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 FUNDC2P2 388965 broad.mit.edu 37 2 84518335 84518335 + RNA SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:84518335G>A ENST00000331369.5 + 0 529 TGTCATTTGTGAAGAAAAATG 0.448000 29 109 0 0 1 0 0 SNRPB 6628 broad.mit.edu 37 20 2443305 2443305 + Missense_Mutation SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr20:2443305C>T ENST00000339610.6 - 7 880 c.425G>A c.(424-426)cGg>cAg p.R142Q SNRPB_ENST00000381342.2_Missense_Mutation_p.R221Q|SNRPB_ENST00000438552.2_Missense_Mutation_p.R221Q P14678 RSMB_HUMAN small nuclear ribonucleoprotein polypeptides B and B1 221 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|RNA binding kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 10 GGGAGGAGGCCGCATTCCCGG 0.587000 15 55 0 0 1 0 0 OR10P1 121130 broad.mit.edu 37 12 56030771 56030771 + Silent SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr12:56030771T>C ENST00000309675.2 + 1 128 c.96T>C c.(94-96)ctT>ctC p.L32L NM_206899.1 NP_996782.1 Q8NGE3 O10P1_HUMAN olfactory receptor, family 10, subfamily P, member 1 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 GGGTGGTGCTTCTGGTCTACC 0.577000 32 37 0 0 1 0 0 IGF2BP2 10644 broad.mit.edu 37 3 185407296 185407296 + Missense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:185407296G>A ENST00000382199.2 - 6 619 c.524C>T c.(523-525)tCt>tTt p.S175F IGF2BP2_ENST00000421047.2_Missense_Mutation_p.S118F|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.S175F|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.S181F NM_006548.4 NP_006539.3 Q9Y6M1 IF2B2_HUMAN insulin-like growth factor 2 mRNA binding protein 2 175 anatomical structure morphogenesis|negative regulation of translation cytoskeletal part|cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 20 all_cancers(143;5.84e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) CTCCCGGGAAGAGTGGTCCCC 0.607000 27 50 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31320534 31320534 + Splice_Site SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr15:31320534C>G ENST00000542188.1 - 24 3658 c.e24+1 TRPM1_ENST00000256552.6_Splice_Site|TRPM1_ENST00000397795.2_Splice_Site|RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 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) GTGACACGTACTTGAACACAG 0.473000 15 39 0 0 1 0 0 PIP4K2C 79837 broad.mit.edu 37 12 57985144 57985144 + Silent SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr12:57985144C>T ENST00000354947.5 + 1 88 c.72C>T c.(70-72)ttC>ttT p.F24F PIP4K2C_ENST00000422156.3_Silent_p.F24F|PIP4K2C_ENST00000550465.1_Silent_p.F24F|PIP4K2C_ENST00000540759.2_Silent_p.F24F Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, gamma 24 cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Melanoma(17;0.122) GTTTCGGCTTCGCCTCCAAGA 0.652000 27 69 0 0 1 0 0 PAQR9 344838 broad.mit.edu 37 3 142681445 142681445 + Missense_Mutation SNP A A C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:142681445A>C ENST00000340634.3 - 1 733 c.734T>G c.(733-735)tTc>tGc p.F245C NM_198504.2 NP_940906.1 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 245 integral to membrane receptor activity endometrium(2)|large_intestine(7)|lung(12)|prostate(1) 22 GACGAAGACGAAGGTGCGCAG 0.627000 11 44 0 0 1 0 0 SOX14 8403 broad.mit.edu 37 3 137484258 137484258 + Missense_Mutation SNP C C A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:137484258C>A ENST00000306087.1 + 1 680 c.632C>A c.(631-633)aCc>aAc p.T211N NM_004189.3 NP_004180.1 O95416 SOX14_HUMAN SRY (sex determining region Y)-box 14 211 negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent nucleus sequence-specific DNA binding large_intestine(2)|lung(12) 14 TCTGCCTCCACCCTGCAGCCC 0.652000 6 22 2.7689e-08 2.85501e-08 1 1 0 NOL6 65083 broad.mit.edu 37 9 33468519 33468519 + Nonsense_Mutation SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr9:33468519G>C ENST00000379471.2 - 9 1280 c.1193C>G c.(1192-1194)tCa>tGa p.S398* NOL6_ENST00000455041.2_Nonsense_Mutation_p.S338*|NOL6_ENST00000464829.1_Intron Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 398 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) AGAGGGATCTGAGCTGAGACA 0.537000 16 34 0 0 1 0 0 LY6G6D 58530 broad.mit.edu 37 6 31675274 31675274 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr6:31675274T>C ENST00000503322.1 + 2 95 c.92T>C c.(91-93)gTa>gCa p.V31A LY6G6F_ENST00000375832.4_Missense_Mutation_p.V31A|XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000556581.1_Missense_Mutation_p.V31A GGGGAGGCAGTAGAGCTGCCA 0.562000 25 41 0 0 1 0 0 AHR 196 broad.mit.edu 37 7 17379146 17379146 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr7:17379146T>C ENST00000242057.4 + 10 2340 c.1697T>C c.(1696-1698)tTt>tCt p.F566S AHR_ENST00000492120.1_3'UTR NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 566 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) AGAAATGATTTTTCTGGTGAG 0.348000 5 91 0 0 1 0 0 MDM1 56890 broad.mit.edu 37 12 68707507 68707507 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr12:68707507T>C ENST00000303145.7 - 10 1612 c.1526A>G c.(1525-1527)aAa>aGa p.K509R MDM1_ENST00000540418.1_Missense_Mutation_p.K229R|MDM1_ENST00000411698.2_Missense_Mutation_p.K474R NM_017440.4 NP_059136.2 Q8TC05 MDM1_HUMAN Mdm1 nuclear protein homolog (mouse) 509 nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7) 33 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) CCGGCCTCCTTTTTCTGAGGA 0.413000 19 52 0 0 1 0 0 AKAP12 9590 broad.mit.edu 37 6 151670523 151670523 + Missense_Mutation SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr6:151670523G>C ENST00000402676.2 + 4 1237 c.997G>C c.(997-999)Gaa>Caa p.E333Q AKAP12_ENST00000359755.5_Missense_Mutation_p.E228Q|AKAP12_ENST00000354675.6_Missense_Mutation_p.E235Q|AKAP12_ENST00000253332.1_Missense_Mutation_p.E333Q NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 333 Involved in PKC-binding (Probable). G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) ACAAGAGCCAGAAAAAGTAGA 0.542000 10 17 0 0 1 0 0 ZNF324 25799 broad.mit.edu 37 19 58983321 58983321 + Missense_Mutation SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:58983321C>T ENST00000536459.2 + 4 2171 c.1462C>T c.(1462-1464)Cgc>Tgc p.R488C ZNF324_ENST00000196482.3_Missense_Mutation_p.R488C|ZNF324_ENST00000535298.1_Missense_Mutation_p.R265C O75467 Z324A_HUMAN zinc finger protein 324 488 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2) 16 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) GCAGTGTGGCCGCGCCTTCCG 0.692000 8 72 0 0 1 0 0 ADIPOR1 51094 broad.mit.edu 37 1 202914181 202914181 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:202914181A>G ENST00000340990.5 - 5 845 c.547T>C c.(547-549)Tgc>Cgc p.C183R ADIPOR1_ENST00000436244.1_Missense_Mutation_p.C183R|ADIPOR1_ENST00000367254.3_Intron NM_015999.4 NP_057083.2 Q96A54 ADR1_HUMAN adiponectin receptor 1 183 C -> W (in Ref. 4; BAG50922). fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(75;0.141) AAGCTGAGGCAGAGCACTGCA 0.443000 34 52 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23703337 23703337 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr16:23703337C>G ENST00000256797.4 - 19 2635 c.2467G>C c.(2467-2469)Gtg>Ctg p.V823L ERN2_ENST00000457008.2_Missense_Mutation_p.V723L NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 775 KEN. apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) TGGGCCAGCACCTGGGGGGCA 0.602000 74 143 0 0 1 0 0 ENOX1 55068 broad.mit.edu 37 13 43798238 43798238 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr13:43798238C>G ENST00000261488.6 - 16 2328 c.1751G>C c.(1750-1752)gGa>gCa p.G584A ENOX1_ENST00000412891.1_Missense_Mutation_p.G584A NM_001242863.1|NM_017993.3 NP_001229792.1|NP_060463.2 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 584 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1) 34 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) TATGTTGGCTCCAAAAGGATG 0.363000 10 7 0 0 1 0 0 OPN1MW 2652 broad.mit.edu 37 X 153459033 153459033 + Silent SNP C C A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chrX:153459033C>A ENST00000369935.5 + 5 939 c.879C>A c.(877-879)gcC>gcA p.A293A NM_000513.2 NP_000504.1 P04001 OPSG_HUMAN opsin 1 (cone pigments), medium-wave-sensitive 293 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|lung(1) 2 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) TTGCTGCTGCCAACCCTGGCT 0.547000 35 58 1.21353e-23 1.30432e-23 1 1 0 CUL9 23113 broad.mit.edu 37 6 43153711 43153711 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr6:43153711T>C ENST00000252050.4 + 4 853 c.769T>C c.(769-771)Ttc>Ctc p.F257L CUL9_ENST00000354495.3_Missense_Mutation_p.F257L|CUL9_ENST00000372647.2_Missense_Mutation_p.F257L NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 257 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 AAAGCTGCTTTTCTCCTTGGT 0.532000 14 52 0 0 1 0 0 HMGXB4 10042 broad.mit.edu 37 22 35660790 35660790 + Missense_Mutation SNP T T A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr22:35660790T>A ENST00000216106.5 + 5 537 c.409T>A c.(409-411)Tct>Act p.S137T HMGXB4_ENST00000444518.2_Missense_Mutation_p.S28T NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 137 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ATCCTCTGGCTCTTCAAGCCA 0.512000 31 44 0 0 1 0 0 C6orf165 154313 broad.mit.edu 37 6 88126385 88126385 + Splice_Site SNP A A C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr6:88126385A>C ENST00000507897.1 + 6 555 c.e6-1 C6ORF165_ENST00000369562.4_Splice_Site Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 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) GGTTTATTTTAGCTGCTCTAC 0.358000 29 8 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54806578 54806578 + Missense_Mutation SNP T T A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr6:54806578T>A ENST00000306858.7 + 5 2925 c.2809T>A c.(2809-2811)Ttt>Att p.F937I NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 937 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) TTACAGTCGTTTTGAGCCGTT 0.443000 4 114 0 0 1 0 0 APITD1 378708 broad.mit.edu 37 1 10511484 10511484 + Silent SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:10511484C>G ENST00000602787.1 + 5 743 c.327C>G c.(325-327)ctC>ctG p.L109L CORT_ENST00000320498.4_Silent_p.L100L|APITD1-CORT_ENST00000465026.1_3'UTR|CORT_ENST00000377049.3_Silent_p.L50L|APITD1-CORT_ENST00000470413.2_3'UTR|APITD1-CORT_ENST00000400900.2_Silent_p.L109L|APITD1_ENST00000602296.1_3'UTR NM_198544.3 NP_940946.1 apoptosis-inducing, TAF9-like domain 1 kidney(1)|lung(1)|ovary(1)|stomach(1) 4 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-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;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) TGACTTTCCTCGCTTGGTGGT 0.582000 13 13 0 0 1 0 0 ZSCAN29 146050 broad.mit.edu 37 15 43662015 43662015 + Missense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr15:43662015G>A ENST00000396976.2 - 1 231 c.97C>T c.(97-99)Cgg>Tgg p.R33W ZSCAN29_ENST00000568898.1_Missense_Mutation_p.R32W|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.R32W|TUBGCP4_ENST00000570081.1_Intron|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.R33W NM_152455.3 NP_689668.3 Q8IWY8 ZSC29_HUMAN zinc finger and SCAN domain containing 29 33 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2) 24 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;8.97e-07) AAAGCCTCCCGCGGCCCAGCC 0.532000 25 48 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139909368 139909368 + Missense_Mutation SNP G G T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr9:139909368G>T ENST00000265662.5 - 25 4026 c.3879C>A c.(3877-3879)ttC>ttA p.F1293L ABCA2_ENST00000341511.6_Missense_Mutation_p.F1293L|ABCA2_ENST00000371605.3_Missense_Mutation_p.F1292L Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1292 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CTCACACCTGGAAGAGGCGCT 0.697000 8 6 0.00307968 0.00310127 1 1 0 KRT40 125115 broad.mit.edu 37 17 39137378 39137378 + Missense_Mutation SNP A A C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr17:39137378A>C ENST00000377755.4 - 4 747 c.713T>G c.(712-714)cTt>cGt p.L238R KRT40_ENST00000398486.2_Missense_Mutation_p.L238R Q6A162 K1C40_HUMAN keratin 40 238 Linker 12.|Rod. intermediate filament structural molecule activity endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Breast(137;0.00043) GCGGTCGCCAAGCTGTTCACG 0.517000 37 104 0 0 1 0 0 TAOK2 9344 broad.mit.edu 37 16 29994070 29994070 + Missense_Mutation SNP C C T rs141012429 TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr16:29994070C>T ENST00000308893.4 + 11 1890 c.847C>T c.(847-849)Cgg>Tgg p.R283W TAOK2_ENST00000279394.3_Missense_Mutation_p.R283W|TAOK2_ENST00000543033.1_Missense_Mutation_p.R283W|TAOK2_ENST00000416441.2_Missense_Mutation_p.R110W NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 283 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CTTTGTGCTCCGGGAGCGGCC 0.622000 12 28 0 0 1 0 0 AVL9 23080 broad.mit.edu 37 7 32623485 32623485 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr7:32623485A>G ENST00000318709.4 + 16 2134 c.1913A>G c.(1912-1914)cAa>cGa p.Q638R AVL9_ENST00000404479.1_Intron|AVL9_ENST00000409301.1_Missense_Mutation_p.Q620R NM_015060.1 NP_055875.1 Q8NBF6 AVL9_HUMAN AVL9 homolog (S. cerevisiase) 638 integral to membrane endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 TCCACCTCCCAAAGTCTCACT 0.512000 21 25 0 0 1 0 0 CCDC97 90324 broad.mit.edu 37 19 41825748 41825748 + Missense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:41825748G>A ENST00000269967.3 + 3 894 c.772G>A c.(772-774)Gac>Aac p.D258N NM_052848.1 NP_443080.1 Q96F63 CCD97_HUMAN coiled-coil domain containing 97 258 biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6) 17 ggaggacagtgacgaggaagg 0.627000 5 17 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 159954194 159954194 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:159954194A>G ENST00000263635.6 + 4 344 c.107A>G c.(106-108)cAc>cGc p.H36R TANC1_ENST00000454300.1_Missense_Mutation_p.H36R NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 36 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 CACCTTGACCACAGTGCTGAC 0.488000 35 43 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36214052 36214052 + Missense_Mutation SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr4:36214052C>T ENST00000303965.4 - 5 1588 c.1099G>A c.(1099-1101)Gct>Act p.A367T NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 367 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 GTTGCAGTAGCTGCTTCCCCT 0.323000 18 17 0 0 1 0 0 EDA2R 60401 broad.mit.edu 37 X 65824289 65824289 + Missense_Mutation SNP T T A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chrX:65824289T>A ENST00000374719.3 - 4 382 c.326A>T c.(325-327)aAg>aTg p.K109M EDA2R_ENST00000450752.1_Missense_Mutation_p.K109M|EDA2R_ENST00000253392.5_Missense_Mutation_p.K109M|EDA2R_ENST00000396050.1_Missense_Mutation_p.K109M|EDA2R_ENST00000451436.2_Intron|EDA2R_ENST00000456230.2_Missense_Mutation_p.K109M NM_021783.3 NP_068555 Q9HAV5 TNR27_HUMAN ectodysplasin A2 receptor 109 cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane tumor necrosis factor receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 13 GGGGGTCTGCTTCGTGCACGG 0.512000 21 41 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20870110 20870110 + Silent SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr12:20870110C>T ENST00000381552.1 + 7 1089 c.721C>T c.(721-723)Ctg>Ttg p.L241L SLCO1C1_ENST00000266509.2_Silent_p.L241L|SLCO1C1_ENST00000540354.1_Silent_p.L192L|SLCO1C1_ENST00000545604.1_Silent_p.L241L|SLCO1C1_ENST00000545102.1_Silent_p.L123L Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 241 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) CTTTGGTTTCCTGTTAGGCTC 0.333000 34 32 0 0 1 0 0 TCEB3CL 728929 broad.mit.edu 37 18 44549232 44549232 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr18:44549232T>C ENST00000451265.1 - 1 1302 c.1067A>G c.(1066-1068)gAa>gGa p.E356G KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron NM_001100817.1 NP_001094287.1 transcription elongation factor B polypeptide 3C-like central_nervous_system(1)|lung(1)|prostate(1) 3 GGGGACCCCTTCCACGTCGCC 0.652000 14 436 0 0 1 0 0 ZNF492 57615 broad.mit.edu 37 19 22847050 22847050 + Silent SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:22847050A>G ENST00000456783.2 + 4 823 c.579A>G c.(577-579)ggA>ggG p.G193G NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 193 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) TTCATACTGGAAAGAAACCCT 0.368000 10 16 0 0 1 0 0 TFDP1 7027 broad.mit.edu 37 13 114287563 114287563 + Missense_Mutation SNP T T G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr13:114287563T>G ENST00000375370.5 + 6 649 c.437T>G c.(436-438)tTc>tGc p.F146C TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000538138.1_Missense_Mutation_p.F51C|TFDP1_ENST00000544902.1_Missense_Mutation_p.F51C NM_007111.4 NP_009042.1 Q14186 TFDP1_HUMAN transcription factor Dp-1 146 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) GTTGCGGAGTTCAGTGCTGCC 0.597000 TSP Lung(29;0.18) 19 25 0 0 1 0 0 SLC16A1 6566 broad.mit.edu 37 1 113456623 113456623 + Nonsense_Mutation SNP C C A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:113456623C>A ENST00000538576.1 - 5 2224 c.1393G>T c.(1393-1395)Gag>Tag p.E465* SLC16A1_ENST00000369626.3_Nonsense_Mutation_p.E465* NM_001166496.1 NP_001159968.1 P53985 MOT1_HUMAN solute carrier family 16 (monocarboxylate transporter), member 1 465 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1) 20 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) ATACTGGTCTCTTCCTCTTTA 0.438000 32 124 9.78306e-22 1.04888e-21 1 1 0 CENPJ 55835 broad.mit.edu 37 13 25480492 25480492 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr13:25480492C>G ENST00000381884.4 - 7 1869 c.1684G>C c.(1684-1686)Gag>Cag p.E562Q CENPJ_ENST00000545981.1_Missense_Mutation_p.E562Q NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 562 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) TCCCAAGTCTCTAACTTTTTC 0.408000 13 37 0 0 1 0 0 HIST1H2BA 255626 broad.mit.edu 37 6 25727230 25727230 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr6:25727230A>G ENST00000274764.2 + 1 94 c.94A>G c.(94-96)Aag>Gag p.K32E NM_170610.2 NP_733759.1 Q96A08 H2B1A_HUMAN histone cluster 1, H2ba 32 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|kidney(1) 2 CAAAAAGCGCAAGAGGACCCG 0.448000 40 49 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554413 140554413 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr5:140554413T>C ENST00000231137.3 + 1 2171 c.1997T>C c.(1996-1998)tTc>tCc p.F666S NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 666 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTGGACGGCTTCTCCCAGCCC 0.697000 18 83 0 0 1 0 0 ANKRD17 26057 broad.mit.edu 37 4 73957549 73957549 + Silent SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr4:73957549C>T ENST00000358602.4 - 29 5912 c.5796G>A c.(5794-5796)ttG>ttA p.L1932L ANKRD17_ENST00000509867.2_Silent_p.L1819L|ANKRD17_ENST00000330838.6_Silent_p.L1681L NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 1932 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGGCAGGGCTCAAAGGCCTGA 0.522000 21 28 0 0 1 0 0 NRF1 4899 broad.mit.edu 37 7 129348983 129348983 + Silent SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr7:129348983G>C ENST00000393232.1 + 6 792 c.675G>C c.(673-675)ggG>ggC p.G225G NRF1_ENST00000353868.4_Silent_p.G225G|NRF1_ENST00000311967.2_Silent_p.G225G|NRF1_ENST00000393231.3_Silent_p.G225G|NRF1_ENST00000539636.1_Silent_p.G64G|NRF1_ENST00000223190.4_Silent_p.G225G|NRF1_ENST00000393230.2_Silent_p.G225G NM_005011.3 NP_005002.3 Q16656 NRF1_HUMAN nuclear respiratory factor 1 225 generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 24 CAGGCTGGGGGAAAGAAAGCT 0.532000 75 155 0 0 1 0 0 SNTG1 54212 broad.mit.edu 37 8 51415380 51415380 + Missense_Mutation SNP G G T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr8:51415380G>T ENST00000522124.1 + 9 1067 c.406G>T c.(406-408)Gtg>Ttg p.V136L SNTG1_ENST00000276467.5_Missense_Mutation_p.V136L|SNTG1_ENST00000518864.1_Missense_Mutation_p.V136L|SNTG1_ENST00000517473.1_Missense_Mutation_p.V136L NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 136 PDZ. 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) GACTCTAACAGTGTCATTTTT 0.328000 13 48 2.31682e-05 2.36064e-05 1 1 0 KCNV1 27012 broad.mit.edu 37 8 110984995 110984995 + Silent SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr8:110984995C>G ENST00000524391.1 - 3 1515 c.483G>C c.(481-483)ctG>ctC p.L161L KCNV1_ENST00000297404.1_Silent_p.L161L Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 161 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) AAGTTTCACTCAGCTCTTTCC 0.388000 12 80 0 0 1 0 0 UROD 7389 broad.mit.edu 37 1 45478813 45478813 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:45478813A>G ENST00000246337.4 + 3 258 c.139A>G c.(139-141)Agg>Ggg p.R47G UROD_ENST00000494399.1_3'UTR NM_000374.4 NP_000365.3 P06132 DCUP_HUMAN uroporphyrinogen decarboxylase 47 cytosol|microtubule cytoskeleton|nucleus uroporphyrinogen decarboxylase activity endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 4 Acute lymphoblastic leukemia(166;0.155) TGCAGAGTTTAGGGAAACCCG 0.567000 Porphyria Cutanea Tarda, Type II 28 83 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40902557 40902557 + Missense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:40902557G>A ENST00000324001.7 - 7 1972 c.1702C>T c.(1702-1704)Cgg>Tgg p.R568W PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 568 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TCTGGAAGCCGCACCTCTGGC 0.557000 4 264 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123145808 123145808 + Silent SNP T T G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr4:123145808T>G ENST00000264501.4 + 23 3142 c.2769T>G c.(2767-2769)ctT>ctG p.L923L KIAA1109_ENST00000388738.3_Silent_p.L923L|KIAA1109_ENST00000455637.1_Silent_p.L923L|KIAA1109_ENST00000495260.1_3'UTR Q2LD37 K1109_HUMAN KIAA1109 923 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 CTGGAAGTCTTACAGCTAAGG 0.438000 11 18 0 0 1 0 0 DEPTOR 64798 broad.mit.edu 37 8 121013945 121013945 + Missense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr8:121013945G>A ENST00000286234.5 + 5 916 c.786G>A c.(784-786)atG>atA p.M262I DEPTOR_ENST00000518057.1_3'UTR|DEPTOR_ENST00000523492.1_Missense_Mutation_p.M161I NM_022783.2 NP_073620.2 Q8TB45 DPTOR_HUMAN DEP domain containing MTOR-interacting protein 262 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 CCAGCTTTATGTCAGGTATGC 0.463000 12 26 0 0 1 0 0 UBE4B 10277 broad.mit.edu 37 1 10179641 10179641 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:10179641T>C ENST00000377157.3 + 8 1735 c.674T>C c.(673-675)tTa>tCa p.L225S UBE4B_ENST00000475795.1_3'UTR|UBE4B_ENST00000253251.8_Missense_Mutation_p.L341S|UBE4B_ENST00000343090.6_Missense_Mutation_p.L470S NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 470 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) CATACTGCTTTAGTACTACAA 0.537000 29 85 0 0 1 0 0 C16orf71 146562 broad.mit.edu 37 16 4790260 4790260 + Missense_Mutation SNP A A T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr16:4790260A>T ENST00000299320.5 + 4 861 c.383A>T c.(382-384)gAa>gTa p.E128V C16orf71_ENST00000590191.1_Missense_Mutation_p.E142V|RP11-127I20.7_ENST00000588099.1_RNA NM_139170.2 NP_631909.2 Q8IYS4 CP071_HUMAN chromosome 16 open reading frame 71 128 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1) 11 AGGCCTTTTGAAAGCTCTGGT 0.572000 28 45 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56374502 56374502 + Missense_Mutation SNP T T G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr6:56374502T>G ENST00000370754.5 - 74 18856 c.18857A>C c.(18856-18858)aAa>aCa p.K6286T DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.K3694T|DST_ENST00000370769.4_Missense_Mutation_p.K6108T|DST_ENST00000361203.3_Missense_Mutation_p.K5997T|DST_ENST00000370788.2_Missense_Mutation_p.K3911T|DST_ENST00000446842.2_Missense_Mutation_p.K5782T|DST_ENST00000421834.2_Missense_Mutation_p.K4020T|DST_ENST00000340834.4_5'UTR Q03001 DYST_HUMAN dystonin 6106 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCCCCTCTGTTTAAGAGTTTC 0.388000 25 45 0 0 1 0 0 BUB1 699 broad.mit.edu 37 2 111398707 111398707 + Missense_Mutation SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:111398707C>T ENST00000535254.1 - 22 2866 c.2799G>A c.(2797-2799)atG>atA p.M933I BUB1_ENST00000302759.6_Missense_Mutation_p.M953I|BUB1_ENST00000409311.1_Missense_Mutation_p.M896I NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 953 Protein kinase. apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) GAAAAAGTTTCATATCTATAC 0.383000 17 43 0 0 1 0 0 ATG2A 23130 broad.mit.edu 37 11 64681381 64681381 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr11:64681381T>C ENST00000421419.2 - 4 616 c.502A>G c.(502-504)Aaa>Gaa p.K168E ATG2A_ENST00000377264.3_Missense_Mutation_p.K168E Q2TAZ0 ATG2A_HUMAN autophagy related 2A 168 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 AAGGTCACTTTGATCCTCCGA 0.622000 5 12 0 0 1 0 0 PIGR 5284 broad.mit.edu 37 1 207111051 207111051 + Missense_Mutation SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:207111051C>T ENST00000356495.4 - 4 617 c.434G>A c.(433-435)gGc>gAc p.G145D NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 145 Ig-like V-type 2. 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 CACCGTTCTGCCCAGGTCCAC 0.512000 8 13 0 0 1 0 0 ESD 2098 broad.mit.edu 37 13 47355699 47355699 + Missense_Mutation SNP T T C rs146164024 TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr13:47355699T>C ENST00000378720.3 - 7 615 c.433A>G c.(433-435)Att>Gtt p.I145V ESD_ENST00000495654.1_5'UTR|ESD_ENST00000378697.1_Missense_Mutation_p.I116V NM_001984.1 NP_001975.1 P10768 ESTD_HUMAN esterase D 145 cytoplasmic membrane-bounded vesicle carboxylesterase activity|S-formylglutathione hydrolase activity endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1) 9 all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) GBM - Glioblastoma multiforme(144;2.66e-05) Glutathione(DB00143) TGGCCAAAAATAGACATCCTT 0.348000 41 29 0 0 1 0 0 TBCC 6903 broad.mit.edu 37 6 42713733 42713733 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr6:42713733C>G ENST00000244625.2 - 2 642 c.79G>C c.(79-81)Gag>Cag p.E27Q TBCC_ENST00000372876.1_Missense_Mutation_p.E27Q Q15814 TBCC_HUMAN tubulin folding cofactor C 27 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|photoreceptor connecting cilium chaperone binding|GTPase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3) 14 Colorectal(47;0.196) all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125) TGAAGCCGCTCAGGCACCAGG 0.562000 40 43 0 0 1 0 0 CRB2 286204 broad.mit.edu 37 9 126136070 126136070 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr9:126136070A>G ENST00000373631.3 + 10 3261 c.3260A>G c.(3259-3261)gAa>gGa p.E1087G CRB2_ENST00000373629.2_Missense_Mutation_p.E755G|CRB2_ENST00000359999.3_Missense_Mutation_p.E1087G NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 1087 EGF-like 12. extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 CCGGGGTGGGAAGGCCCGCGC 0.756000 4 8 0 0 1 0 0 PDIA4 9601 broad.mit.edu 37 7 148701040 148701040 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr7:148701040T>C ENST00000286091.4 - 10 2016 c.1784A>G c.(1783-1785)tAt>tGt p.Y595C NM_004911.4 NP_004902.1 P13667 PDIA4_HUMAN protein disulfide isomerase family A, member 4 595 Thioredoxin 3. 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) CTCCACCTTATAGCGGTCGCT 0.567000 6 24 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115380420 115380420 + Silent SNP G G C rs149084999 TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr10:115380420G>C ENST00000369358.4 - 25 3085 c.2841C>G c.(2839-2841)gtC>gtG p.V947V NRAP_ENST00000369360.3_Silent_p.V912V|NRAP_ENST00000359988.3_Silent_p.V939V|NRAP_ENST00000360478.3_Silent_p.V904V Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 939 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) ACCCGGTGGCGACCCAGCCCA 0.498000 26 51 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56204574 56204574 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr18:56204574C>G ENST00000361673.3 - 5 3058 c.2845G>C c.(2845-2847)Gag>Cag p.E949Q RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 949 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 GGATTGTTCTCAGAAGAAAGG 0.517000 14 27 0 0 1 0 0 TGM3 7053 broad.mit.edu 37 20 2290830 2290830 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr20:2290830A>G ENST00000381458.5 + 3 251 c.188A>G c.(187-189)tAc>tGc p.Y63C NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 63 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) ACAGGGCCTTACCCCTCAGAG 0.547000 33 90 0 0 1 0 0 GYG2 8908 broad.mit.edu 37 X 2793878 2793878 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chrX:2793878C>G ENST00000381163.3 + 10 1441 c.1159C>G c.(1159-1161)Cct>Gct p.P387A GYG2_ENST00000338623.5_Missense_Mutation_p.P387A|GYG2_ENST00000542787.1_Intron|GYG2_ENST00000381161.1_Intron|GYG2_ENST00000398806.3_Missense_Mutation_p.P356A NM_001079855.1|NM_001184702.1|NM_003918.2 NP_001073324.1|NP_001171631.1|NP_003909.2 O15488 GLYG2_HUMAN glycogenin 2 387 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|soluble fraction glycogenin glucosyltransferase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1) 13 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) AACTGAGACTCCTGCCGTGAT 0.428000 6 14 0 0 1 0 0 IRX1 79192 broad.mit.edu 37 5 3600248 3600248 + Missense_Mutation SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr5:3600248G>C ENST00000302006.3 + 2 1238 c.1186G>C c.(1186-1188)Gct>Cct p.A396P CTD-2012M11.3_ENST00000559410.1_RNA NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 396 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 GGGCGTTGGCGCTCCCCACGC 0.657000 8 12 0 0 1 0 0 FKBP9 11328 broad.mit.edu 37 7 33028194 33028194 + Silent SNP T T A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr7:33028194T>A ENST00000242209.4 + 6 1138 c.969T>A c.(967-969)ctT>ctA p.L323L FKBP9_ENST00000490776.2_Silent_p.L91L|FKBP9_ENST00000538336.1_Silent_p.L376L|FKBP9_ENST00000489038.1_3'UTR|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Silent_p.L185L NM_001284343.1|NM_007270.3 NP_001271272.1|NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa 323 PPIase FKBP-type 3. protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) AAGGTCTACTTGGTGTTTGCA 0.512000 12 59 0 0 1 0 0 CSTF3 1479 broad.mit.edu 37 11 33117864 33117864 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr11:33117864A>G ENST00000323959.4 - 15 1502 c.1363T>C c.(1363-1365)Tct>Cct p.S455P TCP11L1_ENST00000324357.9_Intron NM_001326.2 NP_001317.1 Q12996 CSTF3_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa 455 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 TTGAGGTGAGAAAGATAGTCA 0.333000 20 26 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11152036 11152036 + Missense_Mutation SNP A A T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:11152036A>T ENST00000358026.2 + 31 4604 c.4320A>T c.(4318-4320)aaA>aaT p.K1440N SMARCA4_ENST00000413806.3_Missense_Mutation_p.K1378N|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000344626.4_Missense_Mutation_p.K1408N|SMARCA4_ENST00000590574.1_Missense_Mutation_p.K1375N|SMARCA4_ENST00000450717.3_Missense_Mutation_p.K1378N|SMARCA4_ENST00000589677.1_Missense_Mutation_p.K1378N|SMARCA4_ENST00000541122.2_Missense_Mutation_p.K1378N|SMARCA4_ENST00000444061.3_Missense_Mutation_p.K1375N|SMARCA4_ENST00000429416.3_Missense_Mutation_p.K1408N NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1408 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) GGCAGAAGAAATCATCACGGA 0.602000 """F, N, Mis""" NSCLC 4 48 0 0 1 0 0 PTPRU 10076 broad.mit.edu 37 1 29639158 29639158 + Missense_Mutation SNP T T A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:29639158T>A ENST00000323874.8 + 23 3295 c.3185T>A c.(3184-3186)tTc>tAc p.F1062Y PTPRU_ENST00000373779.3_Missense_Mutation_p.F1056Y|PTPRU_ENST00000345512.3_Missense_Mutation_p.F1066Y|PTPRU_ENST00000428026.2_Missense_Mutation_p.F1053Y|PTPRU_ENST00000356870.3_Missense_Mutation_p.F1062Y|PTPRU_ENST00000460170.2_Missense_Mutation_p.F1062Y|PTPRU_ENST00000415600.2_3'UTR Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 1066 Tyrosine-protein phosphatase 1. 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) CTGCTGGCTTTCATCCGGCGC 0.662000 8 10 0 0 1 0 0 PPIF 10105 broad.mit.edu 37 10 81113542 81113542 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr10:81113542A>G ENST00000225174.3 + 6 639 c.568A>G c.(568-570)Aag>Gag p.K190E PPIF_ENST00000394579.3_3'UTR NM_005729.3 NP_005720.1 P30405 PPIF_HUMAN peptidylprolyl isomerase F 190 PPIase cyclophilin-type. protein folding membrane fraction|mitochondrial matrix peptidyl-prolyl cis-trans isomerase activity endometrium(2)|lung(2)|skin(2) 6 all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985) Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229) Dimethyl sulfoxide(DB01093)|L-Proline(DB00172) TTTCGGCTCTAAGAGTGGGAG 0.527000 19 32 0 0 1 0 0 C6orf195 154386 broad.mit.edu 37 6 2623977 2623977 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr6:2623977T>C ENST00000296847.3 - 3 603 c.80A>G c.(79-81)gAa>gGa p.E27G NM_152554.2 NP_689767.2 Q96MT4 CF195_HUMAN chromosome 6 open reading frame 195 27 cervix(1)|endometrium(1)|lung(2)|skin(1) 5 Ovarian(93;0.0412) all_hematologic(90;0.0895) AAATGCCCTTTCTCCCTCGGG 0.572000 25 23 0 0 1 0 0 GPNMB 10457 broad.mit.edu 37 7 23313188 23313188 + Missense_Mutation SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr7:23313188G>C ENST00000258733.4 + 10 1773 c.1478G>C c.(1477-1479)gGc>gCc p.G493A GPNMB_ENST00000539136.1_Missense_Mutation_p.G394A|GPNMB_ENST00000478451.1_3'UTR|GPNMB_ENST00000453162.2_Missense_Mutation_p.G447A|GPNMB_ENST00000381990.2_Missense_Mutation_p.G505A Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb 505 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) ATCTCCGTTGGCTGCTTGGCC 0.433000 60 52 0 0 1 0 0 NLK 51701 broad.mit.edu 37 17 26459652 26459652 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr17:26459652T>C ENST00000407008.3 + 3 1313 c.595T>C c.(595-597)Tct>Cct p.S199P NM_016231.4 NP_057315.3 Q9UBE8 NLK_HUMAN nemo-like kinase 199 Protein kinase. intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1) 14 all_lung(13;0.000343)|Lung NSC(42;0.00184) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) TCAGGTACTCTCTGCCCTTGA 0.318000 5 7 0 0 1 0 0 SLC27A5 10998 broad.mit.edu 37 19 59010948 59010948 + Silent SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:59010948C>G ENST00000263093.2 - 7 1687 c.1578G>C c.(1576-1578)tcG>tcC p.S526S SLC27A5_ENST00000601355.1_Silent_p.S442S NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 526 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 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) AAACGTCGCCCGATTGCCGCA 0.657000 21 167 0 0 1 0 0 SLC17A8 246213 broad.mit.edu 37 12 100774578 100774578 + Silent SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr12:100774578C>T ENST00000323346.5 + 2 514 c.201C>T c.(199-201)tgC>tgT p.C67C SLC17A8_ENST00000392989.3_Silent_p.C67C NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 67 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 TCTGCGACTGCCACTGCTGCG 0.532000 26 82 0 0 1 0 0 CENPL 91687 broad.mit.edu 37 1 173772368 173772368 + Silent SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:173772368A>G ENST00000356198.2 - 6 1119 c.834T>C c.(832-834)caT>caC p.H278H CENPL_ENST00000367710.3_Silent_p.H232H|CENPL_ENST00000345664.6_Silent_p.H232H NM_001127181.2 NP_001120653.1 Q8N0S6 CENPL_HUMAN centromere protein L 232 mitotic prometaphase chromosome, centromeric region|cytosol|nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3) 11 TAGCCACATAATGGTCCATTT 0.423000 20 42 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48389453 48389453 + Missense_Mutation SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr10:48389453G>C ENST00000224600.4 - 1 1538 c.1425C>G c.(1423-1425)atC>atG p.I475M NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 475 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) GCAGGTCCATGATGAGGTGCT 0.642000 10 28 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124270481 124270481 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr12:124270481C>G ENST00000409039.3 + 9 1261 c.1236C>G c.(1234-1236)ttC>ttG p.F412L NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 412 Stem (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) GGACTTTGTTCAAGTAAGAAG 0.408000 10 28 0 0 1 0 0 TAC3 6866 broad.mit.edu 37 12 57406214 57406214 + Missense_Mutation SNP T T G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr12:57406214T>G ENST00000458521.2 - 6 474 c.315A>C c.(313-315)caA>caC p.Q105H TAC3_ENST00000441881.1_Missense_Mutation_p.Q87H|TAC3_ENST00000415231.1_Missense_Mutation_p.Q105H NM_013251.3 NP_037383.1 Q9UHF0 TKNK_HUMAN tachykinin 3 105 female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway extracellular space|soluble fraction receptor binding cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 GGACGTTCTCTTGATTCACAT 0.512000 3 20 0 0 1 0 0 MFSD2B 388931 broad.mit.edu 37 2 24244560 24244560 + Missense_Mutation SNP T T A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:24244560T>A ENST00000338315.4 + 7 724 c.724T>A c.(724-726)Tac>Aac p.Y242N MFSD2B_ENST00000406420.3_Missense_Mutation_p.Y242N A6NFX1 MFS2B_HUMAN major facilitator superfamily domain containing 2B 242 transport integral to membrane cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 10 TGTAGTGACTTACCCCGTGTG 0.592000 4 24 0 0 1 0 0 PSME4 23198 broad.mit.edu 37 2 54167126 54167126 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:54167126T>C ENST00000404125.1 - 4 567 c.512A>G c.(511-513)aAt>aGt p.N171S PSME4_ENST00000421748.2_Intron NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 171 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TTTGAGAATATTTTCTACAGA 0.348000 41 122 0 0 1 0 0 RHOA 387 broad.mit.edu 37 3 49405912 49405912 + Missense_Mutation SNP C C A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:49405912C>A ENST00000418115.1 - 3 610 c.226G>T c.(226-228)Gat>Tat p.D76Y RHOA_ENST00000454011.2_Intron|RHOA_ENST00000422781.1_Missense_Mutation_p.D76Y NM_001664.2 NP_001655.1 P61586 RHOA_HUMAN ras homolog family member A 76 axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding p.D76N(1) cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) ACATCGGTATCTGGGTAGGAG 0.493000 48 56 8.00217e-19 8.51589e-19 1 1 0 MAN1A2 10905 broad.mit.edu 37 1 117944854 117944854 + Nonsense_Mutation SNP A A T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:117944854A>T ENST00000356554.3 + 2 1084 c.349A>T c.(349-351)Aag>Tag p.K117* MAN1A2_ENST00000482811.1_Intron NM_006699.3 NP_006690.1 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 117 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 27 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) TGATCATGAGAAGGCCTTGGA 0.363000 22 61 0 0 1 0 0 PMEPA1 56937 broad.mit.edu 37 20 56227370 56227370 + Missense_Mutation SNP C C A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr20:56227370C>A ENST00000341744.3 - 4 922 c.603G>T c.(601-603)agG>agT p.R201S PMEPA1_ENST00000265626.4_Missense_Mutation_p.R151S|PMEPA1_ENST00000395816.3_Missense_Mutation_p.R151S|PMEPA1_ENST00000347215.4_Missense_Mutation_p.R166S|PMEPA1_ENST00000395814.1_Missense_Mutation_p.R151S NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 201 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 GGCCGCCCAGCCTGGCACTAT 0.687000 12 41 7.03913e-09 7.27545e-09 1 1 0 EIF3D 8664 broad.mit.edu 37 22 36913461 36913461 + Nonsense_Mutation SNP C C A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr22:36913461C>A ENST00000216190.8 - 10 1247 c.877G>T c.(877-879)Gag>Tag p.E293* EIF3D_ENST00000405442.1_Nonsense_Mutation_p.E293*|EIF3D_ENST00000541106.1_Nonsense_Mutation_p.E244* NM_003753.3 NP_003744.1 O15371 EIF3D_HUMAN eukaryotic translation initiation factor 3, subunit D 293 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 15 TTGGCAGTCTCACTCACTGTC 0.532000 11 15 9.31168e-06 9.51027e-06 1 1 0 NLRC5 84166 broad.mit.edu 37 16 57113485 57113485 + Missense_Mutation SNP G G T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr16:57113485G>T ENST00000262510.6 + 46 5490 c.5265G>T c.(5263-5265)caG>caT p.Q1755H NLRC5_ENST00000308149.7_Missense_Mutation_p.Q1726H|NLRC5_ENST00000539144.1_Missense_Mutation_p.Q1726H|NLRC5_ENST00000436936.1_3'UTR NM_032206.4 NP_115582.4 Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1755 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) TTGACAACCAGACTGCCAAGC 0.557000 27 59 6.32553e-13 6.68212e-13 1 1 0 TPRN 286262 broad.mit.edu 37 9 140087130 140087130 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr9:140087130A>G ENST00000409012.4 - 2 1825 c.1739T>C c.(1738-1740)tTc>tCc p.F580S TPRN_ENST00000541945.1_5'UTR|TPRN_ENST00000321773.2_Missense_Mutation_p.F519S NM_001128228.2 NP_001121700.2 Q4KMQ1 TPRN_HUMAN taperin 580 sensory perception of sound stereocilium breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 8 TTTGTCGTTGAAGGAGATCTT 0.587000 17 37 0 0 1 0 0 TEX10 54881 broad.mit.edu 37 9 103090114 103090114 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr9:103090114T>C ENST00000374902.4 - 8 1932 c.1756A>G c.(1756-1758)Aaa>Gaa p.K586E TEX10_ENST00000535814.1_Missense_Mutation_p.K589E NM_017746.3 NP_060216.2 Q9NXF1 TEX10_HUMAN testis expressed 10 586 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) AGTAATTCTTTATTTGCTCGT 0.418000 29 61 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108137961 108137961 + Missense_Mutation SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr11:108137961G>C ENST00000278616.4 + 17 2915 c.2530G>C c.(2530-2532)Gga>Cga p.G844R ATM_ENST00000452508.2_Missense_Mutation_p.G844R NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 844 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) TGATACTAATGGAAATCTAAT 0.403000 """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) 14 20 0 0 1 0 0 MAP4K5 11183 broad.mit.edu 37 14 50907139 50907139 + Missense_Mutation SNP T T G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr14:50907139T>G ENST00000013125.4 - 22 1903 c.1585A>C c.(1585-1587)Act>Cct p.T529P NM_006575.4|NM_198794.2 NP_006566.2|NP_942089.1 Q9Y4K4 M4K5_HUMAN mitogen-activated protein kinase kinase kinase kinase 5 529 CNH. activation of JUN kinase activity cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_epithelial(31;0.000415)|Breast(41;0.0102) CCATCTTCAGTTCCAAAAATA 0.289000 4 5 0 0 1 0 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89082382 89082382 + RNA SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:89082382G>A ENST00000393525.3 + 0 516 TGCAAGTGACGAGAAAGATTC 0.338000 12 44 0 0 1 0 0 TRIM39 56658 broad.mit.edu 37 6 30309568 30309568 + Missense_Mutation SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr6:30309568G>C ENST00000376659.5 + 8 1597 c.999G>C c.(997-999)gaG>gaC p.E333D TRIM39_ENST00000396551.3_Missense_Mutation_p.E333D|TRIM39_ENST00000376656.4_Missense_Mutation_p.E363D|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.E245D|TRIM39_ENST00000540416.1_Missense_Mutation_p.E333D|TRIM39_ENST00000396547.1_Missense_Mutation_p.E363D|TRIM39_ENST00000396548.1_Missense_Mutation_p.E333D NM_172016.2 NP_742013.1 tripartite motif containing 39 ovary(3) 3 AGTTCGTGGAGACAAGACTCC 0.572000 8 36 0 0 1 0 0 DOT1L 84444 broad.mit.edu 37 19 2226955 2226955 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:2226955A>G ENST00000398665.3 + 27 4471 c.4435A>G c.(4435-4437)Atg>Gtg p.M1479V NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 1479 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 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) GCTCGGCCCCATGTCCCTGCA 0.756000 4 14 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33154397 33154397 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr6:33154397C>G ENST00000395194.1 - 5 1018 c.805G>C c.(805-807)Gag>Cag p.E269Q COL11A2_ENST00000374712.1_Intron|COL11A2_ENST00000374714.1_Intron|COL11A2_ENST00000395197.1_Intron|COL11A2_ENST00000374713.1_Intron|COL11A2_ENST00000357486.1_Intron|COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000341947.2_Intron|COL11A2_ENST00000374708.4_Intron NM_001163771.1 NP_001157243.1 P13942 COBA2_HUMAN collagen, type XI, alpha 2 269 Nonhelical region. 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 TCTCCCAGCTCCCTCACCTGG 0.572000 20 83 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37431011 37431011 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr10:37431011A>G ENST00000374660.1 + 7 1117 c.1018A>G c.(1018-1020)Atg>Gtg p.M340V ANKRD30A_ENST00000361713.1_Missense_Mutation_p.M340V|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.M340V Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 396 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 TAGGGAAATTATGAGTCCCGC 0.433000 35 136 0 0 1 0 0 BCL2L13 23786 broad.mit.edu 37 22 18209913 18209913 + Silent SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr22:18209913A>G ENST00000317582.5 + 7 1418 c.1071A>G c.(1069-1071)acA>acG p.T357T BCL2L13_ENST00000485631.1_3'UTR|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000355028.3_3'UTR|BCL2L13_ENST00000538149.1_Silent_p.T233T|BCL2L13_ENST00000337612.5_Silent_p.T195T|BCL2L13_ENST00000543133.1_Silent_p.T195T NM_015367.3 NP_056182.2 Q9BXK5 B2L13_HUMAN BCL2-like 13 (apoptosis facilitator) 357 Glu-rich. induction of apoptosis integral to membrane|mitochondrial membrane|nucleus caspase activator activity breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2) 15 all_epithelial(15;0.123) Lung(27;0.199) TGCTGGGGACAAGGGAACCTG 0.532000 14 47 0 0 1 0 0 RFC2 5982 broad.mit.edu 37 7 73646462 73646462 + Nonsense_Mutation SNP T T A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr7:73646462T>A ENST00000055077.3 - 11 1099 c.1039A>T c.(1039-1041)Aag>Tag p.K347* RFC2_ENST00000352131.3_Nonsense_Mutation_p.K313* NM_181471.1 NP_852136.1 P35250 RFC2_HUMAN replication factor C (activator 1) 2, 40kDa 347 cell cycle checkpoint|DNA strand elongation involved in DNA replication|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 DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3) 8 GCCATTGTCTTCTGACACAGC 0.507000 38 66 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179451515 179451515 + Missense_Mutation SNP C C A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:179451515C>A ENST00000589042.1 - 308 64337 c.64113G>T c.(64111-64113)agG>agT p.R21371S TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12431S|TTN_ENST00000460472.2_Missense_Mutation_p.R12306S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18803S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R12498S|TTN_ENST00000591111.1_Missense_Mutation_p.R19730S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19730 Ig-like 113. 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) CTTCTAATTTCCTTGGGGGAT 0.408000 23 34 5.45024e-15 5.78585e-15 1 1 0 ESPL1 9700 broad.mit.edu 37 12 53663771 53663771 + Nonsense_Mutation SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr12:53663771C>T ENST00000257934.4 + 3 1136 c.1045C>T c.(1045-1047)Cga>Tga p.R349* ESPL1_ENST00000552462.1_Nonsense_Mutation_p.R349* NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 349 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 AGGCCTGGAACGAGGCACCAA 0.537000 19 42 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32828145 32828145 + Missense_Mutation SNP T T A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:32828145T>A ENST00000421745.2 + 71 14199 c.14065T>A c.(14065-14067)Ttg>Atg p.L4689M NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 4689 Ubiquitin-conjugating. anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding 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) CTCAAGCTTTTTGCAAGTAAA 0.323000 17 35 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189608585 189608585 + Missense_Mutation SNP G G T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:189608585G>T ENST00000264731.3 + 13 1749 c.1660G>T c.(1660-1662)Gcg>Tcg p.A554S TP63_ENST00000354600.5_Missense_Mutation_p.A460S|TP63_ENST00000392460.3_Intron|TP63_ENST00000382063.4_Missense_Mutation_p.A469S|TP63_ENST00000440651.2_Missense_Mutation_p.A550S|TP63_ENST00000449992.1_Missense_Mutation_p.A375S|TP63_ENST00000320472.5_Intron|TP63_ENST00000392461.3_Intron|TP63_ENST00000456148.1_Missense_Mutation_p.A456S|TP63_ENST00000392463.2_Intron NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 554 SAM. anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CAGTTTCTTAGCGAGGTTGGG 0.453000 HNSCC(45;0.13) 22 39 3.62473e-10 3.77357e-10 1 1 0 GTF3C1 2975 broad.mit.edu 37 16 27518206 27518206 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr16:27518206C>G ENST00000356183.4 - 9 1529 c.1514G>C c.(1513-1515)cGg>cCg p.R505P GTF3C1_ENST00000561623.1_Missense_Mutation_p.R505P NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 505 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 GGTCTTGGGCCGGAGGTTTGC 0.622000 6 12 0 0 1 0 0 SUZ12 23512 broad.mit.edu 37 17 30321706 30321706 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr17:30321706A>G ENST00000322652.5 + 13 1790 c.1561A>G c.(1561-1563)Aag>Gag p.K521E SUZ12_ENST00000580398.1_Missense_Mutation_p.K498E NM_015355.2 NP_056170.2 Q15022 SUZ12_HUMAN SUZ12 polycomb repressive complex 2 subunit 521 negative regulation of cell differentiation|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|methylated histone residue binding|zinc ion binding SSH2/SUZ12(2)|JAZF1/SUZ12(133) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1) 21 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231) CGGACCAGTTAAGAGAACACC 0.398000 T JAZF1 endometrial stromal tumours 45 54 0 0 1 0 0 ATL1 51062 broad.mit.edu 37 14 51080022 51080022 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr14:51080022T>C ENST00000441560.2 + 8 1157 c.676T>C c.(676-678)Tca>Cca p.S226P ATL1_ENST00000357032.3_Missense_Mutation_p.S226P|ATL1_ENST00000354525.4_Missense_Mutation_p.S226P|ATL1_ENST00000358385.6_Missense_Mutation_p.S226P NM_001127713.1 NP_001121185.1 Q8WXF7 ATLA1_HUMAN atlastin GTPase 1 226 axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome GTP binding|GTPase activity|identical protein binding central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3) 18 ATACGAATTTTCATATGGAGC 0.363000 35 58 0 0 1 0 0 SLC22A12 116085 broad.mit.edu 37 11 64366378 64366378 + Silent SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr11:64366378T>C ENST00000377574.1 + 6 1800 c.1053T>C c.(1051-1053)tgT>tgC p.C351C SLC22A12_ENST00000336464.7_Silent_p.C317C|SLC22A12_ENST00000377572.1_Silent_p.C243C|SLC22A12_ENST00000473690.1_Silent_p.C130C|SLC22A12_ENST00000377567.2_Silent_p.C243C NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 351 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 TCCGGACCTGTATCTCCACGT 0.667000 6 13 0 0 1 0 0 LRAT 9227 broad.mit.edu 37 4 155670140 155670140 + Missense_Mutation SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr4:155670140G>C ENST00000336356.3 + 3 798 c.545G>C c.(544-546)tGt>tCt p.C182S LRAT_ENST00000507827.1_Missense_Mutation_p.C182S NM_004744.3 NP_004735.2 O95237 LRAT_HUMAN lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) 182 response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum phosphatidylcholine-retinol O-acyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9) 16 all_hematologic(180;0.215) Renal(120;0.0458) Vitamin A(DB00162) TTCCAGTTTTGTGAGACTGTG 0.373000 17 47 0 0 1 0 0 RBPJL 11317 broad.mit.edu 37 20 43945386 43945386 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr20:43945386C>G ENST00000372741.3 + 12 1423 c.1351C>G c.(1351-1353)Ctg>Gtg p.L451V RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372743.1_Silent_p.R446R|RBPJL_ENST00000343694.3_Silent_p.R447R Q9UBG7 RBPJL_HUMAN recombination signal binding protein for immunoglobulin kappa J region-like 0 IPT/TIG. signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Myeloproliferative disorder(115;0.0122) GCGACTGGCGCTGGCTGCGCG 0.692000 6 20 0 0 1 0 0 MAN2B2 23324 broad.mit.edu 37 4 6578377 6578377 + Missense_Mutation SNP C C G rs138166132 TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr4:6578377C>G ENST00000285599.3 + 2 247 c.211C>G c.(211-213)Cgg>Ggg p.R71G MAN2B2_ENST00000504248.1_Missense_Mutation_p.R71G NM_015274.1 NP_056089.1 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 71 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 CCAGCAGCGCCGGTTCATCGC 0.622000 27 46 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144912277 144912277 + Silent SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:144912277C>T ENST00000529945.1 - 11 2926 c.2487G>A c.(2485-2487)ttG>ttA p.L829L PDE4DIP_ENST00000369349.3_Silent_p.L666L|PDE4DIP_ENST00000479408.2_Silent_p.L453L|PDE4DIP_ENST00000530740.1_Silent_p.L803L|PDE4DIP_ENST00000313431.9_Silent_p.L829L|PDE4DIP_ENST00000369354.3_Silent_p.L666L|PDE4DIP_ENST00000369356.4_Silent_p.L666L|PDE4DIP_ENST00000369351.3_Silent_p.L666L|PDE4DIP_ENST00000313382.9_Silent_p.L732L|PDE4DIP_ENST00000369359.4_Silent_p.L803L Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 666 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding 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) AGGCTTGCACCAACTTCTCTG 0.388000 T PDGFRB MPD 9 63 0 0 1 0 0 CMIP 80790 broad.mit.edu 37 16 81725418 81725418 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr16:81725418T>C ENST00000537098.3 + 11 1499 c.1427T>C c.(1426-1428)tTg>tCg p.L476S CMIP_ENST00000539778.2_Missense_Mutation_p.L382S|CMIP_ENST00000398040.4_Missense_Mutation_p.L323S|CMIP_ENST00000566513.1_3'UTR NM_198390.2 NP_938204.2 Q8IY22 CMIP_HUMAN c-Maf inducing protein 442 cytoplasm|nucleus endometrium(5)|kidney(1)|lung(7) 13 CTGGCCAGTTTGCTTCAACCC 0.522000 8 12 0 0 1 0 0 KIAA1009 22832 broad.mit.edu 37 6 84930886 84930886 + Missense_Mutation SNP A A C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr6:84930886A>C ENST00000403245.3 - 3 175 c.61T>G c.(61-63)Tca>Gca p.S21A KIAA1009_ENST00000257766.4_5'UTR NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 21 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) GAATCATCTGAAAGCTGAATT 0.308000 31 12 0 0 1 0 0 GPR12 2835 broad.mit.edu 37 13 27333761 27333761 + Silent SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr13:27333761G>A ENST00000405846.3 - 2 425 c.204C>T c.(202-204)atC>atT p.I68I GPR12_ENST00000381436.2_Silent_p.I68I NM_005288.3 NP_005279.1 P47775 GPR12_HUMAN G protein-coupled receptor 12 68 integral to plasma membrane endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(5;5.77e-05) Breast(139;0.198) Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184) TGTGGAAGATGATAAGGACCA 0.547000 25 39 0 0 1 0 0 STRN3 29966 broad.mit.edu 37 14 31364787 31364787 + Splice_Site SNP C C A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr14:31364787C>A ENST00000355683.5 - 16 2188 c.e16-1 STRN3_ENST00000357479.5_Splice_Site NM_014574.3 NP_055389.3 Q13033 STRN3_HUMAN striatin, calmodulin binding protein 3 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) CAGTCATGGCCTGTAAAAGAA 0.328000 18 29 2.35188e-11 2.47234e-11 1 1 0 ZNRF4 148066 broad.mit.edu 37 19 5455685 5455685 + Missense_Mutation SNP C C A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:5455685C>A ENST00000222033.4 + 1 260 c.183C>A c.(181-183)agC>agA p.S61R NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 61 integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) TGGGACCTAGCAGCACACAGA 0.667000 15 38 1.5739e-10 1.64249e-10 1 1 0 ZNF492 57615 broad.mit.edu 37 19 22847052 22847052 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:22847052A>G ENST00000456783.2 + 4 825 c.581A>G c.(580-582)aAg>aGg p.K194R NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 194 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) CATACTGGAAAGAAACCCTAC 0.373000 10 16 0 0 1 0 0 C3orf30 152405 broad.mit.edu 37 3 118865235 118865235 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:118865235A>G ENST00000295622.1 + 1 239 c.199A>G c.(199-201)Ata>Gta p.I67V NM_152539.2 NP_689752.2 Q96M34 CC030_HUMAN chromosome 3 open reading frame 30 67 NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(114;0.222) TGAATCCAGCATATTTAGCCA 0.527000 14 13 0 0 1 0 0 MTA2 9219 broad.mit.edu 37 11 62362073 62362073 + Missense_Mutation SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr11:62362073C>T ENST00000278823.2 - 16 1996 c.1607G>A c.(1606-1608)cGg>cAg p.R536Q MTA2_ENST00000527204.1_Missense_Mutation_p.R363Q|MTA2_ENST00000524902.1_Missense_Mutation_p.R363Q NM_004739.3 NP_004730.2 O94776 MTA2_HUMAN metastasis associated 1 family, member 2 536 chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 26 CTTGGTACCCCGAGGTGTTTT 0.512000 20 46 0 0 1 0 0 HRASLS5 117245 broad.mit.edu 37 11 63233640 63233640 + Missense_Mutation SNP T T A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr11:63233640T>A ENST00000540857.1 - 5 791 c.659A>T c.(658-660)gAa>gTa p.E220V HRASLS5_ENST00000301790.4_Missense_Mutation_p.E230V|HRASLS5_ENST00000539221.1_Missense_Mutation_p.E230V NM_001146728.1|NM_001146729.1|NM_054108.3 NP_001140200.1|NP_001140201|NP_473449.1 Q96KN8 HRSL5_HUMAN HRAS-like suppressor family, member 5 230 endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 14 ACAGTTCCCTTCAATCAGGCT 0.507000 23 42 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55107356 55107356 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:55107356C>G ENST00000251372.3 + 6 1096 c.914C>G c.(913-915)tCc>tGc p.S305C LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron NM_006863.2 NP_006854.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 305 Ig-like C2-type 3. 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) AACCTCTCCTCCGAGTGGTCG 0.682000 12 56 0 0 1 0 0 FAM171B 165215 broad.mit.edu 37 2 187626418 187626418 + Missense_Mutation SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:187626418G>C ENST00000304698.5 + 8 1552 c.1349G>C c.(1348-1350)aGa>aCa p.R450T NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 450 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 ACAGAAGAAAGAGTTTCCATG 0.358000 24 30 0 0 1 0 0 DMBX1 127343 broad.mit.edu 37 1 46976766 46976766 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:46976766C>G ENST00000371956.4 + 3 523 c.508C>G c.(508-510)Ctg>Gtg p.L170V DMBX1_ENST00000360032.3_Missense_Mutation_p.L165V NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 170 brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) GCCCCCACGTCTGCCTGGCAG 0.657000 13 59 0 0 1 0 0 SCAF11 9169 broad.mit.edu 37 12 46320208 46320208 + Silent SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr12:46320208C>T ENST00000465950.1 - 1 3540 c.2331G>A c.(2329-2331)caG>caA p.Q777Q SCAF11_ENST00000369367.3_Silent_p.Q1092Q|SCAF11_ENST00000419565.2_Silent_p.Q1092Q|SCAF11_ENST00000549162.1_Silent_p.Q900Q Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 1092 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 GATTTTCATTCTGATCTTTAT 0.433000 25 52 0 0 1 0 0 STAT4 6775 broad.mit.edu 37 2 191934453 191934453 + Missense_Mutation SNP T T G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:191934453T>G ENST00000392320.2 - 6 824 c.510A>C c.(508-510)gaA>gaC p.E170D STAT4_ENST00000358470.4_Missense_Mutation_p.E170D NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 170 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) TGTAGTCAAATTCGTCTTGCA 0.323000 30 52 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51837962 51837962 + Splice_Site SNP C C A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr15:51837962C>A ENST00000251076.5 - 8 1035 c.748G>T c.(748-750)Ggt>Tgt p.G250C DMXL2_ENST00000543779.2_Splice_Site_p.G250C|DMXL2_ENST00000449909.3_Splice_Site_p.G250C NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 250 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) CAGACAGAACCCCTAACAACA 0.353000 38 92 3.78316e-11 3.96725e-11 1 1 0 GDAP1L1 78997 broad.mit.edu 37 20 42891922 42891922 + Missense_Mutation SNP G G T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr20:42891922G>T ENST00000342560.5 + 4 688 c.600G>T c.(598-600)gaG>gaT p.E200D GDAP1L1_ENST00000537864.1_Missense_Mutation_p.E8D NM_001256737.1|NM_024034.4 NP_001243666.1|NP_076939.3 Q96MZ0 GD1L1_HUMAN ganglioside induced differentiation associated protein 1-like 1 200 GST C-terminal. endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1) 18 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) ATGAAGAGGAGCCCCAGCTCT 0.532000 47 169 5.7616e-29 6.23932e-29 1 1 0 MUC5B 727897 broad.mit.edu 37 11 1272743 1272743 + Missense_Mutation SNP A A C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr11:1272743A>C ENST00000447027.1 + 31 14700 c.14642A>C c.(14641-14643)aAa>aCa p.K4881T MUC5B_ENST00000529681.1_Missense_Mutation_p.K4878T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4878 Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CACACCCCCAAAGTGGTGACC 0.657000 12 24 0 0 1 0 0 SYK 6850 broad.mit.edu 37 9 93606295 93606295 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr9:93606295T>C ENST00000375754.4 + 2 263 c.115T>C c.(115-117)Tat>Cat p.Y39H SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375747.1_Missense_Mutation_p.Y39H|SYK_ENST00000375751.4_Missense_Mutation_p.Y39H|SYK_ENST00000375746.1_Missense_Mutation_p.Y39H NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 39 SH2 1. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 TGATGGGCTTTATTTGCTGCG 0.612000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 15 9 0 0 1 0 0 ANXA2R 389289 broad.mit.edu 37 5 43040037 43040037 + Missense_Mutation SNP G G T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr5:43040037G>T ENST00000314890.3 - 2 1531 c.112C>A c.(112-114)Ctt>Att p.L38I NM_001014279.2 NP_001014301.1 Q3ZCQ2 AX2R_HUMAN annexin A2 receptor 38 receptor activity TACAAAGGAAGAGGCCACGGC 0.567000 OREG0016598 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 61 1.08611e-07 1.11721e-07 1 1 0 TFG 10342 broad.mit.edu 37 3 100467057 100467057 + Silent SNP A A T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:100467057A>T ENST00000240851.4 + 8 1225 c.885A>T c.(883-885)ccA>ccT p.P295P TFG_ENST00000476228.1_Silent_p.P291P|TFG_ENST00000481203.1_3'UTR|TFG_ENST00000490574.1_Silent_p.P295P|TFG_ENST00000418917.2_Silent_p.P291P NM_001195478.1|NM_001195479.1|NM_006070.5 NP_001182407.1|NP_001182408.1|NP_006061.2 Q92734 TFG_HUMAN TRK-fused gene 295 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm signal transducer activity TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9) large_intestine(4)|lung(2)|prostate(1)|stomach(1) 8 GCCAGCAACCAACTTCCCAGG 0.493000 T """NTRK1, ALK""" """papillary thyroid, ALCL, NSCLC""" 11 71 0 0 1 0 0 DCUN1D2 55208 broad.mit.edu 37 13 114134914 114134914 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr13:114134914A>G ENST00000478244.1 - 3 647 c.365T>C c.(364-366)tTt>tCt p.F122S DCUN1D2_ENST00000460318.1_5'UTR|DCUN1D2_ENST00000332592.3_Intron|DCUN1D2_ENST00000375399.2_Missense_Mutation_p.F122S NM_001014283.1 NP_001014305.1 Q6PH85 DCNL2_HUMAN DCN1, defective in cullin neddylation 1, domain containing 2 122 DCUN1. breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1) 7 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234) GCCATCTAGAAATTCCTTTCT 0.383000 3 80 0 0 1 0 0 AMER2 219287 broad.mit.edu 37 13 25744214 25744214 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr13:25744214T>C ENST00000357816.2 - 3 1662 c.1187A>G c.(1186-1188)gAa>gGa p.E396G AMER2_ENST00000381853.3_Missense_Mutation_p.E396G|AMER2_ENST00000515384.1_Missense_Mutation_p.E515G APC membrane recruitment protein 2 GGGGACGCCTTCCTGCTGCTC 0.662000 5 48 0 0 1 0 0 CYP11B2 1585 broad.mit.edu 37 8 143996274 143996274 + Missense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr8:143996274G>A ENST00000323110.2 - 4 648 c.646C>T c.(646-648)Ccc>Tcc p.P216S NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 216 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) GCAGAACTGGGGCTGTGGCCA 0.612000 Familial Hyperaldosteronism type I 11 6 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19470510 19470510 + Missense_Mutation SNP T T G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:19470510T>G ENST00000375267.2 - 55 8146 c.8143A>C c.(8143-8145)Act>Cct p.T2715P UBR4_ENST00000375226.2_Missense_Mutation_p.T2726P|UBR4_ENST00000375217.2_Missense_Mutation_p.T2743P|UBR4_ENST00000375254.3_Missense_Mutation_p.T2715P Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 2715 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GAGGGTAAAGTCACATGTCTC 0.488000 28 59 0 0 1 0 0 ZBED4 9889 broad.mit.edu 37 22 50278127 50278127 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr22:50278127A>G ENST00000216268.5 + 2 1294 c.817A>G c.(817-819)Aag>Gag p.K273E NM_014838.2 NP_055653.2 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) CTTAGCGGAGAAGAGCCTTCC 0.572000 26 48 0 0 1 0 0 CLK1 1195 broad.mit.edu 37 2 201722792 201722792 + Missense_Mutation SNP A A C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:201722792A>C ENST00000434813.2 - 6 1029 c.695T>G c.(694-696)gTa>gGa p.V232G CLK1_ENST00000321356.4_Missense_Mutation_p.V190G|CLK1_ENST00000409769.2_Missense_Mutation_p.V13G NM_001162407.1 NP_001155879.1 P49759 CLK1_HUMAN CDC-like kinase 1 190 Protein kinase. cell proliferation nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 AACTATTTTTACTGCTACATG 0.373000 31 52 0 0 1 0 0 MRPL32 64983 broad.mit.edu 37 7 42977014 42977014 + Missense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr7:42977014G>A ENST00000223324.2 + 3 593 c.406G>A c.(406-408)Gaa>Aaa p.E136K MRPL32_ENST00000496564.1_Intron NM_031903.2 NP_114109.1 Q9BYC8 RM32_HUMAN mitochondrial ribosomal protein L32 136 translation large ribosomal subunit|mitochondrial ribosome structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(6) 10 GGAGACTGCAGAAATCAGACG 0.473000 41 34 0 0 1 0 0 WIPI2 26100 broad.mit.edu 37 7 5256811 5256811 + Missense_Mutation SNP T T G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr7:5256811T>G ENST00000288828.4 + 6 801 c.569T>G c.(568-570)aTt>aGt p.I190S WIPI2_ENST00000484262.1_Missense_Mutation_p.I131S|WIPI2_ENST00000404704.3_Missense_Mutation_p.I190S|WIPI2_ENST00000382384.2_Missense_Mutation_p.I172S|WIPI2_ENST00000401525.3_Missense_Mutation_p.I172S NM_001033518.1|NM_001278299.1|NM_015610.3 NP_001028690.1|NP_001265228.1|NP_056425.1 Q9Y4P8 WIPI2_HUMAN WD repeat domain, phosphoinositide interacting 2 190 autophagic vacuole assembly cytosol|PAS complex|pre-autophagosomal structure membrane phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3) 16 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14) TTCGATACCATTAATTTGGTG 0.522000 45 36 0 0 1 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29973250 29973250 + Silent SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chrX:29973250T>C ENST00000378993.1 + 11 2077 c.1404T>C c.(1402-1404)gaT>gaC p.D468D IL1RAPL1_ENST00000302196.4_Silent_p.D468D NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 468 TIR. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 GATGTGTAGATCAAAGCAAGC 0.398000 22 48 0 0 1 0 0 CC2D1B 200014 broad.mit.edu 37 1 52824934 52824934 + Missense_Mutation SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:52824934G>C ENST00000371586.2 - 10 1252 c.1114C>G c.(1114-1116)Cca>Gca p.P372A CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.P372A|CC2D1B_ENST00000438831.1_5'UTR NM_032449.2 NP_115825.1 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B 372 breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 27 GGGGTTGCTGGGACGTCAGGG 0.632000 11 30 0 0 1 0 0 ZBTB22 9278 broad.mit.edu 37 6 33283928 33283928 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr6:33283928T>C ENST00000431845.2 - 2 917 c.766A>G c.(766-768)Aag>Gag p.K256E ZBTB22_ENST00000418724.1_Missense_Mutation_p.K256E NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 256 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 AGCAGCAGCTTTCCAGATGTG 0.647000 11 34 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49221949 49221949 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr11:49221949A>G ENST00000340334.7 - 4 592 c.224T>C c.(223-225)tTt>tCt p.F75S FOLH1_ENST00000356696.3_Missense_Mutation_p.F90S|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000533034.1_Missense_Mutation_p.F75S|FOLH1_ENST00000256999.2_Missense_Mutation_p.F90S NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 90 Y -> H (in dbSNP:rs202676). 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) TGCAAGCTGAAAGTTTTGTTC 0.353000 5 14 0 0 1 0 0 ATP4A 495 broad.mit.edu 37 19 36050019 36050019 + Silent SNP T T G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:36050019T>G ENST00000262623.3 - 8 1159 c.1131A>C c.(1129-1131)acA>acC p.T377T NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 377 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) TGGAGCCCAATGTCTCCACCG 0.592000 64 240 0 0 1 0 0 ASIC4 55515 broad.mit.edu 37 2 220397182 220397182 + Missense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:220397182G>A ENST00000358078.4 + 4 1396 c.1382G>A c.(1381-1383)cGg>cAg p.R461Q ASIC4_ENST00000347842.3_Missense_Mutation_p.R461Q|ASIC4_ENST00000473709.1_3'UTR Q96FT7 ACCN4_HUMAN acid-sensing (proton-gated) ion channel family member 4 461 integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity TGCCACTGCCGGATGGTGCAC 0.667000 9 13 0 0 1 0 0 ARHGAP18 93663 broad.mit.edu 37 6 129959694 129959694 + Missense_Mutation SNP T T G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr6:129959694T>G ENST00000368149.2 - 3 485 c.397A>C c.(397-399)Agc>Cgc p.S133R NM_033515.2 NP_277050.2 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 133 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) AACACAATGCTTTCCTGTGGA 0.463000 24 40 0 0 1 0 0 CDKN2AIP 55602 broad.mit.edu 37 4 184367240 184367240 + Splice_Site SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr4:184367240G>C ENST00000504169.1 + 3 610 c.e3-1 CDKN2AIP_ENST00000506835.1_Splice_Site|CDKN2AIP_ENST00000302350.4_Splice_Site NM_017632.2 NP_060102.1 Q9NXV6 CARF_HUMAN CDKN2A interacting protein negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability granular component|nucleoplasm double-stranded RNA binding|p53 binding endometrium(1)|kidney(2)|large_intestine(2)|lung(1) 6 all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) CTTCTTTTTAGAAGGGGTAGA 0.373000 17 33 0 0 1 0 0 MON2 23041 broad.mit.edu 37 12 62959089 62959089 + Missense_Mutation SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr12:62959089G>C ENST00000393630.3 + 28 4499 c.4108G>C c.(4108-4110)Gaa>Caa p.E1370Q MON2_ENST00000546600.1_Missense_Mutation_p.E1369Q|MON2_ENST00000393632.2_Missense_Mutation_p.E1369Q|MON2_ENST00000393629.2_Missense_Mutation_p.E1369Q|MON2_ENST00000280379.6_Missense_Mutation_p.E1370Q|MON2_ENST00000552738.1_Missense_Mutation_p.E1346Q NM_001278470.1|NM_001278472.1 NP_001265399.1|NP_001265401.1 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) 1370 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) GGCATTTGTAGAATTTTCCTG 0.328000 26 74 0 0 1 0 0 ACP2 53 broad.mit.edu 37 11 47261668 47261668 + Silent SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr11:47261668C>T ENST00000256997.3 - 11 1387 c.1271G>A c.(1270-1272)tGa>tAa p.*424* ACP2_ENST00000533929.1_Silent_p.*396*|ACP2_ENST00000537863.1_Silent_p.*237*|ACP2_ENST00000527256.1_Silent_p.*392*|ACP2_ENST00000529444.1_Silent_p.*361*|ACP2_ENST00000525230.1_5'UTR NM_001610.2 NP_001601.1 P11117 PPAL_HUMAN acid phosphatase 2, lysosomal 0 integral to membrane|lysosomal lumen|lysosomal membrane acid phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1) 10 GAGTGGTTGTCAGGCGTGGTC 0.652000 15 22 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5784258 5784258 + Silent SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr10:5784258T>C ENST00000328090.5 + 14 3151 c.2526T>C c.(2524-2526)ctT>ctC p.L842L RP11-336A10.2_ENST00000411512.2_RNA NM_017782.4 NP_060252 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 842 AGGAGTCCCTTGGTTTGGAAA 0.443000 26 134 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108698499 108698499 + Silent SNP C C G rs75923723 by1000genomes TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:108698499C>G ENST00000232603.5 - 24 2422 c.2340G>C c.(2338-2340)ccG>ccC p.P780P MORC1_ENST00000483760.1_Silent_p.P759P NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 780 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 CATCTTCCATCGGCACATTGA 0.388000 30 97 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46859774 46859774 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr22:46859774A>G ENST00000262738.3 - 2 4012 c.4013T>C c.(4012-4014)tTc>tCc p.F1338S CELSR1_ENST00000395964.1_Missense_Mutation_p.F1338S NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1338 EGF-like 1; calcium-binding. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GATGGGCCGGAAGAGCACGGT 0.657000 5 10 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348739 197348739 + RNA SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:197348739G>C ENST00000418868.1 - 0 520 NR_003266.2 TAATTTTCTAGCTGTGAAAGA 0.398000 5 114 0 0 1 0 0 FMN1 342184 broad.mit.edu 37 15 33261603 33261603 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr15:33261603C>G ENST00000334528.9 - 4 1629 c.1630G>C c.(1630-1632)Gaa>Caa p.E544Q FMN1_ENST00000559047.1_Missense_Mutation_p.E767Q|FMN1_ENST00000561249.1_Missense_Mutation_p.E669Q NM_001103184.2 NP_001096654.1 Q68DA7 FMN1_HUMAN formin 1 767 Mediates interaction with alpha-catenin (By similarity).|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) TTCAGATTTTCAATGGTTTCT 0.463000 45 128 0 0 1 0 0 ALDH18A1 5832 broad.mit.edu 37 10 97380921 97380921 + Missense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr10:97380921G>A ENST00000371224.2 - 12 1471 c.1334C>T c.(1333-1335)gCc>gTc p.A445V ALDH18A1_ENST00000371221.3_Missense_Mutation_p.A443V NM_002860.3 NP_002851.2 P54886 P5CS_HUMAN aldehyde dehydrogenase 18 family, member A1 445 Gamma-glutamyl phosphate reductase. proline biosynthetic process mitochondrial inner membrane ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity 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) CTGGGAGGAGGCTGCGATCTG 0.542000 10 19 0 0 1 0 0 ZNF181 339318 broad.mit.edu 37 19 35232642 35232642 + Missense_Mutation SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:35232642G>C ENST00000392232.3 + 6 1656 c.1488G>C c.(1486-1488)ttG>ttC p.L496F ZNF181_ENST00000459757.2_Missense_Mutation_p.L451F|ZNF181_ENST00000492450.1_Missense_Mutation_p.L452F Q2M3W8 ZN181_HUMAN zinc finger protein 181 452 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) ATATGCATTTGAGAAATCACA 0.383000 21 40 0 0 1 0 0 ACRBP 84519 broad.mit.edu 37 12 6753454 6753454 + Missense_Mutation SNP G G T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr12:6753454G>T ENST00000229243.2 - 5 886 c.793C>A c.(793-795)Cct>Act p.P265T ACRBP_ENST00000414226.2_Missense_Mutation_p.P232T|ACRBP_ENST00000536350.1_Missense_Mutation_p.P265T NM_032489.2 NP_115878.2 Q8NEB7 ACRBP_HUMAN acrosin binding protein 265 acrosomal vesicle|extracellular region NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1) 17 AAAGAGGAAGGGTTAGAAGAT 0.498000 29 33 3.73808e-20 3.9879e-20 1 1 0 MAP1B 4131 broad.mit.edu 37 5 71492598 71492598 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr5:71492598C>G ENST00000296755.7 + 5 3714 c.3416C>G c.(3415-3417)cCt>cGt p.P1139R NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1139 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) ATGTCTACCCCTCGAGACGTG 0.473000 5 18 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168104896 168104896 + Missense_Mutation SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:168104896G>C ENST00000409195.1 + 9 7083 c.6994G>C c.(6994-6996)Gag>Cag p.E2332Q XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2332Q|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2110Q|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2157 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 ACTGTCCACAGAGAAGATAAA 0.423000 30 70 0 0 1 0 0 WDR65 149465 broad.mit.edu 37 1 43649388 43649388 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:43649388C>G ENST00000372492.4 + 4 925 c.601C>G c.(601-603)Cta>Gta p.L201V WDR65_ENST00000528956.1_Missense_Mutation_p.L201V NM_001195831.2 NP_001182760.2 Q96MR6 WDR65_HUMAN WD repeat domain 65 201 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CCAAAACTATCTAGCTCACAC 0.498000 46 84 0 0 1 0 0 WDR38 401551 broad.mit.edu 37 9 127618540 127618540 + Missense_Mutation SNP T T A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr9:127618540T>A ENST00000373574.1 + 5 483 c.427T>A c.(427-429)Tta>Ata p.L143I NM_001045476.1|NM_001276374.1 NP_001038941.1|NP_001263303.1 Q5JTN6 WDR38_HUMAN WD repeat domain 38 143 breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 8 GCTGCGCCTCTTAGTTGGGCA 0.647000 OREG0019485 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 58 0 0 1 0 0 TPD52L2 7165 broad.mit.edu 37 20 62505086 62505086 + Silent SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr20:62505086C>G ENST00000217121.5 + 3 303 c.231C>G c.(229-231)ctC>ctG p.L77L TPD52L2_ENST00000358548.4_Silent_p.L77L|TPD52L2_ENST00000352482.4_Silent_p.L77L|TPD52L2_ENST00000369927.4_Silent_p.L54L|TPD52L2_ENST00000348257.5_Silent_p.L77L|TPD52L2_ENST00000351424.4_Silent_p.L77L|TPD52L2_ENST00000346249.4_Silent_p.L77L NM_199360.2 NP_955392.1 O43399 TPD54_HUMAN tumor protein D52-like 2 77 regulation of cell proliferation perinuclear region of cytoplasm protein binding|protein homodimerization activity endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09) GTGGAGAGCTCAAGAGGAGGC 0.592000 6 9 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72992248 72992248 + Missense_Mutation SNP A A T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr16:72992248A>T ENST00000268489.5 - 2 2469 c.1797T>A c.(1795-1797)aaT>aaA p.N599K ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 599 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GTGCTGTGGCATTGTCTTTAT 0.577000 11 24 0 0 1 0 0 PLA2G6 8398 broad.mit.edu 37 22 38509521 38509521 + Silent SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr22:38509521C>T ENST00000332509.3 - 15 2358 c.2175G>A c.(2173-2175)aaG>aaA p.K725K PLA2G6_ENST00000402064.1_Silent_p.K671K|PLA2G6_ENST00000335539.3_Silent_p.K671K NM_003560.2 NP_003551.2 O60733 PA2G6_HUMAN phospholipase A2, group VI (cytosolic, calcium-independent) 725 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 24 Melanoma(58;0.045) Quinacrine(DB01103) TGCCCAGTTCCTTGGCCCCAA 0.627000 40 14 0 0 1 0 0 TXNDC16 57544 broad.mit.edu 37 14 53003467 53003467 + Missense_Mutation SNP T T G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr14:53003467T>G ENST00000281741.4 - 6 733 c.362A>C c.(361-363)gAt>gCt p.D121A TXNDC16_ENST00000554399.1_Intron NM_001160047.1|NM_020784.2 NP_001153519.1|NP_065835.2 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 121 cell redox homeostasis extracellular region breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1) 21 Breast(41;0.0716) GGCATTCACATCAAACAAGGT 0.318000 10 23 0 0 1 0 0 QPCTL 54814 broad.mit.edu 37 19 46205058 46205058 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:46205058A>G ENST00000012049.5 + 6 1110 c.889A>G c.(889-891)Aag>Gag p.K297E QPCTL_ENST00000366382.4_Missense_Mutation_p.K203E NM_017659.3 NP_060129.2 Q9NXS2 QPCTL_HUMAN glutaminyl-peptide cyclotransferase-like 297 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis Golgi membrane|integral to membrane acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1) 11 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208) ACTTCCAGAGAAGCGTCTGCA 0.557000 21 74 0 0 1 0 0 KIAA0319 9856 broad.mit.edu 37 6 24596147 24596147 + Missense_Mutation SNP T T G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr6:24596147T>G ENST00000535378.1 - 4 1370 c.728A>C c.(727-729)aAg>aCg p.K243T KIAA0319_ENST00000430948.2_Missense_Mutation_p.K207T|KIAA0319_ENST00000378214.3_Missense_Mutation_p.K252T|KIAA0319_ENST00000543707.1_Missense_Mutation_p.K252T|KIAA0319_ENST00000537886.1_Missense_Mutation_p.K252T NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 252 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 CTGAGAAGCCTTTTCTTTCTC 0.542000 24 107 0 0 1 0 0 C4orf29 80167 broad.mit.edu 37 4 128949867 128949867 + Missense_Mutation SNP A A T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr4:128949867A>T ENST00000388795.5 + 11 1196 c.793A>T c.(793-795)Aac>Tac p.N265Y C4orf29_ENST00000398965.1_Missense_Mutation_p.N313Y|C4orf29_ENST00000444616.1_Missense_Mutation_p.N313Y Q0P651 CD029_HUMAN chromosome 4 open reading frame 29 313 extracellular region breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 ACTTTCAACCAACAAAAGTGG 0.383000 44 11 0 0 1 0 0 LRRCC1 85444 broad.mit.edu 37 8 86027662 86027662 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr8:86027662T>C ENST00000414626.2 + 5 1602 c.713T>C c.(712-714)tTg>tCg p.L238S LRRCC1_ENST00000360375.3_Missense_Mutation_p.L258S Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 258 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 TTAGTTCCCTTGGAACAGTTT 0.358000 29 52 0 0 1 0 0 SPTLC3 55304 broad.mit.edu 37 20 13053012 13053012 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr20:13053012T>C ENST00000399002.2 + 3 686 c.412T>C c.(412-414)Ttt>Ctt p.F138L SPTLC3_ENST00000378194.4_Missense_Mutation_p.F138L NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 138 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) AGGGCCTCTGTTTGATTTGAT 0.438000 34 170 0 0 1 0 0 ESF1 51575 broad.mit.edu 37 20 13740438 13740438 + Missense_Mutation SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr20:13740438C>T ENST00000202816.1 - 9 1836 c.1729G>A c.(1729-1731)Gaa>Aaa p.E577K NM_001276380.1|NM_016649.3 NP_001263309.1|NP_057733.2 Q9H501 ESF1_HUMAN ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) 577 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1) 31 GCAATTTGTTCTTCATCATCC 0.328000 12 26 0 0 1 0 0 CENPJ 55835 broad.mit.edu 37 13 25458175 25458175 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr13:25458175C>G ENST00000381884.4 - 16 3935 c.3750G>C c.(3748-3750)caG>caC p.Q1250H CENPJ_ENST00000545981.1_3'UTR NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 1250 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding p.Q1250H(1) endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) TTTTAACAGTCTGGTCAGGAA 0.333000 19 28 0 0 1 0 0 ONECUT2 9480 broad.mit.edu 37 18 55104053 55104053 + Missense_Mutation SNP T T A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr18:55104053T>A ENST00000491143.2 + 1 1137 c.1105T>A c.(1105-1107)Tcc>Acc p.S369T NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 369 organ morphogenesis nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) GGGGACTCTCTCCGACCTGCT 0.602000 6 17 0 0 1 0 0 SLC22A14 9389 broad.mit.edu 37 3 38357068 38357068 + Silent SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:38357068C>G ENST00000273173.4 + 8 1489 c.1398C>G c.(1396-1398)ctC>ctG p.L466L SLC22A14_ENST00000448498.1_Silent_p.L466L NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 466 L -> P (in dbSNP:rs34256819). 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) GCCTCAGACTCAAGTGGCCAC 0.592000 17 44 0 0 1 0 0 ZZZ3 26009 broad.mit.edu 37 1 78098107 78098107 + Silent SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:78098107T>C ENST00000370801.3 - 5 1408 c.933A>G c.(931-933)ttA>ttG p.L311L ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR NM_015534.4 NP_056349.1 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2) 39 CAGAATCCCTTAAAGATGACT 0.453000 16 68 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 42021447 42021447 + Missense_Mutation SNP A A C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr15:42021447A>C ENST00000219905.7 + 11 3924 c.3743A>C c.(3742-3744)aAa>aCa p.K1248T MGA_ENST00000570161.1_Missense_Mutation_p.K1248T|MGA_ENST00000389936.4_Missense_Mutation_p.K1248T|MGA_ENST00000545763.1_Missense_Mutation_p.K1248T|MGA_ENST00000566586.1_Missense_Mutation_p.K1248T NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 1248 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GAGCGAAAAAAAGAGGACCAG 0.418000 7 19 0 0 1 0 0 MAP4K1 11184 broad.mit.edu 37 19 39098768 39098768 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:39098768C>G ENST00000591517.1 - 14 1077 c.1049G>C c.(1048-1050)aGa>aCa p.R350T MAP4K1_ENST00000423454.2_Missense_Mutation_p.R12T|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000396857.2_Missense_Mutation_p.R350T|MAP4K1_ENST00000589130.1_Missense_Mutation_p.R346T NM_007181.4 NP_009112.1 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase kinase 1 350 activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) GGCTGGGGGTCTGGTCTCCAT 0.632000 8 32 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81593586 81593586 + Nonsense_Mutation SNP A A C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr7:81593586A>C ENST00000356860.3 - 33 3002 c.2664T>G c.(2662-2664)taT>taG p.Y888* CACNA2D1_ENST00000535308.1_Nonsense_Mutation_p.Y100*|CACNA2D1_ENST00000356253.5_Nonsense_Mutation_p.Y900* NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 900 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) ATACTGACTGATAATCATAAG 0.413000 29 42 0 0 1 0 0 FUNDC2P2 388965 broad.mit.edu 37 2 84518085 84518085 + RNA SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:84518085A>G ENST00000331369.5 + 0 279 GTGGCAACCCACCTGTTCATT 0.507000 26 70 0 0 1 0 0 DNM1P46 196968 broad.mit.edu 37 15 100340273 100340273 + RNA SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr15:100340273T>C ENST00000341853.1 - 0 653 NR_003260.1 CGCGCCGCTGTGCCTGCTCTG 0.637000 7 16 0 0 1 0 0 VEGFC 7424 broad.mit.edu 37 4 177608622 177608622 + Missense_Mutation SNP T T G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr4:177608622T>G ENST00000280193.2 - 6 1279 c.864A>C c.(862-864)gaA>gaC p.E288D RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA NM_005429.2 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 288 4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C. angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) GACAGGTCTCTTCATCCAGCT 0.478000 8 29 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64465676 64465676 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr14:64465676A>G ENST00000358025.3 + 27 3628 c.3398A>G c.(3397-3399)aAc>aGc p.N1133S SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.N1133S|SYNE2_ENST00000554584.1_Missense_Mutation_p.N1133S NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1133 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) CTGCAAAACAACAAATTCAGG 0.353000 25 61 0 0 1 0 0 ZNF106 64397 broad.mit.edu 37 15 42742330 42742330 + Missense_Mutation SNP T T G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr15:42742330T>G ENST00000263805.4 - 2 2397 c.2071A>C c.(2071-2073)Aca>Cca p.T691P ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron NM_001284306.1|NM_001284307.1|NM_022473.1 NP_001271235.1|NP_001271236.1|NP_071918.1 zinc finger protein 106 AAGCCTTCTGTTTCATAAGAT 0.458000 6 152 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130898785 130898785 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr12:130898785T>C ENST00000261655.4 - 14 2700 c.2537A>G c.(2536-2538)gAa>gGa p.E846G NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 846 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CGGGAGCTCTTCGGCACCAGG 0.562000 11 29 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45645667 45645667 + Missense_Mutation SNP G G T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr5:45645667G>T ENST00000303230.4 - 2 526 c.469C>A c.(469-471)Cta>Ata p.L157I NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 157 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 ATGATGACTAGATTTCCAACC 0.333000 12 88 6.40141e-05 6.49178e-05 1 1 0 PSG2 5670 broad.mit.edu 37 19 43585314 43585314 + Missense_Mutation SNP T T G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:43585314T>G ENST00000406487.1 - 2 247 c.149A>C c.(148-150)gAt>gCt p.D50A NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 50 Ig-like V-type. cell migration|female pregnancy extracellular region p.D50V(2) 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) TAGAAGAACATCCTTCCCCTC 0.468000 74 274 0 0 1 0 0 NDC1 55706 broad.mit.edu 37 1 54262441 54262441 + Missense_Mutation SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:54262441G>C ENST00000371429.3 - 13 2103 c.1505C>G c.(1504-1506)tCt>tGt p.S502C NDC1_ENST00000537333.1_Missense_Mutation_p.S167C|NDC1_ENST00000234725.8_Missense_Mutation_p.S387C|NDC1_ENST00000540001.1_Missense_Mutation_p.S502C NM_001168551.1|NM_018087.4 NP_001162023.1|NP_060557.3 NDC1 transmembrane nucleoporin AATAGAGGTAGATGGAGAAGG 0.368000 25 50 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53678776 53678776 + Missense_Mutation SNP A A T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:53678776A>T ENST00000396424.3 - 3 153 c.64T>A c.(64-66)Tgg>Agg p.W22R ZNF665_ENST00000600412.1_Intron NM_024733.3 NP_079009.3 Q9H7R5 ZN665_HUMAN zinc finger protein 665 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) AGGCATGTCCACTCCTCCTGA 0.433000 37 156 0 0 1 0 0 ULK4 54986 broad.mit.edu 37 3 41977387 41977387 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:41977387T>C ENST00000301831.4 - 4 746 c.284A>G c.(283-285)gAa>gGa p.E95G ULK4_ENST00000420927.1_Missense_Mutation_p.E95G NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 95 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) CACAACATCTTCTGGGAGGTT 0.393000 18 32 0 0 1 0 0 IFRD2 7866 broad.mit.edu 37 3 50327675 50327675 + Missense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:50327675G>A ENST00000436390.1 - 7 811 c.314C>T c.(313-315)tCc>tTc p.S105F IFRD2_ENST00000417626.2_Missense_Mutation_p.S105F|IFRD2_ENST00000336089.4_Missense_Mutation_p.S271F|IFRD2_ENST00000429673.2_Missense_Mutation_p.S169F|IFRD2_ENST00000484043.1_5'UTR Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 169 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) GAGTAGGCGGGACGCTAGGGC 0.647000 5 12 0 0 1 0 0 HCAR2 338442 broad.mit.edu 37 12 123187822 123187822 + Silent SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr12:123187822C>T ENST00000328880.5 - 1 68 c.9G>A c.(7-9)cgG>cgA p.R3R HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA NM_177551.3 NP_808219.1 Q8TDS4 HCAR2_HUMAN hydroxycarboxylic acid receptor 2 3 negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis integral to membrane|plasma membrane nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 15 Mepenzolate(DB04843)|Niacin(DB00627) GCAGATGGTGCCGATTCATGA 0.547000 4 135 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82815664 82815664 + Missense_Mutation SNP C C A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr5:82815664C>A ENST00000265077.3 + 7 2104 c.1539C>A c.(1537-1539)ttC>ttA p.F513L VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.F513L|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.F465L NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 513 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CCAAGGAATTCCCTGTAACTG 0.378000 49 50 1.19451e-25 1.29031e-25 1 1 0 DNAJC16 23341 broad.mit.edu 37 1 15862989 15862989 + Missense_Mutation SNP A A C rs28606019 TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:15862989A>C ENST00000375847.3 + 4 418 c.254A>C c.(253-255)aAg>aCg p.K85T DNAJC16_ENST00000375849.1_Missense_Mutation_p.K85T|DNAJC16_ENST00000375838.1_Missense_Mutation_p.K85T NM_015291.2 NP_056106.1 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 85 J. cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1) 18 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) AATGAAGAAAAGAGATCAAAT 0.378000 9 14 0 0 1 0 0 NARG2 79664 broad.mit.edu 37 15 60715834 60715834 + Nonstop_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr15:60715834C>G ENST00000261520.4 - 16 3182 c.2948G>C c.(2947-2949)tGa>tCa p.*983S NARG2_ENST00000439632.1_Nonstop_Mutation_p.*846S NM_024611.4 NP_078887.2 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 0 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 GTACAGTCCTCAAGTTATTTT 0.363000 9 28 0 0 1 0 0 ZNF442 79973 broad.mit.edu 37 19 12461868 12461868 + Silent SNP T T A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:12461868T>A ENST00000242804.4 - 6 1113 c.531A>T c.(529-531)ggA>ggT p.G177G ZNF442_ENST00000438182.1_Silent_p.G108G NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 AGCGTTTCTTTCCAGTGTGAG 0.418000 35 52 0 0 1 0 0 EPHA1 2041 broad.mit.edu 37 7 143091978 143091978 + Missense_Mutation SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr7:143091978G>C ENST00000275815.3 - 14 2361 c.2275C>G c.(2275-2277)Caa>Gaa p.Q759E NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 759 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) CACAGGTTTTGATTCACCAAG 0.522000 13 39 0 0 1 0 0 CD22 933 broad.mit.edu 37 19 35832501 35832501 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:35832501A>G ENST00000085219.5 + 8 1829 c.1763A>G c.(1762-1764)gAa>gGa p.E588G CD22_ENST00000536635.2_Missense_Mutation_p.E500G|CD22_ENST00000341773.6_Missense_Mutation_p.E411G|CD22_ENST00000594250.1_Missense_Mutation_p.E411G|CD22_ENST00000419549.2_Missense_Mutation_p.E416G|CD22_ENST00000544992.2_Missense_Mutation_p.E588G|CD22_ENST00000270311.6_Missense_Mutation_p.E468G NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 588 cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) TGGACACTTGAAGTGCTGTGT 0.597000 16 75 0 0 1 0 0 NCK2 8440 broad.mit.edu 37 2 106498105 106498105 + Missense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:106498105G>A ENST00000233154.4 + 4 990 c.548G>A c.(547-549)cGc>cAc p.R183H NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.R183H NM_003581.4 NP_003572.2 O43639 NCK2_HUMAN NCK adaptor protein 2 183 axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation cytosol|endoplasmic reticulum cytoskeletal adaptor activity|receptor signaling complex scaffold activity endometrium(1)|lung(3)|ovary(1) 5 CTGAGCCTGCGCAAGGGCGCC 0.652000 14 24 0 0 1 0 0 TCERG1 10915 broad.mit.edu 37 5 145834827 145834827 + Missense_Mutation SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr5:145834827G>C ENST00000296702.5 + 2 306 c.268G>C c.(268-270)Ggc>Cgc p.G90R TCERG1_ENST00000394421.2_Missense_Mutation_p.G90R NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 90 Pro-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCCACCTATGGGCCCTCCACA 0.488000 29 31 0 0 1 0 0 ITGA11 22801 broad.mit.edu 37 15 68657094 68657094 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr15:68657094A>G ENST00000423218.2 - 4 403 c.308T>C c.(307-309)aTg>aCg p.M103T ITGA11_ENST00000315757.7_Missense_Mutation_p.M103T|ITGA11_ENST00000562826.1_5'UTR Q9UKX5 ITA11_HUMAN integrin, alpha 11 103 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) GCCGAGGCGCATGTTGTCTTT 0.642000 7 21 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58614553 58614553 + Nonsense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr16:58614553G>A ENST00000317147.5 - 12 1659 c.1327C>T c.(1327-1329)Cga>Tga p.R443* CNOT1_ENST00000569240.1_Nonsense_Mutation_p.R443*|CNOT1_ENST00000441024.2_Nonsense_Mutation_p.R443* NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 443 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) GCAATTTCTCGATTGTCATCC 0.343000 10 27 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200959321 200959321 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:200959321A>G ENST00000332129.2 - 20 3291 c.2975T>C c.(2974-2976)aTc>aCc p.I992T KIF21B_ENST00000461742.2_Missense_Mutation_p.I992T|KIF21B_ENST00000422435.2_Missense_Mutation_p.I992T|KIF21B_ENST00000360529.5_Missense_Mutation_p.I992T 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 992 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 GCCGTCATTGATGTAGTCAAT 0.647000 4 44 0 0 1 0 0 MCM10 55388 broad.mit.edu 37 10 13228174 13228174 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr10:13228174C>G ENST00000378694.1 + 8 1184 c.1109C>G c.(1108-1110)tCt>tGt p.S370C MCM10_ENST00000378714.3_Missense_Mutation_p.S370C|MCM10_ENST00000484800.2_Missense_Mutation_p.S371C Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 371 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 GTGTGTTTATCTATCGATCAT 0.438000 51 181 0 0 1 0 0 SLFN11 91607 broad.mit.edu 37 17 33680027 33680027 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr17:33680027T>C ENST00000394566.1 - 7 2326 c.2054A>G c.(2053-2055)aAa>aGa p.K685R SLFN11_ENST00000308377.4_Missense_Mutation_p.K685R NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 685 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGTGATGCTTTTTGCCTTCCC 0.468000 39 74 0 0 1 0 0 FAM21A 387680 broad.mit.edu 37 10 51829387 51829387 + Silent SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr10:51829387T>C ENST00000351071.6 + 3 325 c.207T>C c.(205-207)atT>atC p.I69I FAM21A_ENST00000282633.5_Silent_p.I69I|FAM21A_ENST00000314664.7_Silent_p.I69I|FAM21A_ENST00000492914.1_3'UTR Q641Q2 FA21A_HUMAN family with sequence similarity 21, member A 69 retrograde transport, endosome to Golgi early endosome membrane|WASH complex p.I69I(3) breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 15 ACGGACTAATTCGGGAAACCA 0.368000 4 266 0 0 1 0 0 WDR11 55717 broad.mit.edu 37 10 122612070 122612070 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr10:122612070T>C ENST00000263461.6 + 2 367 c.121T>C c.(121-123)Tca>Cca p.S41P NM_018117.11 NP_060587.8 Q9BZH6 WDR11_HUMAN WD repeat domain 11 41 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 TGGATGTCATTCACTTGTGGT 0.383000 21 31 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100345782 100345782 + RNA SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr7:100345782G>A ENST00000542585.1 + 0 1194 ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_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) GGCGTTTTTGGAAAGACCCCA 0.587000 11 16 0 0 1 0 0 STAG1 10274 broad.mit.edu 37 3 136139966 136139966 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:136139966A>G ENST00000383202.2 - 20 2333 c.2077T>C c.(2077-2079)Tct>Cct p.S693P STAG1_ENST00000536929.1_Missense_Mutation_p.S277P|STAG1_ENST00000434713.2_Missense_Mutation_p.S467P|STAG1_ENST00000236698.5_Missense_Mutation_p.S693P NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 693 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 TTTAATGTAGAAAGAACATTG 0.348000 25 99 0 0 1 0 0 SLC1A5 6510 broad.mit.edu 37 19 47285670 47285670 + Missense_Mutation SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:47285670G>C ENST00000542575.2 - 4 1422 c.794C>G c.(793-795)gCc>gGc p.A265G SLC1A5_ENST00000412532.2_Missense_Mutation_p.A37G|SLC1A5_ENST00000594991.1_Missense_Mutation_p.A89G|SLC1A5_ENST00000434726.2_Missense_Mutation_p.A63G NM_005628.2 NP_005619.1 Q15758 AAAT_HUMAN solute carrier family 1 (neutral amino acid transporter), member 5 265 cellular nitrogen compound metabolic process integral to plasma membrane|melanosome|membrane fraction neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1) 13 all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341) L-Asparagine(DB00174)|L-Glutamine(DB00130) AACCATGGTGGCCTCATTGAA 0.612000 9 51 0 0 1 0 0 IRF3 3661 broad.mit.edu 37 19 50166673 50166673 + Missense_Mutation SNP T T G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:50166673T>G ENST00000597198.1 - 3 645 c.264A>C c.(262-264)gaA>gaC p.E88D IRF3_ENST00000377139.3_Missense_Mutation_p.E88D|IRF3_ENST00000309877.7_Missense_Mutation_p.E88D|IRF3_ENST00000600911.1_Missense_Mutation_p.E88D|IRF3_ENST00000442265.2_Intron|IRF3_ENST00000600022.1_5'UTR|IRF3_ENST00000601291.1_Missense_Mutation_p.E88D|IRF3_ENST00000599223.1_Missense_Mutation_p.E88D|IRF3_ENST00000593922.1_5'UTR|IRF3_ENST00000596822.1_5'UTR|IRF3_ENST00000599144.1_Intron|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000598808.1_5'UTR|IRF3_ENST00000377135.4_Missense_Mutation_p.E88D Q14653 IRF3_HUMAN interferon regulatory factor 3 88 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) AACGCAACCCTTCTTTGCGGT 0.572000 5 43 0 0 1 0 0 ST3GAL5 8869 broad.mit.edu 37 2 86071658 86071658 + Missense_Mutation SNP A A T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:86071658A>T ENST00000377332.3 - 6 977 c.869T>A c.(868-870)tTc>tAc p.F290Y ST3GAL5_ENST00000393805.1_Missense_Mutation_p.F262Y|ST3GAL5_ENST00000393808.3_Missense_Mutation_p.F267Y NM_003896.3 NP_003887.3 Q9UNP4 SIAT9_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 5 290 ganglioside biosynthetic process|protein glycosylation integral to Golgi membrane|integral to plasma membrane lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 CTTCCAAAAGAAGAGTCGTAC 0.458000 12 50 0 0 1 0 0 SLCO4A1 28231 broad.mit.edu 37 20 61297783 61297783 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr20:61297783T>C ENST00000217159.1 + 7 1533 c.1328T>C c.(1327-1329)tTt>tCt p.F443S SLCO4A1_ENST00000370507.1_Missense_Mutation_p.F443S|RP11-93B14.5_ENST00000451648.1_RNA|SLCO4A1_ENST00000470412.1_3'UTR|RP11-93B14.5_ENST00000411824.1_RNA|RP11-93B14.5_ENST00000433126.1_RNA NM_016354.3 NP_057438.3 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family, member 4A1 443 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2) 21 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) GGCGGCTTCTTTGTGAACAAG 0.647000 26 88 0 0 1 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50190039 50190039 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr12:50190039A>G ENST00000335999.6 - 8 1805 c.1604T>C c.(1603-1605)cTc>cCc p.L535P NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 531 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 CGGGGGTCTGAGCTGTGTGGA 0.637000 3 11 0 0 1 0 0 CPN2 1370 broad.mit.edu 37 3 194062010 194062010 + Missense_Mutation SNP T T A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:194062010T>A ENST00000323830.3 - 2 1511 c.1422A>T c.(1420-1422)gaA>gaT p.E474D CPN2_ENST00000429275.1_Missense_Mutation_p.E474D NM_001080513.2 NP_001073982 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 474 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) GGGCTGCCCTTTCCTGCACAG 0.667000 20 79 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 38117392 38117392 + Silent SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr4:38117392T>C ENST00000261439.4 + 16 2974 c.2619T>C c.(2617-2619)ctT>ctC p.L873L TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Silent_p.L967L 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 1 873 Rab-GAP TBC. 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 AGCTATCGCTTTACAACATTT 0.428000 29 54 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65464349 65464349 + Silent SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:65464349G>A ENST00000330909.8 - 4 674 c.675C>T c.(673-675)taC>taT p.Y225Y MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Silent_p.Y225Y|MAGI1_ENST00000402939.2_Silent_p.Y225Y|MAGI1_ENST00000497477.2_Silent_p.Y225Y NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 225 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) GCATATCATTGTAGGACTTGG 0.512000 32 37 0 0 1 0 0 WNT2 7472 broad.mit.edu 37 7 116937822 116937822 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr7:116937822A>G ENST00000265441.3 - 4 996 c.697T>C c.(697-699)Tat>Cat p.Y233H NM_003391.2 NP_003382.1 P09544 WNT2_HUMAN wingless-type MMTV integration site family member 2 233 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) CTCCAGAGATAATCGCCCGTT 0.532000 28 36 0 0 1 0 0 AURKC 6795 broad.mit.edu 37 19 57746385 57746385 + Missense_Mutation SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:57746385G>C ENST00000302804.7 + 6 904 c.718G>C c.(718-720)Gag>Cag p.E240Q AURKC_ENST00000598785.1_Missense_Mutation_p.E206Q|AURKC_ENST00000415300.2_Missense_Mutation_p.E221Q|AURKC_ENST00000448930.1_Missense_Mutation_p.E206Q|AURKC_ENST00000599062.1_Missense_Mutation_p.E237Q NM_001015878.1 NP_001015878.1 Q9UQB9 AURKC_HUMAN aurora kinase C 240 Protein kinase. cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1) 25 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;0.0122) TCCACCCTTTGAGAGCGCCTC 0.542000 30 50 0 0 1 0 0 MARK1 4139 broad.mit.edu 37 1 220777454 220777454 + Missense_Mutation SNP A A T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:220777454A>T ENST00000402574.1 + 6 1067 c.65A>T c.(64-66)aAa>aTa p.K22I MARK1_ENST00000366918.4_Missense_Mutation_p.K135I|MARK1_ENST00000366917.4_Missense_Mutation_p.K157I NM_018650.3 NP_061120.3 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 157 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) ATGAAAGAGAAAGAGGCCCGT 0.353000 25 70 0 0 1 0 0 PROCA1 147011 broad.mit.edu 37 17 27031199 27031199 + Missense_Mutation SNP C C A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr17:27031199C>A ENST00000301039.2 - 4 581 c.388G>T c.(388-390)Gtg>Ttg p.V130L PROCA1_ENST00000581289.1_Missense_Mutation_p.Q41H|PROCA1_ENST00000439862.3_Missense_Mutation_p.V132L|PROCA1_ENST00000579650.1_5'UTR NM_152465.1 NP_689678.1 Q8NCQ7 PRCA1_HUMAN protein interacting with cyclin A1 158 lipid catabolic process calcium ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) TGGTGGATCACTGCCACAGAG 0.567000 21 32 1.01871e-10 1.06569e-10 1 1 0 DCP2 167227 broad.mit.edu 37 5 112339742 112339742 + Missense_Mutation SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr5:112339742C>T ENST00000389063.2 + 8 1108 c.910C>T c.(910-912)Cat>Tat p.H304Y DCP2_ENST00000543319.1_Missense_Mutation_p.H93Y|DCP2_ENST00000515408.1_Missense_Mutation_p.H304Y NM_152624.5 NP_689837 Q8IU60 DCP2_HUMAN decapping mRNA 2 304 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding endometrium(3)|large_intestine(6)|lung(1) 10 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171) ATATAATAATCATTCTGAAAT 0.388000 45 47 0 0 1 0 0 MFSD4 148808 broad.mit.edu 37 1 205553193 205553193 + Silent SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:205553193A>G ENST00000367147.4 + 4 894 c.801A>G c.(799-801)acA>acG p.T267T MFSD4_ENST00000539267.1_Silent_p.T267T|MFSD4_ENST00000536357.1_Silent_p.T180T NM_181644.4 NP_857595.3 Q8N468 MFSD4_HUMAN major facilitator superfamily domain containing 4 267 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) CCTTGGAGACACAGCCTCCTG 0.572000 3 46 0 0 1 0 0 JMJD1C 221037 broad.mit.edu 37 10 64967851 64967851 + Missense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr10:64967851G>A ENST00000399262.2 - 10 3796 c.3578C>T c.(3577-3579)tCt>tTt p.S1193F JMJD1C_ENST00000399251.1_Missense_Mutation_p.S974F|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S974F|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S1011F NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1193 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) TGTATTTGTAGAAGAAACTGT 0.433000 27 149 0 0 1 0 0 STRIP2 57464 broad.mit.edu 37 7 129102807 129102807 + Splice_Site SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr7:129102807G>A ENST00000249344.2 + 14 1517 c.1477G>A c.(1477-1479)Ggg>Agg p.G493R STRIP2_ENST00000435494.2_Splice_Site_p.G493R NM_020704.2 NP_065755.1 striatin interacting protein 2 CTTGCCATAGGGGGAAGAGGT 0.498000 23 54 0 0 1 0 0 ACAP3 116983 broad.mit.edu 37 1 1233313 1233313 + Splice_Site SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:1233313C>T ENST00000354700.5 - 14 1219 c.1017G>A c.(1015-1017)aaG>aaA p.K339K ACAP3_ENST00000353662.3_Splice_Site_p.K297K|ACAP3_ENST00000379037.2_5'UTR NM_030649.2 NP_085152.2 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 339 PH. filopodium assembly|regulation of ARF GTPase activity|signal transduction ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 14 GCATGCAGCTCCTGCAGGCAG 0.701000 6 27 0 0 1 0 0 SSNA1 8636 broad.mit.edu 37 9 140083666 140083666 + Silent SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr9:140083666T>C ENST00000322310.5 + 2 281 c.201T>C c.(199-201)tcT>tcC p.S67S SSNA1_ENST00000459860.1_3'UTR NM_003731.2 NP_003722.2 O43805 SSNA1_HUMAN Sjogren syndrome nuclear autoantigen 1 67 G2/M transition of mitotic cell cycle centrosome|cytosol|nucleus breast(2)|kidney(1)|large_intestine(1)|lung(2) 6 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.43e-05)|Epithelial(140;0.00087) AGATTGCCTCTCGCAACGAGT 0.647000 19 51 0 0 1 0 0 ABCD2 225 broad.mit.edu 37 12 40010952 40010952 + Nonsense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr12:40010952G>A ENST00000308666.3 - 2 1093 c.958C>T c.(958-960)Cag>Tag p.Q320* NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 320 ABC transmembrane type-1. 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 TAACTTTTCTGAAGTTGTTTC 0.303000 4 46 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121348870 121348870 + Nonsense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr11:121348870C>G ENST00000260197.7 + 3 575 c.446C>G c.(445-447)tCa>tGa p.S149* SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 149 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) AAGAAAATTTCAGACAAGTTA 0.438000 27 46 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36333175 36333175 + Silent SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:36333175G>C ENST00000378910.5 - 19 2513 c.2514C>G c.(2512-2514)ccC>ccG p.P838P NPHS1_ENST00000353632.6_Silent_p.P838P NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 838 Ig-like C2-type 8. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 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) GCTCCACCTGGGGGGCAACTG 0.597000 6 20 0 0 1 0 0 ZNF154 7710 broad.mit.edu 37 19 58213188 58213188 + Nonsense_Mutation SNP T T A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:58213188T>A ENST00000512439.2 - 3 1325 c.1129A>T c.(1129-1131)Aga>Tga p.R377* AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Nonsense_Mutation_p.R377* Q13106 ZN154_HUMAN zinc finger protein 154 377 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(3) 12 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;0.0257) GTGTGAACTCTCTGGTGTTTT 0.498000 25 144 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42224508 42224508 + Silent SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr6:42224508T>C ENST00000541110.1 - 12 3166 c.2598A>G c.(2596-2598)gaA>gaG p.E866E TRERF1_ENST00000372917.4_Silent_p.E763E|TRERF1_ENST00000340840.2_Silent_p.E763E|TRERF1_ENST00000372922.4_Silent_p.E846E|TRERF1_ENST00000354325.2_Silent_p.E763E Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 846 ELM2.|Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GCAAAGCAAATTCAGAATTGG 0.438000 41 50 0 0 1 0 0 LAMP3 27074 broad.mit.edu 37 3 182853668 182853668 + Silent SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:182853668A>G ENST00000265598.3 - 5 1209 c.954T>C c.(952-954)atT>atC p.I318I LAMP3_ENST00000466939.1_Silent_p.I294I NM_014398.3 NP_055213.2 Q9UQV4 LAMP3_HUMAN lysosomal-associated membrane protein 3 318 I -> V (in dbSNP:rs482912). 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) TTCCTTGGTAAATTGTCTCTG 0.527000 56 199 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 150840605 150840605 + Silent SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:150840605A>G ENST00000474524.1 + 3 278 c.240A>G c.(238-240)aaA>aaG p.K80K MED12L_ENST00000309237.4_Silent_p.K80K|MED12L_ENST00000422248.2_Silent_p.K80K|MED12L_ENST00000273432.4_Silent_p.K80K NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 80 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) TAGCTGAGAAACTGAAGCTTA 0.378000 11 38 0 0 1 0 0 FGFR1 2260 broad.mit.edu 37 8 38271525 38271525 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr8:38271525C>G ENST00000447712.2 - 17 3144 c.2203G>C c.(2203-2205)Gac>Cac p.D735H FGFR1_ENST00000397108.4_Missense_Mutation_p.D733H|FGFR1_ENST00000532791.1_Missense_Mutation_p.D733H|FGFR1_ENST00000356207.5_Missense_Mutation_p.D646H|FGFR1_ENST00000341462.5_Missense_Mutation_p.D735H|FGFR1_ENST00000335922.5_Missense_Mutation_p.D725H|FGFR1_ENST00000326324.6_Missense_Mutation_p.D644H|FGFR1_ENST00000397113.2_Missense_Mutation_p.D733H|FGFR1_ENST00000397091.5_Missense_Mutation_p.D733H|FGFR1_ENST00000397103.1_Missense_Mutation_p.D646H|FGFR1_ENST00000425967.3_Missense_Mutation_p.D766H NM_001174063.1|NM_015850.3|NM_023110.2 NP_001167534.1|NP_056934.2|NP_075598.2 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 735 Protein kinase. axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) TGCCAGCAGTCCCGCATCATC 0.597000 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 13 3 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 4 58 0 0 1 0 0 KIRREL 55243 broad.mit.edu 37 1 158061339 158061339 + Silent SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:158061339A>G ENST00000368172.1 + 7 918 c.906A>G c.(904-906)gaA>gaG p.E302E KIRREL_ENST00000416935.2_Silent_p.E388E|KIRREL_ENST00000359209.6_Silent_p.E488E|KIRREL_ENST00000360089.4_Silent_p.E324E|KIRREL_ENST00000368173.3_Silent_p.E504E|KIRREL_ENST00000392272.2_Silent_p.E385E Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 488 integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) TCCAGCTGGAAGAGCGAGGTG 0.597000 3 46 0 0 1 0 0 SLC18A3 6572 broad.mit.edu 37 10 50819507 50819507 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr10:50819507A>G ENST00000374115.3 + 1 1161 c.721A>G c.(721-723)Aag>Gag p.K241E CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 241 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 GTTCGCCGGCAAGCGCGTGCC 0.672000 3 26 0 0 1 0 0 ZNF135 7694 broad.mit.edu 37 19 58570653 58570653 + Missense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:58570653G>A ENST00000401053.4 + 1 47 c.44G>A c.(43-45)cGc>cAc p.R15H ZNF135_ENST00000439855.2_5'UTR|ZNF135_ENST00000506786.1_5'UTR|ZNF135_ENST00000359978.6_Missense_Mutation_p.R15H|ZNF135_ENST00000511556.1_5'UTR|ZNF135_ENST00000313434.5_5'UTR NM_001164529.1|NM_007134.1 NP_001158001.1|NP_009065.1 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 0 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) TGCCGGTGCCGCGGCCTTTGT 0.761000 5 31 0 0 1 0 0 LYN 4067 broad.mit.edu 37 8 56910944 56910944 + Missense_Mutation SNP A A C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr8:56910944A>C ENST00000520220.2 + 11 1301 c.1027A>C c.(1027-1029)Att>Ctt p.I343L LYN_ENST00000420292.1_3'UTR|LYN_ENST00000519728.1_Missense_Mutation_p.I364L NM_001111097.2 NP_001104567.1 P07948 LYN_HUMAN v-yes-1 Yamaguchi sarcoma viral related oncogene homolog 364 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) GAAGAACTACATTCACCGGGA 0.448000 14 46 0 0 1 0 0 CDH17 1015 broad.mit.edu 37 8 95158244 95158244 + Silent SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr8:95158244A>G ENST00000027335.3 - 15 2203 c.2079T>C c.(2077-2079)gaT>gaC p.D693D CDH17_ENST00000450165.2_Silent_p.D693D|CDH17_ENST00000441892.2_Silent_p.D479D NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 693 Cadherin 7. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) AGTGCTGATCATCATCAGTAG 0.488000 50 26 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139906744 139906744 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr9:139906744T>C ENST00000265662.5 - 33 5419 c.5272A>G c.(5272-5274)Aag>Gag p.K1758E ABCA2_ENST00000341511.6_Missense_Mutation_p.K1758E|ABCA2_ENST00000371605.3_Missense_Mutation_p.K1757E Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1757 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CCCTTGCTCTTGGGCAGGTTG 0.647000 5 14 0 0 1 0 0 TRIM14 9830 broad.mit.edu 37 9 100862390 100862390 + Silent SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr9:100862390T>C ENST00000341469.2 - 3 369 c.360A>G c.(358-360)ttA>ttG p.L120L TRIM14_ENST00000375098.3_Silent_p.L120L|TRIM14_ENST00000342043.3_Silent_p.L120L NM_014788.2 NP_055603.2 Q14142 TRI14_HUMAN tripartite motif containing 14 120 cytoplasm|intracellular zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(62;0.0559) CGTCAAGTAGTAATCTGAGTT 0.453000 82 73 0 0 1 0 0 SSU72 29101 broad.mit.edu 37 1 1500213 1500213 + Missense_Mutation SNP T T G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:1500213T>G ENST00000359060.4 - 2 190 c.164A>C c.(163-165)tAt>tCt p.Y55S SSU72_ENST00000291386.3_Missense_Mutation_p.Y55S Q9NP77 SSU72_HUMAN SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) 55 mRNA processing cytoplasm|nucleus phosphoprotein phosphatase activity large_intestine(2)|lung(5) 7 all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.03e-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;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) TTTGAAATCATAAACATTGGG 0.478000 18 63 0 0 1 0 0 TAF6 6878 broad.mit.edu 37 7 99711931 99711931 + Missense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr7:99711931G>A ENST00000472509.1 - 1 250 c.73C>T c.(73-75)Cac>Tac p.H25Y TAF6_ENST00000453269.2_Intron|TAF6_ENST00000418432.2_Intron|TAF6_ENST00000452041.1_Intron|TAF6_ENST00000344095.4_Intron|TAF6_ENST00000437822.2_Intron|TAF6_ENST00000497233.1_Intron P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 640 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|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 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AAAGAAACGTGAGACACAGGG 0.577000 8 11 0 0 1 0 0 ERAP1 51752 broad.mit.edu 37 5 96139222 96139222 + Silent SNP G G A rs113481697 byFrequency TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr5:96139222G>A ENST00000296754.3 - 2 665 c.408C>T c.(406-408)ccC>ccT p.P136P ERAP1_ENST00000443439.2_Silent_p.P136P NM_016442.3 NP_057526.3 Q9NZ08 ERAP1_HUMAN endoplasmic reticulum aminopeptidase 1 136 angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2) 19 all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244) all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071) GGAGGGGCTCGGGAGCCAGCA 0.562000 16 53 0 0 1 0 0 LYN 4067 broad.mit.edu 37 8 56910945 56910945 + Missense_Mutation SNP T T A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr8:56910945T>A ENST00000520220.2 + 11 1302 c.1028T>A c.(1027-1029)aTt>aAt p.I343N LYN_ENST00000420292.1_3'UTR|LYN_ENST00000519728.1_Missense_Mutation_p.I364N NM_001111097.2 NP_001104567.1 P07948 LYN_HUMAN v-yes-1 Yamaguchi sarcoma viral related oncogene homolog 364 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) AAGAACTACATTCACCGGGAC 0.453000 14 46 0 0 1 0 0 PTGS1 5742 broad.mit.edu 37 9 125145851 125145851 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr9:125145851C>G ENST00000362012.2 + 8 831 c.826C>G c.(826-828)Cga>Gga p.R276G PTGS1_ENST00000223423.4_Missense_Mutation_p.R276G|PTGS1_ENST00000373698.5_Missense_Mutation_p.R167G|PTGS1_ENST00000540753.1_Missense_Mutation_p.R251G NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2 NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 276 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) GCACTACCCCCGAGGCATCCC 0.632000 9 33 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9015692 9015692 + Nonsense_Mutation SNP T T A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:9015692T>A ENST00000397910.4 - 29 38334 c.38131A>T c.(38131-38133)Aag>Tag p.K12711* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12713 SEA 5. 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 TCCTCGTACTTCAGGTTGGTG 0.507000 29 68 0 0 1 0 0 OR5B17 219965 broad.mit.edu 37 11 58125905 58125905 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr11:58125905A>G ENST00000357377.3 - 1 637 c.638T>C c.(637-639)tTg>tCg p.L213S NM_001005489.1 NP_001005489.1 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, member 17 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Esophageal squamous(5;0.0027) Breast(21;0.0778) ATAGGAAATCAAGGTAACAAG 0.388000 14 22 0 0 1 0 0 TDRD7 23424 broad.mit.edu 37 9 100222920 100222920 + Missense_Mutation SNP A A C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr9:100222920A>C ENST00000355295.4 + 7 1611 c.1316A>C c.(1315-1317)gAa>gCa p.E439A TDRD7_ENST00000422139.2_Missense_Mutation_p.E365A NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 439 Lotus/OST-HTH 3. lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) CAGGTAGAAGAAAGCATTGCT 0.413000 13 101 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152283965 152283965 + Missense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:152283965G>A ENST00000368799.1 - 3 3432 c.3397C>T c.(3397-3399)Cgg>Tgg p.R1133W FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1133 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) GTCCTGGTCCGCCCATGGGCA 0.597000 Ichthyosis 81 162 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124827703 124827703 + Missense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr12:124827703G>A ENST00000356219.3 - 34 4960 c.4805C>T c.(4804-4806)tCc>tTc p.S1602F NCOR2_ENST00000405201.1_Missense_Mutation_p.S1595F|NCOR2_ENST00000397355.1_Missense_Mutation_p.S1586F|NCOR2_ENST00000404621.1_Missense_Mutation_p.S1585F|NCOR2_ENST00000429285.2_Missense_Mutation_p.S1585F|NCOR2_ENST00000404121.2_Missense_Mutation_p.S1156F NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 1603 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GCTGTGCGGGGACTTGGCGAT 0.652000 8 20 0 0 1 0 0 CER1 9350 broad.mit.edu 37 9 14722421 14722421 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr9:14722421C>G ENST00000380911.3 - 1 294 c.250G>C c.(250-252)Ggc>Cgc p.G84R NM_005454.2 NP_005445.1 O95813 CER1_HUMAN cerberus 1, DAN family BMP antagonist 84 BMP signaling pathway extracellular space cytokine activity endometrium(2)|large_intestine(3)|lung(6) 11 GBM - Glioblastoma multiforme(50;3.16e-06) CAGAACCTGCCAAATCTGGAC 0.562000 13 32 0 0 1 0 0 ABCC5 10057 broad.mit.edu 37 3 183665155 183665155 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:183665155A>G ENST00000334444.6 - 23 3611 c.3371T>C c.(3370-3372)aTt>aCt p.I1124T ABCC5_ENST00000265586.6_Missense_Mutation_p.I1081T NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 1124 ABC transmembrane type-1 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GGCTGGGGGAATCTGCCCGTG 0.577000 7 11 0 0 1 0 0 SLC9B1 150159 broad.mit.edu 37 4 103822285 103822285 + Missense_Mutation SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr4:103822285C>T ENST00000296422.7 - 12 1678 c.1537G>A c.(1537-1539)Gaa>Aaa p.E513K SLC9B1_ENST00000512651.2_5'UTR|SLC9B1_ENST00000394789.3_Intron NM_139173.3 NP_631912 Q4ZJI4 NHDC1_HUMAN solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 513 integral to membrane solute:hydrogen antiporter activity TAATGATGTTCTAATGTTGAC 0.368000 21 67 0 0 1 0 0 CENPJ 55835 broad.mit.edu 37 13 25457446 25457446 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr13:25457446T>C ENST00000381884.4 - 17 4071 c.3886A>G c.(3886-3888)Aag>Gag p.K1296E CENPJ_ENST00000545981.1_3'UTR NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 1296 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) TCCCGTCTCTTGAACTGGGCA 0.363000 47 69 0 0 1 0 0 ACSBG1 23205 broad.mit.edu 37 15 78463808 78463808 + Missense_Mutation SNP A A C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr15:78463808A>C ENST00000258873.4 - 14 2358 c.2153T>G c.(2152-2154)tTt>tGt p.F718C ACSBG1_ENST00000560817.1_Missense_Mutation_p.F476C|IDH3A_ENST00000299518.2_3'UTR|ACSBG1_ENST00000541759.1_Missense_Mutation_p.F476C NM_001199377.1|NM_015162.4 NP_001186306.1|NP_055977.3 Q96GR2 ACBG1_HUMAN acyl-CoA synthetase bubblegum family member 1 718 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 CTCTTGGTAAAAGGAGTCAAT 0.473000 7 36 0 0 1 0 0 NKD1 85407 broad.mit.edu 37 16 50667470 50667470 + Silent SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr16:50667470C>G ENST00000268459.3 + 10 1415 c.1191C>G c.(1189-1191)ctC>ctG p.L397L NM_033119.4 NP_149110.1 Q969G9 NKD1_HUMAN naked cuticle homolog 1 (Drosophila) 397 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2) 23 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) TAGCCCCCCTCGGGCACAAGA 0.726000 4 9 0 0 1 0 0 DIAPH2 1730 broad.mit.edu 37 X 96854270 96854270 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chrX:96854270T>C ENST00000324765.8 + 27 3607 c.3260T>C c.(3259-3261)tTg>tCg p.L1087S DIAPH2-AS1_ENST00000445414.1_RNA|DIAPH2_ENST00000373061.3_Missense_Mutation_p.L1087S|DIAPH2_ENST00000373054.4_Missense_Mutation_p.L1083S O60879 DIAP2_HUMAN diaphanous-related formin 2 1087 cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 CGAGTACCTTTGGAAAGGTCA 0.353000 5 14 0 0 1 0 0 TSLP 85480 broad.mit.edu 37 5 110409248 110409248 + Missense_Mutation SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr5:110409248C>T ENST00000420978.2 + 4 1678 c.256C>T c.(256-258)Ccc>Tcc p.P86S TSLP_ENST00000344895.3_Missense_Mutation_p.P86S|TSLP_ENST00000379706.4_5'UTR Q969D9 TSLP_HUMAN thymic stromal lymphopoietin 86 extracellular space cytokine activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109) AACCTTCAATCCCACCGCCGG 0.507000 104 24 0 0 1 0 0 SMO 6608 broad.mit.edu 37 7 128852186 128852186 + Missense_Mutation SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr7:128852186C>T ENST00000249373.3 + 12 2538 c.2258C>T c.(2257-2259)cCg>cTg p.P753L RP11-286H14.8_ENST00000466717.1_RNA NM_005631.4 NP_005622.1 Q99835 SMO_HUMAN smoothened, frizzled family receptor 753 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 CCCAGTGCACCGGCCCCCGTG 0.647000 Mis skin basal cell 7 15 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105409960 105409960 + Missense_Mutation SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr14:105409960G>C ENST00000333244.5 - 7 11947 c.11828C>G c.(11827-11829)gCc>gGc p.A3943G AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3943 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) ATCCAGCTTGGCTCCTGGGGC 0.612000 95 161 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124210218 124210218 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:124210218T>C ENST00000360013.3 + 31 4757 c.4630T>C c.(4630-4632)Ttc>Ctc p.F1544L KALRN_ENST00000460856.1_Missense_Mutation_p.F1535L|KALRN_ENST00000240874.3_Missense_Mutation_p.F1544L NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1544 PH 1. 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 TCCCTGCAAATTCGCCTTGTG 0.552000 9 20 0 0 1 0 0 DGKA 1606 broad.mit.edu 37 12 56334710 56334710 + Silent SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr12:56334710A>G ENST00000331886.5 + 13 1501 c.1047A>G c.(1045-1047)aaA>aaG p.K349K DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Silent_p.K349K|DGKA_ENST00000551156.1_Silent_p.K349K NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 349 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) AAAATAGCAAAACAAGCCAGA 0.488000 OREG0021913 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 43 0 0 1 0 0 TRPC5 7224 broad.mit.edu 37 X 111090395 111090395 + Missense_Mutation SNP C C A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chrX:111090395C>A ENST00000262839.2 - 6 2565 c.1647G>T c.(1645-1647)gaG>gaT p.E549D NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 549 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 AGTTGTTAGGCTCATCGATAG 0.393000 61 7 5.80444e-35 6.30154e-35 1 1 0 SLC13A4 26266 broad.mit.edu 37 7 135377080 135377080 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr7:135377080A>G ENST00000354042.4 - 11 1900 c.1211T>C c.(1210-1212)tTc>tCc p.F404S C7orf73_ENST00000422968.1_3'UTR NM_012450.2 NP_036582.2 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 4 404 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 CTTTTCAAAGAAAGAATCCCA 0.458000 17 18 0 0 1 0 0 TPH2 121278 broad.mit.edu 37 12 72335387 72335387 + Silent SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr12:72335387A>G ENST00000333850.3 + 2 270 c.129A>G c.(127-129)aaA>aaG p.K43K TPH2_ENST00000546576.1_3'UTR NM_173353.3 NP_775489.2 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 43 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) ACTCTGGCAAAAATGACGACA 0.398000 35 7 0 0 1 0 0 DIP2A 23181 broad.mit.edu 37 21 47969717 47969717 + Silent SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr21:47969717C>T ENST00000318711.7 + 22 2742 c.2559C>T c.(2557-2559)gaC>gaT p.D853D DIP2A_ENST00000400274.1_Silent_p.D848D|DIP2A_ENST00000457905.3_Silent_p.D852D|DIP2A_ENST00000417564.2_Silent_p.D852D|DIP2A_ENST00000427143.2_Silent_p.D788D NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 852 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) TGCTGCACGACGACCGGATTG 0.627000 28 36 0 0 1 0 0 IFRD2 7866 broad.mit.edu 37 3 50327674 50327674 + Silent SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:50327674G>A ENST00000436390.1 - 7 812 c.315C>T c.(313-315)tcC>tcT p.S105S IFRD2_ENST00000417626.2_Silent_p.S105S|IFRD2_ENST00000336089.4_Silent_p.S271S|IFRD2_ENST00000429673.2_Silent_p.S169S|IFRD2_ENST00000484043.1_5'UTR Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 169 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) GGAGTAGGCGGGACGCTAGGG 0.647000 5 12 0 0 1 0 0 SLC43A2 124935 broad.mit.edu 37 17 1494614 1494614 + Missense_Mutation SNP G G C rs140076368 TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr17:1494614G>C ENST00000301335.5 - 8 968 c.880C>G c.(880-882)Ctg>Gtg p.L294V SLC43A2_ENST00000571650.1_Missense_Mutation_p.L294V|SLC43A2_ENST00000412517.3_Missense_Mutation_p.L157V|SLC43A2_ENST00000382147.4_Missense_Mutation_p.L294V|SLC43A2_ENST00000574274.1_5'UTR NM_001284498.1|NM_001284499.1 NP_001271427.1|NP_001271428.1 Q8N370 LAT4_HUMAN solute carrier family 43 (amino acid system L transporter), member 2 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0883) GACAGGCACAGCTTGTGGCCC 0.682000 19 18 0 0 1 0 0 CRYGS 1427 broad.mit.edu 37 3 186257280 186257280 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:186257280T>C ENST00000392499.2 - 3 467 c.128A>G c.(127-129)gAa>gGa p.E43G CRYGS_ENST00000307944.5_Missense_Mutation_p.E43G NM_017541.2 NP_060011.1 P22914 CRBS_HUMAN crystallin, gamma S 43 Beta/gamma crystallin 'Greek key' 1. structural constituent of eye lens endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2) 11 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.5e-22) GBM - Glioblastoma multiforme(93;0.0906) GGTGCCTCCTTCCACTTTAAT 0.478000 36 58 0 0 1 0 0 NKX2-2 4821 broad.mit.edu 37 20 21492642 21492642 + Nonsense_Mutation SNP G G T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr20:21492642G>T ENST00000377142.4 - 2 1097 c.741C>A c.(739-741)taC>taA p.Y247* NKX2-2-AS1_ENST00000549659.1_RNA NM_002509.3 NP_002500.1 O95096 NKX22_HUMAN NK2 homeobox 2 247 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 ACTGGGCGTTGTACTGCATGT 0.657000 8 22 0.000157383 0.000159231 1 1 0 CCDC176 80127 broad.mit.edu 37 14 74489747 74489747 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr14:74489747A>G ENST00000394009.3 + 2 308 c.185A>G c.(184-186)aAa>aGa p.K62R CCDC176_ENST00000489323.1_Intron NM_025057.2 NP_079333.2 coiled-coil domain containing 176 ATACTGGCAAAAAGTAATGAG 0.413000 4 13 0 0 1 0 0 PNMAL1 55228 broad.mit.edu 37 19 46974055 46974055 + Missense_Mutation SNP T T A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:46974055T>A ENST00000313683.10 - 2 543 c.238A>T c.(238-240)Agc>Tgc p.S80C PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Missense_Mutation_p.S80C NM_001103149.1|NM_018215.3 NP_001096619.1|NP_060685.2 Q86V59 PNML1_HUMAN paraneoplastic Ma antigen family-like 1 80 S -> T (in dbSNP:rs12610254). cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) gggatggtgctcagattcaca 0.507000 15 56 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109687526 109687526 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr9:109687526C>G ENST00000277225.5 + 3 1622 c.1333C>G c.(1333-1335)Cct>Gct p.P445A ZNF462_ENST00000457913.1_Missense_Mutation_p.P445A Q96JM2 ZN462_HUMAN zinc finger protein 462 445 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 CCCCTTTTGTCCTTTCCTCAC 0.453000 62 52 0 0 1 0 0 FBXO34 55030 broad.mit.edu 37 14 55817981 55817981 + Silent SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr14:55817981G>A ENST00000313833.4 + 2 1118 c.873G>A c.(871-873)ctG>ctA p.L291L FBXO34_ENST00000440021.1_Silent_p.L291L NM_017943.3 NP_060413.2 Q9NWN3 FBX34_HUMAN F-box protein 34 291 breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3) 22 CTGAGTGCCTGAAGCGGCAGG 0.537000 29 50 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142176343 142176343 + Silent SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr8:142176343C>T ENST00000519811.1 + 12 1678 c.1608C>T c.(1606-1608)tcC>tcT p.S536S DENND3_ENST00000424248.1_Silent_p.S404S|DENND3_ENST00000262585.2_Silent_p.S456S A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 456 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) AAAGAGCCTCCCGGAAGTCCT 0.522000 53 180 0 0 1 0 0 UBE2E3 10477 broad.mit.edu 37 2 181846866 181846866 + Missense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:181846866G>A ENST00000410062.4 + 2 490 c.97G>A c.(97-99)Gaa>Aaa p.E33K UBE2E3_ENST00000392415.2_Missense_Mutation_p.E33K|UBE2E3_ENST00000602710.1_Missense_Mutation_p.E33K|UBE2E3_ENST00000602475.1_Missense_Mutation_p.E33K|UBE2E3_ENST00000602632.1_Missense_Mutation_p.E33K|UBE2E3_ENST00000602959.1_Missense_Mutation_p.E33K NM_006357.2 NP_006348.1 Q969T4 UB2E3_HUMAN ubiquitin-conjugating enzyme E2E 3 33 protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth cytoplasm|nucleolus ATP binding|protein binding|ubiquitin-protein ligase activity breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1) 11 TCCAGAGCCTGAAGAACAAGA 0.507000 49 37 0 0 1 0 0 OR52H1 390067 broad.mit.edu 37 11 5565861 5565861 + Missense_Mutation SNP A A T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr11:5565861A>T ENST00000322653.4 - 1 918 c.893T>A c.(892-894)aTg>aAg p.M298K HBG2_ENST00000380259.2_Intron NM_001005289.1 NP_001005289.1 Q8NGJ2 O52H1_HUMAN olfactory receptor, family 52, subfamily H, member 1 298 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) TCCGTAAACCATGGGGTTGAG 0.428000 17 45 0 0 1 0 0 C11orf49 79096 broad.mit.edu 37 11 47074021 47074021 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr11:47074021T>C ENST00000395460.2 + 3 270 c.232T>C c.(232-234)Ttt>Ctt p.F78L C11orf49_ENST00000378615.3_Missense_Mutation_p.F78L|C11orf49_ENST00000378618.2_Missense_Mutation_p.F78L|C11orf49_ENST00000543718.1_Intron|C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000278460.7_Missense_Mutation_p.F78L|C11orf49_ENST00000536126.1_5'UTR NM_001003676.1 NP_001003676.1 Q9H6J7 CK049_HUMAN chromosome 11 open reading frame 49 78 central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1) 11 TAGGGTATCATTTTTACGGGC 0.453000 30 56 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117663661 117663661 + Missense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr6:117663661G>A ENST00000368508.3 - 28 4769 c.4571C>T c.(4570-4572)tCa>tTa p.S1524L ROS1_ENST00000368507.3_Missense_Mutation_p.S1518L|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1524 Fibronectin type-III 6. 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) CATGTATGTTGAAAATGGTTG 0.274000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 11 20 0 0 1 0 0 KLHL40 131377 broad.mit.edu 37 3 42727138 42727138 + Missense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:42727138G>A ENST00000287777.4 + 1 128 c.28G>A c.(28-30)Gag>Aag p.E10K NM_152393.2 NP_689606.2 kelch-like family member 40 GCAGGCGGAGGAGCAGCGGTT 0.657000 6 3 0 0 1 0 0 UMOD 7369 broad.mit.edu 37 16 20352462 20352462 + Missense_Mutation SNP G G T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr16:20352462G>T ENST00000396134.2 - 8 1750 c.1627C>A c.(1627-1629)Ccc>Acc p.P543T UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000396142.2_Missense_Mutation_p.P510T|UMOD_ENST00000396138.4_Missense_Mutation_p.P559T|UMOD_ENST00000570689.1_Missense_Mutation_p.P510T|UMOD_ENST00000302509.4_Missense_Mutation_p.P510T|UMOD_ENST00000424589.1_Missense_Mutation_p.P543T NM_001278614.1 NP_001265543.1 P07911 UROM_HUMAN uromodulin 510 ZP. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 TTGCTACTGGGTGTGGCATAG 0.542000 7 13 0.00307968 0.00310127 1 1 0 KANK3 256949 broad.mit.edu 37 19 8397948 8397948 + Missense_Mutation SNP T T A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:8397948T>A ENST00000330915.3 - 7 1951 c.1886A>T c.(1885-1887)tAc>tTc p.Y629F KANK3_ENST00000593649.1_Missense_Mutation_p.Y629F NM_198471.2 NP_940873.2 Q6NY19 KANK3_HUMAN KN motif and ankyrin repeat domains 3 629 breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 GGACACACTGTAGTGCAGGGC 0.667000 4 10 0 0 1 0 0 TFDP2 7029 broad.mit.edu 37 3 141697507 141697507 + Missense_Mutation SNP C C A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:141697507C>A ENST00000499676.2 - 7 862 c.191G>T c.(190-192)gGa>gTa p.G64V TFDP2_ENST00000317104.7_Missense_Mutation_p.G48V|TFDP2_ENST00000495310.1_Missense_Mutation_p.G28V|TFDP2_ENST00000486111.1_Missense_Mutation_p.G64V|TFDP2_ENST00000464782.1_5'UTR|TFDP2_ENST00000467072.1_Missense_Mutation_p.G64V|TFDP2_ENST00000397991.4_Missense_Mutation_p.G97V|TFDP2_ENST00000489671.1_Missense_Mutation_p.G125V|TFDP2_ENST00000477292.1_5'UTR|TFDP2_ENST00000310282.6_Missense_Mutation_p.G64V|TFDP2_ENST00000479040.1_Missense_Mutation_p.G64V NM_001178139.1 NP_001171610.1 Q14188 TFDP2_HUMAN transcription factor Dp-2 (E2F dimerization partner 2) 125 I -> T. cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding kidney(1)|upper_aerodigestive_tract(2) 3 ATTTTTATCTCCTTTTTTGCT 0.338000 11 38 6.42651e-13 6.77219e-13 1 1 0 TPST1 8460 broad.mit.edu 37 7 65751532 65751532 + Missense_Mutation SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr7:65751532G>C ENST00000304842.5 + 3 1305 c.880G>C c.(880-882)Gtc>Ctc p.V294L TPST1_ENST00000480281.1_3'UTR NM_003596.3 NP_003587.1 O60507 TPST1_HUMAN tyrosylprotein sulfotransferase 1 294 inflammatory response|peptidyl-tyrosine sulfation Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 AATCAAGCCAGTCAATGTAGG 0.353000 12 34 0 0 1 0 0 NEFH 4744 broad.mit.edu 37 22 29885132 29885132 + Silent SNP A A T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr22:29885132A>T ENST00000310624.6 + 4 1536 c.1503A>T c.(1501-1503)acA>acT p.T501T NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 501 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 aagaagAAACAAAGTCTCCCC 0.542000 14 15 0 0 1 0 0 TTLL5 23093 broad.mit.edu 37 14 76248832 76248832 + Missense_Mutation SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr14:76248832C>T ENST00000298832.9 + 25 2723 c.2518C>T c.(2518-2520)Cac>Tac p.H840Y TTLL5_ENST00000556893.1_Missense_Mutation_p.H391Y|TTLL5_ENST00000557636.1_Missense_Mutation_p.H854Y|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Missense_Mutation_p.H349Y NM_015072.4 NP_055887.3 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 840 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) TATTTCAGATCACCCTGAGAC 0.333000 13 21 0 0 1 0 0 UBA7 7318 broad.mit.edu 37 3 49848455 49848455 + Missense_Mutation SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:49848455C>T ENST00000333486.3 - 10 1350 c.1192G>A c.(1192-1194)Gat>Aat p.D398N NM_003335.2 NP_003326.2 P41226 UBA7_HUMAN ubiquitin-like modifier activating enzyme 7 398 2 approximate repeats. ISG15-protein conjugation|negative regulation of type I interferon production cytosol ATP binding|ISG15 activating enzyme activity|ligase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) AGCTCCCCATCTTCCGGAAGA 0.567000 10 30 0 0 1 0 0 PDE11A 50940 broad.mit.edu 37 2 178936253 178936253 + Splice_Site SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:178936253C>T ENST00000286063.6 - 1 1229 c.912G>A c.(910-912)caG>caA p.Q304Q PDE11A_ENST00000358450.4_Intron NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A GAF 1. 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) AAAGTCCTACCTGGTAGGCAT 0.512000 Primary Pigmented Nodular Adrenocortical Disease, Familial 21 44 0 0 1 0 0 PPAPDC3 84814 broad.mit.edu 37 9 134165467 134165467 + Missense_Mutation SNP C C A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr9:134165467C>A ENST00000372264.3 + 1 387 c.83C>A c.(82-84)cCc>cAc p.P28H PPAPDC3_ENST00000372261.1_Missense_Mutation_p.P28H NM_032728.3 NP_116117.3 Q8NBV4 PPAC3_HUMAN phosphatidic acid phosphatase type 2 domain containing 3 28 endoplasmic reticulum membrane|integral to membrane|nuclear envelope hydrolase activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 all_hematologic(7;0.0119) OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173) CTGAACCAGCCCCCCAAGGGG 0.716000 6 13 0.0293803 0.0293803 1 1 0 CDK17 5128 broad.mit.edu 37 12 96707122 96707122 + Missense_Mutation SNP T T C rs140389429 TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr12:96707122T>C ENST00000261211.3 - 4 997 c.394A>G c.(394-396)Ata>Gta p.I132V CDK17_ENST00000542666.1_Missense_Mutation_p.I79V|CDK17_ENST00000543119.2_Missense_Mutation_p.I132V NM_001170464.2|NM_002595.4 NP_001163935.1|NP_002586.2 Q00537 CDK17_HUMAN cyclin-dependent kinase 17 132 ATP binding|cyclin-dependent protein kinase activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1) 37 CGTCTATGTATACGATTTCTG 0.358000 15 35 0 0 1 0 0 MRVI1 10335 broad.mit.edu 37 11 10626034 10626034 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr11:10626034C>G ENST00000547195.1 - 12 1888 c.1388G>C c.(1387-1389)aGa>aCa p.R463T LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000552103.1_Missense_Mutation_p.R463T|MRVI1_ENST00000423302.2_Missense_Mutation_p.R554T|MRVI1_ENST00000558540.1_Missense_Mutation_p.R239T|MRVI1_ENST00000531107.1_Missense_Mutation_p.R546T|MRVI1_ENST00000545852.1_Missense_Mutation_p.R239T|MRVI1_ENST00000534266.2_Missense_Mutation_p.R239T|MRVI1_ENST00000541483.1_Missense_Mutation_p.R348T|MRVI1_ENST00000421747.1_Missense_Mutation_p.R545T|MRVI1_ENST00000436272.1_Missense_Mutation_p.R527T|MRVI1_ENST00000527509.2_Missense_Mutation_p.R463T|MRVI1_ENST00000424001.1_Missense_Mutation_p.R239T NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 527 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) CTGGTTAATTCTAGATTCCAG 0.463000 20 37 0 0 1 0 0 NISCH 11188 broad.mit.edu 37 3 52521837 52521837 + Missense_Mutation SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:52521837G>C ENST00000345716.4 + 16 2463 c.2329G>C c.(2329-2331)Gag>Cag p.E777Q NISCH_ENST00000479054.1_Missense_Mutation_p.E777Q NM_007184.3 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 777 Interaction with ITGA5 (By similarity).|Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity). apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) CCTCATGCCGGAGCTGTGTCT 0.607000 15 21 0 0 1 0 0 CHST11 50515 broad.mit.edu 37 12 105151088 105151088 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr12:105151088T>C ENST00000303694.5 + 3 1005 c.566T>C c.(565-567)tTc>tCc p.F189S CHST11_ENST00000549260.1_Missense_Mutation_p.F184S NM_018413.5 NP_060883.1 Q9NPF2 CHSTB_HUMAN carbohydrate (chondroitin 4) sulfotransferase 11 189 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1) 18 CGGGAGCCCTTCGAGAGGCTA 0.537000 12 26 0 0 1 0 0 NCOA5 57727 broad.mit.edu 37 20 44697186 44697186 + Missense_Mutation SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr20:44697186C>T ENST00000290231.6 - 4 621 c.457G>A c.(457-459)Gat>Aat p.D153N NM_020967.2 NP_066018.1 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 153 Transcription repression. 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) CCCCGTCCATCAAAGCTATCT 0.428000 21 70 0 0 1 0 0 PLK3 1263 broad.mit.edu 37 1 45269882 45269882 + Missense_Mutation SNP T T A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:45269882T>A ENST00000372201.4 + 11 1545 c.1306T>A c.(1306-1308)Tgt>Agt p.C436S PLK3_ENST00000465443.1_3'UTR NM_004073.2 NP_004064.2 Q9H4B4 PLK3_HUMAN polo-like kinase 3 436 membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) GTCAGCCCTTTGTGCTCTGAG 0.557000 22 88 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42005347 42005347 + Silent SNP G G A rs116840766 TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr7:42005347G>A ENST00000395925.3 - 15 3408 c.3324C>T c.(3322-3324)taC>taT p.Y1108Y GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 1108 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 AGTGCTGCTCGTACCCTGCTT 0.627000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 21 58 0 0 1 0 0 DHTKD1 55526 broad.mit.edu 37 10 12160822 12160822 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr10:12160822A>G ENST00000263035.4 + 15 2539 c.2477A>G c.(2476-2478)aAg>aGg p.K826R NM_018706.5 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 826 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) CTGGGGGCCAAGAAGCATGAC 0.463000 15 278 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 4 98 0 0 1 0 0 CTR9 9646 broad.mit.edu 37 11 10795636 10795636 + Missense_Mutation SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr11:10795636G>C ENST00000361367.2 + 22 3231 c.2805G>C c.(2803-2805)aaG>aaC p.K935N NM_014633.3 NP_055448.1 Q6PD62 CTR9_HUMAN CTR9, Paf1/RNA polymerase II complex component 935 Lys-rich.|Poly-Lys. histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) CCaaaaagaagaagagaagaa 0.393000 15 21 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48621983 48621983 + Missense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:48621983G>A ENST00000328333.8 - 35 4161 c.4054C>T c.(4054-4056)Ccc>Tcc p.P1352S COL7A1_ENST00000454817.1_Missense_Mutation_p.P1352S NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1352 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) ACTTGTCCGGGAGCCCCCTGT 0.587000 27 49 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179451514 179451514 + Nonsense_Mutation SNP T T A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:179451514T>A ENST00000589042.1 - 308 64338 c.64114A>T c.(64114-64116)Aaa>Taa p.K21372* TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.K12432*|TTN_ENST00000460472.2_Nonsense_Mutation_p.K12307*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.K18804*|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.K12499*|TTN_ENST00000591111.1_Nonsense_Mutation_p.K19731* NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19731 Ig-like 113. 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) ACTTCTAATTTCCTTGGGGGA 0.408000 23 35 0 0 1 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28296419 28296419 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr21:28296419A>G ENST00000284987.5 - 8 2867 c.2746T>C c.(2746-2748)Tcc>Ccc p.S916P AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 916 TSP type-1 2. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 GGCCTTTGGGAGAGAGGACAT 0.498000 19 25 0 0 1 0 0 CIAO1 9391 broad.mit.edu 37 2 96936943 96936943 + Missense_Mutation SNP T T G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:96936943T>G ENST00000488633.1 + 7 1093 c.874T>G c.(874-876)Ttc>Gtc p.F292V NM_004804.2 NP_004795.1 O76071 CIAO1_HUMAN cytosolic iron-sulfur protein assembly 1 292 chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter MMXD complex protein binding endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1) 5 GCAGCCCACCTTCTCCCTGAC 0.607000 22 33 0 0 1 0 0 PUM2 23369 broad.mit.edu 37 2 20490541 20490541 + Missense_Mutation SNP G G T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:20490541G>T ENST00000361078.2 - 9 1185 c.1163C>A c.(1162-1164)gCt>gAt p.A388D PUM2_ENST00000403432.1_Missense_Mutation_p.A388D|PUM2_ENST00000338086.5_Missense_Mutation_p.A388D|PUM2_ENST00000319801.5_Missense_Mutation_p.A388D|PUM2_ENST00000536417.1_Missense_Mutation_p.A332D Q8TB72 PUM2_HUMAN pumilio RNA-binding family member 2 388 Ala-rich.|Gln-rich. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACCTGCTCCAGCACGGAGAAC 0.403000 15 57 1.05317e-09 1.09377e-09 1 1 0 BAGE2 85319 broad.mit.edu 37 21 11039057 11039057 + RNA SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr21:11039057C>G ENST00000470054.1 - 0 1146 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTCCATCAATCCAGTAGAAAG 0.393000 36 323 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160086683 160086683 + Silent SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:160086683A>G ENST00000263635.6 + 27 4983 c.4746A>G c.(4744-4746)ttA>ttG p.L1582L TANC1_ENST00000454300.1_Silent_p.L1476L NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 1582 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 CCCAGCATTTAGAGGGAACAG 0.557000 19 24 0 0 1 0 0 SLC36A2 153201 broad.mit.edu 37 5 150701773 150701773 + Silent SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr5:150701773C>G ENST00000335244.4 - 9 1143 c.1014G>C c.(1012-1014)ctG>ctC p.L338L SLC36A2_ENST00000450886.1_Silent_p.L62L|SLC36A2_ENST00000521967.1_Silent_p.L338L NM_181776.2 NP_861441.2 Q495M3 S36A2_HUMAN solute carrier family 36 (proton/amino acid symporter), member 2 338 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGACTGGTACAGCCTGCAAG 0.537000 17 13 0 0 1 0 0 COL4A3BP 10087 broad.mit.edu 37 5 74722266 74722266 + Missense_Mutation SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr5:74722266C>T ENST00000380494.5 - 5 1063 c.770G>A c.(769-771)cGa>cAa p.R257Q COL4A3BP_ENST00000261415.7_Missense_Mutation_p.R129Q|COL4A3BP_ENST00000405807.4_Missense_Mutation_p.R129Q NM_001130105.1 NP_001123577.1 Q9Y5P4 C43BP_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) binding protein 129 ER to Golgi ceramide transport|immune response cytosol|endoplasmic reticulum membrane|Golgi apparatus ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1) 16 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;1e-53) TGAGCCATGTCGACGCAAGCT 0.378000 54 12 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121650524 121650524 + Missense_Mutation SNP T T A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:121650524T>A ENST00000489711.1 + 19 2091 c.1703T>A c.(1702-1704)tTt>tAt p.F568Y SLC15A2_ENST00000295605.2_Missense_Mutation_p.F537Y NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 568 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) GATAAGAACTTTTCTCTGAAT 0.398000 11 49 0 0 1 0 0 OPN1LW 5956 broad.mit.edu 37 X 153420204 153420204 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chrX:153420204C>G ENST00000369951.4 + 4 794 c.734C>G c.(733-735)gCc>gGc p.A245G OPN1LW_ENST00000463296.1_Intron NM_020061.4 NP_064445.2 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 245 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 15 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) GTGTGGCTGGCCATCCGAGCG 0.572000 29 52 0 0 1 0 0 GUCY2F 2986 broad.mit.edu 37 X 108641917 108641917 + Missense_Mutation SNP C C A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chrX:108641917C>A ENST00000218006.2 - 11 2427 c.2136G>T c.(2134-2136)tgG>tgT p.W712C NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 712 Protein kinase. 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 CAGGGGCCGTCCACAGCAGCT 0.463000 16 18 3.52763e-06 3.61142e-06 1 1 0 NEDD8 4738 broad.mit.edu 37 14 24687622 24687622 + Missense_Mutation SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr14:24687622C>T ENST00000250495.5 - 2 220 c.34G>A c.(34-36)Gag>Aag p.E12K NEDD8_ENST00000524927.1_Missense_Mutation_p.E12K|NEDD8-MDP1_ENST00000604306.1_5'UTR|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.E12K NM_006156.2 NP_006147.1 neural precursor cell expressed, developmentally down-regulated 8 breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2) 5 GBM - Glioblastoma multiforme(265;0.0186) ATCTCAATCTCCTTTCCGGTC 0.418000 12 14 0 0 1 0 0 BCAS2 10286 broad.mit.edu 37 1 115110849 115110849 + Missense_Mutation SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:115110849C>T ENST00000369541.3 - 7 627 c.580G>A c.(580-582)Gag>Aag p.E194K BCAS2_ENST00000485021.1_5'UTR NM_005872.2 NP_005863.1 O75934 SPF27_HUMAN breast carcinoma amplified sequence 2 194 mRNA processing|RNA splicing, via transesterification reactions nucleolus|spliceosomal complex protein binding biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4) 13 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) CGTTCAATCTCATAATTCTTA 0.343000 20 80 0 0 1 0 0 LLGL1 3996 broad.mit.edu 37 17 18141407 18141407 + Missense_Mutation SNP T T A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr17:18141407T>A ENST00000316843.4 + 15 2027 c.1931T>A c.(1930-1932)cTg>cAg p.L644Q NM_004140.3 NP_004131 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 (Drosophila) 644 cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_neural(463;0.228) AATGACTCCCTGGCCATGGAG 0.617000 8 12 0 0 1 0 0 PNPLA1 285848 broad.mit.edu 37 6 36270150 36270150 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr6:36270150T>C ENST00000394571.2 + 6 1288 c.1288T>C c.(1288-1290)Tca>Cca p.S430P PNPLA1_ENST00000388715.3_Missense_Mutation_p.S335P|PNPLA1_ENST00000312917.5_Missense_Mutation_p.S344P NM_001145717.1 NP_001139189.2 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 430 Pro-rich. lipid catabolic process hydrolase activity breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 22 CCTGGGGCCTTCAACTGTGGG 0.587000 OREG0017382 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 80 0 0 1 0 0 OR8J3 81168 broad.mit.edu 37 11 55905105 55905105 + Silent SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr11:55905105G>A ENST00000301529.1 - 1 89 c.90C>T c.(88-90)gtC>gtT p.V30V NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) GCACTAGGAAGACCAGGAAGA 0.498000 31 61 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9015691 9015691 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:9015691T>C ENST00000397910.4 - 29 38335 c.38132A>G c.(38131-38133)aAg>aGg p.K12711R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12713 SEA 5. 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 CTCCTCGTACTTCAGGTTGGT 0.512000 30 68 0 0 1 0 0 TMC4 147798 broad.mit.edu 37 19 54673379 54673379 + Missense_Mutation SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:54673379C>T ENST00000376591.4 - 3 462 c.331G>A c.(331-333)Gac>Aac p.D111N TMC4_ENST00000301187.4_Missense_Mutation_p.D105N|TMC4_ENST00000476013.2_5'UTR NM_001145303.1|NM_144686.2 NP_001138775|NP_653287.2 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 111 integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) ACCACCTGGTCCCTGCTGGCA 0.552000 9 73 0 0 1 0 0 STEAP4 79689 broad.mit.edu 37 7 87908751 87908751 + Silent SNP T T G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr7:87908751T>G ENST00000380079.4 - 5 1443 c.1342A>C c.(1342-1344)Agg>Cgg p.R448R AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Silent_p.R272R|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA NM_001205315.1|NM_024636.3 NP_001192244.1|NP_078912.2 Q687X5 STEA4_HUMAN STEAP family member 4 448 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) TGGCGGATCCTTGTAAGGGTG 0.413000 16 26 0 0 1 0 0 RNF139 11236 broad.mit.edu 37 8 125499112 125499112 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr8:125499112T>C ENST00000303545.3 + 2 1594 c.1222T>C c.(1222-1224)Tat>Cat p.Y408H NM_007218.3 NP_009149.2 Q8WU17 RN139_HUMAN ring finger protein 139 408 negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1) 20 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CTTACTCAGTTATGTTCTTTG 0.378000 7 274 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118512702 118512702 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:118512702T>C ENST00000336338.5 - 46 6429 c.6364A>G c.(6364-6366)Aaa>Gaa p.K2122E NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 2122 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TAAGTCACTTTCAGTCCTGTG 0.418000 4 67 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6191772 6191772 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:6191772C>G ENST00000262450.3 - 21 3280 c.3181G>C c.(3181-3183)Gag>Cag p.E1061Q CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1061 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) CCTTCGTACTCCAGGAAGTCC 0.612000 8 30 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150171306 150171306 + Nonsense_Mutation SNP A A T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr7:150171306A>T ENST00000307271.3 + 4 1463 c.889A>T c.(889-891)Aaa>Taa p.K297* NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 297 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) GAGAAAAAAGAAAGTTTCGAT 0.468000 17 35 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882688 228882688 + Missense_Mutation SNP G G T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:228882688G>T ENST00000392056.3 - 7 2928 c.2882C>A c.(2881-2883)gCa>gAa p.A961E SPHKAP_ENST00000344657.5_Missense_Mutation_p.A961E NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 961 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) TCTTTTCCATGCACAAAACCA 0.512000 17 57 3.45872e-05 3.51582e-05 1 1 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 36 0 0 1 0 0 TTC18 118491 broad.mit.edu 37 10 75051135 75051135 + Silent SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr10:75051135C>T ENST00000401621.2 - 20 2418 c.2298G>A c.(2296-2298)caG>caA p.Q766Q TTC18_ENST00000355577.3_Silent_p.Q235Q|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000394865.1_Silent_p.Q766Q|TTC18_ENST00000310715.3_Silent_p.Q766Q Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 766 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) GTGCCTGAAGCTGTTTGGAGG 0.408000 25 55 0 0 1 0 0 KDELC1 79070 broad.mit.edu 37 13 103445705 103445705 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr13:103445705A>G ENST00000376004.4 - 4 994 c.658T>C c.(658-660)Tct>Cct p.S220P KDELC1_ENST00000460338.1_5'UTR NM_024089.2 NP_076994.2 Q6UW63 KDEL1_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 1 220 endoplasmic reticulum lumen central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CTAGTCAAAGAAAGTAGTATG 0.269000 28 92 0 0 1 0 0 TMEM190 147744 broad.mit.edu 37 19 55889456 55889456 + Missense_Mutation SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:55889456C>T ENST00000291934.3 + 5 437 c.419C>T c.(418-420)tCc>tTc p.S140F CTD-2105E13.15_ENST00000595064.1_RNA NM_139172.1 NP_631911.1 Q8WZ59 TM190_HUMAN transmembrane protein 190 140 integral to membrane large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 5 Breast(117;0.191) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) AAGACGCCGTCCACGGGCAGC 0.657000 14 36 0 0 1 0 0 SH3GLB1 51100 broad.mit.edu 37 1 87200814 87200814 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:87200814A>G ENST00000370558.4 + 7 1037 c.713A>G c.(712-714)tAt>tGt p.Y238C SH3GLB1_ENST00000535010.1_Missense_Mutation_p.Y138C|SH3GLB1_ENST00000482504.1_Missense_Mutation_p.Y259C 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 238 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) ATGACTTACTATGCACAGTGT 0.373000 31 110 0 0 1 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64595050 64595050 + Missense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr11:64595050G>A ENST00000342711.5 - 32 4098 c.4099C>T c.(4099-4101)Ctc>Ttc p.L1367F NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 1367 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 GTGCCGTAGAGGAACAGGGAG 0.682000 7 5 0 0 1 0 0 RAD54B 25788 broad.mit.edu 37 8 95392458 95392458 + Missense_Mutation SNP T T A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr8:95392458T>A ENST00000336148.5 - 12 2286 c.2162A>T c.(2161-2163)aAa>aTa p.K721I NM_012415.3 NP_036547.1 O95073 FSBP_HUMAN RAD54 homolog B (S. cerevisiae) 0 double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) ACCACCAGCTTTTGAACTTAA 0.373000 Direct reversal of damage;Homologous recombination 12 33 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33156831 33156831 + Silent SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr6:33156831G>A ENST00000341947.2 - 3 594 c.367C>T c.(367-369)Ctg>Ttg p.L123L COL11A2_ENST00000374712.1_Silent_p.L123L|COL11A2_ENST00000374714.1_Silent_p.L123L|COL11A2_ENST00000395197.1_Silent_p.L123L|COL11A2_ENST00000374713.1_Silent_p.L123L|COL11A2_ENST00000357486.1_Silent_p.L123L|COL11A2_ENST00000395194.1_Silent_p.L123L|COL11A2_ENST00000361917.1_Silent_p.L123L|COL11A2_ENST00000374708.4_Silent_p.L123L NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 123 TSP N-terminal. 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 TCTTCATACAGGAAGCGGACA 0.622000 23 78 0 0 1 0 0 SLK 9748 broad.mit.edu 37 10 105750520 105750520 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr10:105750520A>G ENST00000369755.3 + 2 783 c.238A>G c.(238-240)Att>Gtt p.I80V SLK_ENST00000335753.4_Missense_Mutation_p.I80V NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 80 Protein kinase. apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) CATGGTAGAGATTGACATATT 0.353000 3 60 0 0 1 0 0 STAG1 10274 broad.mit.edu 37 3 136139968 136139968 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:136139968A>G ENST00000383202.2 - 20 2331 c.2075T>C c.(2074-2076)cTt>cCt p.L692P STAG1_ENST00000536929.1_Missense_Mutation_p.L276P|STAG1_ENST00000434713.2_Missense_Mutation_p.L466P|STAG1_ENST00000236698.5_Missense_Mutation_p.L692P NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 692 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 TAATGTAGAAAGAACATTGTA 0.338000 27 100 0 0 1 0 0 HIPK3 10114 broad.mit.edu 37 11 33308034 33308034 + Missense_Mutation SNP A A C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr11:33308034A>C ENST00000303296.4 + 2 379 c.74A>C c.(73-75)aAa>aCa p.K25T HIPK3_ENST00000456517.1_Missense_Mutation_p.K25T|HIPK3_ENST00000525975.1_Missense_Mutation_p.K25T|HIPK3_ENST00000379016.3_Missense_Mutation_p.K25T NM_005734.3 NP_005725.3 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 25 anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 39 AGTGTGAAGAAACTCAAAGTA 0.393000 5 33 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142178608 142178608 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr8:142178608C>G ENST00000519811.1 + 13 2329 c.2259C>G c.(2257-2259)ttC>ttG p.F753L DENND3_ENST00000424248.1_Missense_Mutation_p.F621L|DENND3_ENST00000262585.2_Missense_Mutation_p.F673L A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 673 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) ACCGGCTGTTCGAGGCCTTGA 0.557000 11 49 0 0 1 0 0 ANGPTL4 51129 broad.mit.edu 37 19 8431137 8431137 + Nonsense_Mutation SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:8431137C>T ENST00000301455.2 + 3 652 c.481C>T c.(481-483)Cga>Tga p.R161* ANGPTL4_ENST00000393962.2_Nonsense_Mutation_p.R161*|ANGPTL4_ENST00000541807.1_5'UTR NM_139314.1 NP_647475.1 Q9BY76 ANGL4_HUMAN angiopoietin-like 4 161 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 CAAGCCTGCCCGAAGAAAGAG 0.652000 10 23 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 150876567 150876567 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:150876567T>C ENST00000474524.1 + 6 856 c.818T>C c.(817-819)tTg>tCg p.L273S MED12L_ENST00000309237.4_Missense_Mutation_p.L273S|MED12L_ENST00000422248.2_Missense_Mutation_p.L273S|MED12L_ENST00000273432.4_Missense_Mutation_p.L273S NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 273 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) CTTAAACTCTTGCTACCACTA 0.383000 6 26 0 0 1 0 0 TDRD7 23424 broad.mit.edu 37 9 100222922 100222922 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr9:100222922A>G ENST00000355295.4 + 7 1613 c.1318A>G c.(1318-1320)Agc>Ggc p.S440G TDRD7_ENST00000422139.2_Missense_Mutation_p.S366G NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 440 Lotus/OST-HTH 3. lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) GGTAGAAGAAAGCATTGCTGA 0.413000 13 101 0 0 1 0 0 LEPROT 54741 broad.mit.edu 37 1 65895677 65895677 + Silent SNP T T A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:65895677T>A ENST00000371065.4 + 3 363 c.225T>A c.(223-225)acT>acA p.T75T LEPR_ENST00000344610.8_Intron|LEPR_ENST00000349533.6_Intron|LEPR_ENST00000371059.3_Intron|LEPROT_ENST00000484243.1_3'UTR|LEPR_ENST00000371060.3_Intron|LEPR_ENST00000406510.3_Intron NM_001198681.1|NM_017526.4 NP_001185610.1|NP_059996.1 O15243 OBRG_HUMAN leptin receptor overlapping transcript 75 endosome membrane|Golgi membrane|integral to plasma membrane kidney(1)|large_intestine(1)|lung(5) 7 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TCTTCACTACTGGAATTGTTG 0.448000 61 197 0 0 1 0 0 KIAA2026 158358 broad.mit.edu 37 9 5921972 5921972 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr9:5921972T>C ENST00000399933.3 - 8 4023 c.4024A>G c.(4024-4026)Aca>Gca p.T1342A KIAA2026_ENST00000381461.2_Missense_Mutation_p.T1312A NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 1342 Ser-rich. breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) AGACTAGATGTAGTAGTTGTT 0.428000 53 73 0 0 1 0 0 COQ2 27235 broad.mit.edu 37 4 84205926 84205926 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr4:84205926T>C ENST00000311469.4 - 1 141 c.142A>G c.(142-144)Acc>Gcc p.T48A COQ2_ENST00000439031.2_Missense_Mutation_p.T11A NM_015697.7 NP_056512.5 Q96H96 COQ2_HUMAN coenzyme Q2 4-hydroxybenzoate polyprenyltransferase 0 glycerol metabolic process|isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrial membrane 4-hydroxybenzoate decaprenyltransferase activity|4-hydroxybenzoate nonaprenyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1) 8 Hepatocellular(203;0.114) ATGGCGCTGGTGAGGCCGGGA 0.736000 5 2 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56321312 56321312 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:56321312T>C ENST00000443188.1 - 5 1374 c.664A>G c.(664-666)Aag>Gag p.K222E NLRP11_ENST00000592953.1_Missense_Mutation_p.K123E|NLRP11_ENST00000589093.1_Missense_Mutation_p.K222E|NLRP11_ENST00000360133.3_Missense_Mutation_p.K222E|NLRP11_ENST00000589824.2_Missense_Mutation_p.K222E NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 222 NACHT. ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) AGGAGTTTCTTGGGATCAGAC 0.473000 15 53 0 0 1 0 0 AGGF1 55109 broad.mit.edu 37 5 76335496 76335496 + Silent SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr5:76335496G>A ENST00000312916.7 + 5 1204 c.822G>A c.(820-822)ttG>ttA p.L274L NM_018046.4 NP_060516.2 Q8N302 AGGF1_HUMAN angiogenic factor with G patch and FHA domains 1 274 angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 20 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) ATAAAAAATTGAAGAAGAAAA 0.308000 11 41 0 0 1 0 0 CDIPT 10423 broad.mit.edu 37 16 29873943 29873943 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr16:29873943C>G ENST00000219789.6 - 2 1020 c.142G>C c.(142-144)Gct>Cct p.A48P CDIPT_ENST00000566113.1_Intron|CDIPT_ENST00000570016.1_Missense_Mutation_p.A48P|CDIPT_ENST00000569956.1_Missense_Mutation_p.A48P|CDIPT_ENST00000563415.1_Missense_Mutation_p.A48P NM_006319.3 NP_006310.1 O14735 CDIPT_HUMAN CDP-diacylglycerol--inositol 3-phosphatidyltransferase 48 endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity endometrium(1)|lung(3) 4 CCATCGAAAGCGTCCAGCAGG 0.587000 3 3 0 0 1 0 0 SCG2 7857 broad.mit.edu 37 2 224463616 224463616 + Missense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:224463616G>A ENST00000305409.2 - 2 617 c.385C>T c.(385-387)Cca>Tca p.P129S NM_003469.4 NP_003460.2 P13521 SCG2_HUMAN secretogranin II 129 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) TTTTCTTTTGGTGCAGACTGA 0.428000 39 83 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34671569 34671569 + Missense_Mutation SNP G G T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr10:34671569G>T ENST00000374789.3 - 9 1623 c.1298C>A c.(1297-1299)tCc>tAc p.S433Y PARD3_ENST00000374776.1_Missense_Mutation_p.S433Y|PARD3_ENST00000374773.1_Missense_Mutation_p.S433Y|PARD3_ENST00000346874.4_Missense_Mutation_p.S433Y|PARD3_ENST00000545260.1_Missense_Mutation_p.S389Y|PARD3_ENST00000545693.1_Missense_Mutation_p.S433Y|PARD3_ENST00000350537.4_Missense_Mutation_p.S433Y|PARD3_ENST00000374790.3_Missense_Mutation_p.S389Y|PARD3_ENST00000340077.5_Missense_Mutation_p.S433Y|PARD3_ENST00000374788.3_Missense_Mutation_p.S433Y|PARD3_ENST00000374794.3_Missense_Mutation_p.S389Y|PARD3_ENST00000544292.1_Missense_Mutation_p.S163Y NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 433 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) GGCTGGAGCGGATGGTGGTTT 0.502000 41 53 3.38236e-24 3.64449e-24 1 1 0 MED13L 23389 broad.mit.edu 37 12 116450611 116450611 + Missense_Mutation SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr12:116450611G>C ENST00000281928.3 - 9 1477 c.1271C>G c.(1270-1272)tCt>tGt p.S424C NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 424 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) CCTGGAACAAGAACAGCTGAC 0.438000 36 112 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42477235 42477235 + Missense_Mutation SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr17:42477235C>T ENST00000434000.1 - 9 2258 c.1976G>A c.(1975-1977)gGg>gAg p.G659E GPATCH8_ENST00000591680.1_Missense_Mutation_p.G737E Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 737 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) ACTGCCACTCCCAGGGGGTTC 0.537000 28 69 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70805493 70805493 + Missense_Mutation SNP G G T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr5:70805493G>T ENST00000358731.4 + 17 2837 c.2574G>T c.(2572-2574)aaG>aaT p.K858N BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 858 9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) CCTCACCAAAGGAGATGGTAC 0.418000 22 40 1.9806e-07 2.03247e-07 1 1 0 AMOT 154796 broad.mit.edu 37 X 112058693 112058693 + Missense_Mutation SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chrX:112058693C>T ENST00000371959.3 - 2 1284 c.1285G>A c.(1285-1287)Gcc>Acc p.A429T AMOT_ENST00000524145.1_Missense_Mutation_p.A429T|AMOT_ENST00000371962.1_Missense_Mutation_p.A197T|AMOT_ENST00000304758.1_Missense_Mutation_p.A20T|AMOT_ENST00000371958.1_Missense_Mutation_p.A197T NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 429 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 GAAACAATGGCAAAAGGGTCT 0.547000 48 67 0 0 1 0 0 SHH 6469 broad.mit.edu 37 7 155596378 155596378 + Missense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr7:155596378G>A ENST00000297261.2 - 3 755 c.605C>T c.(604-606)tCg>tTg p.S202L NM_000193.2 NP_000184.1 Q15465 SHH_HUMAN sonic hedgehog 202 androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development cell surface|extracellular space|membrane raft|plasma membrane calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00882) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CACCGTGGCCGAGCCCGGGAA 0.682000 10 9 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 180080183 180080183 + Missense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:180080183G>A ENST00000367607.3 + 38 9659 c.9241G>A c.(9241-9243)Gag>Aag p.E3081K CEP350_ENST00000490141.1_3'UTR NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 3081 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 TGATGAGGATGAGTTGTGTGT 0.433000 9 23 0 0 1 0 0 PLEKHA8P1 51054 broad.mit.edu 37 12 45567171 45567171 + RNA SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr12:45567171C>G ENST00000256692.5 - 0 1514 NR_037144.1 breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CATGGTGTTGCCGCAATGTTT 0.443000 45 24 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23545076 23545076 + Missense_Mutation SNP A A C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:23545076A>C ENST00000300619.7 - 4 910 c.705T>G c.(703-705)gaT>gaG p.D235E ZNF91_ENST00000397082.2_Missense_Mutation_p.D203E|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 235 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TGTAGGGTTTATCTTCAGTAT 0.343000 14 63 0 0 1 0 0 IRS1 3667 broad.mit.edu 37 2 227660100 227660100 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:227660100A>G ENST00000305123.5 - 1 4375 c.3355T>C c.(3355-3357)Ttt>Ctt p.F1119L NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) CCCGCTCCAAAGGGCACTGTG 0.622000 22 31 0 0 1 0 0 ZNF709 163051 broad.mit.edu 37 19 12576368 12576368 + Missense_Mutation SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:12576368G>C ENST00000397732.3 - 4 539 c.368C>G c.(367-369)tCt>tGt p.S123C ZNF709_ENST00000428311.1_Missense_Mutation_p.S123C|CTD-3105H18.18_ENST00000598753.1_Intron NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 TTCAGTATGAGATCTCATGTG 0.328000 25 40 0 0 1 0 0 ASB14 142686 broad.mit.edu 37 3 57312500 57312500 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:57312500C>G ENST00000487349.1 - 8 1456 c.1336G>C c.(1336-1338)Gac>Cac p.D446H ASB14_ENST00000389601.3_Missense_Mutation_p.D446H NM_001142733.2|NM_130387.5 NP_001136205.2|NP_569058.1 A6NK59 ASB14_HUMAN ankyrin repeat and SOCS box containing 14 446 intracellular signal transduction central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2) 5 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) CGCTCTGTGTCATACCCATAG 0.423000 32 57 0 0 1 0 0 UAP1L1 91373 broad.mit.edu 37 9 139975312 139975312 + Silent SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr9:139975312C>G ENST00000409858.3 + 7 1382 c.1350C>G c.(1348-1350)ctC>ctG p.L450L UAP1L1_ENST00000360271.3_Silent_p.L327L NM_207309.2 NP_997192.2 Q3KQV9 UAP1L_HUMAN UDP-N-acteylglucosamine pyrophosphorylase 1-like 1 450 nucleotidyltransferase activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) GGGCCTGGCTCCCAGAGCTGC 0.697000 11 14 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44019282 44019282 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:44019282A>G ENST00000359947.4 + 4 551 c.211A>G c.(211-213)Aag>Gag p.K71E PTPRF_ENST00000372413.3_Missense_Mutation_p.K71E|PTPRF_ENST00000438120.1_Missense_Mutation_p.K71E|PTPRF_ENST00000372414.3_Missense_Mutation_p.K71E NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 71 Ig-like C2-type 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) GAAGAAGGGGAAGAAAGTCAG 0.607000 9 159 0 0 1 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27537958 27537958 + RNA SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr10:27537958T>C ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA GTTAAAGCCTTATTTTGGGCG 0.493000 46 177 0 0 1 0 0 PRCC 5546 broad.mit.edu 37 1 156756405 156756405 + Silent SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:156756405C>G ENST00000271526.4 + 3 794 c.522C>G c.(520-522)tcC>tcG p.S174S PRCC_ENST00000353233.3_Silent_p.S174S|PRCC_ENST00000491853.1_3'UTR NM_005973.4 NP_005964.3 Q92733 PRCC_HUMAN papillary renal cell carcinoma (translocation-associated) 174 cell cycle|mitotic cell cycle checkpoint nucleus protein binding PRCC/TFE3(25) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1) 15 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) ACCAGGGATCCAGTGAGGGGA 0.478000 T TFE3 papillary renal 25 13 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101433738 101433738 + Silent SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr12:101433738T>C ENST00000392979.3 + 10 1159 c.798T>C c.(796-798)agT>agC p.S266S ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Silent_p.S301S NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 301 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 CCCAGGGAAGTTATAGAAGTA 0.453000 HNSCC(74;0.22) 24 77 0 0 1 0 0 IGKV1D-13 28902 broad.mit.edu 37 2 90193213 90193213 + RNA SNP C C A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:90193213C>A ENST00000390275.2 + 0 320 ACTTGCCGGGCAAGTCAGGGC 0.527000 36 167 1.34479e-40 1.46364e-40 1 1 0 HEG1 57493 broad.mit.edu 37 3 124720767 124720767 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:124720767T>C ENST00000311127.4 - 11 3513 c.3446A>G c.(3445-3447)aAa>aGa p.K1149R NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 1149 extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 GTTGACACATTTCTGCATCCT 0.532000 6 17 0 0 1 0 0 DHX38 9785 broad.mit.edu 37 16 72130344 72130344 + Silent SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr16:72130344C>T ENST00000268482.3 + 2 797 c.288C>T c.(286-288)ggC>ggT p.G96G DHX38_ENST00000536867.1_Silent_p.G96G NM_014003.3 NP_054722.2 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 96 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) AGGAAGAGGGCGGTGACCAGG 0.527000 4 11 0 0 1 0 0 MYOF 26509 broad.mit.edu 37 10 95159171 95159171 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr10:95159171T>C ENST00000371501.4 - 13 1321 c.1199A>G c.(1198-1200)gAa>gGa p.E400G MYOF_ENST00000371489.1_Missense_Mutation_p.E400G|MYOF_ENST00000359263.4_Missense_Mutation_p.E400G|MYOF_ENST00000358334.5_Missense_Mutation_p.E400G|MYOF_ENST00000371502.4_Missense_Mutation_p.E400G Q9NZM1 MYOF_HUMAN myoferlin 400 C2 3. blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 AAAGGAAACTTCTACAAAAGG 0.363000 6 27 0 0 1 0 0 AP1B1 162 broad.mit.edu 37 22 29734998 29734998 + Nonsense_Mutation SNP G G T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr22:29734998G>T ENST00000357586.2 - 16 2330 c.2144C>A c.(2143-2145)tCa>tAa p.S715* AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000317368.7_Nonsense_Mutation_p.S708*|AP1B1_ENST00000356015.2_Nonsense_Mutation_p.S708*|AP1B1_ENST00000415447.1_Nonsense_Mutation_p.S708*|AP1B1_ENST00000432560.2_Nonsense_Mutation_p.S708*|AP1B1_ENST00000405198.1_Nonsense_Mutation_p.S715*|AP1B1_ENST00000402502.1_Nonsense_Mutation_p.S708* NM_001127.3 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1, beta 1 subunit 715 Pro-rich (stalk region). 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 protein binding|protein transporter activity endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GGCCACATATGATCCTGACAG 0.562000 48 82 6.08268e-21 6.5053e-21 1 1 0 FAM83G 644815 broad.mit.edu 37 17 18907196 18907196 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr17:18907196C>G ENST00000388995.6 - 2 382 c.159G>C c.(157-159)gaG>gaC p.E53D SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.E53D|FAM83G_ENST00000585154.2_Missense_Mutation_p.E53D|SLC5A10_ENST00000417251.2_Intron A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 53 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 CTCGGATGTTCTCCCGCTTGA 0.667000 15 33 0 0 1 0 0 ZNF711 7552 broad.mit.edu 37 X 84519436 84519436 + Splice_Site SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chrX:84519436G>C ENST00000360700.4 + 5 1664 c.778G>C c.(778-780)Ggt>Cgt p.G260R ZNF711_ENST00000373165.3_Splice_Site_p.G260R|ZNF711_ENST00000276123.3_Splice_Site_p.G260R|ZNF711_ENST00000395402.1_Splice_Site_p.G238R|ZNF711_ENST00000542798.1_Splice_Site_p.G56R Q9Y462 ZN711_HUMAN zinc finger protein 711 260 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 TGTTGAAATAGGTACAAACAC 0.313000 9 16 0 0 1 0 0 GDAP1 54332 broad.mit.edu 37 8 75275250 75275250 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr8:75275250T>C ENST00000220822.7 + 5 736 c.656T>C c.(655-657)gTt>gCt p.V219A GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Missense_Mutation_p.V151A NM_001040875.2|NM_018972.2 NP_001035808.1|NP_061845.2 Q8TB36 GDAP1_HUMAN ganglioside induced differentiation associated protein 1 219 GST C-terminal. cytoplasm endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Breast(64;0.00769) Myeloproliferative disorder(644;0.0122) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234) TTGGATCAGGTTGAAACTGAA 0.333000 66 89 0 0 1 0 0 CLEC4F 165530 broad.mit.edu 37 2 71036485 71036485 + Missense_Mutation SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:71036485C>T ENST00000272367.2 - 7 1764 c.1688G>A c.(1687-1689)aGa>aAa p.R563K CLEC4F_ENST00000426626.1_Intron NM_001258027.1|NM_173535.2 NP_001244956.1|NP_775806.2 Q8N1N0 CLC4F_HUMAN C-type lectin domain family 4, member F 563 C-type lectin. endocytosis integral to membrane receptor activity|sugar binding endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 AATATACTTTCTGAGTGGGCA 0.527000 3 7 0 0 1 0 0 CAPN15 6650 broad.mit.edu 37 16 601362 601362 + Silent SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr16:601362G>A ENST00000219611.2 + 8 2490 c.2127G>A c.(2125-2127)gaG>gaA p.E709E LA16c-366D1.3_ENST00000565879.1_RNA NM_005632.2 NP_005623.1 calpain 15 CGGCCTACGAGAGCCTGGGCC 0.687000 15 15 0 0 1 0 0 FUK 197258 broad.mit.edu 37 16 70497655 70497655 + Missense_Mutation SNP T T G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr16:70497655T>G ENST00000288078.6 + 3 444 c.212T>G c.(211-213)cTg>cGg p.L71R FUK_ENST00000571514.1_Intron|FUK_ENST00000428974.2_Missense_Mutation_p.L71R|FUK_ENST00000378912.2_Missense_Mutation_p.L71R NM_145059.2 NP_659496.2 Q8N0W3 FUK_HUMAN fucokinase 71 cytoplasm ATP binding|fucokinase activity p.L71P(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2) 23 Ovarian(137;0.0694) GCTGAACACCTGAGTGCCCGG 0.637000 8 7 0 0 1 0 0 AGAP2 116986 broad.mit.edu 37 12 58124378 58124378 + Silent SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr12:58124378T>C ENST00000257897.3 - 12 1405 c.1320A>G c.(1318-1320)ccA>ccG p.P440P AGAP2_ENST00000547588.1_Silent_p.P776P NM_014770.3 NP_055585.1 Q99490 AGAP2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 776 G domain. axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 GGCTAGGGCTTGGCATGGGAG 0.567000 24 61 0 0 1 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52924025 52924025 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:52924025T>C ENST00000371544.3 - 20 3680 c.3418A>G c.(3418-3420)Atc>Gtc p.I1140V ZCCHC11_ENST00000257177.4_Missense_Mutation_p.I1140V NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 1140 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 AGAACTGGGATAACAGGTGGC 0.383000 13 68 0 0 1 0 0 SCAF11 9169 broad.mit.edu 37 12 46316346 46316346 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr12:46316346T>C ENST00000465950.1 - 4 4409 c.3200A>G c.(3199-3201)aAa>aGa p.K1067R SCAF11_ENST00000369367.3_Missense_Mutation_p.K1382R|SCAF11_ENST00000419565.2_Missense_Mutation_p.K1382R|SCAF11_ENST00000550629.1_5'UTR|SCAF11_ENST00000549162.1_Missense_Mutation_p.K1190R Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 1382 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 TTGTGCTGCTTTTTCTTGAAT 0.308000 16 21 0 0 1 0 0 C9orf96 169436 broad.mit.edu 37 9 136256517 136256517 + Silent SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr9:136256517G>C ENST00000371957.3 + 7 635 c.528G>C c.(526-528)ctG>ctC p.L176L C9orf96_ENST00000371955.1_5'UTR NM_153710.3 NP_714921.4 Q8NE28 SGK71_HUMAN chromosome 9 open reading frame 96 176 Protein kinase. ATP binding|protein kinase activity autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2) 25 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) TGCAGGACCTGAGTTCCAATG 0.547000 90 232 0 0 1 0 0 ETV1 2115 broad.mit.edu 37 7 13946145 13946145 + Silent SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr7:13946145A>G ENST00000343495.5 - 11 1704 c.966T>C c.(964-966)ttT>ttC p.F322F ETV1_ENST00000403685.1_Silent_p.F322F|ETV1_ENST00000405358.4_Silent_p.F354F|ETV1_ENST00000430479.1_Silent_p.F340F|ETV1_ENST00000405218.2_Silent_p.F340F|ETV1_ENST00000403527.1_Silent_p.F300F|ETV1_ENST00000399357.3_Silent_p.F237F|ETV1_ENST00000242066.5_Silent_p.F322F|ETV1_ENST00000405192.2_Silent_p.F317F|ETV1_ENST00000420159.2_Silent_p.F282F P50549 ETV1_HUMAN ets variant 1 340 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 GAGCTACCAAAAACTGCCAGA 0.423000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 10 3 0 0 1 0 0 RPL26L1 51121 broad.mit.edu 37 5 172395499 172395499 + Missense_Mutation SNP A A T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr5:172395499A>T ENST00000521476.1 + 3 330 c.206A>T c.(205-207)aAg>aTg p.K69M RPL26L1_ENST00000519974.1_Missense_Mutation_p.K69M|RPL26L1_ENST00000519239.1_Missense_Mutation_p.K69M|RPL26L1_ENST00000265100.2_Missense_Mutation_p.K69M Q9UNX3 RL26L_HUMAN ribosomal protein L26-like 1 69 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit structural constituent of ribosome breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1) 7 Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CAAATTGGCAAGGTAGTCCAG 0.473000 36 92 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103074454 103074454 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr11:103074454C>G ENST00000375735.2 + 51 8404 c.8260C>G c.(8260-8262)Caa>Gaa p.Q2754E DYNC2H1_ENST00000398093.3_Missense_Mutation_p.Q2754E|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2754 AAA 4 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) ACTTAAGGATCAAGCTTCACA 0.318000 10 23 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113871484 113871484 + Missense_Mutation SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr8:113871484C>T ENST00000297405.5 - 11 1889 c.1645G>A c.(1645-1647)Ggc>Agc p.G549S CSMD3_ENST00000343508.3_Missense_Mutation_p.G509S|CSMD3_ENST00000352409.3_Missense_Mutation_p.G549S|CSMD3_ENST00000455883.2_Missense_Mutation_p.G445S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 549 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 AGATTAGAGCCACACGTTTTC 0.358000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 14 40 0 0 1 0 0 TUBA1A 7846 broad.mit.edu 37 12 49580178 49580178 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr12:49580178T>C ENST00000301071.7 - 3 634 c.290A>G c.(289-291)gAa>gGa p.E97G TUBA1A_ENST00000295766.5_Missense_Mutation_p.E97G|TUBA1A_ENST00000546918.1_Missense_Mutation_p.K148E|TUBA1A_ENST00000550767.1_Missense_Mutation_p.E62G NM_001270400.1|NM_006009.3 NP_001257329.1|NP_006000.2 Q71U36 TBA1A_HUMAN tubulin, alpha 1a 97 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|structural molecule activity stomach(1)|upper_aerodigestive_tract(1) 2 GGCAGCATCTTCTTTGCCTGT 0.527000 6 108 0 0 1 0 0 H6PD 9563 broad.mit.edu 37 1 9324446 9324446 + Missense_Mutation SNP A A G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr1:9324446A>G ENST00000377403.2 + 5 2196 c.1894A>G c.(1894-1896)Aac>Gac p.N632D H6PD_ENST00000602477.1_Missense_Mutation_p.N643D NM_001282587.1|NM_004285.3 NP_001269516.1|NP_004276.2 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 632 6-phosphogluconolactonase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) CCCGGAGTCCAACTTCCAGGG 0.667000 9 29 0 0 1 0 0 RRAGB 10325 broad.mit.edu 37 X 55784734 55784734 + Silent SNP G G C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chrX:55784734G>C ENST00000374941.4 + 10 1588 c.999G>C c.(997-999)ctG>ctC p.L333L RRAGB_ENST00000262850.7_Silent_p.L361L NM_006064.4 NP_006055.3 Q5VZM2 RRAGB_HUMAN Ras-related GTP binding B 361 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction Golgi apparatus|lysosome|nucleus GTP binding|protein binding p.L361L(1) breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1) 14 TTGAAAAGCTGGAAAGAGTGG 0.423000 9 10 0 0 1 0 0 INPP5D 3635 broad.mit.edu 37 2 233925207 233925207 + Missense_Mutation SNP C C A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:233925207C>A ENST00000359570.5 + 1 19 c.19C>A c.(19-21)Cat>Aat p.H7N INPP5D_ENST00000538935.1_Missense_Mutation_p.H7N Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 7 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) CTGCTGGAACCATGGCAACAT 0.692000 3 8 0.004672 0.00468287 1 1 0 ZNF699 374879 broad.mit.edu 37 19 9408081 9408081 + Nonsense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:9408081G>A ENST00000591998.1 - 5 589 c.361C>T c.(361-363)Cag>Tag p.Q121* ZNF699_ENST00000308650.3_Nonsense_Mutation_p.Q121* Q32M78 ZN699_HUMAN zinc finger protein 699 121 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 ACTATTTTCTGTTCATTGGAT 0.343000 38 46 0 0 1 0 0 MYO1A 4640 broad.mit.edu 37 12 57424015 57424015 + Missense_Mutation SNP T T C TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr12:57424015T>C ENST00000442789.2 - 25 2857 c.2570A>G c.(2569-2571)aAg>aGg p.K857R MYO1A_ENST00000544473.1_Missense_Mutation_p.K695R|MYO1A_ENST00000300119.3_Missense_Mutation_p.K857R NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 857 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 TGAAGCCTTCTTGCCCTTGAA 0.557000 22 40 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40424045 40424045 + Missense_Mutation SNP C C T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:40424045C>T ENST00000221347.6 - 4 2165 c.2158G>A c.(2158-2160)Gcc>Acc p.A720T NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 720 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) TGGGCATAGGCGCTGAGGCCA 0.642000 16 45 0 0 1 0 0 TAF1B 9014 broad.mit.edu 37 2 10073952 10073953 + In_Frame_Ins INS - - ATA TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:10073952_10073953insATA ENST00000263663.5 + 15 1794_1795 c.1606_1607insATA c.(1606-1608)tct>tATAct p.536_536S>YT TAF1B_ENST00000396242.3_In_Frame_Ins_p.281_281S>YT NM_005680.2 NP_005671 Q53T94 TAF1B_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa 536 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ATCAAATTATTCTCTGAGTTAT 0.337 12 47 --- --- --- --- LINC01122 400955 broad.mit.edu 37 2 58687297 58687298 + RNA INS - - T rs142388743 by1000genomes TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr2:58687297_58687298insT ENST00000452840.1 + 0 127 ATCTGTGTTTCTTTTTTTTTTC 0.312 2 4 --- --- --- --- SLC9C1 285335 broad.mit.edu 37 3 111923223 111923224 + Frame_Shift_Del DEL AA AA - TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr3:111923223_111923224delAA ENST00000305815.5 - 17 2265_2266 c.2013_2014delTT c.(2011-2016)ttttcafs p.S672fs SLC9C1_ENST00000487372.1_Frame_Shift_Del_p.S624fs NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 672 Ion transport-like. cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity CAGGCATGTGAAAAAAAGTCCT 0.292 72 171 --- --- --- --- DAPP1 27071 broad.mit.edu 37 4 100784959 100784960 + Frame_Shift_Del DEL AG AG - TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr4:100784959_100784960delAG ENST00000296414.7 + 7 714_715 c.633_634delAG c.(631-636)acagaafs p.E212fs DAPP1_ENST00000512369.1_Frame_Shift_Del_p.E212fs Q9UN19 DAPP1_HUMAN dual adaptor of phosphotyrosine and 3-phosphoinositides 212 PH. signal transduction cytoplasm|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity endometrium(1)|kidney(1)|lung(4) 6 OV - Ovarian serous cystadenocarcinoma(123;7.04e-09) TAGACCTAACAGAATGTTCAGC 0.317 4 6 --- --- --- --- CCRN4L 25819 broad.mit.edu 37 4 139966226 139966231 + In_Frame_Del DEL AGCTCA AGCTCA - TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr4:139966226_139966231delAGCTCA ENST00000280614.2 + 3 1087_1092 c.894_899delAGCTCA c.(892-900)tcagctcaa>tca p.AQ299del ELF2_ENST00000515489.1_Intron NM_012118.2 NP_036250.2 Q9UK39 NOCT_HUMAN CCR4 carbon catabolite repression 4-like (S. cerevisiae) 299 rhythmic process|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity kidney(2)|large_intestine(3)|lung(3)|ovary(1) 9 all_hematologic(180;0.162) GGTTTCGATCAGCTCAAGGCTGTGAC 0.539 9 35 --- --- --- --- DDB2 1643 broad.mit.edu 37 11 47254498 47254499 + Frame_Shift_Ins INS - - A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr11:47254498_47254499insA ENST00000256996.4 + 4 785_786 c.590_591insA c.(589-594)tcagacfs p.D198fs DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378603.3_Frame_Shift_Ins_p.D134fs|DDB2_ENST00000378601.3_Frame_Shift_Ins_p.D198fs NM_000107.2 NP_000098.1 Q92466 DDB2_HUMAN damage-specific DNA binding protein 2, 48kDa 198 nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV nucleoplasm|protein complex damaged DNA binding|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1) 17 TTTGCCAGCTCAGACACCATCA 0.460 """Mis, N""" """skin basal cell, skin squamous cell, melanoma""" Direct reversal of damage;Nucleotide excision repair (NER) Xeroderma Pigmentosum 37 62 --- --- --- --- SSH1 54434 broad.mit.edu 37 12 109203535 109203536 + Splice_Site DEL CT CT - TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr12:109203535_109203536delCT ENST00000326495.5 - 7 564 c.e7-1 SSH1_ENST00000326470.5_Splice_Site|SSH1_ENST00000360239.3_Splice_Site|SSH1_ENST00000551165.1_Splice_Site NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GCTGAACCCACTGAGAATAAAA 0.500 32 66 --- --- --- --- SLITRK6 84189 broad.mit.edu 37 13 86368645 86368649 + Frame_Shift_Del DEL GAGTG GAGTG - TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr13:86368645_86368649delGAGTG ENST00000400286.2 - 2 2593_2597 c.1995_1999delCACTC c.(1993-2001)accactcatfs p.TH666fs NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 666 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) GTAGTGTGATGAGTGGTTTTATGGC 0.444 47 74 --- --- --- --- IPO5 3843 broad.mit.edu 37 13 98664556 98664556 + Frame_Shift_Del DEL C C - TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr13:98664556delC ENST00000261574.5 + 21 2346 c.2166delC c.(2164-2166)gtcfs p.V722fs IPO5_ENST00000490680.1_Frame_Shift_Del_p.V704fs|IPO5_ENST00000539640.1_Frame_Shift_Del_p.V579fs NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 704 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 AACAGGTTGTCAAACTGATGG 0.363 18 73 --- --- --- --- SLC15A1 6564 broad.mit.edu 37 13 99373822 99373823 + Frame_Shift_Del DEL TC TC - rs79092209 TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr13:99373822_99373823delTC ENST00000376503.5 - 7 537_538 c.482_483delGA c.(481-483)agafs p.R161fs NM_005073.3 NP_005064.1 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide transporter), member 1 161 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) TGGAAAAAAATCTGTTTCTTTG 0.391 10 28 --- --- --- --- KNSTRN 90417 broad.mit.edu 37 15 40678579 40678591 + Frame_Shift_Del DEL CACTTCTAAGAGT CACTTCTAAGAGT - TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr15:40678579_40678591delCACTTCTAAGAGT ENST00000416151.2 + 3 436_448 c.321_333delCACTTCTAAGAGT c.(319-333)gccacttctaagagtfs p.ATSKS107fs KNSTRN_ENST00000608100.1_Frame_Shift_Del_p.ATSKS29fs|KNSTRN_ENST00000249776.8_Frame_Shift_Del_p.ATSKS107fs|KNSTRN_ENST00000448395.2_Frame_Shift_Del_p.ATSKS107fs NM_001142761.1 NP_001136233.1 kinetochore-localized astrin/SPAG5 binding protein AAACTCGGGCCACTTCTAAGAGTCTCTTACCTG 0.451 10 46 --- --- --- --- CPNE2 221184 broad.mit.edu 37 16 57153531 57153532 + Frame_Shift_Del DEL TG TG - TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr16:57153531_57153532delTG ENST00000535318.2 + 8 1011_1012 c.650_651delTG c.(649-651)ctgfs p.L217fs CPNE2_ENST00000537605.1_Frame_Shift_Del_p.L115fs|CPNE2_ENST00000290776.8_Frame_Shift_Del_p.L217fs|CPNE2_ENST00000565874.1_Frame_Shift_Del_p.L217fs Q96FN4 CPNE2_HUMAN copine II 217 C2 2. central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5) 21 all_neural(199;0.224) TTGGTGTCCCTGTGTGATGGGG 0.624 7 12 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578222 7578223 + Frame_Shift_Del DEL TC TC - TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr17:7578222_7578223delTC ENST00000420246.2 - 6 758_759 c.626_627delGA c.(625-627)agafs p.R209fs TP53_ENST00000413465.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.R209fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 209 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> I (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> T (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.R209fs*6(38)|p.0?(8)|p.R209K(7)|p.?(5)|p.R209T(3)|p.R77fs*6(2)|p.R209fs*35(2)|p.D207fs*6(2)|p.R209fs*38(2)|p.R116fs*6(2)|p.R77K(1)|p.R116K(1)|p.E204_N210delEYLDDRN(1)|p.R209fs*36(1)|p.D207_R213delDDRNTFR(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.R209S(1)|p.R209I(1)|p.R209_R213delRNTFR(1)|p.D207_V216del10(1)|p.R209fs*5(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) GAAAAGTGTTTCTGTCATCCAA 0.535 111 """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) 22 14 --- --- --- --- GNA15 2769 broad.mit.edu 37 19 3148681 3148681 + Frame_Shift_Del DEL C C - TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:3148681delC ENST00000262958.3 + 2 496 c.238delC c.(238-240)cccfs p.P80fs AC005264.2_ENST00000587587.1_RNA NM_002068.2 NP_002059.2 P30679 GNA15_HUMAN guanine nucleotide binding protein (G protein), alpha 15 (Gq class) 80 activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184) GGGCTTCCGGCCCCTGGTCTA 0.637 2 4 --- --- --- --- ZNF600 162966 broad.mit.edu 37 19 53270442 53270443 + Frame_Shift_Del DEL TT TT - TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:53270442_53270443delTT ENST00000338230.3 - 3 833_834 c.566_567delAA c.(565-567)caafs p.Q189fs NM_198457.2 NP_940859 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 189 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) CACATTTATATTGTTTGTCTCC 0.371 47 176 --- --- --- --- LILRB1 10859 broad.mit.edu 37 19 55146148 55146150 + In_Frame_Del DEL CTC CTC - TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr19:55146148_55146150delCTC ENST00000396331.1 + 11 1774_1776 c.1417_1419delCTC c.(1417-1419)ctcdel p.L479del LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 479 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) CAtcctactgctcctcctcctcc 0.581 HNSCC(37;0.09) 7 72 --- --- --- --- ZNF337 26152 broad.mit.edu 37 20 25656810 25656811 + Frame_Shift_Del DEL CT CT - TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chr20:25656810_25656811delCT ENST00000376436.1 - 4 1652_1653 c.1113_1114delAG c.(1111-1116)tcagggfs p.G372fs RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.G340fs|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.G372fs|RP4-694B14.5_ENST00000455791.1_RNA zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GGCTTCTCCCCTGAGTGTGTCC 0.500 15 94 --- --- --- --- TFE3 7030 broad.mit.edu 37 X 48887952 48887952 + Frame_Shift_Del DEL C C - TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed352cfc-4090-4900-b7dc-a0a7a35ca96b 84481ebf-c9aa-4a72-b49b-8bb6beec0ba0 g.chrX:48887952delC ENST00000315869.7 - 10 1704 c.1445delG c.(1444-1446)ggafs p.G482fs NM_006521.4 NP_006512.2 P19532 TFE3_HUMAN transcription factor binding to IGHM enhancer 3 482 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 CTGGGCAGGTCCCCCCCCTAC 0.647 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 7 77 --- --- --- ---