 0.493000 9 11 0 0 0.006214 0 0 HMCN1 83872 broad.mit.edu 37 1 186017874 186017874 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:186017874G>A ENST00000271588.4 + 42 6709 c.e42-1 HMCN1_ENST00000367492.2_Splice_Site NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TTTGTTTTCAGATTGAAGATG 0.313000 23 29 0 0 0.004656 0 0 MAP3K4 4216 broad.mit.edu 37 6 161529837 161529837 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:161529837C>T ENST00000392142.4 + 22 4330 c.4182C>T c.(4180-4182)ttC>ttT p.F1394F MAP3K4_ENST00000366920.2_Silent_p.F1390F|MAP3K4_ENST00000348824.7_Silent_p.F1340F|MAP3K4_ENST00000366919.2_Silent_p.F1344F NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1394 Protein kinase. activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) TGAAAATATTCGAAGGCATCA 0.423000 25 73 0 0 0.007291 0 0 SLC22A8 9376 broad.mit.edu 37 11 62766457 62766457 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:62766457G>A ENST00000336232.2 - 5 832 c.697C>T c.(697-699)Ccc>Tcc p.P233S SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000430500.2_Missense_Mutation_p.P233S|SLC22A8_ENST00000535878.1_Missense_Mutation_p.P110S|SLC22A8_ENST00000311438.8_Missense_Mutation_p.P233S|SLC22A8_ENST00000545207.1_Missense_Mutation_p.P142S NM_001184732.1|NM_001184736.1|NM_004254.3 NP_001171661.1|NP_001171665.1|NP_004245.2 Q8TCC7 S22A8_HUMAN solute carrier family 22 (organic anion transporter), member 8 233 response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 CGCCACTGGGGGATGGCGTAG 0.567000 8 40 0 0 0.004482 0 0 MATN3 4148 broad.mit.edu 37 2 20194161 20194161 + Missense_Mutation SNP T T G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:20194161T>G ENST00000407540.3 - 7 1366 c.1304A>C c.(1303-1305)gAa>gCa p.E435A AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Missense_Mutation_p.E393A NM_002381.4 NP_002372.1 O15232 MATN3_HUMAN matrilin 3 435 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTTCGTGCTTCCTCAGTGGC 0.398000 11 9 0 0 0.008291 0 0 F13B 2165 broad.mit.edu 37 1 197009650 197009650 + Splice_Site SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:197009650A>C ENST00000367412.1 - 11 1996 c.e11+1 F13B_ENST00000490002.1_Splice_Site NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 AAAACTTCTTACCTTTGTCTT 0.299000 14 24 0 0 0.001855 0 0 CLCNKA 1187 broad.mit.edu 37 1 16353031 16353031 + Splice_Site SNP G G T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:16353031G>T ENST00000375692.1 + 7 627 c.498_splice c.e7-1 p.G167_splice CLCNKA_ENST00000331433.4_Splice_Site_p.G167_splice|CLCNKA_ENST00000439316.2_Splice_Site_p.G124_splice|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Splice_Site_p.G167_splice P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 167 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) CCCTCTGCAGGGCCCTTTCGT 0.657000 10 54 6.40141e-05 6.9389e-05 0.010729 1 0 GPR107 57720 broad.mit.edu 37 9 132862932 132862932 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:132862932C>T ENST00000372406.1 + 11 1471 c.964C>T c.(964-966)Cag>Tag p.Q322* GPR107_ENST00000347136.6_Nonsense_Mutation_p.Q322*|GPR107_ENST00000372410.3_Nonsense_Mutation_p.Q322* NM_001136557.1 NP_001130029.1 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 322 integral to membrane endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 11 Ovarian(14;0.000531) CATCTCCTCCCAGGGCTTCCC 0.418000 19 55 0 0 0.002780 0 0 PRODH2 58510 broad.mit.edu 37 19 36290945 36290945 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:36290945G>A ENST00000301175.3 - 11 1623 c.1606C>T c.(1606-1608)Cac>Tac p.H536Y NM_021232.1 NP_067055.1 Q9UF12 PROD2_HUMAN proline dehydrogenase (oxidase) 2 536 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGGTGCTAGTGGGGTATCCTT 0.622000 6 16 0 0 0.001984 0 0 PALMD 54873 broad.mit.edu 37 1 100154504 100154504 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:100154504G>A ENST00000263174.4 + 7 1063 c.688G>A c.(688-690)Ggc>Agc p.G230S PALMD_ENST00000605497.1_Missense_Mutation_p.G230S NM_017734.4 NP_060204.1 Q9NP74 PALMD_HUMAN palmdelphin 230 regulation of cell shape cytoplasm|membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2) 31 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) AGCATACAATGGCACCGATGG 0.428000 39 86 0 0 0.006999 0 0 POP4 10775 broad.mit.edu 37 19 30104821 30104821 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:30104821C>T ENST00000585603.1 + 6 2770 c.468C>T c.(466-468)atC>atT p.I156I POP4_ENST00000221770.3_Silent_p.I32I|POP4_ENST00000392279.3_Silent_p.I75I|POP4_ENST00000591824.1_3'UTR O95707 RPP29_HUMAN processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) 156 mRNA cleavage|rRNA processing|tRNA processing nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease P activity|RNA binding breast(1)|endometrium(1)|lung(4) 6 Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225) TTACAGGAATCCTTCTACAGG 0.473000 13 40 0 0 0.003163 0 0 PALD1 27143 broad.mit.edu 37 10 72298652 72298652 + Missense_Mutation SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:72298652A>C ENST00000263563.6 + 13 1725 c.1457A>C c.(1456-1458)gAg>gCg p.E486A NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 CCACAGCGGGAGGACGATCTG 0.677000 6 25 0 0 0.001984 0 0 SNRPA 6626 broad.mit.edu 37 19 41269505 41269505 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:41269505C>T ENST00000243563.3 + 5 1164 c.614C>T c.(613-615)cCa>cTa p.P205L NM_004596.4 NP_004587.1 P09012 SNRPA_HUMAN small nuclear ribonucleoprotein polypeptide A 205 Pro-rich. nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) TCTGAGAATCCACCGAATCAC 0.562000 25 80 0 0 0.005443 0 0 KRT78 196374 broad.mit.edu 37 12 53239986 53239986 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:53239986C>T ENST00000359499.4 - 4 432 c.421G>A c.(421-423)Gaa>Aaa p.E141K KRT78_ENST00000304620.4_Missense_Mutation_p.E251K Q8N1N4 K2C78_HUMAN keratin 78 251 Coil 1A.|Rod. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 CTCACTTCTTCATTCAGATGC 0.547000 13 9 0 0 0.013537 0 0 GCN1L1 10985 broad.mit.edu 37 12 120576637 120576637 + Silent SNP G G A rs61733796 by1000genomes TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:120576637G>A ENST00000300648.6 - 46 6030 c.6018C>T c.(6016-6018)ctC>ctT p.L2006L NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 2006 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCGTGGGCACGAGGGATTCAG 0.557000 64 47 0 0 0.014410 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480965 140480965 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140480965G>A ENST00000231130.2 + 1 732 c.732G>A c.(730-732)caG>caA p.Q244Q AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 244 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) AATTTGCACAGCCGCTCTATG 0.507000 17 52 0 0 0.004990 0 0 SIX1 6495 broad.mit.edu 37 14 61115468 61115468 + Missense_Mutation SNP G G C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:61115468G>C ENST00000247182.6 - 1 712 c.440C>G c.(439-441)cCc>cGc p.P147R SIX1_ENST00000554986.1_Intron NM_005982.3 NP_005973.1 Q15475 SIX1_HUMAN SIX homeobox 1 147 branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development nucleolus|transcription factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.0201) CGATGGGTAGGGATTGTGCGC 0.627000 7 21 0 0 0.003080 0 0 WFDC12 128488 broad.mit.edu 37 20 43752764 43752764 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:43752764C>T ENST00000372785.3 - 2 239 c.222G>A c.(220-222)gtG>gtA p.V74V NM_080869.1 NP_543145.1 Q8WWY7 WFD12_HUMAN WAP four-disulfide core domain 12 74 WAP. defense response to bacterium extracellular region serine-type endopeptidase inhibitor activity endometrium(1)|large_intestine(2)|lung(2)|skin(1) 6 Myeloproliferative disorder(115;0.0122) CCAGTTCCTTCACAGGAATCA 0.542000 13 17 0 0 0.013537 0 0 AMPD1 270 broad.mit.edu 37 1 115215745 115215745 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:115215745G>A ENST00000369538.3 - 15 2368 c.2321C>T c.(2320-2322)tCa>tTa p.S774L AMPD1_ENST00000520113.2_Missense_Mutation_p.S778L|AMPD1_ENST00000353928.6_Missense_Mutation_p.S745L NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 745 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-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) Adenosine monophosphate(DB00131) TTATTCTGTTGATTTAAGACC 0.333000 6 13 0 0 0.001168 0 0 IQCF1 132141 broad.mit.edu 37 3 51929158 51929158 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:51929158G>A ENST00000310914.5 - 4 428 c.366C>T c.(364-366)tcC>tcT p.S122S NM_152397.2 NP_689610.2 Q8N6M8 IQCF1_HUMAN IQ motif containing F1 122 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) ACTCCTTCCGGGAGAAGGCCT 0.607000 9 74 0 0 0.006214 0 0 SLC28A1 9154 broad.mit.edu 37 15 85461766 85461766 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:85461766C>T ENST00000394573.1 + 10 1009 c.807C>T c.(805-807)atC>atT p.I269I SLC28A1_ENST00000537624.1_Silent_p.I269I|SLC28A1_ENST00000537216.1_Silent_p.I269I|SLC28A1_ENST00000537703.1_Silent_p.I191I|SLC28A1_ENST00000286749.3_Silent_p.I269I|SLC28A1_ENST00000538177.1_Silent_p.I269I NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 269 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) TTCTGCCCATCATTGTCTTTT 0.597000 18 81 0 0 0.010504 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060385 35060385 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:35060385C>T ENST00000373913.3 + 3 745 c.265C>T c.(265-267)Ccc>Tcc p.P89S DLGAP4_ENST00000339266.5_Missense_Mutation_p.P89S|DLGAP4_ENST00000401952.2_Missense_Mutation_p.P89S|DLGAP4_ENST00000373907.2_Missense_Mutation_p.P89S Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 89 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) GAGCCCCTTCCCCAGCCATGC 0.627000 16 30 0 0 0.003163 0 0 COL12A1 1303 broad.mit.edu 37 6 75857400 75857400 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:75857400C>T ENST00000322507.8 - 23 4717 c.4408G>A c.(4408-4410)Gaa>Aaa p.E1470K COL12A1_ENST00000483888.2_Missense_Mutation_p.E1470K|COL12A1_ENST00000345356.6_Missense_Mutation_p.E306K|COL12A1_ENST00000416123.2_Missense_Mutation_p.E1470K NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1470 Fibronectin type-III 9. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CAGGTTTTTTCTGTCCCCTTC 0.363000 13 83 0 0 0.002450 0 0 MOG 4340 broad.mit.edu 37 6 29638549 29638549 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:29638549G>A ENST00000376894.4 + 7 899 c.781G>A c.(781-783)Gag>Aag p.E261K MOG_ENST00000483013.1_Intron|MOG_ENST00000376898.3_Intron|MOG_ENST00000376891.4_Intron|MOG_ENST00000376888.2_Intron|MOG_ENST00000416766.2_Intron|MOG_ENST00000376917.3_Intron|MOG_ENST00000490427.1_Intron|MOG_ENST00000396701.2_Intron|MOG_ENST00000494692.1_Intron|MOG_ENST00000376902.3_Intron|MOG_ENST00000533330.2_Intron|MOG_ENST00000396704.3_Intron|MOG_ENST00000431798.2_Intron Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein 0 cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 CCAGGAAAGGGAGACAGAAGC 0.468000 7 9 0 0 0.001984 0 0 PTH2R 5746 broad.mit.edu 37 2 209353869 209353869 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:209353869C>T ENST00000272847.2 + 11 1422 c.1209C>T c.(1207-1209)tcC>tcT p.S403S PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 403 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) TCTTCAACTCCTTTCAGGTAA 0.468000 18 31 0 0 0.007413 0 0 SYT3 84258 broad.mit.edu 37 19 51133407 51133407 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:51133407G>A ENST00000338916.4 - 3 1329 c.696C>T c.(694-696)ccC>ccT p.P232P SYT3_ENST00000593901.1_Silent_p.P232P|SYT3_ENST00000600079.1_Silent_p.P232P|SYT3_ENST00000544769.1_Silent_p.P232P NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III 232 cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) GCTGGGTGAGGGGTCGGGGCA 0.647000 10 14 0 0 0.008291 0 0 EPHA3 2042 broad.mit.edu 37 3 89456471 89456471 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:89456471G>A ENST00000336596.2 + 8 1872 c.1647G>A c.(1645-1647)gcG>gcA p.A549A EPHA3_ENST00000494014.1_Silent_p.A549A NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 549 extracellular region|integral to plasma membrane ATP binding p.A549A(1) NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CCATTTCAGCGGCAGTAGCAA 0.398000 TSP Lung(6;0.00050) 26 27 0 0 0.012213 0 0 IGHV2-5 28457 broad.mit.edu 37 14 106494363 106494363 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:106494363G>A ENST00000390597.2 - 0 148 AGAACCCAGAGAAGGTGCAGG 0.557000 17 23 0 0 0.004990 0 0 RHOT2 89941 broad.mit.edu 37 16 720927 720927 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:720927C>T ENST00000315082.4 + 10 789 c.675C>T c.(673-675)gcC>gcT p.A225A RHOT2_ENST00000569943.2_3'UTR NM_138769.2 NP_620124.1 Q8IXI1 MIRO2_HUMAN ras homolog family member T2 225 apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1) 13 Hepatocellular(780;0.0218) CCCCGCAGGCCCTGGAGGACG 0.677000 11 13 0 0 0.010729 0 0 NFIL3 4783 broad.mit.edu 37 9 94172655 94172655 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:94172655G>A ENST00000297689.3 - 2 756 c.362C>T c.(361-363)tCa>tTa p.S121L NM_005384.2 NP_005375.2 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 121 Leucine-zipper. circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 16 TAATTTTAGTGAAAGCAGCTC 0.383000 20 54 0 0 0.007413 0 0 EZR 7430 broad.mit.edu 37 6 159206478 159206478 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:159206478G>A ENST00000367075.3 - 5 498 c.330C>T c.(328-330)atC>atT p.I110I EZR_ENST00000476189.1_5'UTR|EZR_ENST00000337147.7_Silent_p.I110I|EZR_ENST00000392177.4_Silent_p.I78I NM_001111077.1 NP_001104547.1 P15311 EZRI_HUMAN ezrin 110 FERM. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding EZR/ROS1(4) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2) 15 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) CATCGCTAAGGATTCCTTCCT 0.522000 T ROS1 NSCLC 15 39 0 0 0.003163 0 0 RAP1A 5906 broad.mit.edu 37 1 112240080 112240080 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:112240080C>T ENST00000369709.3 + 4 323 c.144C>T c.(142-144)tgC>tgT p.C48C RAP1A_ENST00000545460.1_Silent_p.C48C|RAP1A_ENST00000494982.1_3'UTR|RAP1A_ENST00000356415.1_Silent_p.C48C|RAP1A_ENST00000436150.2_Silent_p.C48C NM_002884.2 NP_002875.1 P62834 RAP1A_HUMAN RAP1A, member of RAS oncogene family 48 activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion cytosol|plasma membrane GTP binding|GTPase activity endometrium(1)|large_intestine(2)|lung(3) 6 all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021) Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141) AAGTCGATTGCCAACAGTGTA 0.373000 10 72 0 0 0.010729 0 0 CTNND2 1501 broad.mit.edu 37 5 11111000 11111000 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:11111000C>T ENST00000304623.8 - 14 2622 c.2433G>A c.(2431-2433)aaG>aaA p.K811K CTNND2_ENST00000503622.1_Silent_p.K474K|CTNND2_ENST00000511377.1_Silent_p.K720K|CTNND2_ENST00000458100.2_Silent_p.K378K|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.K811K NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 811 Poly-Lys. 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 TCTTCTTCTTCTTGCCCCAGC 0.512000 53 154 0 0 0.014410 0 0 DENND2A 27147 broad.mit.edu 37 7 140301735 140301735 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:140301735C>T ENST00000275884.6 - 2 880 c.463G>A c.(463-465)Gat>Aat p.D155N DENND2A_ENST00000496613.1_Missense_Mutation_p.D155N|DENND2A_ENST00000492720.1_Missense_Mutation_p.D155N|DENND2A_ENST00000537639.1_Missense_Mutation_p.D155N Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 155 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) GAGAGGGGATCGTTCTGAAAG 0.602000 28 53 0 0 0.004656 0 0 SH3RF2 153769 broad.mit.edu 37 5 145442197 145442197 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:145442197C>T ENST00000511217.1 + 9 2175 c.2123C>T c.(2122-2124)gCt>gTt p.A708V SH3RF2_ENST00000359120.4_Missense_Mutation_p.A708V|SH3RF2_ENST00000511705.1_3'UTR Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 708 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGAAAGTCAGCTCTTGGCAAG 0.592000 9 35 0 0 0.004482 0 0 FCER1A 2205 broad.mit.edu 37 1 159277696 159277696 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:159277696C>T ENST00000368115.1 + 6 847 c.748C>T c.(748-750)Cct>Tct p.P250S FCER1A_ENST00000368114.1_Missense_Mutation_p.P217S NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 250 integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) GAACCCACATCCTAAGCCAAA 0.383000 7 28 0 0 0.001984 0 0 NACA 4666 broad.mit.edu 37 12 57111841 57111841 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:57111841G>A ENST00000454682.1 - 3 3754 c.3473C>T c.(3472-3474)tCc>tTc p.S1158F NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TCCTTTTGGGGAAGGAGGAGT 0.627000 T BCL6 NHL 55 60 0 0 0.014410 0 0 ANK1 286 broad.mit.edu 37 8 41566470 41566470 + Silent SNP G G A rs144904116 by1000genomes TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:41566470G>A ENST00000396942.1 - 17 1907 c.1824C>T c.(1822-1824)atC>atT p.I608I ANK1_ENST00000352337.4_Silent_p.I608I|ANK1_ENST00000379758.2_Silent_p.I608I|ANK1_ENST00000347528.4_Silent_p.I608I|ANK1_ENST00000289734.7_Silent_p.I608I|ANK1_ENST00000265709.8_Silent_p.I641I|ANK1_ENST00000396945.1_Silent_p.I608I P16157 ANK1_HUMAN ankyrin 1, erythrocytic 608 89 kDa domain. 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) GCTTGGCAGCGATGTGCAAAG 0.577000 13 28 0 0 0.001855 0 0 LINC00922 283867 broad.mit.edu 37 16 65345409 65345409 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:65345409C>T ENST00000569736.1 - 0 726 RP11-256I9.3_ENST00000562656.1_lincRNA NR_027755.1 ATGAACACTTCCTGCATGTGC 0.483000 34 129 0 0 0.004289 0 0 ZNF831 128611 broad.mit.edu 37 20 57771038 57771038 + Nonsense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:57771038A>T ENST00000371030.2 + 2 3853 c.3853A>T c.(3853-3855)Aaa>Taa p.K1285* NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1285 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CAAGCAGAGAAAACTGAAGAT 0.498000 39 60 0 0 0.006230 0 0 DHX29 54505 broad.mit.edu 37 5 54579186 54579186 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:54579186G>A ENST00000251636.5 - 11 1958 c.1810C>T c.(1810-1812)Cag>Tag p.Q604* RP11-506H20.1_ENST00000506435.1_RNA NM_019030.2 NP_061903.2 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 604 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|translation initiation factor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2) 46 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) TGTGGTACCTGAGTACTTTTA 0.418000 24 43 0 0 0.014323 0 0 FASTKD2 22868 broad.mit.edu 37 2 207655359 207655359 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:207655359C>T ENST00000236980.6 + 11 2310 c.1962C>T c.(1960-1962)ttC>ttT p.F654F FASTKD2_ENST00000403094.3_Silent_p.F654F|FASTKD2_ENST00000402774.3_Silent_p.F654F NM_014929.3 NP_055744.2 Q9NYY8 FAKD2_HUMAN FAST kinase domains 2 654 RAP. apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2) 21 LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138) CCAGAGGATTCCTTGCTATGA 0.353000 62 94 0 0 0.014410 0 0 NCOA2 10499 broad.mit.edu 37 8 71069324 71069324 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:71069324G>A ENST00000452400.2 - 11 1457 c.1276C>T c.(1276-1278)Ccc>Tcc p.P426S NCOA2_ENST00000524223.1_Intron NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 426 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) CCATTTATGGGAAAATTTATA 0.517000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 7 27 0 0 0.003080 0 0 RFTN1 23180 broad.mit.edu 37 3 16419226 16419226 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:16419226C>T ENST00000334133.4 - 5 1097 c.826_splice c.e5+1 p.G275_splice RFTN1_ENST00000432519.1_Splice_Site_p.G239_splice NM_015150.1 NP_055965.1 Q14699 RFTN1_HUMAN raftlin, lipid raft linker 1 275 plasma membrane central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 38 CATACTTACTCCCTGAGAGTG 0.483000 14 61 0 0 0.006122 0 0 LAMB1 3912 broad.mit.edu 37 7 107616285 107616285 + Silent SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:107616285A>G ENST00000393561.1 - 8 1294 c.1110T>C c.(1108-1110)ttT>ttC p.F370F LAMB1_ENST00000393560.1_Silent_p.F346F|LAMB1_ENST00000222399.6_Silent_p.F346F P07942 LAMB1_HUMAN laminin, beta 1 346 Laminin EGF-like 2. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGCCATGTCAAAGTGACAAG 0.507000 9 30 0 0 0.004482 0 0 ABCA12 26154 broad.mit.edu 37 2 215872484 215872484 + Silent SNP G G A rs142281650 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:215872484G>A ENST00000272895.7 - 19 2778 c.2559C>T c.(2557-2559)ttC>ttT p.F853F ABCA12_ENST00000389661.4_Silent_p.F535F NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 853 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TTAACAGATGGAAGGAATTCA 0.378000 14 36 0 0 0.003163 0 0 MROH2B 133558 broad.mit.edu 37 5 41052574 41052574 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:41052574C>T ENST00000399564.4 - 12 1673 c.1223G>A c.(1222-1224)aGg>aAg p.R408K MROH2B_ENST00000506092.2_5'UTR NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TACCAGATTCCTGTTCAACGT 0.388000 7 66 0 0 0.004482 0 0 ZEB1 6935 broad.mit.edu 37 10 31810601 31810601 + Missense_Mutation SNP G G C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:31810601G>C ENST00000446923.2 + 7 2681 c.2290G>C c.(2290-2292)Gac>Cac p.D764H ZEB1_ENST00000320985.10_Missense_Mutation_p.D780H|ZEB1_ENST00000361642.5_Missense_Mutation_p.D781H|ZEB1_ENST00000542815.3_Missense_Mutation_p.D713H|ZEB1_ENST00000560721.2_Missense_Mutation_p.D760H|ZEB1_ENST00000559858.1_3'UTR NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 780 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) GCCACAAAAGGACAGTTGTGT 0.428000 9 21 0 0 0.008291 0 0 THBS4 7060 broad.mit.edu 37 5 79363879 79363879 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:79363879C>T ENST00000350881.2 + 10 1468 c.1278C>T c.(1276-1278)aaC>aaT p.N426N THBS4_ENST00000511733.1_Silent_p.N335N|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 426 EGF-like 4. endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) ACTGCAGAAACCCAGAGCTGA 0.483000 8 52 0 0 0.004482 0 0 TSPAN33 340348 broad.mit.edu 37 7 128807381 128807381 + Missense_Mutation SNP C C G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:128807381C>G ENST00000289407.4 + 7 839 c.730C>G c.(730-732)Cta>Gta p.L244V NM_178562.3 NP_848657.1 Q86UF1 TSN33_HUMAN tetraspanin 33 244 integral to membrane NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 TGGTGTGGCTCTAGGCCTGGC 0.493000 4 137 0 0 0.009096 0 0 ZNF319 57567 broad.mit.edu 37 16 58031774 58031774 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:58031774G>A ENST00000299237.2 - 2 1018 c.396C>T c.(394-396)ttC>ttT p.F132F NM_020807.1 NP_065858.1 Q9P2F9 ZN319_HUMAN zinc finger protein 319 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1) 8 CCCCACAGACGAAGGGCTTCT 0.572000 17 41 0 0 0.006122 0 0 MAGEA4 4103 broad.mit.edu 37 X 151092726 151092726 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:151092726T>A ENST00000370340.3 + 3 857 c.590T>A c.(589-591)tTt>tAt p.F197Y MAGEA4_ENST00000393921.1_Missense_Mutation_p.F197Y|MAGEA4_ENST00000276344.2_Missense_Mutation_p.F197Y|MAGEA4_ENST00000393920.1_Missense_Mutation_p.F197Y|MAGEA4_ENST00000370337.4_Missense_Mutation_p.F197Y|MAGEA4_ENST00000360243.2_Missense_Mutation_p.F197Y|MAGEA4_ENST00000370335.1_Missense_Mutation_p.F197Y P43358 MAGA4_HUMAN melanoma antigen family A, 4 197 MAGE. protein binding breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2) 27 Acute lymphoblastic leukemia(192;6.56e-05) AATCAGATCTTTCCCAAGACA 0.562000 12 50 0 0 0.010729 0 0 HIST1H2BK 85236 broad.mit.edu 37 6 27114472 27114472 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:27114472C>T ENST00000396891.4 - 1 147 c.106G>A c.(106-108)Gag>Aag p.E36K HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.E36K NM_080593.2 NP_542160.1 O60814 H2B1K_HUMAN histone cluster 1, H2bk 36 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 GAGTAGCTCTCCTTGCGGCTG 0.587000 23 150 0 0 0.007291 0 0 CFH 3075 broad.mit.edu 37 1 196694352 196694352 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:196694352G>A ENST00000367429.4 + 12 2038 c.1798G>A c.(1798-1800)Gga>Aga p.G600R NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 600 Sushi 10. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 CTGCAAACCAGGATTTACAAT 0.398000 14 30 0 0 0.003163 0 0 LAMA2 3908 broad.mit.edu 37 6 129663546 129663546 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:129663546G>A ENST00000421865.2 + 30 4419 c.4370G>A c.(4369-4371)gGa>gAa p.G1457E NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1457 Laminin EGF-like 15. 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) GGATACTATGGAATTGTCAAG 0.388000 30 56 0 0 0.012213 0 0 FRMD1 79981 broad.mit.edu 37 6 168458013 168458013 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:168458013C>T ENST00000283309.6 - 11 1478 c.1414G>A c.(1414-1416)Gaa>Aaa p.E472K FRMD1_ENST00000440994.2_Missense_Mutation_p.E404K|FRMD1_ENST00000537786.1_Missense_Mutation_p.E243K|FRMD1_ENST00000432403.1_5'UTR NM_024919.3 NP_079195.3 Q8N878 FRMD1_HUMAN FERM domain containing 1 472 cytoskeleton binding endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 19 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) GCTGTCATTTCCTGGATCTGC 0.662000 3 18 0 0 0.009096 0 0 C2orf40 84417 broad.mit.edu 37 2 106694260 106694260 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:106694260C>T ENST00000409944.1 + 5 448 c.217C>T c.(217-219)Cga>Tga p.R73* C2orf40_ENST00000238044.3_Nonsense_Mutation_p.R109* Q9H1Z8 AUGN_HUMAN chromosome 2 open reading frame 40 109 extracellular region|transport vesicle p.R109R(1) lung(7)|urinary_tract(1) 8 TAACAGAGATCGAAATGGACA 0.453000 21 58 0 0 0.003330 0 0 ECM1 1893 broad.mit.edu 37 1 150482192 150482192 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:150482192C>T ENST00000369047.4 + 3 302 c.177C>T c.(175-177)caC>caT p.H59H ECM1_ENST00000346569.6_Silent_p.H59H|ECM1_ENST00000369049.4_Silent_p.H59H|ECM1_ENST00000470432.1_3'UTR NM_004425.3 NP_004416.2 Q16610 ECM1_HUMAN extracellular matrix protein 1 59 angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1) 22 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CCATGGATCACCCTGACTCCT 0.597000 31 51 0 0 0.013726 0 0 LILRA2 11027 broad.mit.edu 37 19 55086930 55086930 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:55086930C>T ENST00000251377.3 + 6 996 c.863C>T c.(862-864)tCc>tTc p.S288F LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.S276F|LILRA2_ENST00000391738.3_Missense_Mutation_p.S288F|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S288F leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) GTGAGCCCCTCCCACGGGGGC 0.647000 22 40 0 0 0.010504 0 0 MAPK4 5596 broad.mit.edu 37 18 48255619 48255619 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:48255619G>A ENST00000400384.2 + 6 2195 c.1159G>A c.(1159-1161)Gcg>Acg p.A387T MAPK4_ENST00000540640.1_Missense_Mutation_p.A176T|MAPK4_ENST00000592595.1_3'UTR NM_002747.3 NP_002738.2 P31152 MK04_HUMAN mitogen-activated protein kinase 4 387 cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) CGCGGGTTCGGCGCCACTGGC 0.697000 6 22 0 0 0.001168 0 0 MUC16 94025 broad.mit.edu 37 19 9069097 9069097 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9069097C>T ENST00000397910.4 - 3 18552 c.18349G>A c.(18349-18351)Gat>Aat p.D6117N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6119 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.D6117Y(2)|p.D1750Y(1) 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 AATGTAGGATCATAGTAGGTG 0.493000 8 17 0 0 0.004482 0 0 SYT5 6861 broad.mit.edu 37 19 55687180 55687180 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:55687180G>A ENST00000354308.3 - 5 806 c.437C>T c.(436-438)cCc>cTc p.P146L SYT5_ENST00000590851.1_Missense_Mutation_p.P143L|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Missense_Mutation_p.P146L NM_003180.2 NP_003171.2 O00445 SYT5_HUMAN synaptotagmin V 146 C2 1. energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) CCGCACATAGGGGTCCGAGGA 0.627000 21 51 0 0 0.010504 0 0 OR4K14 122740 broad.mit.edu 37 14 20483095 20483095 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:20483095G>A ENST00000305045.2 - 1 257 c.258C>T c.(256-258)ttC>ttT p.F86F NM_001004712.1 NP_001004712.1 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, member 14 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6) 37 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) GATCACTAAGGAAATCCCTGA 0.507000 6 24 0 0 0.001984 0 0 DPY19L1 23333 broad.mit.edu 37 7 34982235 34982235 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:34982235G>A ENST00000310974.4 - 17 1486 c.1342C>T c.(1342-1344)Cat>Tat p.H448Y NM_015283.1 NP_056098.1 Q2PZI1 D19L1_HUMAN dpy-19-like 1 (C. elegans) 448 integral to membrane endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 31 ACCTCTCCATGATCAAACTGG 0.318000 10 29 0 0 0.010729 0 0 C12orf36 283422 broad.mit.edu 37 12 13529258 13529258 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:13529258C>T ENST00000318426.2 - 2 299 c.82G>A c.(82-84)Gaa>Aaa p.E28K C12orf36_ENST00000531049.1_5'UTR|C12orf36_ENST00000527705.2_Missense_Mutation_p.E28K|C12orf36_ENST00000539026.1_Missense_Mutation_p.E28K|C12orf36_ENST00000532841.1_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 7 11 0 0 0.001984 0 0 TBC1D1 23216 broad.mit.edu 37 4 38138951 38138951 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:38138951G>A ENST00000261439.4 + 20 3857 c.3502G>A c.(3502-3504)Gac>Aac p.D1168N TBC1D1_ENST00000508802.1_Missense_Mutation_p.D1159N|TBC1D1_ENST00000407365.1_3'UTR NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 1168 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 GCCCACGGGCGACTGACAGCT 0.662000 13 11 0 0 0.002450 0 0 BIN1 274 broad.mit.edu 37 2 127821520 127821520 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:127821520G>A ENST00000316724.5 - 8 1098 c.687C>T c.(685-687)tcC>tcT p.S229S BIN1_ENST00000348750.4_Silent_p.S198S|BIN1_ENST00000376113.2_Silent_p.S198S|BIN1_ENST00000409400.1_Silent_p.S198S|BIN1_ENST00000351659.3_Silent_p.S229S|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000259238.4_Silent_p.S198S|BIN1_ENST00000357970.3_Silent_p.S229S|BIN1_ENST00000393040.3_Silent_p.S198S|BIN1_ENST00000352848.3_Silent_p.S198S|BIN1_ENST00000393041.3_Silent_p.S198S|BIN1_ENST00000346226.3_Silent_p.S198S NM_139343.2 NP_647593.1 O00499 BIN1_HUMAN bridging integrator 1 229 BAR. cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development actin cytoskeleton|nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3) 24 Colorectal(110;0.0831) BRCA - Breast invasive adenocarcinoma(221;0.073) TGTTCCACAGGGACGGCAGCT 0.652000 8 42 0 0 0.003080 0 0 OR6F1 343169 broad.mit.edu 37 1 247875181 247875181 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:247875181G>A ENST00000302084.2 - 1 924 c.877C>T c.(877-879)Cgt>Tgt p.R293C RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TCCTTATTACGAAGCGTATAG 0.438000 10 85 0 0 0.001855 0 0 CGNL1 84952 broad.mit.edu 37 15 57730485 57730485 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:57730485G>A ENST00000281282.5 + 2 366 c.288G>A c.(286-288)gaG>gaA p.E96E NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 96 Head. myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) TGCCAAAGGAGAACAGTGAAG 0.498000 15 40 0 0 0.002450 0 0 CNBD1 168975 broad.mit.edu 37 8 88365873 88365873 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:88365873C>T ENST00000518476.1 + 10 1213 c.1162C>T c.(1162-1164)Caa>Taa p.Q388* NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 388 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 GAAAAGATCTCAAAAACTTGT 0.318000 10 30 0 0 0.013537 0 0 DPF2 5977 broad.mit.edu 37 11 65108524 65108524 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:65108524C>T ENST00000528416.1 + 3 414 c.281C>T c.(280-282)tCc>tTc p.S94F DPF2_ENST00000252268.4_Missense_Mutation_p.S94F|DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000415073.2_Missense_Mutation_p.S94F NM_006268.4 NP_006259.1 Q92785 REQU_HUMAN D4, zinc and double PHD fingers family 2 94 apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus nucleic acid binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1) 23 CCACGACTTTCCTTCCCATCT 0.587000 21 27 0 0 0.006320 0 0 CLDN15 24146 broad.mit.edu 37 7 100880830 100880830 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:100880830G>A ENST00000401528.1 - 2 1158 c.33C>T c.(31-33)ttC>ttT p.F11F CLDN15_ENST00000308344.5_Silent_p.F11F|CLDN15_ENST00000433422.1_5'UTR NM_001185080.1 NP_001172009.1 P56746 CLD15_HUMAN claudin 15 11 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 10 Lung NSC(181;0.168)|all_lung(186;0.215) CAGTTGCCATGAAGAAGCCAA 0.607000 5 20 0 0 0.000602 0 0 PLXNC1 10154 broad.mit.edu 37 12 94642108 94642108 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:94642108C>T ENST00000258526.4 + 14 2947 c.2698C>T c.(2698-2700)Caa>Taa p.Q900* NM_005761.2 NP_005752.1 O60486 PLXC1_HUMAN plexin C1 900 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TACTAGAAATCAAGATCTTAC 0.373000 21 14 0 0 0.012319 0 0 GRXCR2 643226 broad.mit.edu 37 5 145252280 145252280 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:145252280C>T ENST00000377976.1 - 1 251 c.252G>A c.(250-252)agG>agA p.R84R NM_001080516.1 NP_001073985.1 A6NFK2 GRCR2_HUMAN glutaredoxin, cysteine rich 2 84 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 ACACACTGATCCTCTGAGCAG 0.512000 8 39 0 0 0.003080 0 0 ZNF827 152485 broad.mit.edu 37 4 146824066 146824066 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:146824066G>A ENST00000508784.1 - 2 572 c.345C>T c.(343-345)tcC>tcT p.S115S ZNF827_ENST00000379448.4_Silent_p.S115S|ZNF827_ENST00000513320.1_Intron Q17R98 ZN827_HUMAN zinc finger protein 827 115 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) GGGGCTTGTTGGAGCCTGGGT 0.582000 4 27 0 0 0.009096 0 0 NEB 4703 broad.mit.edu 37 2 152507377 152507377 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:152507377C>T ENST00000397345.3 - 53 7140 c.6938G>A c.(6937-6939)cGa>cAa p.R2313Q NEB_ENST00000172853.10_Missense_Mutation_p.R2313Q|NEB_ENST00000603639.1_Missense_Mutation_p.R2313Q|NEB_ENST00000427231.2_Missense_Mutation_p.R2313Q|NEB_ENST00000604864.1_Missense_Mutation_p.R2313Q|NEB_ENST00000409198.1_Missense_Mutation_p.R2313Q NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 2313 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) AAGTTGCTTTCGGTAGCCTTG 0.393000 50 93 0 0 0.014410 0 0 LIMCH1 22998 broad.mit.edu 37 4 41648653 41648653 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:41648653C>T ENST00000313860.7 + 12 1462 c.1408C>T c.(1408-1410)Cat>Tat p.H470Y LIMCH1_ENST00000396595.3_Missense_Mutation_p.H316Y|LIMCH1_ENST00000508501.1_Missense_Mutation_p.H470Y|LIMCH1_ENST00000511496.1_Missense_Mutation_p.H311Y|LIMCH1_ENST00000512632.1_Missense_Mutation_p.H470Y|LIMCH1_ENST00000509277.1_Missense_Mutation_p.H304Y|LIMCH1_ENST00000514096.1_Missense_Mutation_p.H311Y|LIMCH1_ENST00000503057.1_Missense_Mutation_p.H855Y|LIMCH1_ENST00000512946.1_Missense_Mutation_p.H470Y|LIMCH1_ENST00000512820.1_Missense_Mutation_p.H458Y|LIMCH1_ENST00000513024.1_Missense_Mutation_p.H299Y|LIMCH1_ENST00000381753.4_Missense_Mutation_p.H304Y NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 470 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 GGAAAGAAGCCATTCAACAGA 0.493000 74 77 0 0 0.014410 0 0 MRPL44 65080 broad.mit.edu 37 2 224828523 224828523 + Missense_Mutation SNP G G C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:224828523G>C ENST00000258383.3 + 3 768 c.699G>C c.(697-699)aaG>aaC p.K233N NM_022915.3 NP_075066.1 Q9H9J2 RM44_HUMAN mitochondrial ribosomal protein L44 233 RNA processing mitochondrion|ribosome double-stranded RNA binding|protein binding|ribonuclease III activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008) AGATGTGGAAGATAATAAATC 0.348000 16 20 0 0 0.012319 0 0 SLC39A5 283375 broad.mit.edu 37 12 56625139 56625139 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:56625139C>T ENST00000266980.4 + 2 374 c.81C>T c.(79-81)ccC>ccT p.P27P SLC39A5_ENST00000454355.2_Silent_p.P27P NM_001135195.1 NP_001128667.1 Q6ZMH5 S39A5_HUMAN solute carrier family 39 (zinc transporter), member 5 27 zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GCTCAGTCCCCAACCTGGGCC 0.632000 62 41 0 0 0.014410 0 0 TTC39C 125488 broad.mit.edu 37 18 21694560 21694560 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:21694560G>A ENST00000540918.2 + 2 356 c.106G>A c.(106-108)Gaa>Aaa p.E36K RP11-799B12.2_ENST00000583782.1_RNA|TTC39C_ENST00000317571.3_Missense_Mutation_p.E343K|TTC39C_ENST00000304621.6_Missense_Mutation_p.E282K Q8N584 TT39C_HUMAN tetratricopeptide repeat domain 39C 343 binding breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 19 CACTGCTTTGGAACTTGCAGT 0.373000 11 41 0 0 0.001855 0 0 TIGD3 220359 broad.mit.edu 37 11 65123368 65123368 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:65123368C>T ENST00000309880.5 + 2 296 c.89C>T c.(88-90)tCc>tTc p.S30F NM_145719.2 NP_663771.1 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 30 HTH psq-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2) 17 TCCAAGATGTCCCAGTCGGAG 0.617000 28 48 0 0 0.007291 0 0 EGFR 1956 broad.mit.edu 37 7 55210029 55210029 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:55210029C>T ENST00000275493.2 + 2 316 c.139C>T c.(139-141)Cat>Tat p.H47Y EGFR_ENST00000420316.2_Missense_Mutation_p.H47Y|EGFR_ENST00000454757.2_5'UTR|EGFR_ENST00000455089.1_Missense_Mutation_p.H47Y|EGFR_ENST00000442591.1_Missense_Mutation_p.H47Y|EGFR_ENST00000344576.2_Missense_Mutation_p.H47Y|EGFR_ENST00000342916.3_Missense_Mutation_p.H47Y NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 47 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TTTTGAAGATCATTTTCTCAG 0.398000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 16 85 0 0 0.004007 0 0 CLCN2 1181 broad.mit.edu 37 3 184075213 184075213 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:184075213A>G ENST00000265593.4 - 8 1006 c.835T>C c.(835-837)Ttc>Ctc p.F279L EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000457512.1_Missense_Mutation_p.F279L|CLCN2_ENST00000344937.7_Missense_Mutation_p.F279L|CLCN2_ENST00000434054.2_Missense_Mutation_p.F235L|CLCN2_ENST00000423355.2_5'UTR NM_004366.5 NP_004357.3 P51788 CLCN2_HUMAN chloride channel, voltage-sensitive 2 279 chloride channel complex voltage-gated chloride channel activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) GCAGCGAAGAAGCCCCGCCAG 0.632000 21 75 0 0 0.002780 0 0 NRP2 8828 broad.mit.edu 37 2 206580992 206580992 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:206580992C>T ENST00000360409.3 + 3 1118 c.327C>T c.(325-327)gcC>gcT p.A109A NRP2_ENST00000355117.4_Silent_p.A109A|NRP2_ENST00000357118.4_Silent_p.A109A|NRP2_ENST00000417189.1_Silent_p.A109A|NRP2_ENST00000540841.1_Silent_p.A109A|NRP2_ENST00000272849.3_Silent_p.A109A|NRP2_ENST00000357785.5_Silent_p.A109A|NRP2_ENST00000540178.1_Silent_p.A109A|NRP2_ENST00000412873.2_Silent_p.A109A NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718.1|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 109 CUB 1. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 GGAACATCGCCCCGCCCACCA 0.587000 39 55 0 0 0.006230 0 0 TAF1L 138474 broad.mit.edu 37 9 32631765 32631765 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:32631765C>T ENST00000242310.4 - 1 3902 c.3813G>A c.(3811-3813)aaG>aaA p.K1271K NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1271 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CTTTCATTTTCTTGGGCTTCT 0.478000 16 59 0 0 0.004007 0 0 PPRC1 23082 broad.mit.edu 37 10 103900612 103900612 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:103900612C>T ENST00000278070.2 + 5 2386 c.2347C>T c.(2347-2349)Cca>Tca p.P783S PPRC1_ENST00000413464.2_Missense_Mutation_p.P783S NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 783 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GCCTAGCCTTCCAGAGACTCC 0.577000 7 34 0 0 0.003080 0 0 THADA 63892 broad.mit.edu 37 2 43625251 43625251 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:43625251G>A ENST00000405006.4 - 29 4437 c.4086C>T c.(4084-4086)tcC>tcT p.S1362S THADA_ENST00000405975.2_Silent_p.S1362S|THADA_ENST00000415080.2_Silent_p.S1043S|THADA_ENST00000330266.7_Intron|THADA_ENST00000485353.1_5'UTR NM_001083953.1|NM_001271643.1 NP_001077422.1|NP_001258572.1 Q6YHU6 THADA_HUMAN thyroid adenoma associated 1362 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) CCATTTCACGGGAGTGGTAGA 0.453000 64 238 0 0 0.014410 0 0 CSTF3 1479 broad.mit.edu 37 11 33163455 33163455 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:33163455C>T ENST00000323959.4 - 2 244 c.105G>A c.(103-105)tgG>tgA p.W35* CSTF3_ENST00000438862.2_Nonsense_Mutation_p.W35*|CSTF3_ENST00000431742.2_Nonsense_Mutation_p.W35*|CSTF3_ENST00000526480.1_5'UTR|CSTF3_ENST00000524827.1_Nonsense_Mutation_p.W67* NM_001326.2 NP_001317.1 Q12996 CSTF3_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa 35 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1) 19 TGAGAATGCTCCAAGCATCAA 0.403000 10 71 0 0 0.001855 0 0 PRRC2B 84726 broad.mit.edu 37 9 134342990 134342990 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:134342990C>T ENST00000357304.4 + 12 1816 c.1761C>T c.(1759-1761)ttC>ttT p.F587F PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Silent_p.F587F|PRRC2B_ENST00000458550.1_Silent_p.F587F NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 587 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 CCACCACATTCCCAGAAGAGG 0.562000 7 4 0 0 0.003080 0 0 ZNF90 7643 broad.mit.edu 37 19 20215171 20215171 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:20215171C>T ENST00000418063.2 + 2 239 c.127C>T c.(127-129)Ctt>Ttt p.L43F ZNF90_ENST00000474284.1_Intron NM_007138.1 NP_009069.1 Q03938 ZNF90_HUMAN zinc finger protein 90 43 KRAB. Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|lung(2)|ovary(1)|skin(1) 5 CCTGGTCTTCCTTGGTGAGGA 0.373000 12 47 0 0 0.001855 0 0 SH3GLB1 51100 broad.mit.edu 37 1 87190087 87190087 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:87190087C>T ENST00000370558.4 + 5 893 c.570_splice c.e5+1 p.S190_splice SH3GLB1_ENST00000535010.1_Splice_Site_p.S90_splice|SH3GLB1_ENST00000482504.1_Splice_Site_p.S190_splice NM_001206651.1|NM_001206653.1|NM_016009.4 NP_001193580.1|NP_001193582.1|NP_057093.1 Q9Y371 SHLB1_HUMAN SH3-domain GRB2-like endophilin B1 190 BAR. anti-apoptosis|filopodium assembly|signal transduction Golgi membrane|mitochondrial outer membrane cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1) 11 Lung NSC(277;0.209) all cancers(265;0.0136)|Epithelial(280;0.0414) ACTAGAAATTCAGTAAGTAAA 0.264000 5 13 0 0 0.001168 0 0 PDE1B 5153 broad.mit.edu 37 12 54943669 54943669 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:54943669C>T ENST00000243052.3 + 2 449 c.13C>T c.(13-15)Ccc>Tcc p.P5S NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 5 activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 GGAGCTGTCCCCCCGCAGTCC 0.622000 16 20 0 0 0.006122 0 0 KCNC3 3748 broad.mit.edu 37 19 50826917 50826917 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:50826917G>A ENST00000376959.2 - 2 1456 c.1293C>T c.(1291-1293)ttC>ttT p.F431F KCNC3_ENST00000477616.1_Silent_p.F431F|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron Q14003 KCNC3_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 3 431 cell death voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1) 13 all_neural(266;0.057)|Ovarian(192;0.208) OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181) GCAGCCCCACGAAGTGCCGGG 0.657000 10 19 0 0 0.010729 0 0 IP6K3 117283 broad.mit.edu 37 6 33703100 33703100 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:33703100C>T ENST00000451316.1 - 3 689 c.154G>A c.(154-156)Gaa>Aaa p.E52K IP6K3_ENST00000293756.4_Missense_Mutation_p.E52K NM_001142883.1 NP_001136355.1 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 52 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity skin(1) 1 GGCAGGGATTCATAGAACCTC 0.632000 8 20 0 0 0.004482 0 0 TTN 7273 broad.mit.edu 37 2 179579181 179579181 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179579181C>T ENST00000589042.1 - 91 26544 c.26320G>A c.(26320-26322)Gga>Aga p.G8774R TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7530R|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G8457R NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8457 Ig-like 70. 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) ACGATTTCTCCCTTATCTTTG 0.408000 4 23 0 0 0.009096 0 0 ZNF645 158506 broad.mit.edu 37 X 22292062 22292062 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:22292062G>A ENST00000323684.1 + 1 998 c.954G>A c.(952-954)acG>acA p.T318T NM_152577.3 NP_689790.1 Q8N7E2 ZN645_HUMAN zinc finger protein 645 318 Pro-rich. intracellular zinc ion binding cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 27 CTCTAACCACGACCTACGATC 0.458000 37 10 0 0 0.006230 0 0 OR52N4 390072 broad.mit.edu 37 11 5776644 5776644 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:5776644G>A ENST00000317254.3 + 1 722 c.674G>A c.(673-675)cGg>cAg p.R225Q TRIM5_ENST00000380027.1_Intron NM_001005175.2 NP_001005175.3 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene) 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) ATGATTCTCCGGGCAGTGGTC 0.493000 20 60 0 0 0.012319 0 0 ADAM22 53616 broad.mit.edu 37 7 87792331 87792331 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:87792331G>A ENST00000398204.4 + 23 2235 c.1912G>A c.(1912-1914)Ggg>Agg p.G638R ADAM22_ENST00000398201.4_Missense_Mutation_p.G638R|ADAM22_ENST00000315984.7_Missense_Mutation_p.G638R|ADAM22_ENST00000398209.3_Missense_Mutation_p.G638R|ADAM22_ENST00000265727.7_Missense_Mutation_p.G638R NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 638 Cys-rich. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) TTTTAGTGGTGGGCATGTTAA 0.378000 16 71 0 0 0.004990 0 0 IGKV1D-16 28901 broad.mit.edu 37 2 90139140 90139140 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:90139140C>T ENST00000492446.1 + 0 63 TCCTGGGGCTCCTGCTGCTCT 0.512000 26 134 0 0 0.012213 0 0 SORL1 6653 broad.mit.edu 37 11 121437754 121437754 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:121437754C>T ENST00000260197.7 + 22 3284 c.3155C>T c.(3154-3156)cCa>cTa p.P1052L SORL1_ENST00000525532.1_5'UTR NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1052 EGF-like. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) AGTGTGCTTCCATCAGGGGAC 0.532000 6 23 0 0 0.001984 0 0 SGSM1 129049 broad.mit.edu 37 22 25294145 25294145 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:25294145G>A ENST00000400358.4 + 19 2286 c.2229G>A c.(2227-2229)cgG>cgA p.R743R SGSM1_ENST00000400359.4_Silent_p.R798R NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 798 Rab-GAP TBC. Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 ACGCCCAGCGGAACACCCCCA 0.627000 9 46 0 0 0.010729 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55360232 55360232 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:55360232G>A ENST00000398661.2 - 8 1001 c.870C>T c.(868-870)atC>atT p.I290I HMGCLL1_ENST00000370850.2_Silent_p.I157I|HMGCLL1_ENST00000308161.4_Silent_p.I228I|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Silent_p.I260I NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 290 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) GGGCCGTAAGGATATTTGCTA 0.388000 10 30 0 0 0.010729 0 0 DCLK3 85443 broad.mit.edu 37 3 36779376 36779376 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:36779376C>T ENST00000416516.2 - 2 1265 c.775G>A c.(775-777)Gag>Aag p.E259K NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 259 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 TTCTTCACCTCCCTCAGCCCC 0.602000 43 91 0 0 0.008740 0 0 SPTA1 6708 broad.mit.edu 37 1 158618341 158618341 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:158618341C>T ENST00000368148.3 - 26 3852 c.3672G>A c.(3670-3672)cgG>cgA p.R1224R SPTA1_ENST00000368147.3_Silent_p.R1224R NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1224 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AGCCCTCATGCCGTCGCTGAA 0.502000 29 62 0 0 0.010818 0 0 ST8SIA4 7903 broad.mit.edu 37 5 100222183 100222183 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:100222183C>T ENST00000231461.5 - 3 677 c.367G>A c.(367-369)Gat>Aat p.D123N ST8SIA4_ENST00000451528.2_Missense_Mutation_p.D123N|ST8SIA4_ENST00000507360.2_5'UTR NM_005668.4 NP_005659.1 Q92187 SIA8D_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 123 axon guidance|N-glycan processing integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1) 25 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) CTATGTAGATCATGAGAAATG 0.443000 19 54 0 0 0.012319 0 0 LST3 0 broad.mit.edu 37 12 21242995 21242995 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:21242995C>T ENST00000540229.1 + 16 2267 c.2202C>T c.(2200-2202)ttC>ttT p.F734F LST3_ENST00000381541.3_Silent_p.F673F|RP11-125O5.2_ENST00000590779.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.F673F|SLCO1B3_ENST00000553473.1_Silent_p.F734F|SLCO1B7_ENST00000421593.2_Silent_p.F626F ACTTAGAATTCTTAAACGACA 0.308000 12 9 0 0 0.010729 0 0 GSTA2 2939 broad.mit.edu 37 6 52619770 52619770 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:52619770G>A ENST00000493422.1 - 4 398 c.243C>T c.(241-243)ctC>ctT p.L81L NM_000846.4 NP_000837.3 P09210 GSTA2_HUMAN glutathione S-transferase alpha 2 81 GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(77;0.118) Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163) CTTTCCCATAGAGGTTGTATT 0.443000 27 171 0 0 0.004656 0 0 BAI3 577 broad.mit.edu 37 6 70064192 70064192 + Missense_Mutation SNP C C T rs142863825 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:70064192C>T ENST00000370598.1 + 27 4348 c.3527C>T c.(3526-3528)tCg>tTg p.S1176L BAI3_ENST00000546190.1_Missense_Mutation_p.S140L|BAI3_ENST00000238918.8_Missense_Mutation_p.S382L NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1176 Poly-Ser. 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) TCTTCGAGTTCGTTTCCTAAT 0.393000 23 82 0 0 0.004656 0 0 MCM6 4175 broad.mit.edu 37 2 136624252 136624252 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:136624252G>A ENST00000264156.2 - 5 722 c.662C>T c.(661-663)cCc>cTc p.P221L NM_005915.5 NP_005906.2 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 221 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|identical protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) TAAACTGCGGGGGATACTCCC 0.463000 23 47 0 0 0.007291 0 0 MICALCL 84953 broad.mit.edu 37 11 12313749 12313749 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:12313749C>T ENST00000256186.2 + 2 325 c.34C>T c.(34-36)Cct>Tct p.P12S NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 12 Ser-rich. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) tccttctcttcctcttccttc 0.473000 15 19 0 0 0.003163 0 0 C1orf173 127254 broad.mit.edu 37 1 75039122 75039122 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:75039122C>T ENST00000326665.5 - 14 2490 c.2272G>A c.(2272-2274)Gaa>Aaa p.E758K C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 758 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TGCTGGGATTCCTTGTTTGAG 0.408000 27 40 0 0 0.009535 0 0 NTRK3 4916 broad.mit.edu 37 15 88726711 88726711 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:88726711C>T ENST00000394480.1 - 5 654 c.333G>A c.(331-333)aaG>aaA p.K111K NTRK3_ENST00000542733.2_Silent_p.K13K|NTRK3_ENST00000557856.1_Silent_p.K111K|NTRK3_ENST00000540489.2_Silent_p.K111K|NTRK3_ENST00000360948.2_Silent_p.K111K|NTRK3_ENST00000355254.2_Silent_p.K111K|NTRK3_ENST00000558676.1_Silent_p.K111K|NTRK3_ENST00000317501.3_Silent_p.K111K|NTRK3_ENST00000357724.2_Silent_p.K111K NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 111 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) GTCCTGAGTTCTTGATGGTCC 0.552000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 26 68 0 0 0.005443 0 0 SCTR 6344 broad.mit.edu 37 2 120223413 120223413 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:120223413G>A ENST00000019103.5 - 5 722 c.455C>T c.(454-456)tCc>tTc p.S152F NM_002980.2 NP_002971.2 P47872 SCTR_HUMAN secretin receptor 152 digestion|excretion integral to plasma membrane secretin receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3) 19 Secretin(DB00021) GACCAGGGAGGAGCTGTAGCC 0.612000 17 50 0 0 0.012319 0 0 DDX60 55601 broad.mit.edu 37 4 169138161 169138161 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:169138161C>T ENST00000393743.3 - 38 5353 c.5062G>A c.(5062-5064)Gaa>Aaa p.E1688K NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1688 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) TCTTCATTTTCACATAGCTCA 0.363000 18 21 0 0 0.010504 0 0 LRTM1 57408 broad.mit.edu 37 3 54959240 54959240 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:54959240C>T ENST00000273286.5 - 2 172 c.10G>A c.(10-12)Gaa>Aaa p.E4K CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_5'UTR|CACNA2D3_ENST00000288197.5_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 4 integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) AGGAGCAGTTCACCTACAACA 0.453000 9 23 0 0 0.010729 0 0 BST1 683 broad.mit.edu 37 4 15717380 15717380 + Missense_Mutation SNP G G A rs113632818 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:15717380G>A ENST00000382346.3 + 7 756 c.707G>A c.(706-708)cGa>cAa p.R236Q BST1_ENST00000265016.4_Missense_Mutation_p.R221Q Q10588 BST1_HUMAN bone marrow stromal cell antigen 1 221 humoral immune response|multicellular organismal development anchored to membrane|extrinsic to membrane|plasma membrane binding|NAD+ nucleosidase activity central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1) 8 AAAATTACACGAATCGAGATC 0.328000 8 15 0 0 0.010729 0 0 RIMS1 22999 broad.mit.edu 37 6 72967929 72967929 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:72967929C>T ENST00000264839.7 + 17 2872 c.2872C>T c.(2872-2874)Cgc>Tgc p.R958C RIMS1_ENST00000522291.1_Missense_Mutation_p.R957C|RIMS1_ENST00000425662.2_Missense_Mutation_p.R351C|RIMS1_ENST00000521978.1_Missense_Mutation_p.R958C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R958C|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000517827.1_Missense_Mutation_p.R417C|RIMS1_ENST00000401910.3_Missense_Mutation_p.R431C|RIMS1_ENST00000523963.1_Missense_Mutation_p.R432C|RIMS1_ENST00000517960.1_Missense_Mutation_p.R957C|RIMS1_ENST00000348717.5_Missense_Mutation_p.R957C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R958C|RIMS1_ENST00000520567.1_Missense_Mutation_p.R957C Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 958 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) ATCTCCTCATCGCGGCAATGA 0.448000 9 22 0 0 0.004482 0 0 IL33 90865 broad.mit.edu 37 9 6252872 6252872 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:6252872C>T ENST00000381434.3 + 4 363 c.350C>T c.(349-351)tCa>tTa p.S117L IL33_ENST00000456383.2_Intron|IL33_ENST00000417746.2_Intron NM_033439.3 NP_254274.1 O95760 IL33_HUMAN interleukin 33 117 positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter extracellular space cytokine activity breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1) 16 Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167) GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105) ACAGGAATTTCACCTATTACA 0.318000 14 47 0 0 0.007413 0 0 ATP2A1 487 broad.mit.edu 37 16 28914725 28914725 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:28914725G>A ENST00000395503.4 + 21 3128 c.2944G>A c.(2944-2946)Gaa>Aaa p.E982K ATP2A1_ENST00000357084.3_Missense_Mutation_p.E982K|ATP2A1_ENST00000536376.1_Missense_Mutation_p.E857K NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 982 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 TGGGCTCGACGAAATCCTCAA 0.612000 14 53 0 0 0.004007 0 0 OR4D10 390197 broad.mit.edu 37 11 59244992 59244992 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:59244992C>T ENST00000530162.1 + 1 147 c.90C>T c.(88-90)ttC>ttT p.F30F NM_001004705.1 NP_001004705.1 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, member 10 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TATTTCTTTTCCTACTCTTGG 0.438000 22 89 0 0 0.014323 0 0 PCDHA11 56138 broad.mit.edu 37 5 140248801 140248801 + Missense_Mutation SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140248801A>C ENST00000398640.2 + 1 113 c.113A>C c.(112-114)gAg>gCg p.E38A PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_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) GTCTCGGAGGAGGCCAAACAC 0.652000 7 60 0 0 0.003080 0 0 CUBN 8029 broad.mit.edu 37 10 17061853 17061853 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:17061853G>A ENST00000377833.4 - 28 4212 c.4147C>T c.(4147-4149)Cag>Tag p.Q1383* NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1383 CUB 8. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CACTGCATCTGAAATCCTTTC 0.473000 8 23 0 0 0.006214 0 0 GPC5 2262 broad.mit.edu 37 13 93518546 93518546 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:93518546G>A ENST00000377067.3 + 8 1945 c.1573G>A c.(1573-1575)Gat>Aat p.D525N NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 525 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) GATGCCAGATGATATGAACTT 0.433000 14 20 0 0 0.004007 0 0 NCOA6 23054 broad.mit.edu 37 20 33330866 33330866 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:33330866G>A ENST00000374796.2 - 12 5764 c.3194C>T c.(3193-3195)tCc>tTc p.S1065F NCOA6_ENST00000359003.2_Missense_Mutation_p.S1065F Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1065 NCOA1-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CATTCTCTGGGAGTCGGGGTT 0.527000 44 109 0 0 0.014410 0 0 CNGA3 1261 broad.mit.edu 37 2 98996810 98996810 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:98996810G>A ENST00000393504.1 + 4 805 c.388G>A c.(388-390)Ggg>Agg p.G130R CNGA3_ENST00000272602.2_Missense_Mutation_p.G130R|CNGA3_ENST00000436404.2_Missense_Mutation_p.G130R|CNGA3_ENST00000409937.1_Missense_Mutation_p.G134R NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 130 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 AGCAGACAGAGGGAGAAGGTA 0.572000 7 9 0 0 0.006214 0 0 EDDM3A 10876 broad.mit.edu 37 14 21215935 21215935 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:21215935C>T ENST00000326842.2 + 2 323 c.196C>T c.(196-198)Cat>Tat p.H66Y NM_006683.4 NP_006674.2 Q14507 EP3A_HUMAN epididymal protein 3A 66 sperm displacement extracellular space breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 6 CAAGAGCTTTCATATGTTCAT 0.403000 7 25 0 0 0.001984 0 0 SLC25A53 401612 broad.mit.edu 37 X 103349360 103349360 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:103349360G>A ENST00000357421.4 - 2 761 c.581C>T c.(580-582)tCt>tTt p.S194F NM_001012755.3 NP_001012773.2 Q5H9E4 MCAR6_HUMAN solute carrier family 25, member 53 194 transport integral to membrane|mitochondrial inner membrane GTCCTTGAAAGAAAAATATAG 0.552000 39 12 0 0 0.005524 0 0 NOS1 4842 broad.mit.edu 37 12 117665424 117665424 + Nonsense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:117665424C>T ENST00000317775.6 - 23 4113 c.3428G>A c.(3427-3429)tGg>tAg p.W1143* NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Nonsense_Mutation_p.W1177* NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1143 FAD-binding FR-type. 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) GCCCCATTTCCATTCCTCGTA 0.592000 29 24 0 0 0.010818 0 0 RBMXL2 27288 broad.mit.edu 37 11 7110574 7110574 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:7110574G>A ENST00000306904.5 + 1 410 c.223G>A c.(223-225)Gat>Aat p.D75N NM_014469.4 NP_055284.3 O75526 HNRGT_HUMAN RNA binding motif protein, X-linked-like 2 75 RRM. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CAAGTCCCTGGATGGTAAGGC 0.672000 5 7 0 0 0.000602 0 0 ZNF214 7761 broad.mit.edu 37 11 7022616 7022616 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:7022616G>A ENST00000278314.4 - 3 613 c.298C>T c.(298-300)Cgt>Tgt p.R100C ZNF214_ENST00000536068.1_Missense_Mutation_p.R100C NM_013249.2 NP_037381.2 Q9UL59 ZN214_HUMAN zinc finger protein 214 100 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) CACTGGGAACGATCTTGCTGT 0.453000 144 252 0 0 0.014410 0 0 SEMA5A 9037 broad.mit.edu 37 5 9063102 9063102 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:9063102C>T ENST00000382496.5 - 18 3080 c.2415G>A c.(2413-2415)cgG>cgA p.R805R NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 805 TSP type-1 5. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 GCTTCCGGTTCCGAATGCCCC 0.592000 13 39 0 0 0.002450 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147964131 147964131 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:147964131C>T ENST00000361727.3 + 21 3904 c.3388C>T c.(3388-3390)Cat>Tat p.H1130Y CNTNAP2_ENST00000538075.1_Missense_Mutation_p.H189Y NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1130 Laminin G-like 4. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GCAGCTCGATCATTATCCTTC 0.458000 HNSCC(39;0.1) 13 94 0 0 0.002450 0 0 MAP3K6 9064 broad.mit.edu 37 1 27689240 27689240 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:27689240G>A ENST00000374040.3 - 7 1383 c.1123C>T c.(1123-1125)Cgc>Tgc p.R375C MAP3K6_ENST00000493901.1_Missense_Mutation_p.R383C|MAP3K6_ENST00000357582.2_Missense_Mutation_p.R383C O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 6 383 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|central_nervous_system(2)|lung(3)|ovary(1) 10 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) AAAGCCTTGCGATACCTGGGG 0.592000 9 24 0 0 0.006214 0 0 ADAM28 10863 broad.mit.edu 37 8 24181412 24181412 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:24181412G>A ENST00000265769.4 + 9 896 c.786G>A c.(784-786)aaG>aaA p.K262K RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Silent_p.K9K|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Silent_p.K262K|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000540823.1_Silent_p.K29K|RP11-624C23.1_ENST00000519689.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 262 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) ACAAGGATAAGATAAAGATAA 0.368000 12 29 0 0 0.013537 0 0 F13A1 2162 broad.mit.edu 37 6 6196109 6196109 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:6196109C>T ENST00000264870.3 - 10 1491 c.1226G>A c.(1225-1227)cGg>cAg p.R409Q NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 409 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) GGGGCCACACCGATACATGCC 0.512000 12 35 0 0 0.002450 0 0 SLC28A2 9153 broad.mit.edu 37 15 45556877 45556877 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:45556877G>A ENST00000347644.3 + 7 678 c.613G>A c.(613-615)Ggc>Agc p.G205S CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA NM_004212.3 NP_004203.2 O43868 S28A2_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 2 205 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) AGTGTTTTCGGGCCTAGGTCT 0.418000 21 48 0 0 0.002780 0 0 MUC4 4585 broad.mit.edu 37 3 195518055 195518055 + Missense_Mutation SNP C C T rs147332471 by1000genomes TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:195518055C>T ENST00000463781.3 - 2 855 c.396G>A c.(394-396)atG>atA p.M132I MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.M132I|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 137 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TTGATGTCATCATGAGTGTGT 0.443000 8 39 0 0 0.003080 0 0 FBXW10 10517 broad.mit.edu 37 17 18673314 18673314 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:18673314A>T ENST00000308799.4 + 10 2228 c.2009A>T c.(2008-2010)aAt>aTt p.N670I FBXW10_ENST00000395665.4_Missense_Mutation_p.N641I|FBXW10_ENST00000395667.1_Missense_Mutation_p.N641I|FBXW10_ENST00000301938.4_Intron|FBXW10_ENST00000573605.1_3'UTR Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 641 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 CGAATTTACAATTTCCTCAAC 0.527000 70 72 0 0 0.014410 0 0 SLAMF8 56833 broad.mit.edu 37 1 159802870 159802870 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:159802870G>A ENST00000289707.5 + 3 721 c.572G>A c.(571-573)gGa>gAa p.G191E SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Missense_Mutation_p.G82E NM_020125.2 NP_064510.1 Q9P0V8 SLAF8_HUMAN SLAM family member 8 191 Ig-like C2-type. integral to membrane endometrium(2)|large_intestine(4)|lung(6) 12 all_hematologic(112;0.0597) ATTTCCCTGGGACCAGGAGAC 0.547000 19 40 0 0 0.007413 0 0 LPHN2 23266 broad.mit.edu 37 1 82434986 82434986 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:82434986G>A ENST00000370728.1 + 17 3281 c.2636G>A c.(2635-2637)cGa>cAa p.R879Q LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.R866Q|LPHN2_ENST00000359929.3_Missense_Mutation_p.R866Q|LPHN2_ENST00000370725.1_Missense_Mutation_p.R879Q|LPHN2_ENST00000370721.1_Missense_Mutation_p.R804Q|LPHN2_ENST00000319517.6_Missense_Mutation_p.R866Q|LPHN2_ENST00000370730.1_Missense_Mutation_p.R879Q|LPHN2_ENST00000370713.1_Missense_Mutation_p.R866Q|LPHN2_ENST00000335786.5_Missense_Mutation_p.R879Q|LPHN2_ENST00000370715.1_Missense_Mutation_p.R866Q|LPHN2_ENST00000370717.2_Missense_Mutation_p.R879Q|LPHN2_ENST00000370723.1_Missense_Mutation_p.R866Q|LPHN2_ENST00000271029.4_Missense_Mutation_p.R879Q|LPHN2_ENST00000370727.1_Missense_Mutation_p.R879Q O95490 LPHN2_HUMAN latrophilin 2 879 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding p.R866Q(1)|p.R879Q(1) NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CAGAGTGACCGAAATACTATT 0.408000 43 111 0 0 0.011902 0 0 OR10S1 219873 broad.mit.edu 37 11 123848225 123848225 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:123848225G>A ENST00000531945.1 - 1 263 c.174C>T c.(172-174)atC>atT p.I58I NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 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;0.0399) CAGTTAGGAGGATGAGGAGAT 0.527000 3 11 0 0 0.004672 0 0 OR4C15 81309 broad.mit.edu 37 11 55322605 55322605 + Silent SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:55322605T>C ENST00000314644.2 + 1 823 c.823T>C c.(823-825)Ttg>Ctg p.L275L NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TGCTGTCATCTTGCTCTCTCT 0.463000 HNSCC(20;0.049) 30 91 0 0 0.010818 0 0 DECR2 26063 broad.mit.edu 37 16 461008 461008 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:461008C>T ENST00000219481.5 + 7 731 c.593C>T c.(592-594)cCc>cTc p.P198L DECR2_ENST00000461947.1_3'UTR|DECR2_ENST00000424398.2_Missense_Mutation_p.P186L NM_020664.3 NP_065715.1 Q9NUI1 DECR2_HUMAN 2,4-dienoyl CoA reductase 2, peroxisomal 198 peroxisome 2,4-dienoyl-CoA reductase (NADPH) activity|binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4) 9 Hepatocellular(16;0.00015) GAGTGGGGTCCCCAAAACATC 0.652000 3 7 0 0 0.009096 0 0 TIMD4 91937 broad.mit.edu 37 5 156378590 156378590 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:156378590G>A ENST00000274532.2 - 3 668 c.612C>T c.(610-612)acC>acT p.T204T TIMD4_ENST00000407087.3_Silent_p.T204T NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 204 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCTCCGGAAGGGTGCTTGGGG 0.537000 69 248 0 0 0.014410 0 0 CNNM2 54805 broad.mit.edu 37 10 104679674 104679674 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:104679674C>T ENST00000369878.3 + 1 1561 c.1437C>T c.(1435-1437)acC>acT p.T479T CNNM2_ENST00000433628.2_Silent_p.T479T|CNNM2_ENST00000457502.2_Silent_p.T237T|CNNM2_ENST00000369875.3_Silent_p.T479T NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin M2 479 CBS 1. ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) GCGGCTACACCCGCATTCCAG 0.552000 10 27 0 0 0.008291 0 0 IGLL1 3543 broad.mit.edu 37 22 23915751 23915751 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:23915751G>A ENST00000330377.2 - 3 461 c.344C>T c.(343-345)tCg>tTg p.S115L IGLL1_ENST00000249053.3_Silent_p.L76L NM_020070.3 NP_064455.1 P15814 IGLL1_HUMAN immunoglobulin lambda-like polypeptide 1 115 C region (By similarity to lambda light- chain).|Ig-like C1-type. immune response extracellular region|membrane kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1) 12 CAGAGTGACCGAGGGGGTGGC 0.577000 8 34 0 0 0.003080 0 0 LRIT3 345193 broad.mit.edu 37 4 110791074 110791074 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:110791074C>T ENST00000327908.3 + 4 1384 c.620C>T c.(619-621)tCc>tTc p.S207F LRIT3_ENST00000409621.2_Missense_Mutation_p.S207F|LRIT3_ENST00000379920.3_Missense_Mutation_p.S345F|LRIT3_ENST00000594814.1_Missense_Mutation_p.S390F Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 345 LRRCT. integral to membrane cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(123;0.0011) TGGtcctcttccttctccccc 0.463000 18 58 0 0 0.006122 0 0 LHX6 26468 broad.mit.edu 37 9 124979471 124979471 + Silent SNP G G A rs116345380 by1000genomes TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:124979471G>A ENST00000394319.4 - 5 662 c.558C>T c.(556-558)ttC>ttT p.F186F LHX6_ENST00000373755.2_Silent_p.F157F|LHX6_ENST00000541397.2_Silent_p.F175F|LHX6_ENST00000373754.2_Silent_p.F157F|LHX6_ENST00000559895.1_5'UTR|LHX6_ENST00000340587.3_Silent_p.F186F NM_014368.4 NP_055183.2 Q9UPM6 LHX6_HUMAN LIM homeobox 6 157 Required for interaction with LBD1 (By similarity). cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(5) 8 AGAAGCAGGCGAAGCAGGCCA 0.642000 9 55 0 0 0.008291 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36278537 36278537 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:36278537C>T ENST00000007510.4 + 21 3214 c.3070C>T c.(3070-3072)Ccc>Tcc p.P1024S ARHGAP33_ENST00000378944.5_Intron|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P863S O14559 RHG33_HUMAN Rho GTPase activating protein 33 1024 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 ATGTTCTGTCCCCTCACAGGT 0.706000 18 40 0 0 0.012319 0 0 ADAM22 53616 broad.mit.edu 37 7 87792381 87792381 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:87792381G>A ENST00000398204.4 + 23 2285 c.1962G>A c.(1960-1962)ggG>ggA p.G654G ADAM22_ENST00000398201.4_Silent_p.G654G|ADAM22_ENST00000315984.7_Silent_p.G654G|ADAM22_ENST00000398209.3_Silent_p.G654G|ADAM22_ENST00000265727.7_Silent_p.G654G NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 654 Cys-rich. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) TGGAAGATGGGACACCTTGTG 0.398000 44 38 0 0 0.014410 0 0 HARBI1 283254 broad.mit.edu 37 11 46637537 46637537 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:46637537G>A ENST00000326737.3 - 2 498 c.251C>T c.(250-252)tCc>tTc p.S84F NM_173811.3 NP_776172.1 Q96MB7 HARB1_HUMAN harbinger transposase derived 1 84 cytoplasm|nucleus metal ion binding|nuclease activity large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1) 3 AGTCTGGAAGGAACCTGAGGT 0.522000 39 56 0 0 0.005524 0 0 RPL10L 140801 broad.mit.edu 37 14 47120333 47120333 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:47120333G>A ENST00000298283.3 - 1 695 c.607C>T c.(607-609)Cat>Tat p.H203Y NM_080746.2 NP_542784.1 Q96L21 RL10L_HUMAN ribosomal protein L10-like 203 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 AAGGGGCCATGACTGGGAACG 0.493000 9 43 0 0 0.008291 0 0 TRPM6 140803 broad.mit.edu 37 9 77425749 77425749 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:77425749G>A ENST00000451710.3 - 13 1716 c.1479C>T c.(1477-1479)ctC>ctT p.L493L TRPM6_ENST00000376871.3_Silent_p.L493L|TRPM6_ENST00000376864.4_Silent_p.L493L|TRPM6_ENST00000449912.2_Silent_p.L488L|TRPM6_ENST00000360774.1_Silent_p.L493L|TRPM6_ENST00000361255.3_Silent_p.L488L|TRPM6_ENST00000376872.3_Silent_p.L493L Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 493 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 CATCTTGGACGAGATGATGCA 0.378000 18 30 0 0 0.008871 0 0 TRIM8 81603 broad.mit.edu 37 10 104416605 104416605 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:104416605C>T ENST00000302424.6 + 6 1272 c.1150C>T c.(1150-1152)Cca>Tca p.P384S TRIM8_ENST00000487927.1_3'UTR NM_030912.2 NP_112174.2 Q9BZR9 TRIM8_HUMAN tripartite motif containing 8 384 cytoplasm|PML body ligase activity|protein homodimerization activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) AACGGCCTTCCCAGAGGCCAG 0.697000 26 91 0 0 0.007291 0 0 TRANK1 9881 broad.mit.edu 37 3 36873841 36873841 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:36873841C>T ENST00000429976.2 - 21 7348 c.7101G>A c.(7099-7101)gaG>gaA p.E2367E TRANK1_ENST00000428977.2_Silent_p.E1817E|TRANK1_ENST00000301807.6_Silent_p.E1817E O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2367 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 CAATGCAATTCTCCAGAAGCC 0.453000 33 61 0 0 0.003755 0 0 MYH2 4620 broad.mit.edu 37 17 10432367 10432367 + Silent SNP G G A rs139130605 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:10432367G>A ENST00000245503.5 - 27 3768 c.3384C>T c.(3382-3384)atC>atT p.I1128I CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.I1128I|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1128 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GCTCTGCCTCGATTTCCTCCT 0.582000 22 11 0 0 0.003330 0 0 TCL1A 8115 broad.mit.edu 37 14 96180377 96180377 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:96180377C>T ENST00000402399.1 - 1 156 c.27G>A c.(25-27)gaG>gaA p.E9E RP11-164H13.1_ENST00000553445.1_RNA|RP11-164H13.1_ENST00000547644.2_RNA|TCL1A_ENST00000554012.1_Silent_p.E9E|TCL1A_ENST00000556450.1_Silent_p.E9E|TCL1A_ENST00000555202.1_Silent_p.E9E NM_021966.2 NP_068801.1 P56279 TCL1A_HUMAN T-cell leukemia/lymphoma 1A 9 multicellular organismal development endoplasmic reticulum|microsome haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) CGGTGACTGCCTCCCCGAGTG 0.657000 T TRA@ T-CLL 31 35 0 0 0.012213 0 0 C9orf84 158401 broad.mit.edu 37 9 114538131 114538131 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:114538131C>T ENST00000374287.3 - 5 450 c.190G>A c.(190-192)Gaa>Aaa p.E64K C9orf84_ENST00000318737.4_Missense_Mutation_p.E64K|C9orf84_ENST00000374283.5_Missense_Mutation_p.E128K Q5VXU9 CI084_HUMAN chromosome 9 open reading frame 84 64 breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 GTAAAGACTTCATTGTAGTCC 0.353000 13 45 0 0 0.004007 0 0 BEST4 266675 broad.mit.edu 37 1 45251749 45251749 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:45251749C>T ENST00000372207.3 - 4 632 c.633G>A c.(631-633)ttG>ttA p.L211L NM_153274.2 NP_695006.1 Q8NFU0 BEST4_HUMAN bestrophin 4 211 chloride channel complex|plasma membrane chloride channel activity large_intestine(1)|lung(4)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) CACTCACTTCCAAAAGTAGAC 0.507000 OREG0013447 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 77 0 0 0.004878 0 0 PCDHA11 56138 broad.mit.edu 37 5 140248800 140248800 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140248800G>A ENST00000398640.2 + 1 112 c.112G>A c.(112-114)Gag>Aag p.E38K PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_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) CGTCTCGGAGGAGGCCAAACA 0.652000 7 58 0 0 0.003080 0 0 SLC22A10 387775 broad.mit.edu 37 11 63078499 63078499 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:63078499A>T ENST00000332793.6 + 10 1621 c.1619A>T c.(1618-1620)aAg>aTg p.K540M SLC22A10_ENST00000544661.1_3'UTR|SLC22A10_ENST00000526800.1_Missense_Mutation_p.K204M|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron NM_001039752.3 NP_001034841.3 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 540 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CTCAAGGAAAAGGCATAAAAA 0.284000 13 56 0 0 0.002450 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72202035 72202035 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:72202035C>T ENST00000555818.1 + 20 5461 c.5113C>T c.(5113-5115)Cgc>Tgc p.R1705C SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1684C|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R1159C|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1684C NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1705 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) TGAAAACCATCGCCCCTTGAG 0.507000 25 106 0 0 0.010818 0 0 EPSTI1 94240 broad.mit.edu 37 13 43566154 43566154 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:43566154C>T ENST00000313640.7 - 1 212 c.148G>A c.(148-150)Ggc>Agc p.G50S EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000398762.3_Missense_Mutation_p.G50S|EPSTI1_ENST00000313624.7_Missense_Mutation_p.G50S NM_001002264.2 NP_001002264.1 Q96J88 ESIP1_HUMAN epithelial stromal interaction 1 (breast) 50 endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1) 17 Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858) CGCGAAGGGCCCTTAGGGGCT 0.672000 13 75 0 0 0.006122 0 0 PDXDC2P 283970 broad.mit.edu 37 16 70016326 70016326 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:70016326G>A ENST00000325845.7 - 23 2445 c.376C>T c.(376-378)Cgt>Tgt p.R126C RP11-419C5.2_ENST00000532298.1_Missense_Mutation_p.R158C|PDXDC2P_ENST00000531894.1_RNA|RP11-419C5.2_ENST00000525562.1_5'UTR p.R158C(2)|p.R126C(1) breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1) 13 TTCATCTTACGGATTTTAGCT 0.383000 9 33 0 0 0.004482 0 0 TGM7 116179 broad.mit.edu 37 15 43574084 43574084 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:43574084C>T ENST00000452443.2 - 9 1313 c.1309G>A c.(1309-1311)Gac>Aac p.D437N NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 437 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) TGGCGCTGGTCTGACCCCACC 0.552000 10 13 0 0 0.006214 0 0 RGS7BP 401190 broad.mit.edu 37 5 63802466 63802466 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:63802466G>A ENST00000334025.2 + 1 341 c.15G>A c.(13-15)ccG>ccA p.P5P RGS7BP_ENST00000508162.1_3'UTR 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 5 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) GTTCTGCACCGAATGGGCGCA 0.692000 7 17 0 0 0.003080 0 0 NR5A2 2494 broad.mit.edu 37 1 200017821 200017821 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:200017821G>A ENST00000367362.3 + 5 1231 c.985G>A c.(985-987)Gag>Aag p.E329K NR5A2_ENST00000236914.3_Missense_Mutation_p.E283K|NR5A2_ENST00000544748.1_Missense_Mutation_p.E257K NM_001276464.1|NM_205860.1 NP_001263393.1|NP_995582.1 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 329 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) TTTGCAGCAAGAGCAGGCTAA 0.498000 23 60 0 0 0.003330 0 0 SNIP1 79753 broad.mit.edu 37 1 38005955 38005955 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:38005955G>A ENST00000296215.6 - 3 801 c.729C>T c.(727-729)gtC>gtT p.V243V NM_024700.3 NP_078976.2 Q8TAD8 SNIP1_HUMAN Smad nuclear interacting protein 1 243 production of miRNAs involved in gene silencing by miRNA nucleus protein binding breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 25 Myeloproliferative disorder(586;0.0393) TATATTTAATGACTACACCCC 0.453000 21 47 0 0 0.014323 0 0 GRID1 2894 broad.mit.edu 37 10 87484213 87484213 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:87484213C>T ENST00000327946.7 - 11 1839 c.1754G>A c.(1753-1755)aGg>aAg p.R585K GRID1_ENST00000536331.1_Missense_Mutation_p.R156K NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 585 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) AGCCTGTATCCTGTTCAACAC 0.547000 Multiple Myeloma(13;0.14) 14 13 0 0 0.002450 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76389361 76389361 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:76389361G>A ENST00000307431.8 + 4 725 c.340G>A c.(340-342)Gat>Aat p.D114N CNTNAP4_ENST00000476707.1_Missense_Mutation_p.D118N|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.D114N|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.D90N NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 115 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GATGTTCAGTGATAGTGGCTG 0.483000 17 68 0 0 0.008871 0 0 BRINP1 1620 broad.mit.edu 37 9 121971207 121971207 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:121971207G>A ENST00000265922.3 - 7 1396 c.935C>T c.(934-936)tCa>tTa p.S312L NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 312 cell cycle arrest|cell death cytoplasm protein binding p.S312L(1) 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 CTTCATAAATGATTTAAACTC 0.493000 8 31 0 0 0.004482 0 0 SLC44A5 204962 broad.mit.edu 37 1 75708618 75708618 + Missense_Mutation SNP A A C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:75708618A>C ENST00000370855.5 - 8 537 c.424T>G c.(424-426)Tgg>Ggg p.W142G SLC44A5_ENST00000535611.1_Missense_Mutation_p.W12G|SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000370859.3_Missense_Mutation_p.W142G NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 142 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 TAGTCTTCCCAGTAGCTTTTG 0.373000 10 104 0 0 0.010729 0 0 CACNA1G 8913 broad.mit.edu 37 17 48678466 48678466 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:48678466C>T ENST00000352832.5 + 18 4149 c.3777C>T c.(3775-3777)gtC>gtT p.V1259V CACNA1G_ENST00000358244.5_Silent_p.V1259V|CACNA1G_ENST00000507896.1_Silent_p.V1282V|CACNA1G_ENST00000354983.4_Silent_p.V1259V|CACNA1G_ENST00000502264.1_Silent_p.V1259V|CACNA1G_ENST00000515411.1_Silent_p.V1282V|CACNA1G_ENST00000507609.1_Silent_p.V1282V|CACNA1G_ENST00000360761.4_Silent_p.V1259V|CACNA1G_ENST00000513964.1_Silent_p.V1282V|CACNA1G_ENST00000416767.4_Silent_p.V1282V|CACNA1G_ENST00000514717.1_Silent_p.V1259V|CACNA1G_ENST00000503485.1_Silent_p.V1282V|CACNA1G_ENST00000510366.1_Silent_p.V1282V|CACNA1G_ENST00000514181.1_Silent_p.V1282V|CACNA1G_ENST00000507336.1_Silent_p.V1282V|CACNA1G_ENST00000515165.1_Silent_p.V1282V|CACNA1G_ENST00000429973.2_Silent_p.V1282V|CACNA1G_ENST00000514079.1_Silent_p.V1282V|CACNA1G_ENST00000359106.5_Silent_p.V1282V|CACNA1G_ENST00000512389.1_Silent_p.V1282V|CACNA1G_ENST00000515765.1_Silent_p.V1282V|CACNA1G_ENST00000442258.2_Silent_p.V1259V|CACNA1G_ENST00000510115.1_Silent_p.V1259V|CACNA1G_ENST00000507510.2_Silent_p.V1282V|CACNA1G_ENST00000513689.2_Silent_p.V1282V|CACNA1G_ENST00000505165.1_Silent_p.V1282V 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 1282 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) ACCACGTGGTCCTTGTCATCA 0.617000 60 21 0 0 0.014410 0 0 PTGFR 5737 broad.mit.edu 37 1 78959150 78959150 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:78959150G>A ENST00000370756.3 + 2 959 c.722G>A c.(721-723)aGa>aAa p.R241K PTGFR_ENST00000370757.3_Missense_Mutation_p.R241K|PTGFR_ENST00000370758.1_Missense_Mutation_p.R241K NM_001039585.1 NP_001034674.1 P43088 PF2R_HUMAN prostaglandin F receptor (FP) 241 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity p.R241T(4) breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) AGACAAGGCAGATCTCATCAT 0.423000 30 43 0 0 0.008361 0 0 RYR3 6263 broad.mit.edu 37 15 34032190 34032190 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:34032190C>T ENST00000389232.4 + 51 7884 c.7814C>T c.(7813-7815)aCc>aTc p.T2605I RYR3_ENST00000415757.3_Missense_Mutation_p.T2605I NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2605 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CCTATTAACACCATGAAGTGA 0.443000 8 21 0 0 0.006214 0 0 JPH2 57158 broad.mit.edu 37 20 42744384 42744384 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:42744384C>T ENST00000372980.3 - 4 2803 c.1931G>A c.(1930-1932)gGg>gAg p.G644E NM_020433.4 NP_065166.2 Q9BR39 JPH2_HUMAN junctophilin 2 644 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CTTGGTCAGCCCTCGAGCCTC 0.701000 5 35 0 0 0.001984 0 0 NEB 4703 broad.mit.edu 37 2 152410392 152410392 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:152410392C>T ENST00000397345.3 - 126 19778 c.19576G>A c.(19576-19578)Gac>Aac p.D6526N NEB_ENST00000172853.10_Missense_Mutation_p.D4825N|NEB_ENST00000603639.1_Missense_Mutation_p.D6526N|NEB_ENST00000427231.2_Missense_Mutation_p.D6526N|NEB_ENST00000604864.1_Missense_Mutation_p.D6526N|NEB_ENST00000409198.1_Missense_Mutation_p.D4825N NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 4825 Interaction with SVIL. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) ACTTGCAAGTCGGGGTGGCAA 0.547000 26 36 0 0 0.003954 0 0 PLXNA4 91584 broad.mit.edu 37 7 131925887 131925887 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:131925887C>T ENST00000359827.3 - 5 2504 c.1542G>A c.(1540-1542)caG>caA p.Q514Q PLXNA4_ENST00000321063.4_Silent_p.Q514Q Q9HCM2 PLXA4_HUMAN plexin A4 514 PSI 1. 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 CGCCGCAGCTCTGATACTGAC 0.592000 22 31 0 0 0.003330 0 0 ACTC1 70 broad.mit.edu 37 15 35085505 35085505 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:35085505G>A ENST00000290378.4 - 3 1050 c.395C>T c.(394-396)cCt>cTt p.P132L RP11-814P5.1_ENST00000503496.1_RNA NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 132 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) GTACATGGCAGGGACATTGAA 0.572000 8 56 0 0 0.008291 0 0 RNF123 63891 broad.mit.edu 37 3 49743429 49743429 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:49743429C>T ENST00000327697.6 + 25 2463 c.2319C>T c.(2317-2319)tcC>tcT p.S773S RNF123_ENST00000432042.1_Silent_p.S627S NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 773 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) TGGGTGTCTCCGATGATGTCA 0.587000 29 49 0 0 0.010818 0 0 U2AF2 11338 broad.mit.edu 37 19 56173923 56173923 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:56173923C>T ENST00000450554.2 + 6 1501 c.542C>T c.(541-543)gCc>gTc p.A181V CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000590551.1_Missense_Mutation_p.A17V|CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000308924.4_Missense_Mutation_p.A181V NM_001012478.1|NM_007279.2 NP_001012496.1|NP_009210.1 P26368 U2AF2_HUMAN U2 small nuclear RNA auxiliary factor 2 181 RRM 1. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) CTGACCCAGGCCCCTGGCAAC 0.597000 11 72 0 0 0.010729 0 0 XCR1 2829 broad.mit.edu 37 3 46063217 46063217 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:46063217G>A ENST00000309285.3 - 2 579 c.223C>T c.(223-225)Ctc>Ttc p.L75F XCR1_ENST00000542109.1_Missense_Mutation_p.L75F NM_001024644.1 NP_001019815.1 P46094 XCR1_HUMAN chemokine (C motif) receptor 1 75 chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response integral to plasma membrane chemokine receptor activity NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2) 14 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) AGGTCTGAGAGGCACAGGTTG 0.557000 17 23 0 0 0.004007 0 0 GPT2 84706 broad.mit.edu 37 16 46956280 46956280 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:46956280C>T ENST00000440783.2 + 9 1529 c.864C>T c.(862-864)gtC>gtT p.V288V GPT2_ENST00000340124.4_Silent_p.V388V NM_001142466.1 NP_001135938.1 Q8TD30 ALAT2_HUMAN glutamic pyruvate transaminase (alanine aminotransferase) 2 388 2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process mitochondrial matrix L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TGGACATTGTCGTGAACCCCC 0.627000 16 42 0 0 0.003163 0 0 UBC 7316 broad.mit.edu 37 12 125397978 125397978 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:125397978G>A ENST00000536769.1 - 1 1916 c.340C>T c.(340-342)Cct>Tct p.P114S UBC_ENST00000546120.1_Intron|UBC_ENST00000339647.5_Missense_Mutation_p.P114S|UBC_ENST00000538617.1_Missense_Mutation_p.P114S P0CG48 UBC_HUMAN ubiquitin C 114 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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 ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|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|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.G111fs*15(1) breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TGCTGGTCAGGAGGAATGCCT 0.542000 62 46 0 0 0.014410 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51647846 51647846 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:51647846C>T ENST00000317643.6 + 2 686 c.617C>T c.(616-618)cCa>cTa p.P206L SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron NM_014385.2 NP_055200.1 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 206 Ig-like C2-type 1. cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) ACCCTCATCCCACAGCCCCAG 0.652000 22 42 0 0 0.010504 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27999286 27999286 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:27999286C>T ENST00000441525.1 - 1 280 c.166G>A c.(166-168)Gat>Aat p.D56N NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 56 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 AAACCACCATCCCTGGTATCA 0.517000 6 21 0 0 0.001168 0 0 NALCN 259232 broad.mit.edu 37 13 101712206 101712206 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:101712206C>T ENST00000251127.6 - 42 4950 c.4869G>A c.(4867-4869)acG>acA p.T1623T NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1623 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) TGTTGGCATTCGTGTCCTCAC 0.542000 28 33 0 0 0.008361 0 0 MEFV 4210 broad.mit.edu 37 16 3298943 3298943 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:3298943C>T ENST00000219596.1 - 4 1361 c.1322G>A c.(1321-1323)cGa>cAa p.R441Q MEFV_ENST00000536379.1_Missense_Mutation_p.R230Q|MEFV_ENST00000541159.1_Missense_Mutation_p.R230Q|MEFV_ENST00000339854.4_Missense_Mutation_p.R261Q NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 441 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) CCCATAGGATCGCTGCTCCTC 0.517000 46 89 0 0 0.014410 0 0 WT1 7490 broad.mit.edu 37 11 32439132 32439132 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:32439132G>A ENST00000332351.3 - 4 1225 c.941C>T c.(940-942)aCc>aTc p.T314I WT1_ENST00000530998.1_Missense_Mutation_p.T102I|WT1_ENST00000379079.2_Missense_Mutation_p.T102I|WT1_ENST00000448076.3_Missense_Mutation_p.T314I NM_024424.3|NM_024426.4 NP_077742.2|NP_077744.3 P19544 WT1_HUMAN Wilms tumor 1 246 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding EWSR1/WT1(234) NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1) 533 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) CCCCTTTAAGGTGGCTCCTAA 0.373000 """D, Mis, N, F, S""" EWSR1 """Wilms, desmoplastic small round cell tumor""" Wilms Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome 14 32 0 0 0.004990 0 0 GRID2 2895 broad.mit.edu 37 4 94436461 94436461 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:94436461C>T ENST00000282020.4 + 13 2350 c.2092C>T c.(2092-2094)Cct>Tct p.P698S GRID2_ENST00000510992.1_Missense_Mutation_p.P603S NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 698 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) AGGACTGAATCCTTTTGAGAG 0.478000 15 7 0 0 0.004007 0 0 SLC25A2 83884 broad.mit.edu 37 5 140682711 140682711 + Missense_Mutation SNP G G A rs146929069 by1000genomes TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:140682711G>A ENST00000239451.4 - 1 901 c.722C>T c.(721-723)tCc>tTc p.S241F NM_031947.2 NP_114153.1 Q9BXI2 ORNT2_HUMAN solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 241 mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) CCCATACATGGAAAGAACTTG 0.413000 7 40 0 0 0.001984 0 0 DSC3 1825 broad.mit.edu 37 18 28598740 28598740 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:28598740C>T ENST00000434452.1 - 8 1123 c.969G>A c.(967-969)atG>atA p.M323I DSC3_ENST00000360428.4_Missense_Mutation_p.M323I NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 323 Cadherin 2. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) CTTGTACTTTCATTATCAATG 0.328000 15 35 0 0 0.004007 0 0 MAP1B 4131 broad.mit.edu 37 5 71411610 71411610 + Missense_Mutation SNP C C G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:71411610C>G ENST00000296755.7 + 2 568 c.270C>G c.(268-270)ttC>ttG p.F90L MAP1B_ENST00000504183.1_3'UTR NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 90 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CTGCAAGATTCTCTCCTGAAG 0.468000 14 28 0 0 0.001855 0 0 CCNJL 79616 broad.mit.edu 37 5 159686609 159686609 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:159686609G>A ENST00000393977.3 - 5 879 c.594C>T c.(592-594)ttC>ttT p.F198F CCNJL_ENST00000257536.7_Silent_p.F150F|CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000519673.1_Silent_p.F150F|CCNJL_ENST00000541762.1_Silent_p.F149F NM_024565.5 NP_078841.3 Q8IV13 CCNJL_HUMAN cyclin J-like 198 nucleus endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGTAGTCCAGGAAGTGGGCAG 0.622000 6 34 0 0 0.001984 0 0 DMPK 1760 broad.mit.edu 37 19 46280937 46280937 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:46280937G>A ENST00000600757.1 - 6 1587 c.900C>T c.(898-900)atC>atT p.I300I DMPK_ENST00000343373.4_Silent_p.I300I|DMPK_ENST00000291270.4_Silent_p.I290I|DMPK_ENST00000354227.5_Silent_p.I290I|DMPK_ENST00000447742.2_Silent_p.I290I|DMPK_ENST00000458663.2_Silent_p.I290I Q09013 DMPK_HUMAN dystrophia myotonica-protein kinase 300 Protein kinase. regulation of heart contraction ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24) TGTAGTGGACGATCTTGCCAT 0.617000 52 105 0 0 0.014410 0 0 SI 6476 broad.mit.edu 37 3 164739156 164739156 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:164739156T>C ENST00000264382.3 - 27 3177 c.3115A>G c.(3115-3117)Aag>Gag p.K1039E NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1039 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) TATCTCTTCTTTTGGGGATCA 0.328000 HNSCC(35;0.089) 44 78 0 0 0.014410 0 0 FAM90A1 55138 broad.mit.edu 37 12 8375251 8375251 + Nonsense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:8375251T>A ENST00000538603.1 - 7 1120 c.562A>T c.(562-564)Aaa>Taa p.K188* FAM90A1_ENST00000307435.6_Nonsense_Mutation_p.K188* NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 188 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) AGACTGGCTTTTCTGAGGGGA 0.587000 49 27 0 0 0.014410 0 0 PCDH11X 27328 broad.mit.edu 37 X 91090671 91090671 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:91090671C>T ENST00000373094.1 + 1 1013 c.168C>T c.(166-168)tcC>tcT p.S56S PCDH11X_ENST00000373097.1_Silent_p.S56S|PCDH11X_ENST00000298274.8_Silent_p.S56S|PCDH11X_ENST00000361655.2_Silent_p.S56S|PCDH11X_ENST00000373088.1_Silent_p.S56S|PCDH11X_ENST00000406881.1_Silent_p.S56S|PCDH11X_ENST00000361724.1_Silent_p.S56S|PCDH11X_ENST00000504220.1_Silent_p.S56S|PCDH11X_ENST00000395337.2_Silent_p.S56S NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 56 Cadherin 1. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CAAACAAGTCCTTGACAACTG 0.463000 12 27 0 0 0.010729 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60348291 60348291 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:60348291G>A ENST00000581291.1 - 0 567 breast(2)|kidney(1)|lung(2) 5 GTTCCGTATCGATCCCTGAAG 0.547000 83 59 0 0 0.014410 0 0 CNOT10 25904 broad.mit.edu 37 3 32769172 32769172 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:32769172C>T ENST00000328834.5 + 10 1341 c.1025C>T c.(1024-1026)tCa>tTa p.S342L CNOT10_ENST00000463697.1_3'UTR|CNOT10_ENST00000331889.6_Missense_Mutation_p.S342L|CNOT10_ENST00000538368.1_Missense_Mutation_p.S114L|CNOT10_ENST00000454516.2_Missense_Mutation_p.S402L NM_015442.2 NP_056257.1 Q9H9A5 CNOTA_HUMAN CCR4-NOT transcription complex, subunit 10 342 nuclear-transcribed mRNA poly(A) tail shortening cytosol protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3) 23 AAAAAATTTTCAGGAAGACCC 0.338000 11 32 0 0 0.008291 0 0 CDH23 64072 broad.mit.edu 37 10 73464754 73464754 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:73464754C>T ENST00000224721.6 + 24 2840 c.2835C>T c.(2833-2835)atC>atT p.I945I CDH23_ENST00000299366.7_Silent_p.I985I NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 940 Cadherin 9. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 ACTTCCTCATCAACAGCAGCA 0.672000 13 55 0 0 0.002450 0 0 RNF165 494470 broad.mit.edu 37 18 44030681 44030681 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:44030681C>T ENST00000269439.7 + 6 786 c.735C>T c.(733-735)ctC>ctT p.L245L RNF165_ENST00000543885.1_Silent_p.L53L NM_152470.2 NP_689683.2 Q6ZSG1 RN165_HUMAN ring finger protein 165 245 zinc ion binding NS(1)|large_intestine(4)|lung(6) 11 READ - Rectum adenocarcinoma(1;0.0873) TGCTGCAGCTCGAGGACAGGT 0.517000 14 41 0 0 0.003163 0 0 TRAV1-1 28693 broad.mit.edu 37 14 22090085 22090085 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:22090085C>T ENST00000542354.1 + 0 95 CTCTATGTTTCCATGAAGATG 0.428000 11 38 0 0 0.013537 0 0 DCHS2 54798 broad.mit.edu 37 4 155256162 155256162 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:155256162G>A ENST00000357232.3 - 8 1073 c.1074C>T c.(1072-1074)gtC>gtT p.V358V DCHS2_ENST00000339452.1_Silent_p.V857V|DCHS2_ENST00000507542.1_5'UTR NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 358 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CGGCATTAATGACAGCTGTGA 0.433000 15 10 0 0 0.002450 0 0 CLCN1 1180 broad.mit.edu 37 7 143049049 143049049 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:143049049G>A ENST00000343257.2 + 23 3045 c.2958G>A c.(2956-2958)ctG>ctA p.L986L NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 986 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) AGGATGAACTGATCCTTTGAC 0.617000 29 69 0 0 0.009535 0 0 DEPDC5 9681 broad.mit.edu 37 22 32215160 32215160 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:32215160C>T ENST00000400246.1 + 22 1961 c.1819C>T c.(1819-1821)Ccc>Tcc p.P607S DEPDC5_ENST00000382111.2_Missense_Mutation_p.P607S|DEPDC5_ENST00000266091.3_Missense_Mutation_p.P607S|DEPDC5_ENST00000536766.1_Missense_Mutation_p.P579S|DEPDC5_ENST00000382105.2_Missense_Mutation_p.P607S|DEPDC5_ENST00000535622.1_Missense_Mutation_p.P607S|DEPDC5_ENST00000400249.2_Missense_Mutation_p.P607S|DEPDC5_ENST00000382112.3_Missense_Mutation_p.P607S|DEPDC5_ENST00000400248.1_Missense_Mutation_p.P607S O75140 DEPD5_HUMAN DEP domain containing 5 607 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 CTCTCGGATGCCCATGAAGCT 0.542000 13 47 0 0 0.002450 0 0 GRIN2B 2904 broad.mit.edu 37 12 13715851 13715851 + Missense_Mutation SNP G G A rs143379788 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:13715851G>A ENST00000279593.3 - 13 4530 c.4321C>T c.(4321-4323)Cgt>Tgt p.R1441C NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1441 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTCTGGAAACGGGCTGGCACG 0.607000 32 17 0 0 0.013726 0 0 KCNJ6 3763 broad.mit.edu 37 21 39086553 39086553 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr21:39086553C>T ENST00000400482.3 - 3 1496 c.907G>A c.(907-909)Gaa>Aaa p.E303K KCNJ6_ENST00000288309.6_Missense_Mutation_p.E303K NM_002240.3 NP_002231.1 P48051 IRK6_HUMAN potassium inwardly-rectifying channel, subfamily J, member 6 303 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) ACCACAATTTCCAGTTCCTCT 0.478000 30 37 0 0 0.012213 0 0 TBX18 9096 broad.mit.edu 37 6 85446431 85446431 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:85446431G>A ENST00000369663.5 - 8 2133 c.1796C>T c.(1795-1797)tCa>tTa p.S599L TBX18_ENST00000606784.1_Intron NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 599 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) TACTTGAGATGATGACAGAGT 0.428000 21 37 0 0 0.003330 0 0 NNMT 4837 broad.mit.edu 37 11 114168875 114168875 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:114168875G>A ENST00000535401.1 + 4 621 c.357G>A c.(355-357)ggG>ggA p.G119G RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000299964.3_Silent_p.G119G|NNMT_ENST00000542647.1_Intron|NNMT_ENST00000545255.1_5'UTR P40261 NNMT_HUMAN nicotinamide N-methyltransferase 119 xenobiotic metabolic process cytosol nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128) Niacin(DB00627) ATCTTGAAGGGAACAGGTAGA 0.488000 8 35 0 0 0.003080 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73315857 73315857 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:73315857G>A ENST00000258098.6 - 3 1129 c.889C>T c.(889-891)Ccc>Tcc p.P297S RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 297 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 AACAGCTTGGGGGACTGTGCA 0.612000 10 5 0 0 0.006214 0 0 TAS1R2 80834 broad.mit.edu 37 1 19180731 19180731 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:19180731G>A ENST00000375371.3 - 3 1254 c.1233C>T c.(1231-1233)acC>acT p.T411T RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 411 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) CCACCCTCTTGGTGCAGGTGC 0.627000 10 29 0 0 0.013537 0 0 PAPLN 89932 broad.mit.edu 37 14 73735314 73735314 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:73735314G>A ENST00000427855.1 + 26 3652 c.3550G>A c.(3550-3552)Gat>Aat p.D1184N PAPLN_ENST00000555445.1_Missense_Mutation_p.D1168N|PAPLN_ENST00000381166.3_Intron|PAPLN_ENST00000554301.1_Missense_Mutation_p.D1184N|PAPLN_ENST00000340738.5_Missense_Mutation_p.D1157N O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 1184 Ig-like C2-type 3. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) CCAGTCCCCAGATGGCACGCT 0.637000 26 59 0 0 0.006320 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960521 73960521 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:73960521G>A ENST00000373468.1 - 3 4522 c.3871C>T c.(3871-3873)Cca>Tca p.P1291S KIAA2022_ENST00000055682.5_Missense_Mutation_p.P1291S Q5QGS0 K2022_HUMAN KIAA2022 1291 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 CTCCAGCCTGGGCTGCTCTCC 0.507000 35 12 0 0 0.003755 0 0 KRT32 3882 broad.mit.edu 37 17 39619137 39619137 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:39619137G>A ENST00000225899.3 - 6 1265 c.1162C>T c.(1162-1164)Cgg>Tgg p.R388W NM_002278.3 NP_002269.3 Q14532 K1H2_HUMAN keratin 32 388 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) CCCTCCAGCCGGGCCCGGACG 0.637000 45 34 0 0 0.014410 0 0 LMO7 4008 broad.mit.edu 37 13 76397934 76397934 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:76397934C>T ENST00000357063.3 + 16 4290 c.3030C>T c.(3028-3030)tcC>tcT p.S1010S LMO7_ENST00000321797.8_Silent_p.S725S|LMO7_ENST00000377534.3_Silent_p.S1010S|LMO7_ENST00000341547.4_Silent_p.S676S|LMO7_ENST00000465261.2_Silent_p.S725S|LMO7_ENST00000526202.1_Silent_p.S575S Q8WWI1 LMO7_HUMAN LIM domain 7 1010 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) CATTGTCTTCCACATCTGGTC 0.463000 13 18 0 0 0.013537 0 0 OR52I2 143502 broad.mit.edu 37 11 4608395 4608395 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:4608395G>A ENST00000312614.4 + 1 375 c.353G>A c.(352-354)gGa>gAa p.G118E NM_001005170.2 NP_001005170.1 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, member 2 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TTCTGCTCAGGAGACAGCTCA 0.512000 28 126 0 0 0.004656 0 0 UQCC1 55245 broad.mit.edu 37 20 33971916 33971916 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:33971916G>A ENST00000397554.1 - 3 160 c.150C>T c.(148-150)tcC>tcT p.S50S UQCC_ENST00000542501.1_Silent_p.S50S|UQCC_ENST00000359226.2_Silent_p.S50S|UQCC_ENST00000349714.5_Silent_p.S50S|UQCC_ENST00000374385.5_Silent_p.S50S|UQCC_ENST00000374380.2_Intron|UQCC_ENST00000374377.5_Intron|UQCC_ENST00000407996.2_Silent_p.S50S|UQCC_ENST00000540457.1_Intron|UQCC_ENST00000491125.1_5'UTR|UQCC_ENST00000374384.2_Silent_p.S50S|UQCC_ENST00000397556.3_Intron Q9NVA1 UQCC_HUMAN 50 cytoplasmic membrane-bounded vesicle breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.00252) CACATGCTCGGGACTGGCTCA 0.438000 9 39 0 0 0.004482 0 0 TG 7038 broad.mit.edu 37 8 133925407 133925407 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:133925407C>T ENST00000220616.4 + 20 4315 c.4275C>T c.(4273-4275)ctC>ctT p.L1425L TG_ENST00000377869.1_Silent_p.L1425L NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1425 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TCCGCTTCCTCCAAGGGGACC 0.557000 7 41 0 0 0.001984 0 0 BCL11B 64919 broad.mit.edu 37 14 99724148 99724148 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:99724148G>A ENST00000345514.2 - 2 353 c.87C>T c.(85-87)atC>atT p.I29I BCL11B_ENST00000357195.3_Silent_p.I29I|BCL11B_ENST00000443726.2_Intron NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 0 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) CTTCTTCGAGGATGGCGGCCT 0.592000 T TLX3 T-ALL 8 29 0 0 0.006214 0 0 ASXL3 80816 broad.mit.edu 37 18 31326339 31326339 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:31326339G>A ENST00000269197.5 + 12 6527 c.6527G>A c.(6526-6528)gGg>gAg p.G2176E NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 2176 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 AAGTCCATTGGGATTTTGGGA 0.483000 31 78 0 0 0.003755 0 0 RARS 5917 broad.mit.edu 37 5 167944974 167944974 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:167944974C>T ENST00000231572.3 + 14 1834 c.1780C>T c.(1780-1782)Ctc>Ttc p.L594F RARS_ENST00000538719.1_Missense_Mutation_p.L388F NM_002887.3 NP_002878.2 P54136 SYRC_HUMAN arginyl-tRNA synthetase 594 arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1) 22 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) TGACTTATTTCTCCACACTCT 0.408000 10 27 0 0 0.006214 0 0 MLKL 197259 broad.mit.edu 37 16 74709572 74709572 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr16:74709572G>A ENST00000308807.7 - 8 1592 c.1129C>T c.(1129-1131)Ctc>Ttc p.L377F MLKL_ENST00000306247.7_Intron NM_152649.2 NP_689862.1 Q8NB16 MLKL_HUMAN mixed lineage kinase domain-like 377 Protein kinase. ATP binding|protein binding|protein kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2) 19 TGAGGTGAGAGATATGCTGTA 0.393000 23 56 0 0 0.003954 0 0 SLC22A14 9389 broad.mit.edu 37 3 38348031 38348031 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:38348031G>A ENST00000273173.4 + 1 605 c.514G>A c.(514-516)Gag>Aag p.E172K SLC22A14_ENST00000448498.1_Missense_Mutation_p.E172K NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 172 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) GCTGATCAATGAGGTATGTCT 0.498000 30 53 0 0 0.012213 0 0 PLGRKT 55848 broad.mit.edu 37 9 5361791 5361791 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:5361791A>T ENST00000223864.2 - 4 400 c.179T>A c.(178-180)tTt>tAt p.F60Y PLGRKT_ENST00000482696.1_5'UTR NM_018465.3 NP_060935.2 Q9HBL7 CI046_HUMAN plasminogen receptor, C-terminal lysine transmembrane protein 60 integral to membrane AAGGCCAAAAAAAGTTCCAAA 0.388000 12 27 0 0 0.013537 0 0 MYL1 4632 broad.mit.edu 37 2 211158512 211158512 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:211158512T>A ENST00000352451.3 - 5 638 c.491A>T c.(490-492)aAa>aTa p.K164I MYL1_ENST00000341685.4_Missense_Mutation_p.K120I|MYL1_ENST00000496436.1_5'UTR NM_079420.2 NP_524144.1 P05976 MYL1_HUMAN myosin, light chain 1, alkali; skeletal, fast 164 EF-hand 3. muscle filament sliding|muscle organ development cytosol|muscle myosin complex|sarcomere calcium ion binding|structural constituent of muscle breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057) TTCTTCCTCTTTCATCTTTTC 0.448000 63 124 0 0 0.014410 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17699657 17699657 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:17699657C>T ENST00000399080.2 - 1 49 c.26G>A c.(25-27)cGg>cAg p.R9Q NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 9 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTCGGCCATCCGCGGCGTGGG 0.612000 30 71 0 0 0.013726 0 0 CNTN5 53942 broad.mit.edu 37 11 100126527 100126527 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:100126527G>A ENST00000524871.1 + 17 2331 c.2041G>A c.(2041-2043)Gaa>Aaa p.E681K CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.E607K|CNTN5_ENST00000528682.1_Missense_Mutation_p.E681K|CNTN5_ENST00000527185.1_Missense_Mutation_p.E681K|CNTN5_ENST00000279463.3_Missense_Mutation_p.E681K NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 681 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AATTGTTGAGGAAATAACCGA 0.478000 20 45 0 0 0.008871 0 0 GATA4 2626 broad.mit.edu 37 8 11606581 11606581 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:11606581C>T ENST00000335135.4 + 3 1328 c.770C>T c.(769-771)cCt>cTt p.P257L GATA4_ENST00000528712.1_Missense_Mutation_p.P51L|GATA4_ENST00000532059.1_Missense_Mutation_p.P258L NM_002052.3 NP_002043.2 P43694 GATA4_HUMAN GATA binding protein 4 257 atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development nucleoplasm activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10) 13 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) CTCATCAAGCCTCAGCGCCGG 0.617000 15 20 0 0 0.002450 0 0 CDK18 5129 broad.mit.edu 37 1 205499779 205499779 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:205499779G>A ENST00000360066.2 + 15 1637 c.1336G>A c.(1336-1338)Gag>Aag p.E446K CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Missense_Mutation_p.E446K|CDK18_ENST00000506784.1_Missense_Mutation_p.E476K NM_002596.3|NM_212502.2|NM_212503.2 NP_002587.2|NP_997667.1|NP_997668.1 Q07002 CDK18_HUMAN cyclin-dependent kinase 18 444 ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 CTCCCTGAAGGAGATCCAGCT 0.612000 13 14 0 0 0.003163 0 0 TIAM2 26230 broad.mit.edu 37 6 155451112 155451112 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:155451112C>T ENST00000461783.3 + 6 2028 c.755C>T c.(754-756)tCc>tTc p.S252F TIAM2_ENST00000456144.1_Missense_Mutation_p.S252F|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Missense_Mutation_p.S252F|TIAM2_ENST00000318981.5_Missense_Mutation_p.S252F|TIAM2_ENST00000360366.4_Missense_Mutation_p.S252F Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 252 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) TGGTACGACTCCCCTTGGGGC 0.657000 27 71 0 0 0.006320 0 0 WBP11P1 441818 broad.mit.edu 37 18 30092380 30092380 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:30092380C>T ENST00000567636.1 + 0 755 NR_003558.1 ACGTGGTGTTCCACATTTGCC 0.562000 8 33 0 0 0.003080 0 0 AGXT2 64902 broad.mit.edu 37 5 35037047 35037047 + Splice_Site SNP C C A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr5:35037047C>A ENST00000231420.6 - 4 686 c.486_splice c.e4+1 p.K162_splice NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 162 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) AGCATTGTACCTTAAGAGGCT 0.502000 8 52 1.58986e-06 1.72896e-06 0.008291 1 0 THSD7B 80731 broad.mit.edu 37 2 137990485 137990485 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:137990485C>T ENST00000409968.1 + 9 2110 c.1932C>T c.(1930-1932)ccC>ccT p.P644P THSD7B_ENST00000272643.3_Silent_p.P644P|THSD7B_ENST00000413152.2_Silent_p.P613P|THSD7B_ENST00000543459.1_Intron 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) AGCCATGTCCCCCTAGTCAGG 0.458000 16 28 0 0 0.006122 0 0 CPNE4 131034 broad.mit.edu 37 3 131274351 131274351 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:131274351G>A ENST00000512055.1 - 16 3232 c.1106C>T c.(1105-1107)cCa>cTa p.P369L CPNE4_ENST00000511604.1_Missense_Mutation_p.P369L|CPNE4_ENST00000429747.1_Missense_Mutation_p.P369L|CPNE4_ENST00000502818.1_Missense_Mutation_p.P387L|CPNE4_ENST00000512332.1_Missense_Mutation_p.P387L Q96A23 CPNE4_HUMAN copine IV 369 VWFA. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 CGTGTACTCTGGAGGTATCCT 0.428000 12 38 0 0 0.002450 0 0 ADNP 23394 broad.mit.edu 37 20 49510758 49510758 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:49510758A>T ENST00000396029.3 - 5 1060 c.493T>A c.(493-495)Tat>Aat p.Y165N ADNP_ENST00000371602.4_Missense_Mutation_p.Y165N|ADNP_ENST00000349014.3_Missense_Mutation_p.Y165N|ADNP_ENST00000396032.3_Missense_Mutation_p.Y165N NM_015339.2 NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 165 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 TTACAGTAATAAACAGCTTGC 0.428000 19 111 0 0 0.014323 0 0 GSTM2 2946 broad.mit.edu 37 1 110212149 110212149 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:110212149G>A ENST00000369831.2 + 5 410 c.316G>A c.(316-318)Gac>Aac p.D106N GSTM2_ENST00000241337.4_Missense_Mutation_p.D106N|GSTM2_ENST00000369827.3_Missense_Mutation_p.D104N|GSTM2_ENST00000414179.2_Missense_Mutation_p.D2N|GSTM2_ENST00000442650.1_Missense_Mutation_p.D106N|GSTM2_ENST00000460717.3_Missense_Mutation_p.D106N|GSTM2_ENST00000464206.1_Intron|GSTM2_ENST00000369829.2_Missense_Mutation_p.D106N glutathione S-transferase mu 2 (muscle) kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2) 11 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227) CCAGTTTATGGACAGCCGTAT 0.542000 13 18 0 0 0.002450 0 0 MIR1269A 100302177 broad.mit.edu 37 4 67142602 67142602 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:67142602G>A ENST00000408636.1 + 0 61 NR_031673.1 accacctgaggaatgcctgga 0.547000 20 16 0 0 0.007413 0 0 FAM19A1 407738 broad.mit.edu 37 3 68466508 68466508 + Missense_Mutation SNP A A T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:68466508A>T ENST00000478136.1 + 3 687 c.197A>T c.(196-198)aAg>aTg p.K66M FAM19A1_ENST00000496687.1_Missense_Mutation_p.K66M|FAM19A1_ENST00000491017.1_3'UTR NM_213609.3 NP_998774.2 Q7Z5A9 F19A1_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 66 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) CAAACAGTAAAGTGTTCCTGT 0.483000 27 69 0 0 0.006320 0 0 ADIPOR2 79602 broad.mit.edu 37 12 1893198 1893198 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:1893198C>T ENST00000357103.4 + 7 1242 c.991C>T c.(991-993)Cgg>Tgg p.R331W NM_024551.2 NP_078827.2 Q86V24 ADR2_HUMAN adiponectin receptor 2 331 fatty acid oxidation|hormone-mediated signaling pathway integral to membrane hormone binding|receptor activity endometrium(1)|large_intestine(3)|lung(7)|stomach(1) 12 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000382) GTATGCTGCCCGGATCCCCGA 0.547000 32 20 0 0 0.013726 0 0 C13orf35 400165 broad.mit.edu 37 13 113333696 113333696 + Translation_Start_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr13:113333696G>A ENST00000356049.1 + 2 761 c.3G>A c.(1-3)atG>atA p.M1I NM_207440.1 NP_997323.1 Q6ZP68 CM035_HUMAN chromosome 13 open reading frame 35 1 breast(1)|lung(2)|ovary(1)|prostate(1) 5 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 cancers(43;0.201) TTGTTAGGATGAACTCACCAG 0.552000 7 35 0 0 0.001984 0 0 KHDC1 80759 broad.mit.edu 37 6 73951256 73951256 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr6:73951256G>A ENST00000370384.3 - 5 1210 c.710C>T c.(709-711)cCg>cTg p.P237L RP11-257K9.8_ENST00000423730.3_Intron|KHDC1_ENST00000257765.5_Missense_Mutation_p.P164L NM_001251874.1 NP_001238803.1 Q4VXA5 KHDC1_HUMAN KH homology domain containing 1 237 integral to membrane RNA binding large_intestine(1)|lung(4)|skin(1) 6 CCTTAATTACGGATACAGTGA 0.468000 33 61 0 0 0.003755 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37486386 37486386 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:37486386G>A ENST00000374660.1 + 35 2982 c.2883G>A c.(2881-2883)aaG>aaA p.K961K ANKRD30A_ENST00000361713.1_Silent_p.K842K|ANKRD30A_ENST00000602533.1_Silent_p.K842K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1010 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TGGAATTGAAGAATGAACAAA 0.338000 4 31 0 0 0.004482 0 0 CPAMD8 27151 broad.mit.edu 37 19 17091331 17091331 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:17091331G>A ENST00000443236.1 - 14 1733 c.1702C>T c.(1702-1704)Cgt>Tgt p.R568C CPAMD8_ENST00000388925.4_Intron NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 521 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 TGTGTTAAACGAATCGGTTTC 0.592000 17 62 0 0 0.006122 0 0 KCNQ3 3786 broad.mit.edu 37 8 133141540 133141540 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr8:133141540G>A ENST00000388996.4 - 15 3008 c.2588C>T c.(2587-2589)tCa>tTa p.S863L KCNQ3_ENST00000521134.1_Missense_Mutation_p.S743L|KCNQ3_ENST00000519445.1_Missense_Mutation_p.S851L NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 863 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GGTCCATACTGAATCAGAAAT 0.532000 11 43 0 0 0.013537 0 0 IFNA2 3440 broad.mit.edu 37 9 21384864 21384864 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:21384864C>T ENST00000380206.2 - 1 532 c.465G>A c.(463-465)gaG>gaA p.E155E NM_000605.3 NP_000596.2 P01563 IFNA2_HUMAN interferon, alpha 2 155 blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1) 13 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173) Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) TGTATTTCTTCTCTTTCAGAT 0.438000 32 161 0 0 0.013726 0 0 VIT 5212 broad.mit.edu 37 2 36982190 36982190 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:36982190C>T ENST00000379242.3 + 5 704 c.402C>T c.(400-402)atC>atT p.I134I VIT_ENST00000401530.1_Silent_p.I134I|VIT_ENST00000404084.1_Silent_p.I112I|VIT_ENST00000389975.3_Silent_p.I134I|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Silent_p.I134I|VIT_ENST00000457137.2_Silent_p.I134I NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 134 proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) AATCCTTTATCGTCTTAGGTA 0.443000 7 32 0 0 0.001984 0 0 SOGA2 23255 broad.mit.edu 37 18 8798221 8798221 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr18:8798221T>C ENST00000359865.3 + 10 2510 c.2368T>C c.(2368-2370)Tcc>Ccc p.S790P SOGA2_ENST00000400050.3_Missense_Mutation_p.S749P|SOGA2_ENST00000306329.11_Missense_Mutation_p.S1109P|SOGA2_ENST00000517570.1_Missense_Mutation_p.S749P|SOGA2_ENST00000518815.1_Missense_Mutation_p.S105P|SOGA2_ENST00000306285.7_Missense_Mutation_p.S105P NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1100 CTCCCCACACTCCCGGGTGCA 0.672000 13 25 0 0 0.003163 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12855945 12855945 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:12855945C>T ENST00000332296.7 + 4 1328 c.1225C>T c.(1225-1227)Ctg>Ttg p.L409L PRAMEF1_ENST00000400814.3_Silent_p.L164L NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 409 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) CAAGTTAAGCCTGGAGACGTA 0.537000 34 100 0 0 0.011902 0 0 LUZP2 338645 broad.mit.edu 37 11 24936033 24936033 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr11:24936033C>T ENST00000533227.1 + 7 500 c.213C>T c.(211-213)atC>atT p.I71I LUZP2_ENST00000336930.6_Silent_p.I157I NM_001009909.3|NM_001252008.1 NP_001009909.2|NP_001238937.1 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 157 extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 CAAAAAAAATCCAAGCCCAGC 0.343000 8 21 0 0 0.008291 0 0 TTN 7273 broad.mit.edu 37 2 179425679 179425679 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:179425679C>T ENST00000589042.1 - 326 85404 c.85180G>A c.(85180-85182)Gat>Aat p.D28394N TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D19329N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D19454N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D25826N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D19521N|TTN_ENST00000591111.1_Missense_Mutation_p.D26753N|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26753 Fibronectin type-III 107. 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) TCTATACCATCCTTGGCCCAG 0.418000 24 63 0 0 0.002780 0 0 CFI 3426 broad.mit.edu 37 4 110667403 110667403 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:110667403G>A ENST00000394634.2 - 11 1611 c.1404C>T c.(1402-1404)atC>atT p.I468I CFI_ENST00000512148.1_Silent_p.I461I|CFI_ENST00000394635.3_Silent_p.I476I NM_000204.3 NP_000195.2 P05156 CFAI_HUMAN complement factor I 468 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) AGCCAGAAACGATGCATGTAT 0.408000 7 27 0 0 0.001984 0 0 MLH3 27030 broad.mit.edu 37 14 75513753 75513753 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:75513753G>A ENST00000355774.2 - 2 2821 c.2606C>T c.(2605-2607)tCa>tTa p.S869L MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.S869L|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000556740.1_Missense_Mutation_p.S869L|MLH3_ENST00000556257.1_Missense_Mutation_p.S869L NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 869 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) TGATTCAGATGACTTCTCAAG 0.383000 Mismatch excision repair (MMR) 22 123 0 0 0.002780 0 0 TACR2 6865 broad.mit.edu 37 10 71174784 71174784 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr10:71174784G>A ENST00000373306.4 - 2 1047 c.504C>T c.(502-504)ttC>ttT p.F168F NM_001057.2 NP_001048.2 P21452 NK2R_HUMAN tachykinin receptor 2 168 excretion|muscle contraction integral to plasma membrane tachykinin receptor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 11 Clonidine(DB00575)|Octreotide(DB00104) CGGTGGAGTAGAAGCACTGAG 0.652000 10 37 0 0 0.010729 0 0 ITIH3 3699 broad.mit.edu 37 3 52836469 52836469 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:52836469C>T ENST00000449956.2 + 12 1509 c.1503C>T c.(1501-1503)atC>atT p.I501I ITIH3_ENST00000416872.2_Silent_p.I501I NM_002217.3 NP_002208.3 Q06033 ITIH3_HUMAN inter-alpha-trypsin inhibitor heavy chain 3 501 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 25 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) GCTCTGAGATCGTGGTGGCCG 0.602000 10 31 0 0 0.001855 0 0 TRPM6 140803 broad.mit.edu 37 9 77390969 77390969 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:77390969G>A ENST00000451710.3 - 24 3470 c.3233C>T c.(3232-3234)tCc>tTc p.S1078F TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.S1078F|TRPM6_ENST00000449912.2_Missense_Mutation_p.S1073F|TRPM6_ENST00000360774.1_Missense_Mutation_p.S1078F|TRPM6_ENST00000361255.3_Missense_Mutation_p.S1073F|TRPM6_ENST00000376872.3_Intron Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1078 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 ATTTGAAATGGATTCCATATC 0.428000 10 52 0 0 0.008291 0 0 ZNF177 7730 broad.mit.edu 37 19 9491886 9491886 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:9491886C>T ENST00000541595.2 + 12 1028 c.399C>T c.(397-399)ttC>ttT p.F133F ZNF177_ENST00000343499.4_Silent_p.F133F|ZNF177_ENST00000589262.1_Silent_p.F293F|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000602738.1_Silent_p.F133F|ZNF177_ENST00000434737.2_Silent_p.F293F|ZNF177_ENST00000446085.4_3'UTR NM_001172650.2 NP_001166121.1 Q13360 ZN177_HUMAN zinc finger protein 177 133 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2) 13 GGAAAGCCTTCATTTTTCAGT 0.438000 7 62 0 0 0.001984 0 0 TBPL2 387332 broad.mit.edu 37 14 55907199 55907199 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:55907199G>A ENST00000247219.5 - 1 135 c.65C>T c.(64-66)cCg>cTg p.P22L NM_199047.2 NP_950248.1 Q6SJ96 TBPL2_HUMAN TATA box binding protein like 2 22 Poly-Pro. multicellular organismal development|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 8 GGGTGGGGGCGGGTAAGAGGG 0.692000 20 40 0 0 0.014323 0 0 UNC79 57578 broad.mit.edu 37 14 94071282 94071282 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:94071282C>T ENST00000553484.1 + 27 3949 c.3795C>T c.(3793-3795)ctC>ctT p.L1265L UNC79_ENST00000555664.1_Intron|UNC79_ENST00000393151.2_Intron|UNC79_ENST00000256339.4_Intron Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1252 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 CTCCAGCTCTCGGTGGGACAC 0.473000 5 6 0 0 0.001168 0 0 C9orf24 84688 broad.mit.edu 37 9 34397524 34397524 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:34397524G>A ENST00000297623.2 - 1 306 c.108C>T c.(106-108)gcC>gcT p.A36A NM_032596.3 NP_115985.2 Q8NCR6 CI024_HUMAN chromosome 9 open reading frame 24 36 endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.123) TGGCTTCCCAGGCACACAGGG 0.557000 10 77 0 0 0.008291 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159818734 159818734 + RNA SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:159818734G>A ENST00000497452.1 - 0 517 AGGAGGGAACGAAGTCACCGA 0.507000 19 67 0 0 0.006122 0 0 NLRC4 58484 broad.mit.edu 37 2 32476179 32476179 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:32476179C>T ENST00000404025.2 - 5 1242 c.754G>A c.(754-756)Gaa>Aaa p.E252K NLRC4_ENST00000360906.5_Missense_Mutation_p.E252K|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.E252K Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 252 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GGCTTGAATTCATTGTAGCCA 0.498000 37 68 0 0 0.006999 0 0 ZNF592 9640 broad.mit.edu 37 15 85326275 85326275 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:85326275C>T ENST00000299927.3 + 1 391 c.369C>T c.(367-369)ttC>ttT p.F123F ZNF592_ENST00000560079.2_Silent_p.F123F Q92610 ZN592_HUMAN zinc finger protein 592 123 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) CCAGGAGTTTCCCTGGCAAAC 0.502000 26 40 0 0 0.003954 0 0 ACAN 176 broad.mit.edu 37 15 89401939 89401939 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr15:89401939C>T ENST00000439576.2 + 12 6497 c.6123C>T c.(6121-6123)ttC>ttT p.F2041F ACAN_ENST00000352105.7_Silent_p.F2041F|ACAN_ENST00000559004.1_Silent_p.F2041F|ACAN_ENST00000561243.1_Silent_p.F2041F NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2041 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) CTTCTGAGTTCGTGGAGGGTG 0.502000 9 19 0 0 0.008291 0 0 MEI1 150365 broad.mit.edu 37 22 42189900 42189900 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr22:42189900G>A ENST00000401548.3 + 27 3453 c.3413G>A c.(3412-3414)cGg>cAg p.R1138Q MEI1_ENST00000400107.1_Missense_Mutation_p.R471Q|MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000300398.4_Missense_Mutation_p.R146Q NM_152513.3 NP_689726.3 Q5TIA1 MEI1_HUMAN meiosis inhibitor 1 1138 binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 CTGGATGCCCGGAGCCCAGAC 0.507000 5 21 0 0 0.001168 0 0 KCNH1 3756 broad.mit.edu 37 1 210948696 210948696 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:210948696C>T ENST00000367007.4 - 10 2194 c.2025G>A c.(2023-2025)agG>agA p.R675R KCNH1_ENST00000271751.4_Silent_p.R702R NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 702 Calmodulin-binding. myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) TCACCCTCTTCCTCAAGTTGT 0.448000 5 22 0 0 0.001168 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83320119 83320119 + Splice_Site SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:83320119C>T ENST00000262752.2 - 21 1979 c.1971_splice c.e21-1 p.D658_splice RPS6KA6_ENST00000543399.1_Splice_Site_p.D658_splice NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 658 Protein kinase 2. 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 GAAAGCAAATCCTAAATTAAA 0.338000 11 6 0 0 0.008291 0 0 LEPR 3953 broad.mit.edu 37 1 66088588 66088588 + Splice_Site SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:66088588G>A ENST00000349533.6 + 19 2782 c.e19-1 LEPR_ENST00000344610.8_Splice_Site|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Splice_Site|LEPR_ENST00000371059.3_Splice_Site|LEPR_ENST00000371058.1_Splice_Site NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) ATCCTTTGTAGAATGAAAAAG 0.348000 6 30 0 0 0.001168 0 0 CTCFL 140690 broad.mit.edu 37 20 56098996 56098996 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:56098996G>A ENST00000426658.2 - 1 927 c.266C>T c.(265-267)tCt>tTt p.S89F CTCFL_ENST00000422869.2_Missense_Mutation_p.S89F|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000371196.2_Missense_Mutation_p.S89F|CTCFL_ENST00000433949.2_Missense_Mutation_p.S89F|CTCFL_ENST00000423479.2_Missense_Mutation_p.S89F|CTCFL_ENST00000432255.2_Missense_Mutation_p.S89F|CTCFL_ENST00000429804.2_Missense_Mutation_p.S89F|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000243914.3_Missense_Mutation_p.S89F|CTCFL_ENST00000422109.2_Missense_Mutation_p.S89F Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 89 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CACAGCTTCAGAAGTGAAGTG 0.587000 16 41 0 0 0.004007 0 0 FAM179A 165186 broad.mit.edu 37 2 29274906 29274906 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:29274906G>A ENST00000379558.4 + 20 3358 c.3007G>A c.(3007-3009)Gtg>Atg p.V1003M FAM179A_ENST00000403861.2_Missense_Mutation_p.V948M|FAM179A_ENST00000465300.1_3'UTR NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 1003 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TGACAGAGGGGTGGCCCCTGA 0.502000 4 29 0 0 0.000602 0 0 SPATA17 128153 broad.mit.edu 37 1 217955562 217955562 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:217955562C>T ENST00000366933.4 + 8 825 c.770C>T c.(769-771)cCt>cTt p.P257L RP11-415L24.1_ENST00000415765.1_RNA NM_138796.2 NP_620151.1 Q96L03 SPT17_HUMAN spermatogenesis associated 17 257 cytoplasm calmodulin binding endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) CGCTACAGGCCTTTGGAGCCA 0.443000 22 42 0 0 0.004656 0 0 SLC37A1 54020 broad.mit.edu 37 21 43988541 43988541 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr21:43988541C>T ENST00000352133.2 + 17 2398 c.1416C>T c.(1414-1416)ggC>ggT p.G472G SLC37A1_ENST00000398341.3_Silent_p.G472G P57057 GLPT_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 1 472 carbohydrate transport|transmembrane transport integral to membrane breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3) 15 ACGGGACGGGCTCTGTAGGTG 0.537000 6 6 0 0 0.003080 0 0 UGT2B17 7367 broad.mit.edu 37 4 69416504 69416504 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr4:69416504C>T ENST00000317746.2 - 5 1246 c.1204G>A c.(1204-1206)Gat>Aat p.D402N NM_001077.3 NP_001068.1 O75795 UDB17_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B17 402 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 GCAATGTTATCATGTTGATCC 0.448000 67 61 0 0 0.014410 0 0 BCL11B 64919 broad.mit.edu 37 14 99723868 99723868 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr14:99723868C>T ENST00000345514.2 - 2 633 c.367G>A c.(367-369)Gaa>Aaa p.E123K BCL11B_ENST00000357195.3_Missense_Mutation_p.E123K|BCL11B_ENST00000443726.2_Intron NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 517 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) TGGTCATCTTCGTCGGGGGTG 0.607000 T TLX3 T-ALL 43 51 0 0 0.009718 0 0 TSIX 9383 broad.mit.edu 37 X 73045926 73045926 + RNA SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:73045926C>T ENST00000604411.1 + 0 33887 XIST_ENST00000429829.1_lincRNA NR_003255.2 CACTAGAAATCCCAAACCCCA 0.488000 38 17 0 0 0.004289 0 0 CYP3A43 64816 broad.mit.edu 37 7 99447176 99447176 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr7:99447176G>A ENST00000342499.4 + 5 466 c.116G>A c.(115-117)tGg>tAg p.W39* CYP3A43_ENST00000354829.2_Missense_Mutation_p.G177R|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000222382.5_Missense_Mutation_p.G177R|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000312017.5_Missense_Mutation_p.G177R|CYP3A43_ENST00000477658.1_Intron Q9HB55 CP343_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 43 399 YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) CAGTTTCTTTGGGGCCTACAC 0.408000 13 50 0 0 0.002450 0 0 EPHB3 2049 broad.mit.edu 37 3 184289160 184289160 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:184289160C>T ENST00000330394.2 + 2 625 c.173C>T c.(172-174)cCa>cTa p.P58L EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 58 integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) ACATCTCATCCAGAAAGTGGG 0.537000 21 35 0 0 0.002780 0 0 PTPRF 5792 broad.mit.edu 37 1 44069540 44069542 + In_Frame_Del DEL AGG AGG - TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:44069540_44069542delAGG ENST00000359947.4 + 16 3057_3059 c.2717_2719delAGG c.(2716-2721)aag>a p.KE906del PTPRF_ENST00000372414.3_In_Frame_Del_p.KE906del|PTPRF_ENST00000422171.2_In_Frame_Del_p.KE254del|PTPRF_ENST00000438120.1_In_Frame_Del_p.KE897del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_In_Frame_Del_p.KE897del NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 906 Fibronectin type-III 6. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GAGTTCGAGAAGGAGATCAGGAC 0.616 16 58 --- --- --- --- LOC101928979 101928979 broad.mit.edu 37 1 145378949 145378950 + RNA INS - - G rs138005187 by1000genomes TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:145378949_145378950insG ENST00000419817.1 - 0 307 ATGAAACGCGCCATTAGTACTG 0.460 2 4 --- --- --- --- KCNN3 3782 broad.mit.edu 37 1 154842331 154842333 + In_Frame_Del DEL TGC TGC - TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:154842331_154842333delTGC ENST00000271915.3 - 1 423_425 c.108_110delGCA c.(106-111)caa>ca p.QQ40del NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 40 Poly-Gln. integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) ctgctgctgttgctgctgctgct 0.670 2 4 --- --- --- --- RALGPS2 55103 broad.mit.edu 37 1 178846645 178846646 + In_Frame_Ins INS - - AGATAT TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:178846645_178846646insAGATAT ENST00000367635.3 + 9 958_959 c.620_621insAGATAT c.(619-621)tga>tAGATATga p.207_207*>*I* RALGPS2_ENST00000324778.4_In_Frame_Ins_p.172_172*>*I*|RALGPS2_ENST00000367634.2_In_Frame_Ins_p.207_207*>*I* NM_152663.3 NP_689876.2 Q86X27 RGPS2_HUMAN Ral GEF with PH domain and SH3 binding motif 2 207 Ras-GEF. small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 ATCTATTTGTCAGATTTAACAT 0.337 9 29 --- --- --- --- CFH 3075 broad.mit.edu 37 1 196706058 196706059 + Frame_Shift_Ins INS - - A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr1:196706058_196706059insA ENST00000367429.4 + 16 2758_2759 c.2518_2519insA c.(2518-2520)agafs p.R840fs NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 840 Sushi 14. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TGTTCTTTGCCAAGAAAATTAT 0.371 11 29 --- --- --- --- TANC1 85461 broad.mit.edu 37 2 160035379 160035381 + In_Frame_Del DEL CTT CTT - TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr2:160035379_160035381delCTT ENST00000263635.6 + 14 2452_2454 c.2215_2217delCTT c.(2215-2217)del p.L739del TANC1_ENST00000454300.1_In_Frame_Del_p.L633del NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 739 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 GCTCTATTTGCTTCAGTGCAACA 0.552 65 145 --- --- --- --- POU1F1 5449 broad.mit.edu 37 3 87313522 87313522 + Frame_Shift_Del DEL C C - TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr3:87313522delC ENST00000350375.2 - 3 479 c.355delG c.(355-357)aafs p.E120fs POU1F1_ENST00000560656.1_Frame_Shift_Del_p.E120fs|POU1F1_ENST00000344265.3_Frame_Shift_Del_p.E146fs NM_000306.2 NP_000297.1 P28069 PIT1_HUMAN POU class 1 homeobox 1 120 negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2) 18 all_cancers(8;0.104)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677) ATTGGCTCTTCCACCAATTTA 0.418 43 97 --- --- --- --- IARS 3376 broad.mit.edu 37 9 95050130 95050130 + Frame_Shift_Del DEL A A - TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr9:95050130delA ENST00000375643.3 - 4 605 c.339delT c.(337-339)atfs p.I113fs IARS_ENST00000447699.2_Frame_Shift_Del_p.I3fs|IARS_ENST00000443024.2_Frame_Shift_Del_p.I113fs|IARS_ENST00000375629.3_5'UTR NM_013417.2 NP_038203.2 P41252 SYIC_HUMAN isoleucyl-tRNA synthetase 113 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) TATACTCTGTAATCCCCATTT 0.403 15 34 --- --- --- --- HOXC9 3225 broad.mit.edu 37 12 54394446 54394447 + Frame_Shift_Ins INS - - T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:54394446_54394447insT ENST00000303450.4 + 1 544_545 c.474_475insT c.(472-477)cccgccfs p.A159fs HOXC9_ENST00000504557.1_Intron|HOXC9_ENST00000508190.1_Frame_Shift_Ins_p.A159fs NM_006897.1 NP_008828.1 P31274 HXC9_HUMAN homeobox C9 159 multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 14 AGACACTGCCCTCGCCCGAGGC 0.708 8 4 --- --- --- --- TMEM132D 121256 broad.mit.edu 37 12 129559393 129559394 + Frame_Shift_Ins INS - - A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr12:129559393_129559394insA ENST00000422113.2 - 9 2652_2653 c.2326_2327insT c.(2326-2328)ctgfs p.L776fs TMEM132D_ENST00000389441.4_Frame_Shift_Ins_p.L314fs NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 776 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TTTCTGGCAGGATTCACTAATA 0.475 55 33 --- --- --- --- ACADVL 37 broad.mit.edu 37 17 7126487 7126488 + Frame_Shift_Ins INS - - A rs145701525 TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr17:7126487_7126488insA ENST00000356839.5 + 11 1292_1293 c.1113_1114insA c.(1111-1116)gaaaatfs p.N372fs ACADVL_ENST00000543245.2_Frame_Shift_Ins_p.N395fs|ACADVL_ENST00000350303.5_Frame_Shift_Ins_p.N350fs NM_000018.3|NM_001270448.1 NP_000009.1|NP_001257377.1 P49748 ACADV_HUMAN acyl-CoA dehydrogenase, very long chain 372 Catalytic. energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial inner membrane|mitochondrial nucleoid long-chain-acyl-CoA dehydrogenase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1) 21 AGTTTGGGGAGAAAATTCACAA 0.554 74 78 --- --- --- --- ZNF790 388536 broad.mit.edu 37 19 37309781 37309782 + Frame_Shift_Ins INS - - A rs79499850 byFrequency TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:37309781_37309782insA ENST00000356725.4 - 5 1584_1585 c.1464_1465insT c.(1462-1467)ttgtggfs p.LW488fs CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA NM_001242802.1|NM_206894.3 NP_001229731.1|NP_996777.2 Q6PG37 ZN790_HUMAN zinc finger protein 790 488 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 32 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TCTGAACCACGAAAAAAGGTCT 0.391 17 56 --- --- --- --- NUMBL 9253 broad.mit.edu 37 19 41173866 41173868 + In_Frame_Del DEL TGC TGC - TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:41173866_41173868delTGC ENST00000252891.4 - 10 1502_1504 c.1335_1337delGCA c.(1333-1338)caa>ca p.QQ445del NUMBL_ENST00000598779.1_In_Frame_Del_p.QQ404del|NUMBL_ENST00000540131.1_In_Frame_Del_p.QQ404del NM_004756.3 NP_004747.1 Q9Y6R0 NUMBL_HUMAN numb homolog (Drosophila)-like 445 Poly-Gln. cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process cytoplasm protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2) 16 Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105) TGAGgctgcttgctgctgttgct 0.670 3 5 --- --- --- --- IRF3 3661 broad.mit.edu 37 19 50165513 50165513 + Frame_Shift_Del DEL C C - TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr19:50165513delC ENST00000597198.1 - 6 1055 c.674delG c.(673-675)gcfs p.G225fs IRF3_ENST00000601291.1_Frame_Shift_Del_p.G225fs|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000599144.1_Frame_Shift_Del_p.G79fs|IRF3_ENST00000377139.3_Frame_Shift_Del_p.G225fs|IRF3_ENST00000309877.7_Frame_Shift_Del_p.G225fs|IRF3_ENST00000598808.1_Frame_Shift_Del_p.G79fs|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000593922.1_Frame_Shift_Del_p.G79fs|IRF3_ENST00000600911.1_Frame_Shift_Del_p.G225fs Q14653 IRF3_HUMAN interferon regulatory factor 3 225 Involved in HERC5 binding. interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1) 10 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02) CAGCCGCAGGCCCTCCGGGCA 0.652 22 61 --- --- --- --- PPP1R3D 5509 broad.mit.edu 37 20 58514976 58514976 + Frame_Shift_Del DEL C C - TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chr20:58514976delC ENST00000370996.3 - 1 376 c.11delG c.(10-12)gcfs p.G4fs FAM217B_ENST00000358293.3_Intron NM_006242.3 NP_006233.1 O95685 PPR3D_HUMAN protein phosphatase 1, regulatory subunit 3D 4 glycogen metabolic process protein binding|protein serine/threonine phosphatase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1) 13 all_lung(29;0.00391) BRCA - Breast invasive adenocarcinoma(7;5.12e-09) GGAGCTCGGGCCTCTGGACAT 0.721 2 4 --- --- --- --- ARSF 416 broad.mit.edu 37 X 3002534 3002535 + Frame_Shift_Ins INS - - TTTT TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04aa6b77-8074-480c-872e-a1a47afa5314 9ff91018-9d55-43be-9ae3-945caecb0cbb g.chrX:3002534_3002535insTTTT ENST00000381127.1 + 6 878_879 c.657_658insTTTT c.(655-660)attctcfs p.L220fs ARSF_ENST00000359361.2_Frame_Shift_Ins_p.L220fs|ARSF_ENST00000537104.1_Frame_Shift_Ins_p.L220fs NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 220 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGCTCCTGATCTTCTCCATGAT 0.545 23 29 --- --- --- ---