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 FES 2242 broad.mit.edu 37 15 91436007 91436007 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr15:91436007G>A ENST00000328850.3 + 14 1920 c.1778G>A c.(1777-1779)cGa>cAa p.R593Q FES_ENST00000414248.2_Missense_Mutation_p.R465Q|FES_ENST00000450438.2_Missense_Mutation_p.R465Q|FES_ENST00000444422.2_Missense_Mutation_p.R523Q|FES_ENST00000394300.3_Missense_Mutation_p.R535Q|FES_ENST00000394302.1_Missense_Mutation_p.R465Q NM_002005.3 NP_001996.1 P07332 FES_HUMAN feline sarcoma oncogene 593 Protein kinase. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) AAGTCTTGTCGAGAGACGCTC 0.577000 6 37 0 0 1 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188818 140188818 + Silent SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr5:140188818G>A ENST00000530339.1 + 1 2046 c.2046G>A c.(2044-2046)gcG>gcA p.A682A PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.A682A|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.A682A NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTCACGGGCGTTGGTGGGCG 0.637000 25 98 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14822685 14822685 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr12:14822685G>A ENST00000261170.3 - 10 1389 c.1253C>T c.(1252-1254)tCt>tTt p.S418F RP11-174G6.1_ENST00000501178.2_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 418 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 AGGAAGTTTAGAGTTCTTCCA 0.398000 3 26 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26717839 26717839 + Missense_Mutation SNP C C G TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr2:26717839C>G ENST00000272371.2 - 9 994 c.868G>C c.(868-870)Gag>Cag p.E290Q OTOF_ENST00000403946.3_Missense_Mutation_p.E290Q NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 290 C2 1. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTAGTGGACTCCTTCATGGAT 0.592000 11 86 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155241740 155241740 + Missense_Mutation SNP A A G TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr4:155241740A>G ENST00000357232.3 - 14 3445 c.3446T>C c.(3445-3447)cTg>cCg p.L1149P NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1149 Cadherin 9. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TTGTGCTGTCAGTGATCTCAG 0.468000 4 91 0 0 1 0 0 USP38 84640 broad.mit.edu 37 4 144106718 144106718 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr4:144106718G>A ENST00000307017.4 + 1 621 c.115G>A c.(115-117)Gag>Aag p.E39K USP38_ENST00000510377.1_Missense_Mutation_p.E39K NM_032557.5 NP_115946.2 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 39 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 33 all_hematologic(180;0.158) GGCGCAGTGCGAGGCCATGTT 0.652000 11 67 0 0 1 0 0 KIF20B 9585 broad.mit.edu 37 10 91470852 91470852 + Missense_Mutation SNP G G C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr10:91470852G>C ENST00000416354.1 + 6 697 c.625G>C c.(625-627)Gag>Cag p.E209Q KIF20B_ENST00000260753.4_Missense_Mutation_p.E209Q|KIF20B_ENST00000394289.2_Missense_Mutation_p.E209Q|KIF20B_ENST00000371728.3_Missense_Mutation_p.E209Q Q96Q89 KI20B_HUMAN kinesin family member 20B 209 Kinesin-motor. cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 ATCAGAACAAGAGAAAGAAGA 0.299000 3 17 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71197410 71197410 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr14:71197410C>T ENST00000554752.2 - 12 3001 c.3002G>A c.(3001-3003)cGg>cAg p.R1001Q MAP3K9_ENST00000555993.2_Missense_Mutation_p.R1015Q|MAP3K9_ENST00000553414.1_Missense_Mutation_p.R734Q|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R729Q|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R978Q P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 1001 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) CAGCCGTTGCCGGTTGGCAGA 0.637000 5 89 0 0 1 0 0 PNPT1 87178 broad.mit.edu 37 2 55900074 55900074 + Nonsense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr2:55900074G>A ENST00000447944.2 - 9 906 c.820C>T c.(820-822)Cag>Tag p.Q274* NM_033109.3 NP_149100.2 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 274 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) AATAACTTCTGAGGTGTCCTC 0.363000 9 37 0 0 1 0 0 NIPAL1 152519 broad.mit.edu 37 4 48037921 48037921 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr4:48037921C>T ENST00000295461.5 + 6 1031 c.965C>T c.(964-966)tCt>tTt p.S322F NM_207330.1 NP_997213.1 Q6NVV3 NIPA3_HUMAN NIPA-like domain containing 1 322 integral to membrane endometrium(2)|large_intestine(1)|lung(3)|skin(2) 8 GTGACTTGCTCTGCCATCTTA 0.413000 7 34 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 4 22 0 0 1 0 0 CAPN13 92291 broad.mit.edu 37 2 30977169 30977169 + Missense_Mutation SNP C C G TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr2:30977169C>G ENST00000295055.8 - 9 1104 c.928G>C c.(928-930)Gat>Cat p.D310H CAPN13_ENST00000534090.2_Missense_Mutation_p.D310H NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 310 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) AACTCGCCATCTTCCCGTTTC 0.443000 3 5 0 0 1 0 0 RFX7 64864 broad.mit.edu 37 15 56436623 56436623 + Missense_Mutation SNP G G C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr15:56436623G>C ENST00000423270.1 - 3 253 c.254C>G c.(253-255)tCt>tGt p.S85C RFX7_ENST00000559447.2_5'UTR|RFX7_ENST00000422057.1_5'UTR|RFX7_ENST00000317318.6_Missense_Mutation_p.S85C NM_022841.5 NP_073752.5 Q2KHR2 RFX7_HUMAN regulatory factor X, 7 726 regulation of transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 GCTGAGACCAGAAGGCAGCTG 0.348000 5 20 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16254889 16254889 + Silent SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr1:16254889G>A ENST00000375759.3 + 11 2358 c.2154G>A c.(2152-2154)gaG>gaA p.E718E NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 718 Arg-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GAGACCATGAGAGGAGGCCGA 0.488000 11 46 0 0 1 0 0 PAIP1 10605 broad.mit.edu 37 5 43529915 43529915 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr5:43529915C>T ENST00000306846.3 - 10 1551 c.1319G>A c.(1318-1320)gGa>gAa p.G440E PAIP1_ENST00000514514.1_Intron|PAIP1_ENST00000436644.2_Missense_Mutation_p.G361E|PAIP1_ENST00000338972.4_Missense_Mutation_p.G328E NM_006451.4|NM_182789.3 NP_006442.2|NP_877590.1 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 440 PABPC1-interacting motif-1 (PAM1). mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Lung NSC(6;2.07e-05) TAAATCTGTTCCATTTTCTTC 0.348000 3 32 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64644310 64644310 + Missense_Mutation SNP C C G TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr3:64644310C>G ENST00000498707.1 - 4 1179 c.837G>C c.(835-837)aaG>aaC p.K279N ADAMTS9_ENST00000459780.1_Missense_Mutation_p.K279N|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.K279N NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 279 glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TGTGGGTCCTCTTTTCTCTTG 0.438000 20 109 0 0 1 0 0 SERPINB9 5272 broad.mit.edu 37 6 2895698 2895698 + Missense_Mutation SNP C C A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr6:2895698C>A ENST00000380698.4 - 4 440 c.351G>T c.(349-351)aaG>aaT p.K117N NM_004155.5 NP_004146.1 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 9 117 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 15 Ovarian(93;0.0412) all_hematologic(90;0.108) AGGAAAGCTCCTTCAGCTCAG 0.423000 9 28 2.17888e-05 2.26919e-05 1 1 0 AFAP1L2 84632 broad.mit.edu 37 10 116067594 116067594 + Nonsense_Mutation SNP C C A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr10:116067594C>A ENST00000369271.3 - 10 1342 c.1042G>T c.(1042-1044)Gag>Tag p.E348* AFAP1L2_ENST00000545353.1_Nonsense_Mutation_p.E401*|AFAP1L2_ENST00000304129.4_Nonsense_Mutation_p.E348* NM_001001936.1|NM_032550.2 NP_001001936.1|NP_115939.1 Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 348 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) TCCACAGGCTCCAGTGAGGTG 0.512000 4 35 0.00909568 0.00932771 1 1 0 SFSWAP 6433 broad.mit.edu 37 12 132283601 132283601 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr12:132283601G>A ENST00000261674.4 + 17 2878 c.2737G>A c.(2737-2739)Gaa>Aaa p.E913K SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_Missense_Mutation_p.E965K NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 913 Arg/Ser-rich (RS domain). mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 TCAGGAAAAAGAAGCCCAGAT 0.557000 6 36 0 0 1 0 0 SH3TC2 79628 broad.mit.edu 37 5 148418028 148418028 + Silent SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr5:148418028C>T ENST00000515425.1 - 8 932 c.831G>A c.(829-831)acG>acA p.T277T SH3TC2_ENST00000512049.1_Silent_p.T270T|SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000394358.2_Silent_p.T162T NM_024577.3 NP_078853.2 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 277 SH3. binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTCATAACCCGTCAAGGCCT 0.478000 8 80 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15936847 15936847 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr5:15936847G>A ENST00000504595.1 + 4 1509 c.1028G>A c.(1027-1029)cGg>cAg p.R343Q FBXL7_ENST00000329673.7_Missense_Mutation_p.R331Q|FBXL7_ENST00000510662.1_Missense_Mutation_p.R296Q NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 343 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 TTCGGCCTGCGGGAGATCGCC 0.667000 3 20 0 0 1 0 0 VPS4A 27183 broad.mit.edu 37 16 69354105 69354105 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr16:69354105G>A ENST00000254950.11 + 7 838 c.682G>A c.(682-684)Gag>Aag p.E228K COG8_ENST00000564419.1_5'UTR|RP11-343C2.3_ENST00000570054.2_Missense_Mutation_p.E252K|VPS4A_ENST00000569775.1_Intron NM_013245.2 NP_037377.1 Q9UN37 VPS4A_HUMAN vacuolar protein sorting 4 homolog A (S. cerevisiae) 228 cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3) 7 Ovarian(137;0.101) CTTCATCGATGAGGTGGATTC 0.567000 5 41 0 0 1 0 0 KNTC1 9735 broad.mit.edu 37 12 123097728 123097728 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr12:123097728G>A ENST00000333479.7 + 54 5869 c.5692G>A c.(5692-5694)Gac>Aac p.D1898N KNTC1_ENST00000450485.2_Missense_Mutation_p.D823N|KNTC1_ENST00000537348.1_Missense_Mutation_p.D323N|KNTC1_ENST00000436959.3_5'UTR NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 1898 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) CTATTTGGCTGACAAGGAAAC 0.333000 6 38 0 0 1 0 0 OR10H2 26538 broad.mit.edu 37 19 15839311 15839311 + Missense_Mutation SNP C C T rs139469467 TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr19:15839311C>T ENST00000305899.3 + 1 478 c.458C>T c.(457-459)tCg>tTg p.S153L NM_013939.2 NP_039227.1 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, member 2 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) GCTGGTGGCTCGGTCATGGGG 0.592000 4 88 0 0 1 0 0 CNR1 1268 broad.mit.edu 37 6 88854078 88854078 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr6:88854078C>T ENST00000537554.1 - 2 4478 c.916G>A c.(916-918)Gtc>Atc p.V306I CNR1_ENST00000549890.1_Missense_Mutation_p.V306I|CNR1_ENST00000369499.2_Missense_Mutation_p.V306I|CNR1_ENST00000468898.1_Missense_Mutation_p.V273I|CNR1_ENST00000549716.1_Missense_Mutation_p.V245I|CNR1_ENST00000428600.2_Missense_Mutation_p.V306I|CNR1_ENST00000369501.2_Missense_Mutation_p.V306I|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000535130.1_Missense_Mutation_p.V306I NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 306 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) ATCATGCGGACGGCGTGGCTG 0.547000 13 81 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39645740 39645740 + Missense_Mutation SNP G G C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr8:39645740G>C ENST00000265708.4 - 9 776 c.673C>G c.(673-675)Ctg>Gtg p.L225V ADAM2_ENST00000521880.1_Missense_Mutation_p.L225V|ADAM2_ENST00000347580.4_Missense_Mutation_p.L206V|ADAM2_ENST00000379853.2_Intron NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 225 Peptidase M12B. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) AATGAAGACAGAATAATTGTA 0.259000 3 22 0 0 1 0 0 FAM196A 642938 broad.mit.edu 37 10 128974117 128974117 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr10:128974117C>T ENST00000522781.1 - 4 1098 c.543G>A c.(541-543)atG>atA p.M181I FAM196A_ENST00000424811.2_Missense_Mutation_p.M181I|DOCK1_ENST00000280333.6_Intron NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 181 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 CCACTGTGTTCATGTGTTGGT 0.597000 12 95 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr3:178936091G>A ENST00000263967.3 + 10 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(881)|p.E545Q(18) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 4 18 0 0 1 0 0 MON2 23041 broad.mit.edu 37 12 62943490 62943490 + Silent SNP T T C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr12:62943490T>C ENST00000393630.3 + 24 3190 c.2799T>C c.(2797-2799)gtT>gtC p.V933V MON2_ENST00000393632.2_Silent_p.V932V|MON2_ENST00000546600.1_Silent_p.V932V|MON2_ENST00000552738.1_Silent_p.V909V|MON2_ENST00000552115.1_Silent_p.V932V|MON2_ENST00000393629.2_Silent_p.V932V|MON2_ENST00000280379.6_Silent_p.V933V NM_001278470.1|NM_001278472.1 NP_001265399.1|NP_001265401.1 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) 933 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) TTCAGTTGGTTGTGACAGATT 0.343000 11 36 0 0 1 0 0 IGDCC4 57722 broad.mit.edu 37 15 65703569 65703569 + Silent SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr15:65703569C>T ENST00000352385.2 - 2 419 c.210G>A c.(208-210)gtG>gtA p.V70V NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 70 Ig-like C2-type 1. integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 TGCTCCAGGTCACCCTGGTGG 0.642000 4 40 0 0 1 0 0 LINS 55180 broad.mit.edu 37 15 101112104 101112104 + Silent SNP C C G TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr15:101112104C>G ENST00000314742.8 - 6 1611 c.1389G>C c.(1387-1389)ctG>ctC p.L463L NM_001040616.2 NP_001035706.1 Q8NG48 LINES_HUMAN lines homolog (Drosophila) 463 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 CTAACCTGGTCAGTGTTAAGT 0.433000 5 35 0 0 1 0 0 PTGER4 5734 broad.mit.edu 37 5 40692464 40692464 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr5:40692464C>T ENST00000302472.3 + 3 2475 c.1451C>T c.(1450-1452)tCa>tTa p.S484L NM_000958.2 NP_000949.1 P35408 PE2R4_HUMAN prostaglandin E receptor 4 (subtype EP4) 484 G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 CTGAACTTATCAGAAAAATGT 0.463000 7 55 0 0 1 0 0 PTPRM 5797 broad.mit.edu 37 18 8069693 8069693 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr18:8069693G>A ENST00000332175.8 + 8 2179 c.1142G>A c.(1141-1143)cGa>cAa p.R381Q PTPRM_ENST00000400060.4_Missense_Mutation_p.R381Q|PTPRM_ENST00000580170.1_Missense_Mutation_p.R381Q|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000444013.1_Missense_Mutation_p.R168Q|PTPRM_ENST00000400053.4_Missense_Mutation_p.R319Q NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 381 Fibronectin type-III 2. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) GATCCCATGCGAGGCCCAAGA 0.413000 5 23 0 0 1 0 0 AP2A1 160 broad.mit.edu 37 19 50306633 50306633 + Splice_Site SNP C C A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr19:50306633C>A ENST00000354293.5 + 18 2510 c.2344_splice c.e18+1 p.Q782_splice AP2A1_ENST00000359032.5_Splice_Site_p.Q804_splice NM_130787.2 NP_570603.2 O95782 AP2A1_HUMAN adaptor-related protein complex 2, alpha 1 subunit 804 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol protein binding|protein transporter activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2) 19 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;0.0023)|GBM - Glioblastoma multiforme(134;0.0157) CCTCCAGACTCATATCCTCTC 0.597000 7 35 0.00198382 0.00204486 1 1 0 HECTD4 283450 broad.mit.edu 37 12 112650351 112650351 + Silent SNP G G C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr12:112650351G>C ENST00000550722.1 - 49 7526 c.7131C>G c.(7129-7131)ctC>ctG p.L2377L HECTD4_ENST00000430131.2_Silent_p.L2101L|HECTD4_ENST00000377560.5_Silent_p.L2351L NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GATATGGTGAGAGGCGCTGCC 0.547000 11 75 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63904479 63904479 + Nonsense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr15:63904479G>A ENST00000443617.2 - 77 14458 c.14371C>T c.(14371-14373)Cag>Tag p.Q4791* NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 4791 HECT. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 TGAAATCTCTGAGAAATGTCA 0.428000 5 19 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152382990 152382990 + Missense_Mutation SNP C C G TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr1:152382990C>G ENST00000271835.3 - 3 630 c.568G>C c.(568-570)Gag>Cag p.E190Q RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 190 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGGGTCTGCTCTGTCTGCCCA 0.567000 34 259 0 0 1 0 0 MTNR1A 4543 broad.mit.edu 37 4 187455081 187455081 + Missense_Mutation SNP A A G TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr4:187455081A>G ENST00000307161.5 - 2 1016 c.815T>C c.(814-816)aTc>aCc p.I272T RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 272 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) CCACTCTGGGATCCTAGGCAC 0.502000 10 102 0 0 1 0 0 IL10RB 3588 broad.mit.edu 37 21 34640812 34640812 + Nonsense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr21:34640812C>T ENST00000290200.2 + 2 271 c.163C>T c.(163-165)Cag>Tag p.Q55* AP000295.9_ENST00000433395.2_Silent_p.L182L NM_000628.4 NP_000619.3 interleukin 10 receptor, beta endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 TTTCACAGCTCAGTACCTAAG 0.532000 9 46 0 0 1 0 0 CDH11 1009 broad.mit.edu 37 16 65032504 65032504 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr16:65032504C>T ENST00000394156.3 - 4 937 c.484G>A c.(484-486)Gag>Aag p.E162K CDH11_ENST00000566827.1_Missense_Mutation_p.E36K|CDH11_ENST00000268603.4_Missense_Mutation_p.E162K P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 162 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) TGATAGGTCTCGTGCAGGAAC 0.597000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 10 89 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187530425 187530425 + Nonsense_Mutation SNP G G C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr4:187530425G>C ENST00000441802.2 - 16 10327 c.10118C>G c.(10117-10119)tCa>tGa p.S3373* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3373 Cadherin 31. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 ATCTATAATTGAGTAGTGGAT 0.478000 HNSCC(5;0.00058) 9 17 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53062469 53062469 + Silent SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr8:53062469G>A ENST00000276480.7 - 16 2558 c.1875C>T c.(1873-1875)gaC>gaT p.D625D NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 625 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) GTGCAGACTTGTCCAGGATTC 0.408000 7 48 0 0 1 0 0 PRTG 283659 broad.mit.edu 37 15 55965788 55965788 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr15:55965788G>A ENST00000389286.4 - 10 1680 c.1633C>T c.(1633-1635)Cgg>Tgg p.R545W NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 545 Fibronectin type-III 2. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) TGGCCCCGCCGATATTTGGCT 0.498000 12 97 0 0 1 0 0 LETM1 3954 broad.mit.edu 37 4 1825465 1825465 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr4:1825465G>A ENST00000302787.2 - 8 1534 c.1238C>T c.(1237-1239)tCg>tTg p.S413L NM_012318.2 NP_036450.1 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane protein 1 413 LETM1. cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 13 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) GATGAGCAGCGATGTGGGGAT 0.632000 5 51 0 0 1 0 0 PTGER2 5732 broad.mit.edu 37 14 52781579 52781579 + Missense_Mutation SNP G G C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr14:52781579G>C ENST00000245457.5 + 1 467 c.313G>C c.(313-315)Gag>Cag p.E105Q PTGER2_ENST00000557436.1_Intron NM_000956.3 NP_000947.2 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 105 integral to plasma membrane prostaglandin E receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) ACTGGCGCCCGAGAGCCGCGC 0.642000 9 57 0 0 1 0 0 WDTC1 23038 broad.mit.edu 37 1 27621045 27621045 + Silent SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr1:27621045G>A ENST00000319394.3 + 9 1333 c.798G>A c.(796-798)ttG>ttA p.L266L WDTC1_ENST00000361771.3_Silent_p.L266L NM_001276252.1|NM_015023.3 NP_001263181.1|NP_055838.2 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 266 protein binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 21 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) ACAACCGTTTGAGAGTGCTGG 0.527000 8 37 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32726846 32726846 + Missense_Mutation SNP C C T rs142243133 by1000genomes TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr6:32726846C>T ENST00000435145.2 - 3 488 c.427G>A c.(427-429)Gtc>Atc p.V143I HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.V143I|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.V143I Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 143 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 ACCGAGCAGACCAGCAGGTTG 0.552000 4 60 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39695695 39695695 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr8:39695695C>T ENST00000265708.4 - 1 113 c.10G>A c.(10-12)Gtc>Atc p.V4I ADAM2_ENST00000521880.1_Missense_Mutation_p.V4I|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000347580.4_Missense_Mutation_p.V4I|ADAM2_ENST00000379853.2_Missense_Mutation_p.V4I NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 4 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) AGAAACAAGACGCGCCACATG 0.612000 7 42 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139410437 139410437 + Silent SNP C C T rs148331061 by1000genomes TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr9:139410437C>T ENST00000277541.6 - 10 1740 c.1665G>A c.(1663-1665)acG>acA p.T555T NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 555 EGF-like 14; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CCGCACCTTCCGTGCACACAC 0.632000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 3 42 0 0 1 0 0 NUTM2A 728118 broad.mit.edu 37 10 88994223 88994223 + Nonsense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr10:88994223C>T ENST00000381707.2 + 7 2778 c.2395C>T c.(2395-2397)Cag>Tag p.Q799* NUTM2A_ENST00000381689.4_Intron|NUTM2A-AS1_ENST00000451940.2_RNA NM_001099338.1 NP_001092808.1 NUT family member 2A GGGAACTCATCAGTTCCCATC 0.592000 3 23 0 0 1 0 0 IQSEC2 23096 broad.mit.edu 37 X 53277968 53277968 + Silent SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chrX:53277968G>A ENST00000396435.3 - 6 2594 c.2394C>T c.(2392-2394)ctC>ctT p.L798L IQSEC2_ENST00000375365.2_Silent_p.L593L|IQSEC2_ENST00000375368.5_Silent_p.L788L NM_001111125.2 NP_001104595.1 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 788 SEC7. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1) 29 TCTGCCGGCTGAGGCCTTTCC 0.602000 11 16 0 0 1 0 0 LMF2 91289 broad.mit.edu 37 22 50945072 50945072 + Missense_Mutation SNP G G C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr22:50945072G>C ENST00000216080.5 - 3 465 c.297C>G c.(295-297)ttC>ttG p.F99L LMF2_ENST00000380796.3_Missense_Mutation_p.F124L|LMF2_ENST00000474879.2_Missense_Mutation_p.F124L|LMF2_ENST00000505981.1_5'UTR Q9BU23 LMF2_HUMAN lipase maturation factor 2 124 endoplasmic reticulum membrane|integral to membrane breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2) 10 all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CTCACCACTGGAAATAAAGGA 0.657000 10 63 0 0 1 0 0 PDK2 5164 broad.mit.edu 37 17 48182772 48182772 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr17:48182772G>A ENST00000503176.1 + 3 459 c.298G>A c.(298-300)Gac>Aac p.D100N PDK2_ENST00000007708.3_Missense_Mutation_p.D36N NM_002611.4 NP_002602.2 Q15119 PDK2_HUMAN pyruvate dehydrogenase kinase, isozyme 2 100 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|nucleus ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 20 GGAGTTCCTGGACAAGGATCC 0.652000 Autosomal Dominant Polycystic Kidney Disease 3 21 0 0 1 0 0 GPR123 84435 broad.mit.edu 37 10 134898352 134898352 + Missense_Mutation SNP G G C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr10:134898352G>C ENST00000607359.1 + 8 1414 c.1414G>C c.(1414-1416)Gag>Cag p.E472Q Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 220 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) CTGCAGCGGGGAGCTGAGCCT 0.647000 4 35 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215844402 215844402 + Missense_Mutation SNP C C G TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr1:215844402C>G ENST00000366943.2 - 64 14431 c.14045G>C c.(14044-14046)aGa>aCa p.R4682T USH2A_ENST00000307340.3_Missense_Mutation_p.R4682T O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4682 Fibronectin type-III 32. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATTGGATTTTCTAGGCTGAGT 0.388000 HNSCC(13;0.011) 12 69 0 0 1 0 0 EIF5A 1984 broad.mit.edu 37 17 7213022 7213022 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr17:7213022C>T ENST00000336458.8 + 2 469 c.68C>T c.(67-69)tCa>tTa p.S23L EIF5A_ENST00000336452.7_Missense_Mutation_p.S53L|EIF5A_ENST00000572815.1_Missense_Mutation_p.S23L|EIF5A_ENST00000573542.1_Missense_Mutation_p.S23L|EIF5A_ENST00000571955.1_Missense_Mutation_p.S23L|EIF5A_ENST00000419711.2_Missense_Mutation_p.S23L|EIF5A_ENST00000576930.1_Missense_Mutation_p.S23L|EIF5A_ENST00000416016.2_Missense_Mutation_p.S23L NM_001970.4 NP_001961.1 P63241 IF5A1_HUMAN eukaryotic translation initiation factor 5A 23 DOHH-binding. induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1) 6 ATGCAGTGCTCAGCATTACGT 0.522000 10 119 0 0 1 0 0 RSPH3 83861 broad.mit.edu 37 6 159420575 159420575 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr6:159420575G>A ENST00000367069.2 - 1 644 c.8C>T c.(7-9)tCa>tTa p.S3L RSPH3_ENST00000252655.1_Missense_Mutation_p.S145L|RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000449822.1_Missense_Mutation_p.S3L|RSPH3_ENST00000297262.3_Missense_Mutation_p.S145L Q86UC2 RSPH3_HUMAN radial spoke 3 homolog (Chlamydomonas) 145 endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7) 23 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06) AGTCAGCGCTGAGGCCATGTC 0.652000 13 80 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187628929 187628929 + Nonsense_Mutation SNP C C A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr4:187628929C>A ENST00000441802.2 - 2 2262 c.2053G>T c.(2053-2055)Gag>Tag p.E685* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 685 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 AGGAGCTTCTCTGCCAGCATT 0.438000 HNSCC(5;0.00058) 5 41 0.014758 0.0150576 1 1 0 CACNG6 59285 broad.mit.edu 37 19 54515361 54515361 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr19:54515361G>A ENST00000252729.2 + 4 1291 c.701G>A c.(700-702)gGg>gAg p.G234E CACNG6_ENST00000346968.2_Missense_Mutation_p.G188E|CACNG6_ENST00000352529.1_Missense_Mutation_p.G163E NM_145814.1 NP_665813.1 Q9BXT2 CCG6_HUMAN calcium channel, voltage-dependent, gamma subunit 6 234 voltage-gated calcium channel complex voltage-gated calcium channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) CTGCTGTTGGGGGCCGGCTGC 0.706000 14 86 0 0 1 0 0 IQSEC2 23096 broad.mit.edu 37 X 53277994 53277994 + Missense_Mutation SNP G G C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chrX:53277994G>C ENST00000396435.3 - 6 2568 c.2368C>G c.(2368-2370)Cac>Gac p.H790D IQSEC2_ENST00000375365.2_Missense_Mutation_p.H585D|IQSEC2_ENST00000375368.5_Missense_Mutation_p.H780D NM_001111125.2 NP_001104595.1 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 780 SEC7. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1) 29 AGGATGAAGTGAGCCACTCCC 0.557000 12 16 0 0 1 0 0 IZUMO2 126123 broad.mit.edu 37 19 50657981 50657981 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr19:50657981C>T ENST00000293405.3 - 6 499 c.499G>A c.(499-501)Gac>Aac p.D167N NM_152358.2 NP_689571.2 Q6UXV1 IZUM2_HUMAN IZUMO family member 2 167 integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 7 GGTTGCCGGTCGACTGGGGCG 0.632000 15 78 0 0 1 0 0 TAP1 6890 broad.mit.edu 37 6 32813460 32813460 + Silent SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr6:32813460G>A ENST00000354258.4 - 11 2484 c.2323C>T c.(2323-2325)Ctg>Ttg p.L775L XXbac-BPG246D15.8_ENST00000453426.1_lincRNA|TAP1_ENST00000425148.2_Silent_p.L514L|PSMB9_ENST00000395330.1_Intron NM_000593.5 NP_000584.2 Q03518 TAP1_HUMAN transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 775 ABC transporter. antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity cytosol|plasma membrane|TAP complex ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1) 21 CCTCCTTCCAGAAAGAGGATG 0.612000 12 54 0 0 1 0 0 ACVR1C 130399 broad.mit.edu 37 2 158397654 158397654 + Missense_Mutation SNP G G C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr2:158397654G>C ENST00000243349.7 - 7 1533 c.1173C>G c.(1171-1173)atC>atG p.I391M ACVR1C_ENST00000409680.3_Missense_Mutation_p.I341M|ACVR1C_ENST00000348328.5_Missense_Mutation_p.I234M|ACVR1C_ENST00000335450.7_Missense_Mutation_p.I311M NM_145259.2 NP_660302.2 Q8NER5 ACV1C_HUMAN activin A receptor, type IC 391 Protein kinase. apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 42 CAACAGAATAGATGTCAGCTC 0.388000 8 44 0 0 1 0 0 GLRA2 2742 broad.mit.edu 37 X 14627288 14627288 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chrX:14627288G>A ENST00000218075.4 + 7 1421 c.891G>A c.(889-891)atG>atA p.M297I GLRA2_ENST00000443437.2_Missense_Mutation_p.M208I|GLRA2_ENST00000355020.4_Missense_Mutation_p.M297I NM_002063.3 NP_002054.1 P23416 GLRA2_HUMAN glycine receptor, alpha 2 297 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) TCTTAACGATGACCACCCAGA 0.488000 8 25 0 0 1 0 0 FAM227B 196951 broad.mit.edu 37 15 49867302 49867302 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr15:49867302C>T ENST00000299338.6 - 8 854 c.551G>A c.(550-552)aGa>aAa p.R184K FAM227B_ENST00000561064.1_Missense_Mutation_p.R184K NM_152647.2 NP_689860.2 family with sequence similarity 227, member B TTTAAAAACTCTTTCCTATGG 0.333000 3 12 0 0 1 0 0 TMEM200C 645369 broad.mit.edu 37 18 5891773 5891773 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr18:5891773C>T ENST00000581347.1 - 3 935 c.290G>A c.(289-291)cGg>cAg p.R97Q RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.R97Q A6NKL6 T200C_HUMAN transmembrane protein 200C 97 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1) 12 GGTTGGGACCCGGTGGCTGCT 0.687000 8 44 0 0 1 0 0 OR51D1 390038 broad.mit.edu 37 11 4661698 4661698 + Silent SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr11:4661698C>T ENST00000357605.2 + 1 754 c.678C>T c.(676-678)ttC>ttT p.F226F NM_001004751.2 NP_001004751.1 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, member 1 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) ACTCTCTCTTCATTGGCTTCT 0.498000 14 76 0 0 1 0 0 METTL3 56339 broad.mit.edu 37 14 21969183 21969183 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr14:21969183G>A ENST00000298717.4 - 5 1139 c.988C>T c.(988-990)Cac>Tac p.H330Y METTL3_ENST00000538267.1_3'UTR NM_019852.3 NP_062826.2 Q86U44 MTA70_HUMAN methyltransferase like 3 330 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) ATTTCATAGTGAACATACTTG 0.443000 4 32 0 0 1 0 0 VIPR2 7434 broad.mit.edu 37 7 158824727 158824727 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr7:158824727G>A ENST00000262178.2 - 11 1188 c.1003C>T c.(1003-1005)Ccg>Tcg p.P335S VIPR2_ENST00000377633.3_Missense_Mutation_p.P319S|VIPR2_ENST00000402066.1_Missense_Mutation_p.P476S NM_003382.4 NP_003373.2 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 335 cell-cell signaling integral to plasma membrane central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) CCGAACAGCGGGATAAGCAGG 0.587000 7 61 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1949979 1949979 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr12:1949979G>A ENST00000382722.5 - 26 2839 c.2477C>T c.(2476-2478)gCg>gTg p.A826V CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A826V|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A687V|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A762V|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A801V|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A762V NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 826 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) GGGTTCACCCGCACTTTCTGG 0.562000 11 55 0 0 1 0 0 LIPE 3991 broad.mit.edu 37 19 42914582 42914582 + Silent SNP C C A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr19:42914582C>A ENST00000244289.4 - 2 1572 c.1296G>T c.(1294-1296)ctG>ctT p.L432L LIPE-AS1_ENST00000597203.1_RNA|LIPE_ENST00000602000.1_Intron|LIPE-AS1_ENST00000594624.2_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 432 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) TGGTAACCAGCAGGCGCTGGG 0.637000 3 43 0.150653 0.152936 1 1 0 NBN 4683 broad.mit.edu 37 8 90976656 90976656 + Missense_Mutation SNP G G C rs121908973 TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr8:90976656G>C ENST00000265433.3 - 8 1130 c.976C>G c.(976-978)Cag>Gag p.Q326E NBN_ENST00000409330.1_Missense_Mutation_p.Q244E NM_002485.4 NP_002476.2 O60934 NBN_HUMAN nibrin 326 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(11;0.0344) GGATGGCCCTGAGGATCACAG 0.333000 Homologous recombination 4 35 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24537718 24537718 + Silent SNP A A G TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr5:24537718A>G ENST00000264463.4 - 3 804 c.297T>C c.(295-297)ggT>ggC p.G99G NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 99 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) TAAAAAGAGTACCAGCTCCAT 0.368000 HNSCC(23;0.051) 5 19 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11672474 11672474 + Silent SNP G G T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr17:11672474G>T ENST00000262442.3 + 38 7448 c.7380G>T c.(7378-7380)gtG>gtT p.V2460V DNAH9_ENST00000454412.2_Silent_p.V2460V NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2460 AAA 3 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CCATCCGTGTGTGCTACTTCA 0.617000 20 84 2.39187e-15 2.54374e-15 1 1 0 SLC25A33 84275 broad.mit.edu 37 1 9640095 9640095 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr1:9640095G>A ENST00000302692.6 + 6 776 c.566G>A c.(565-567)gGa>gAa p.G189E NM_032315.2 NP_115691.1 Q9BSK2 S2533_HUMAN solute carrier family 25 (pyrimidine nucleotide carrier), member 33 189 transport integral to membrane|mitochondrial inner membrane endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1) 9 all_lung(157;0.246) all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419) TTCTATAGAGGATTAACTGCC 0.418000 4 20 0 0 1 0 0 PPP3CA 5530 broad.mit.edu 37 4 102019535 102019535 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr4:102019535C>T ENST00000394854.3 - 5 1314 c.631G>A c.(631-633)Gat>Aat p.D211N PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000323055.6_Missense_Mutation_p.D211N|PPP3CA_ENST00000507176.1_Missense_Mutation_p.D113N|PPP3CA_ENST00000523694.2_Missense_Mutation_p.D144N|PPP3CA_ENST00000394853.4_Missense_Mutation_p.D211N|PPP3CA_ENST00000510292.1_5'UTR NM_000944.4 NP_000935.1 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha isozyme 211 Catalytic. protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) TTTCTGATATCATCTAAAGTG 0.398000 6 27 0 0 1 0 0 OR4F15 390649 broad.mit.edu 37 15 102358936 102358936 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr15:102358936C>T ENST00000332238.4 + 1 571 c.547C>T c.(547-549)Cgg>Tgg p.R183W NM_001001674.1 NP_001001674.1 Q8NGB8 O4F15_HUMAN olfactory receptor, family 4, subfamily F, member 15 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10) 19 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TGATCTCCCTCGGCTCCTCAG 0.428000 12 75 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240370687 240370687 + Missense_Mutation SNP C C A rs145077825 TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr1:240370687C>A ENST00000319653.9 + 5 2805 c.2575C>A c.(2575-2577)Cca>Aca p.P859T NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 859 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCATCTCCACCACCTCTGCC 0.572000 13 130 4.3838e-07 4.58929e-07 1 1 0 TGFBR2 7048 broad.mit.edu 37 3 30732963 30732963 + Missense_Mutation SNP G G A rs121918714 TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr3:30732963G>A ENST00000295754.5 + 7 1958 c.1576G>A c.(1576-1578)Gag>Aag p.E526K TGFBR2_ENST00000359013.4_Missense_Mutation_p.E551K NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 526 Protein kinase. E -> Q (in esophageal cancer). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 CCACGACCCAGAGGCCCGTCT 0.602000 9 64 0 0 1 0 0 OR2B2 81697 broad.mit.edu 37 6 27879548 27879548 + Missense_Mutation SNP G G C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr6:27879548G>C ENST00000303324.2 - 1 626 c.550C>G c.(550-552)Ctg>Gtg p.L184V NM_033057.2 NP_149046.2 Q9GZK3 OR2B2_HUMAN olfactory receptor, family 2, subfamily B, member 2 184 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 22 AACTTGAGCAGAGCAGGGACT 0.438000 13 72 0 0 1 0 0 CDR1 1038 broad.mit.edu 37 X 139866462 139866462 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chrX:139866462C>T ENST00000370532.2 - 1 261 c.70G>A c.(70-72)Gac>Aac p.D24N NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 24 23 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) AAAGGTACGTCTTCCAACAAA 0.428000 16 67 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64644236 64644236 + Missense_Mutation SNP C C G TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr3:64644236C>G ENST00000498707.1 - 4 1253 c.911G>C c.(910-912)aGa>aCa p.R304T ADAMTS9_ENST00000459780.1_Missense_Mutation_p.R304T|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R304T NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 304 Peptidase M12B. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R304I(1) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TGAAACCATTCTGTTGTCTGC 0.368000 7 65 0 0 1 0 0 SNW1 22938 broad.mit.edu 37 14 78202301 78202301 + Silent SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr14:78202301G>A ENST00000261531.7 - 7 749 c.687C>T c.(685-687)gtC>gtT p.V229V SNW1_ENST00000554775.1_Silent_p.V67V|SNW1_ENST00000555761.1_Silent_p.V229V|SLIRP_ENST00000557431.1_Intron NM_012245.2 NP_036377.1 Q13573 SNW1_HUMAN SNW domain containing 1 229 Pro-rich.|SNW. negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter catalytic step 2 spliceosome|nucleoplasm Notch binding NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) GAGAATGCATGACAGGCGCAG 0.388000 4 15 0 0 1 0 0 ANKRD34B 340120 broad.mit.edu 37 5 79854712 79854712 + Nonsense_Mutation SNP G G C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr5:79854712G>C ENST00000338682.3 - 5 1799 c.1127C>G c.(1126-1128)tCa>tGa p.S376* NM_001004441.2 NP_001004441.2 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 376 cytoplasm|nucleus NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 28 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) AAGGCCAGCTGAGAGCTGGGA 0.438000 4 31 0 0 1 0 0 C10orf137 26098 broad.mit.edu 37 10 127408404 127408404 + Missense_Mutation SNP G G C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr10:127408404G>C ENST00000337623.3 + 1 133 c.28G>C c.(28-30)Gag>Cag p.E10Q C10orf137_ENST00000356792.4_Missense_Mutation_p.E10Q NM_015608.2 NP_056423.2 Q3B7T1 EDRF1_HUMAN chromosome 10 open reading frame 137 10 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) GGCCGGAGCCGAGGGTCCGCC 0.697000 5 22 0 0 1 0 0 OR10H2 26538 broad.mit.edu 37 19 15839605 15839605 + Missense_Mutation SNP T T C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr19:15839605T>C ENST00000305899.3 + 1 772 c.752T>C c.(751-753)gTg>gCg p.V251A NM_013939.2 NP_039227.1 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, member 2 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) GTGGTCATTGTGCACTATGGC 0.557000 15 88 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139908925 139908925 + Missense_Mutation SNP C C G TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr5:139908925C>G ENST00000297183.6 + 29 6518 c.6394C>G c.(6394-6396)Cga>Gga p.R2132G ANKHD1_ENST00000544120.1_Missense_Mutation_p.R515G|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R2132G|ANKHD1_ENST00000360839.2_Missense_Mutation_p.R2132G NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCAGCACCTCGAGTTTCTCA 0.443000 26 136 0 0 1 0 0 ALPP 250 broad.mit.edu 37 2 233246271 233246271 + Silent SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr2:233246271C>T ENST00000392027.2 + 11 1643 c.1374C>T c.(1372-1374)gaC>gaT p.D458D AC068134.8_ENST00000441266.1_RNA NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 458 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) CAGGCGAGGACGTGGCGGTGT 0.672000 3 26 0 0 1 0 0 SNX31 169166 broad.mit.edu 37 8 101629873 101629873 + Nonsense_Mutation SNP G G C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr8:101629873G>C ENST00000311812.2 - 5 557 c.407C>G c.(406-408)tCa>tGa p.S136* SNX31_ENST00000428383.2_Nonsense_Mutation_p.S37* NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 136 cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) AGCAGTGTCTGATGTTATAAT 0.388000 6 40 0 0 1 0 0 FBXL14 144699 broad.mit.edu 37 12 1702577 1702577 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr12:1702577G>A ENST00000339235.3 - 1 754 c.656C>T c.(655-657)tCt>tTt p.S219F WNT5B_ENST00000537031.1_Intron NM_152441.2 NP_689654.1 Q8N1E6 FXL14_HUMAN F-box and leucine-rich repeat protein 14 219 cytoplasm endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 8 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00115) GTGCTTTAGAGAAAGATCTGT 0.652000 8 35 0 0 1 0 0 OR2B2 81697 broad.mit.edu 37 6 27879379 27879379 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr6:27879379G>A ENST00000303324.2 - 1 795 c.719C>T c.(718-720)aCa>aTa p.T240I NM_033057.2 NP_149046.2 Q9GZK3 OR2B2_HUMAN olfactory receptor, family 2, subfamily B, member 2 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 22 GGAGCCACATGTCCCAAATGC 0.458000 8 55 0 0 1 0 0 TTC14 151613 broad.mit.edu 37 3 180327971 180327971 + Missense_Mutation SNP G G C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr3:180327971G>C ENST00000296015.4 + 12 2086 c.1954G>C c.(1954-1956)Gag>Cag p.E652Q TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron NM_133462.3 NP_597719.1 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 652 RNA binding p.E652Q(1) endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) AAAGGATATAGAGGGAAGAAA 0.393000 4 22 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28447508 28447508 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr15:28447508C>T ENST00000261609.7 - 46 7573 c.7465G>A c.(7465-7467)Gca>Aca p.A2489T NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2489 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AAGCTGGATGCATTCCCGGAA 0.557000 4 55 0 0 1 0 0 ZNF518B 85460 broad.mit.edu 37 4 10447351 10447351 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr4:10447351C>T ENST00000326756.3 - 3 1040 c.602G>A c.(601-603)aGa>aAa p.R201K NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 201 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 ATAATCATTTCTAATAGCACC 0.428000 12 128 0 0 1 0 0 SLC2A12 154091 broad.mit.edu 37 6 134350659 134350659 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr6:134350659C>T ENST00000275230.5 - 2 459 c.304G>A c.(304-306)Gac>Aac p.D102N NM_145176.2 NP_660159.1 Q8TD20 GTR12_HUMAN solute carrier family 2 (facilitated glucose transporter), member 12 102 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.214)|Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123) CCATATCTGTCTATCAGGACC 0.498000 8 42 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39797963 39797963 + Missense_Mutation SNP G G C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr1:39797963G>C ENST00000564288.1 + 37 6480 c.5703G>C c.(5701-5703)aaG>aaC p.K1901N MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.K341N|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.K1906N|MACF1_ENST00000567887.1_Missense_Mutation_p.K1938N|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000476350.1_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 1906 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TGTCCTGGAAGAAAGCAATAG 0.403000 4 47 0 0 1 0 0 SYT4 6860 broad.mit.edu 37 18 40854100 40854100 + Missense_Mutation SNP C C A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr18:40854100C>A ENST00000255224.3 - 2 662 c.294G>T c.(292-294)aaG>aaT p.K98N SYT4_ENST00000590752.1_Missense_Mutation_p.K80N|SYT4_ENST00000586678.1_Intron NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 98 cell junction|integral to membrane|synaptic vesicle membrane transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 TGAGATCTCTCTTTTCAAGAT 0.393000 5 39 0.27861 0.280003 1 1 0 ESRP2 80004 broad.mit.edu 37 16 68269632 68269632 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr16:68269632C>T ENST00000473183.2 - 2 770 c.232G>A c.(232-234)Gag>Aag p.E78K ESRP2_ENST00000565858.1_Missense_Mutation_p.E78K Q9H6T0 ESRP2_HUMAN epithelial splicing regulatory protein 2 78 mRNA processing|regulation of RNA splicing|RNA splicing nucleus mRNA binding|nucleotide binding NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 16 GCGGCCGCCTCGGCACGAACC 0.716000 5 28 0 0 1 0 0 GRWD1 83743 broad.mit.edu 37 19 48953936 48953936 + Silent SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr19:48953936C>T ENST00000253237.5 + 5 929 c.696C>T c.(694-696)acC>acT p.T232T NM_031485.3 NP_113673.3 Q9BQ67 GRWD1_HUMAN glutamate-rich WD repeat containing 1 232 nucleolus endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1) 19 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222) GCCTGCTGACCGGTGACTGTC 0.652000 10 63 0 0 1 0 0 SOGA1 140710 broad.mit.edu 37 20 35444710 35444710 + Splice_Site SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr20:35444710C>T ENST00000237536.4 - 5 1476 c.1134_splice c.e5-1 p.E379_splice SOGA1_ENST00000357779.3_Splice_Site_p.E141_splice|SOGA1_ENST00000279034.5_Splice_Site_p.E141_splice NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 141 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 GCACTGTCCTCCTGGGACCAC 0.537000 9 51 0 0 1 0 0 VLDLR 7436 broad.mit.edu 37 9 2643851 2643851 + Missense_Mutation SNP G G C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr9:2643851G>C ENST00000382100.2 + 7 1314 c.958G>C c.(958-960)Ggc>Cgc p.G320R VLDLR_ENST00000382099.2_Missense_Mutation_p.G320R NM_003383.3 NP_003374.3 P98155 VLDLR_HUMAN very low density lipoprotein receptor 320 LDL-receptor class A 8. cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123) TCAGTGCTTGGGCCCTGGAAA 0.458000 13 78 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85400425 85400425 + Missense_Mutation SNP G G A rs116079740 by1000genomes TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr15:85400425G>A ENST00000258888.5 + 6 3229 c.3062G>A c.(3061-3063)cGa>cAa p.R1021Q NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1021 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) GAGAGATGCCGAGGGCCACAG 0.647000 10 47 0 0 1 0 0 FYB 2533 broad.mit.edu 37 5 39202662 39202662 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr5:39202662C>T ENST00000351578.6 - 2 591 c.401G>A c.(400-402)gGa>gAa p.G134E FYB_ENST00000540520.1_Missense_Mutation_p.G144E|FYB_ENST00000515010.1_Missense_Mutation_p.G134E|FYB_ENST00000505428.1_Missense_Mutation_p.G134E|FYB_ENST00000512982.1_Missense_Mutation_p.G134E NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 134 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) TGGCTTGTTTCCAGGAGGCCA 0.498000 7 49 0 0 1 0 0 IL22 50616 broad.mit.edu 37 12 68646582 68646582 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr12:68646582C>T ENST00000538666.1 - 3 284 c.214G>A c.(214-216)Gtt>Att p.V72I IL22_ENST00000328087.4_Missense_Mutation_p.V72I Q9GZX6 IL22_HUMAN interleukin 22 72 acute-phase response extracellular space cytokine activity|interleukin-22 receptor binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7) 14 Myeloproliferative disorder(1001;0.0255) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104) ATGAGACGAACGTCTGTGTTG 0.473000 7 59 0 0 1 0 0 SLC12A2 6558 broad.mit.edu 37 5 127507429 127507429 + Nonsense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr5:127507429C>T ENST00000262461.2 + 19 2983 c.2794C>T c.(2794-2796)Caa>Taa p.Q932* SLC12A2_ENST00000343225.4_Nonsense_Mutation_p.Q932* NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 932 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) ATCTCATCTTCAAGGACAAGG 0.289000 4 32 0 0 1 0 0 ASCC3 10973 broad.mit.edu 37 6 101098482 101098482 + Nonsense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr6:101098482G>A ENST00000369162.2 - 20 3528 c.3184C>T c.(3184-3186)Caa>Taa p.Q1062* NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 1062 SEC63 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) ATATAAGTTTGAAGTAAGATG 0.368000 6 21 0 0 1 0 0 DDX58 23586 broad.mit.edu 37 9 32472994 32472994 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr9:32472994C>T ENST00000379882.1 - 13 2015 c.1858G>A c.(1858-1860)Ggc>Agc p.G620S DDX58_ENST00000545044.1_Missense_Mutation_p.G462S|DDX58_ENST00000379868.1_Missense_Mutation_p.G462S|DDX58_ENST00000542096.1_Missense_Mutation_p.G594S|DDX58_ENST00000379883.2_Missense_Mutation_p.G665S O95786 DDX58_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 665 Helicase C-terminal. detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;0.00056) TTTGTTTTGCCACGTCCAGTC 0.318000 4 25 0 0 1 0 0 HARBI1 283254 broad.mit.edu 37 11 46637290 46637290 + Silent SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr11:46637290C>T ENST00000326737.3 - 2 745 c.498G>A c.(496-498)gtG>gtA p.V166V NM_173811.3 NP_776172.1 Q96MB7 HARB1_HUMAN harbinger transposase derived 1 166 cytoplasm|nucleus metal ion binding|nuclease activity large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1) 3 CTTTTCGGTTCACATAGGAGA 0.517000 31 157 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229089 140229089 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr5:140229089C>T ENST00000378122.3 + 1 1733 c.1009C>T c.(1009-1011)Ctt>Ttt p.L337F PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.L337F|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTACACTTCTTGTGGAAGT 0.463000 9 69 0 0 1 0 0 TMEM167A 153339 broad.mit.edu 37 5 82357701 82357701 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr5:82357701C>T ENST00000502346.1 - 3 315 c.143G>A c.(142-144)aGa>aAa p.R48K TMEM167A_ENST00000511450.1_5'UTR NM_174909.4 NP_777569.1 Q8TBQ9 KISHA_HUMAN transmembrane protein 167A 48 Golgi membrane|integral to membrane large_intestine(1)|lung(1) 2 CTTACCAATTCTGGCACACTT 0.299000 3 13 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161527723 161527723 + Missense_Mutation SNP G G C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr6:161527723G>C ENST00000392142.4 + 20 4182 c.4034G>C c.(4033-4035)aGa>aCa p.R1345T MAP3K4_ENST00000366919.2_Missense_Mutation_p.R1295T|MAP3K4_ENST00000348824.7_Missense_Mutation_p.R1291T|MAP3K4_ENST00000366920.2_Missense_Mutation_p.R1341T NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1345 Protein kinase. activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) AAATGGCAAAGAGGAAACAAA 0.373000 3 24 0 0 1 0 0 MTBP 27085 broad.mit.edu 37 8 121528317 121528317 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr8:121528317C>T ENST00000305949.1 + 18 2177 c.2132C>T c.(2131-2133)tCg>tTg p.S711L NM_022045.3 NP_071328.2 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 711 Interaction with MDM2 (By similarity). cell cycle arrest NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) CCTGTAGTTTCGTCAGATCCT 0.428000 3 50 0 0 1 0 0 USH1C 10083 broad.mit.edu 37 11 17544352 17544352 + Missense_Mutation SNP T T C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr11:17544352T>C ENST00000005226.7 - 12 997 c.998A>G c.(997-999)gAg>gGg p.E333G USH1C_ENST00000527720.1_Missense_Mutation_p.E302G|USH1C_ENST00000527020.1_Missense_Mutation_p.E314G|USH1C_ENST00000318024.4_Missense_Mutation_p.E333G NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 333 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 CTCCTGCTGCTCCTGGAGGAT 0.677000 9 56 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7580249 7580249 + Nonsense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr6:7580249C>T ENST00000379802.3 + 23 4167 c.3826C>T c.(3826-3828)Cag>Tag p.Q1276* DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1276 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AAACGCCCTTCAGCAAAAGGC 0.512000 13 88 0 0 1 0 0 TRIM33 51592 broad.mit.edu 37 1 114968304 114968304 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr1:114968304G>A ENST00000358465.2 - 9 1545 c.1462C>T c.(1462-1464)Cct>Tct p.P488S TRIM33_ENST00000450349.2_Missense_Mutation_p.P96S|TRIM33_ENST00000369543.2_Missense_Mutation_p.P488S NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 488 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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) ACAACATTAGGAGTATAACCA 0.373000 T RET papillary thyroid 11 73 0 0 1 0 0 OR5D18 219438 broad.mit.edu 37 11 55587580 55587580 + Nonsense_Mutation SNP G G T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr11:55587580G>T ENST00000333976.4 + 1 495 c.475G>T c.(475-477)Gaa>Taa p.E159* NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) ATGTTCCTTGGAACTGACGTG 0.468000 17 93 1.99824e-07 2.10286e-07 1 1 0 FAT2 2196 broad.mit.edu 37 5 150921911 150921911 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr5:150921911G>A ENST00000261800.5 - 9 8789 c.8777C>T c.(8776-8778)gCg>gTg p.A2926V NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2926 Cadherin 26. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTTTAGAGTCGCCACCAGTTC 0.507000 13 105 0 0 1 0 0 AGO1 26523 broad.mit.edu 37 1 36383221 36383221 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr1:36383221C>T ENST00000373204.4 + 16 2269 c.2056C>T c.(2056-2058)Cgt>Tgt p.R686C AGO1_ENST00000373206.1_Missense_Mutation_p.R611C NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 ACTGGCCATTCGTGATGCCTG 0.458000 14 112 0 0 1 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138764924 138764924 + Nonsense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr7:138764924G>A ENST00000242351.5 - 4 1079 c.763C>T c.(763-765)Cag>Tag p.Q255* ZC3HAV1_ENST00000471652.1_Nonsense_Mutation_p.Q255*|ZC3HAV1_ENST00000464606.1_Nonsense_Mutation_p.Q255* NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 255 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 TGGCTGCCCTGAAAGAACCGA 0.483000 12 162 0 0 1 0 0 NACAP1 83955 broad.mit.edu 37 8 102381306 102381306 + RNA SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr8:102381306G>A ENST00000419462.1 + 0 718 NR_002182.1 GGTAGCAGCTGAAATTGATGA 0.483000 10 63 0 0 1 0 0 ATP8A2 51761 broad.mit.edu 37 13 26535778 26535778 + Silent SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr13:26535778G>A ENST00000381655.2 + 34 3391 c.3249G>A c.(3247-3249)ttG>ttA p.L1083L ATP8A2_ENST00000255283.8_Silent_p.L1018L NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 1043 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) CTGCCTGTTTGATTGAAGATG 0.468000 9 71 0 0 1 0 0 PSMC3IP 29893 broad.mit.edu 37 17 40725341 40725341 + Silent SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr17:40725341C>T ENST00000393795.3 - 6 633 c.525G>A c.(523-525)aaG>aaA p.K175K PSMC3IP_ENST00000253789.5_Silent_p.K163K|PSMC3IP_ENST00000587209.1_Silent_p.K112K|PSMC3IP_ENST00000590760.1_Silent_p.K50K NM_001256015.1|NM_001256016.1|NM_016556.3 NP_001242944.1|NP_001242945.1|NP_057640.1 Q9P2W1 HOP2_HUMAN PSMC3 interacting protein 175 DNA binding (By similarity). DNA recombination|meiosis nucleus DNA binding endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2) 7 all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395) BRCA - Breast invasive adenocarcinoma(366;0.13) TCCTCTTCCTCTTCCTCCACT 0.517000 13 79 0 0 1 0 0 CD226 10666 broad.mit.edu 37 18 67534613 67534613 + Missense_Mutation SNP C C G TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr18:67534613C>G ENST00000280200.4 - 6 1133 c.865G>C c.(865-867)Gag>Cag p.E289Q CD226_ENST00000581982.1_Missense_Mutation_p.E134Q|CD226_ENST00000582621.1_Missense_Mutation_p.E289Q|CD226_ENST00000577287.1_Missense_Mutation_p.E134Q NM_006566.2 NP_006557.2 Q15762 CD226_HUMAN CD226 molecule 289 cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 24 Esophageal squamous(42;0.129) TCCCAGGACTCTGTAAATAGA 0.333000 5 67 0 0 1 0 0 AFAP1L2 84632 broad.mit.edu 37 10 116067583 116067583 + Missense_Mutation SNP C C G TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr10:116067583C>G ENST00000369271.3 - 10 1353 c.1053G>C c.(1051-1053)gaG>gaC p.E351D AFAP1L2_ENST00000545353.1_Missense_Mutation_p.E404D|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.E351D NM_001001936.1|NM_032550.2 NP_001001936.1|NP_115939.1 Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 351 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) CGAGGGACCTCTCCACAGGCT 0.527000 4 32 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155203387 155203387 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr3:155203387C>T ENST00000460012.1 - 22 2999 c.2642G>A c.(2641-2643)cGa>cAa p.R881Q PLCH1_ENST00000494598.1_Missense_Mutation_p.R899Q|PLCH1_ENST00000447496.2_Missense_Mutation_p.R919Q|PLCH1_ENST00000414191.1_Missense_Mutation_p.R881Q|PLCH1_ENST00000340059.7_Missense_Mutation_p.R919Q|PLCH1_ENST00000334686.6_Missense_Mutation_p.R881Q Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 919 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AGCTGTGCGTCGCAGAATTCT 0.473000 13 44 0 0 1 0 0 RNF180 285671 broad.mit.edu 37 5 63510034 63510034 + Missense_Mutation SNP G G T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr5:63510034G>T ENST00000389100.4 + 4 953 c.881G>T c.(880-882)aGa>aTa p.R294I RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.R294I NM_001113561.1 NP_001107033.1 Q86T96 RN180_HUMAN ring finger protein 180 294 Interaction with ZIC2 (By similarity). integral to membrane|nuclear envelope zinc ion binding breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234) Lung(70;0.114) CTGCTGCAAAGATTTTCAGTG 0.423000 6 53 2.7689e-08 2.9292e-08 1 1 0 UBR2 23304 broad.mit.edu 37 6 42583792 42583792 + Missense_Mutation SNP G G C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr6:42583792G>C ENST00000372901.1 + 10 1404 c.1146G>C c.(1144-1146)ttG>ttC p.L382F UBR2_ENST00000372903.2_Missense_Mutation_p.L382F|UBR2_ENST00000372899.1_Missense_Mutation_p.L382F Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 382 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) TTATGGATTTGAAATACAAGA 0.333000 3 42 0 0 1 0 0 GNE 10020 broad.mit.edu 37 9 36234070 36234070 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr9:36234070G>A ENST00000396594.3 - 5 1033 c.922C>T c.(922-924)Cgt>Tgt p.R308C GNE_ENST00000447283.2_Missense_Mutation_p.R277C|GNE_ENST00000543356.2_Missense_Mutation_p.R272C|GNE_ENST00000377902.5_Missense_Mutation_p.R277C|GNE_ENST00000539815.1_Missense_Mutation_p.R277C|GNE_ENST00000539208.1_Missense_Mutation_p.R167C NM_001128227.2 NP_001121699.1 Q9Y223 GLCNE_HUMAN glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 277 cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 STAD - Stomach adenocarcinoma(86;0.228) TTAACTGCACGAAAGTTGGGA 0.463000 14 84 0 0 1 0 0 BMP1 649 broad.mit.edu 37 8 22051684 22051684 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr8:22051684G>A ENST00000306385.5 + 10 1964 c.1294G>A c.(1294-1296)Gaa>Aaa p.E432K BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Missense_Mutation_p.E432K|BMP1_ENST00000397816.3_Missense_Mutation_p.E432K|BMP1_ENST00000306349.8_Missense_Mutation_p.E432K NM_006129.4 NP_006120.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 432 CUB 1. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) TGCAGTCTACGAAGGTACTGA 0.572000 8 60 0 0 1 0 0 BTBD8 284697 broad.mit.edu 37 1 92568216 92568216 + Silent SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr1:92568216C>T ENST00000370382.3 + 3 801 c.534C>T c.(532-534)ttC>ttT p.F178F BTBD8_ENST00000342818.3_Silent_p.F178F|BTBD8_ENST00000540648.1_Silent_p.F178F Q5XKL5 BTBD8_HUMAN BTB (POZ) domain containing 8 178 nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1) 16 all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222) all cancers(265;0.0153)|Epithelial(280;0.0982) ATGATGATTTCATTTCCAATG 0.323000 4 16 0 0 1 0 0 TNPO2 30000 broad.mit.edu 37 19 12812644 12812644 + Missense_Mutation SNP G G C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr19:12812644G>C ENST00000425528.1 - 23 2790 c.2433C>G c.(2431-2433)atC>atG p.I811M TNPO2_ENST00000441499.1_Missense_Mutation_p.I801M|TNPO2_ENST00000588216.1_Missense_Mutation_p.I801M|TNPO2_ENST00000356861.5_Missense_Mutation_p.I801M|TNPO2_ENST00000450764.2_Missense_Mutation_p.I801M|TNPO2_ENST00000592287.1_Missense_Mutation_p.I811M O14787 TNPO2_HUMAN transportin 2 811 intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CGTTGTCCCTGATGTTCCTGA 0.627000 7 64 0 0 1 0 0 MYC 4609 broad.mit.edu 37 8 128750924 128750924 + Missense_Mutation SNP C C G TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr8:128750924C>G ENST00000377970.2 + 2 971 c.461C>G c.(460-462)tCg>tGg p.S154W MYC_ENST00000524013.1_Missense_Mutation_p.S153W|MYC_ENST00000259523.6_Missense_Mutation_p.S139W NM_002467.4 NP_002458.2 P01106 MYC_HUMAN v-myc avian myelocytomatosis viral oncogene homolog 139 branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) AGCGGCTTCTCGGCCGCCGCC 0.622000 3 """A, T""" """IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@""" """Burkitt lymphoma, amplified in other cancers, B-CLL""" OREG0018982 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 34 0 0 1 0 0 HIBCH 26275 broad.mit.edu 37 2 191109624 191109624 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr2:191109624C>T ENST00000392332.3 - 11 1019 c.880G>A c.(880-882)Gag>Aag p.E294K HIBCH_ENST00000410045.1_Missense_Mutation_p.E71K|HIBCH_ENST00000359678.5_Missense_Mutation_p.E294K Q6NVY1 HIBCH_HUMAN 3-hydroxyisobutyryl-CoA hydrolase 294 branched chain family amino acid catabolic process mitochondrial matrix 3-hydroxyisobutyryl-CoA hydrolase activity|protein binding NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814) TTCAATTGCTCTAGGGCAAAA 0.398000 11 39 0 0 1 0 0 LIG3 3980 broad.mit.edu 37 17 33331362 33331362 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr17:33331362G>A ENST00000378526.4 + 20 3000 c.2867G>A c.(2866-2868)aGa>aAa p.R956K NM_013975.3 NP_039269.2 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent 956 BRCT. base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1) 31 Ovarian(249;0.17) Bleomycin(DB00290) AGCCGTCTCAGACGCTACTTT 0.577000 Other BER factors 6 72 0 0 1 0 0 HMBOX1 79618 broad.mit.edu 37 8 28876293 28876293 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr8:28876293G>A ENST00000397358.3 + 7 1418 c.714G>A c.(712-714)atG>atA p.M238I HMBOX1_ENST00000444075.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000519047.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000558662.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000524238.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000523613.1_Missense_Mutation_p.M238I|HMBOX1_ENST00000403668.2_Missense_Mutation_p.M238I|HMBOX1_ENST00000355231.5_Missense_Mutation_p.M238I|HMBOX1_ENST00000287701.10_Missense_Mutation_p.M238I NM_024567.3 NP_078843.2 Q6NT76 HMBX1_HUMAN homeobox containing 1 238 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.M238I(1) cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 11 Ovarian(32;0.0192) KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161) CACTAAGTATGAGACCAGCCC 0.453000 3 48 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2088645 2088645 + Splice_Site SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr8:2088645G>A ENST00000262113.4 + 33 3941 c.e33-1 MYOM2_ENST00000523438.1_Splice_Site NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CTCTTTTCAAGAGATGCTAAG 0.483000 8 32 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29451853 29451853 + Silent SNP A A G TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr2:29451853A>G ENST00000389048.3 - 16 3618 c.2712T>C c.(2710-2712)caT>caC p.H904H ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 904 Gly-rich. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GGGGGCAGGAATGTCCTCCGG 0.607000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 3 27 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44075077 44075077 + Missense_Mutation SNP C C G TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr1:44075077C>G ENST00000359947.4 + 22 4221 c.3881C>G c.(3880-3882)tCt>tGt p.S1294C PTPRF_ENST00000372414.3_Missense_Mutation_p.S1294C|PTPRF_ENST00000372413.3_Missense_Mutation_p.S1285C|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.S642C|PTPRF_ENST00000438120.1_Missense_Mutation_p.S1285C NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1294 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) TCTCCGTCCTCTAAGGATGAG 0.587000 9 20 0 0 1 0 0 LAMC1 3915 broad.mit.edu 37 1 183079669 183079669 + Missense_Mutation SNP G G C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr1:183079669G>C ENST00000258341.4 + 4 1158 c.901G>C c.(901-903)Gat>Cat p.D301H NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 301 Laminin EGF-like 1. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAACGAATTTGATAAGCTGGT 0.438000 12 101 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139909058 139909058 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr5:139909058C>T ENST00000297183.6 + 29 6651 c.6527C>T c.(6526-6528)gCa>gTa p.A2176V ANKHD1_ENST00000544120.1_Missense_Mutation_p.A559V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.A2176V|ANKHD1_ENST00000360839.2_Missense_Mutation_p.A2176V NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCACCAGCTGCAGTGCAGCTT 0.443000 10 93 0 0 1 0 0 CASP8 841 broad.mit.edu 37 2 202136252 202136252 + Nonsense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr2:202136252C>T ENST00000358485.4 + 3 692 c.496C>T c.(496-498)Cag>Tag p.Q166* CASP8_ENST00000392266.3_Nonsense_Mutation_p.Q107*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q107*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.Q107*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.Q107*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q107*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q139*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.Q107* NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 107 DED 2. activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 CATGCTCTATCAGATTTCAGA 0.393000 HNSCC(4;0.00038) 12 22 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104499919 104499919 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr9:104499919C>T ENST00000361820.3 - 1 943 c.343G>A c.(343-345)Gag>Aag p.E115K NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 115 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) CTGGCGCCCTCCCCGGGCTTA 0.726000 6 32 0 0 1 0 0 NPR3 4883 broad.mit.edu 37 5 32724837 32724837 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr5:32724837G>A ENST00000265074.8 + 2 1146 c.803G>A c.(802-804)cGg>cAg p.R268Q NPR3_ENST00000415685.2_Missense_Mutation_p.R52Q|NPR3_ENST00000434067.2_Missense_Mutation_p.R52Q|NPR3_ENST00000415167.2_Missense_Mutation_p.R268Q NM_000908.3|NM_001204375.1 NP_000899.1|NP_001191304.1 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) 268 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) GACACCATCCGGAGCATCATG 0.532000 5 51 0 0 1 0 0 CCNL2 81669 broad.mit.edu 37 1 1322615 1322615 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr1:1322615C>T ENST00000400809.3 - 11 1564 c.1559G>A c.(1558-1560)aGg>aAg p.R520K CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Missense_Mutation_p.R298K NM_030937.4 NP_112199.2 Q96S94 CCNL2_HUMAN cyclin L2 520 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) CCCGCCTCACCTCCGATGCCT 0.642000 9 81 0 0 1 0 0 RUFY3 22902 broad.mit.edu 37 4 71660571 71660571 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr4:71660571G>A ENST00000381006.3 + 14 2096 c.1517G>A c.(1516-1518)aGc>aAc p.S506N RUFY3_ENST00000502653.1_Missense_Mutation_p.S453N NM_001037442.2 NP_001032519.1 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 341 negative regulation of axonogenesis filopodium|growth cone endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) AACGACAGGAGCATCCCAGGA 0.373000 4 30 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123419831 123419831 + Silent SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr3:123419831G>A ENST00000360772.3 - 19 2862 c.2484C>T c.(2482-2484)tgC>tgT p.C828C MYLK_ENST00000360304.3_Silent_p.C828C|MYLK_ENST00000359169.1_Silent_p.C828C|MYLK_ENST00000346322.5_Silent_p.C759C|MYLK_ENST00000475616.1_Silent_p.C828C Q15746 MYLK_HUMAN myosin light chain kinase 828 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) AGAGGTCCTCGCAGCTGGCAG 0.587000 10 59 0 0 1 0 0 CYP26B1 56603 broad.mit.edu 37 2 72359628 72359628 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr2:72359628C>T ENST00000001146.2 - 6 1470 c.1267G>A c.(1267-1269)Gag>Aag p.E423K CYP26B1_ENST00000412253.1_Missense_Mutation_p.E232K|CYP26B1_ENST00000546307.1_Missense_Mutation_p.E348K NM_001277742.1|NM_019885.2 NP_001264671.1|NP_063938.1 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily B, polypeptide 1 423 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2) 28 TCCTTGTCCTCGCTCCGCGCC 0.622000 10 55 0 0 1 0 0 ASL 435 broad.mit.edu 37 7 65557846 65557846 + Missense_Mutation SNP G G A rs139410488 TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr7:65557846G>A ENST00000304874.9 + 17 1444 c.1342G>A c.(1342-1344)Gtc>Atc p.V448I ASL_ENST00000395331.3_Missense_Mutation_p.V428I|ASL_ENST00000395332.3_Missense_Mutation_p.V448I|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000380839.4_Missense_Mutation_p.V422I|AC068533.7_ENST00000450043.1_Intron NM_000048.3 NP_000039.2 P04424 ARLY_HUMAN argininosuccinate lyase 448 arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 18 L-Arginine(DB00125) GCGCTCCAGCGTCGACTGGCA 0.672000 5 66 0 0 1 0 0 PDE2A 5138 broad.mit.edu 37 11 72296611 72296611 + Silent SNP G G C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr11:72296611G>C ENST00000334456.5 - 15 1454 c.1209C>G c.(1207-1209)ctC>ctG p.L403L PDE2A_ENST00000376450.3_Silent_p.L147L|PDE2A_ENST00000540345.1_Silent_p.L394L|PDE2A_ENST00000444035.2_Silent_p.L394L|PDE2A_ENST00000544570.1_Silent_p.L396L|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000418754.2_Silent_p.L288L NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 403 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) GGTGGGTGAAGAGGTTCTTTG 0.592000 OREG0021196 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 16 0 0 1 0 0 TRDMT1 1787 broad.mit.edu 37 10 17199505 17199505 + Silent SNP C C T rs145913291 TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr10:17199505C>T ENST00000377799.3 - 8 869 c.822G>A c.(820-822)ctG>ctA p.L274L TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000351358.4_Silent_p.L228L|TRDMT1_ENST00000412821.3_Silent_p.L250L|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000488990.1_Silent_p.L151L|TRDMT1_ENST00000457442.2_Silent_p.L193L|TRDMT1_ENST00000452380.2_5'UTR NM_004412.5 NP_004403.1 O14717 TRDMT_HUMAN tRNA aspartic acid methyltransferase 1 274 tRNA processing nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 18 GAGCATATCGCAGCAATGACT 0.383000 3 34 0 0 1 0 0 MARCH6 10299 broad.mit.edu 37 5 10411555 10411555 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr5:10411555G>A ENST00000274140.5 + 19 1934 c.1802G>A c.(1801-1803)gGa>gAa p.G601E MARCH6_ENST00000503788.1_Missense_Mutation_p.G496E|MARCH6_ENST00000449913.2_Missense_Mutation_p.G553E|MARCH6_ENST00000510792.1_Missense_Mutation_p.G299E NM_005885.2 NP_005876.2 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase 601 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3) 54 CCTGTGGTGGGAGAAGGCCTT 0.463000 6 48 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256961 140256961 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr5:140256961G>A ENST00000398631.2 + 1 1904 c.1904G>A c.(1903-1905)cGc>cAc p.R635H PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCACGACACGCATCCTGGAT 0.677000 11 83 0 0 1 0 0 SLITRK6 84189 broad.mit.edu 37 13 86369739 86369739 + Missense_Mutation SNP G G C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr13:86369739G>C ENST00000400286.2 - 2 1503 c.905C>G c.(904-906)tCc>tGc p.S302C NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 302 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) TTTTAGAATGGACGTGGTCTT 0.428000 7 46 0 0 1 0 0 DNAJC6 9829 broad.mit.edu 37 1 65851492 65851492 + Missense_Mutation SNP T T C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr1:65851492T>C ENST00000395325.3 + 7 884 c.727T>C c.(727-729)Ttt>Ctt p.F243L DNAJC6_ENST00000263441.7_Missense_Mutation_p.F230L|DNAJC6_ENST00000371069.4_Missense_Mutation_p.F300L|DNAJC6_ENST00000498720.1_3'UTR NM_014787.3 NP_055602.1 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 243 C2 tensin-type. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1) 39 TCCAATACCCTTTTTCAACAA 0.438000 4 47 0 0 1 0 0 TTC14 151613 broad.mit.edu 37 3 180328270 180328270 + Silent SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr3:180328270G>A ENST00000296015.4 + 12 2385 c.2253G>A c.(2251-2253)ctG>ctA p.L751L TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron NM_133462.3 NP_597719.1 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 751 RNA binding endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) AGAATTTACTGAATATATTTA 0.323000 4 25 0 0 1 0 0 WFS1 7466 broad.mit.edu 37 4 6303712 6303712 + Missense_Mutation SNP G G C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr4:6303712G>C ENST00000226760.1 + 8 2360 c.2190G>C c.(2188-2190)tgG>tgC p.W730C WFS1_ENST00000503569.1_Missense_Mutation_p.W730C NM_001145853.1|NM_006005.3 NP_001139325.1|NP_005996.2 O76024 WFS1_HUMAN Wolfram syndrome 1 (wolframin) 730 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) TCGGCGACTGGATGCGCTGCC 0.642000 6 29 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 84027938 84027938 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr11:84027938G>A ENST00000280241.8 - 1 250 c.251C>T c.(250-252)aCg>aTg p.T84M DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000398301.2_Missense_Mutation_p.T84M|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron NM_001206769.1 NP_001193698.1 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 0 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) CTTGGTGCTCGTCTTGTGGGG 0.582000 14 54 0 0 1 0 0 JTB 10899 broad.mit.edu 37 1 153947166 153947166 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr1:153947166C>T ENST00000271843.4 - 5 865 c.430G>A c.(430-432)Gag>Aag p.E144K JTB_ENST00000356648.1_Missense_Mutation_p.E115K|JTB_ENST00000368589.1_Missense_Mutation_p.E115K NM_006694.3 NP_006685.1 O76095 JTB_HUMAN jumping translocation breakpoint 144 apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle protein kinase binding endometrium(1)|kidney(1)|large_intestine(2)|lung(6) 10 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TATATGGACTCGATTTGCTTC 0.483000 13 92 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G G A rs121913388 TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr9:21971120G>A ENST00000304494.5 - 2 508 c.238C>T c.(238-240)Cga>Tga p.R80* CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 80 R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TGCACGGGTCGGGTGAGAGTG 0.726000 R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 5 23 0 0 1 0 0 OR13C8 138802 broad.mit.edu 37 9 107331475 107331475 + Silent SNP G G C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr9:107331475G>C ENST00000335040.1 + 1 27 c.27G>C c.(25-27)tcG>tcC p.S9S NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 ATTCCACGTCGACAGAATTTT 0.418000 11 71 0 0 1 0 0 TDRD3 81550 broad.mit.edu 37 13 61059979 61059979 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr13:61059979G>A ENST00000196169.3 + 7 1123 c.335G>A c.(334-336)aGa>aAa p.R112K TDRD3_ENST00000535286.1_Missense_Mutation_p.R205K|TDRD3_ENST00000377881.2_Missense_Mutation_p.R112K|TDRD3_ENST00000377894.2_Missense_Mutation_p.R112K NM_001146071.1|NM_030794.2 NP_001139543.1|NP_110421.1 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 112 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) CTTGATCGAAGAAAAACATTG 0.363000 3 11 0 0 1 0 0 OSBPL1A 114876 broad.mit.edu 37 18 21747360 21747360 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr18:21747360C>T ENST00000319481.3 - 25 2674 c.2468G>A c.(2467-2469)aGt>aAt p.S823N OSBPL1A_ENST00000399443.3_Missense_Mutation_p.S310N|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.S441N NM_080597.3 NP_542164.2 Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A 823 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) AATGAATACACTTTCAGAATC 0.458000 9 62 0 0 1 0 0 FAF1 11124 broad.mit.edu 37 1 51050456 51050456 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr1:51050456C>T ENST00000396153.2 - 10 1319 c.868G>A c.(868-870)Gat>Aat p.D290N FAF1_ENST00000371778.4_Missense_Mutation_p.D290N|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000545823.1_Missense_Mutation_p.D48N NM_007051.2 NP_008982.1 Q9UNN5 FAF1_HUMAN Fas (TNFRSF6) associated factor 1 290 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity p.0?(1) breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) CCATCGCTATCACTAACCATA 0.363000 5 24 0 0 1 0 0 ABCB4 5244 broad.mit.edu 37 7 87072993 87072993 + Nonsense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr7:87072993G>A ENST00000265723.4 - 11 1327 c.1216C>T c.(1216-1218)Cga>Tga p.R406* ABCB4_ENST00000359206.3_Nonsense_Mutation_p.R406*|ABCB4_ENST00000358400.3_Nonsense_Mutation_p.R406*|ABCB4_ENST00000453593.1_Nonsense_Mutation_p.R406*|ABCB4_ENST00000545634.1_Nonsense_Mutation_p.R406* NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 406 ABC transporter 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) ACGTTAGCTCGAGAAGGGTAA 0.333000 3 18 0 0 1 0 0 GAPDH 2597 broad.mit.edu 37 12 6646891 6646891 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr12:6646891G>A ENST00000229239.5 + 8 1333 c.667G>A c.(667-669)Gag>Aag p.E223K GAPDH_ENST00000396861.1_Missense_Mutation_p.E223K|GAPDH_ENST00000396858.1_Missense_Mutation_p.E181K|GAPDH_ENST00000396856.1_Missense_Mutation_p.E148K|GAPDH_ENST00000396859.1_Missense_Mutation_p.E223K NM_002046.4 NP_002037.2 P04406 G3P_HUMAN glyceraldehyde-3-phosphate dehydrogenase 223 gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization cytosol|membrane|nucleus|perinuclear region of cytoplasm glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4) 7 NADH(DB00157) GGTCATCCCTGAGCTGAACGG 0.607000 OREG0021628 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 44 0 0 1 0 0 CHID1 66005 broad.mit.edu 37 11 870490 870490 + Splice_Site SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr11:870490C>T ENST00000526714.1 - 9 905 c.e9-1 CHID1_ENST00000454838.2_Silent_p.Q348Q|CHID1_ENST00000449825.1_Silent_p.Q323Q|CHID1_ENST00000323578.8_Silent_p.Q323Q|CHID1_ENST00000528581.1_Silent_p.Q348Q|CHID1_ENST00000429789.2_Silent_p.Q292Q|CHID1_ENST00000323541.7_Silent_p.Q353Q|CHID1_ENST00000336845.5_Silent_p.Q348Q|CHID1_ENST00000436108.2_Silent_p.Q323Q Q9BWS9 CHID1_HUMAN chitinase domain containing 1 chitin catabolic process|innate immune response extracellular region|lysosome cation binding|chitinase activity endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 13 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735) CCTTCAGTGTCTGGATGTACC 0.607000 4 10 0 0 1 0 0 TMPRSS3 64699 broad.mit.edu 37 21 43803206 43803206 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr21:43803206G>A ENST00000291532.3 - 8 1673 c.718C>T c.(718-720)Cac>Tac p.H240Y TMPRSS3_ENST00000380399.1_Missense_Mutation_p.H324Y|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.H240Y|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.H238Y|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.H240Y|TMPRSS3_ENST00000474596.1_5'UTR NM_032404.2 NP_115780.1 P57727 TMPS3_HUMAN transmembrane protease, serine 3 240 Peptidase S1. cellular sodium ion homeostasis|proteolysis endoplasmic reticulum membrane|integral to membrane scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1) 13 CCGCACAGGTGGTAGCCCTGG 0.587000 8 43 0 0 1 0 0 LINC00461 645323 broad.mit.edu 37 5 87962731 87962731 + RNA SNP G G C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr5:87962731G>C ENST00000384838.1 - 0 26 NR_030741.1 CATACAGCTAGATAACCAAAG 0.483000 3 1 0 0 1 0 0 GOLGA2 2801 broad.mit.edu 37 9 131021583 131021583 + Nonsense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr9:131021583G>A ENST00000421699.2 - 19 1891 c.1879C>T c.(1879-1881)Cag>Tag p.Q627* NM_004486.4 NP_004477.3 Q08379 GOGA2_HUMAN golgin A2 627 Golgi cisterna membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 GTCAGCTGCTGATAGGCGGCC 0.587000 3 25 0 0 1 0 0 NYAP1 222950 broad.mit.edu 37 7 100086246 100086246 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr7:100086246G>A ENST00000423930.1 + 4 1061 c.902G>A c.(901-903)cGc>cAc p.R301H NYAP1_ENST00000300179.2_Missense_Mutation_p.R301H|NYAP1_ENST00000454988.1_Missense_Mutation_p.R244H Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 301 Pro-rich. CATGCCCACCGCCGCCCAGCT 0.692000 11 88 0 0 1 0 0 VPS4A 27183 broad.mit.edu 37 16 69353412 69353412 + Missense_Mutation SNP G G T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr16:69353412G>T ENST00000254950.11 + 6 742 c.586G>T c.(586-588)Gat>Tat p.D196Y RP11-343C2.3_ENST00000570054.2_Missense_Mutation_p.D220Y|VPS4A_ENST00000569775.1_Intron NM_013245.2 NP_037377.1 Q9UN37 VPS4A_HUMAN vacuolar protein sorting 4 homolog A (S. cerevisiae) 196 cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3) 7 Ovarian(137;0.101) GTCCTCCTCAGATCTGATGTC 0.602000 6 35 3.59834e-05 3.72817e-05 1 1 0 SUPT16H 11198 broad.mit.edu 37 14 21822620 21822620 + Missense_Mutation SNP C C G TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr14:21822620C>G ENST00000216297.2 - 23 3078 c.2740G>C c.(2740-2742)Gag>Cag p.E914Q NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 914 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) AAGAAGCCCTCAGGGTCATCA 0.488000 7 42 0 0 1 0 0 CHID1 66005 broad.mit.edu 37 11 870480 870480 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr11:870480C>T ENST00000449825.1 - 11 1335 c.979G>A c.(979-981)Gac>Aac p.D327N CHID1_ENST00000454838.2_Missense_Mutation_p.D352N|CHID1_ENST00000323578.8_Missense_Mutation_p.D327N|CHID1_ENST00000528581.1_Missense_Mutation_p.D352N|CHID1_ENST00000429789.2_Missense_Mutation_p.D296N|CHID1_ENST00000323541.7_Missense_Mutation_p.D357N|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000336845.5_Missense_Mutation_p.D352N|CHID1_ENST00000436108.2_Missense_Mutation_p.D327N NM_001142675.1 NP_001136147.1 Q9BWS9 CHID1_HUMAN chitinase domain containing 1 327 chitin catabolic process|innate immune response extracellular region|lysosome cation binding|chitinase activity endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 13 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735) GGCCTGTGGTCCTTCAGTGTC 0.597000 4 10 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112650328 112650328 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr12:112650328G>A ENST00000550722.1 - 49 7549 c.7154C>T c.(7153-7155)tCt>tTt p.S2385F HECTD4_ENST00000430131.2_Missense_Mutation_p.S2109F|HECTD4_ENST00000377560.5_Missense_Mutation_p.S2359F NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 CATGCCACCAGAGACGTCTTC 0.527000 12 82 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14824903 14824903 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr9:14824903C>T ENST00000380881.4 - 12 2787 c.1972G>A c.(1972-1974)Gag>Aag p.E658K FREM1_ENST00000422223.2_Missense_Mutation_p.E657K|FREM1_ENST00000380880.3_Missense_Mutation_p.E657K Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 657 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TAGGCCACCTCAGTTTCCTTG 0.408000 3 16 0 0 1 0 0 DIAPH2 1730 broad.mit.edu 37 X 96171501 96171501 + Missense_Mutation SNP C C G TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chrX:96171501C>G ENST00000324765.8 + 8 1144 c.797C>G c.(796-798)cCc>cGc p.P266R DIAPH2_ENST00000373049.4_Missense_Mutation_p.P266R|DIAPH2_ENST00000355827.4_Missense_Mutation_p.P266R|DIAPH2_ENST00000373054.4_Missense_Mutation_p.P262R|DIAPH2_ENST00000373061.3_Missense_Mutation_p.P266R O60879 DIAP2_HUMAN diaphanous-related formin 2 266 GBD/FH3. 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 GCAATTGACCCCAAACAACCC 0.303000 5 11 0 0 1 0 0 CES1 1066 broad.mit.edu 37 16 55862697 55862697 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr16:55862697G>A ENST00000422046.2 - 2 520 c.239C>T c.(238-240)gCc>gTc p.A80V CES1_ENST00000360526.3_Missense_Mutation_p.A81V|CES1_ENST00000361503.4_Missense_Mutation_p.A80V P23141 EST1_HUMAN carboxylesterase 1 80 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) GTACGAGGTGGCATTCTTCAC 0.552000 3 46 0 0 1 0 0 SFTPA2 729238 broad.mit.edu 37 10 81317043 81317043 + Missense_Mutation SNP C C G TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr10:81317043C>G ENST00000372325.2 - 6 753 c.669G>C c.(667-669)caG>caC p.Q223H SFTPA2_ENST00000372327.5_Missense_Mutation_p.Q223H NM_001098668.2 NP_001092138.1 Q8IWL1 SFPA2_HUMAN surfactant protein A2 223 C-type lectin. Q -> K (in allele 1A(1), allele 1A(3) and allele 1A(4); dbSNP:rs1965708). cell junction assembly|respiratory gaseous exchange collagen|extracellular space sugar binding endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) TCTCCACACACTGCTCTTTTC 0.562000 Pulmonary Fibrosis, Idiopathic 22 200 0 0 1 0 0 PGAM2 5224 broad.mit.edu 37 7 44104787 44104787 + Missense_Mutation SNP G G C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr7:44104787G>C ENST00000297283.3 - 1 399 c.342C>G c.(340-342)atC>atG p.I114M AC017116.11_ENST00000445938.1_RNA NM_000290.3 NP_000281.2 P15259 PGAM2_HUMAN phosphoglycerate mutase 2 (muscle) 114 KI -> RS (in Ref. 3; AAA60072). gluconeogenesis|glycolysis|striated muscle contraction cytosol 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity p.I114I(1) large_intestine(2)|lung(4)|ovary(1)|stomach(1) 8 AGCGCCTCCAGATCTTCACCT 0.627000 9 48 0 0 1 0 0 FAM111A 63901 broad.mit.edu 37 11 58919996 58919996 + Silent SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr11:58919996G>A ENST00000528737.1 + 5 3673 c.855G>A c.(853-855)gaG>gaA p.E285E FAM111A_ENST00000420244.1_Silent_p.E285E|FAM111A_ENST00000533703.1_Silent_p.E285E|FAM111A_ENST00000361723.3_Silent_p.E285E|FAM111A_ENST00000531147.1_Silent_p.E285E Q96PZ2 F111A_HUMAN family with sequence similarity 111, member A 285 proteolysis serine-type endopeptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_epithelial(135;0.139) CTGAGTCAGAGAAAAGAAACA 0.413000 6 32 0 0 1 0 0 CDK11B 984 broad.mit.edu 37 1 1572327 1572327 + Silent SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr1:1572327G>A ENST00000407249.3 - 17 1740 c.1741C>T c.(1741-1743)Ctg>Ttg p.L581L CDK11B_ENST00000317673.7_Silent_p.L579L|CDK11B_ENST00000341832.6_Silent_p.L534L|CDK11B_ENST00000340677.5_Silent_p.L568L P21127 CD11B_HUMAN cyclin-dependent kinase 11B 591 Protein kinase. apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2) 12 TAGGCCTTCAGAGGGGATCCG 0.677000 5 35 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121413963 121413963 + Missense_Mutation SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr3:121413963C>T ENST00000393667.3 - 13 5517 c.5407G>A c.(5407-5409)Gaa>Aaa p.E1803K GOLGB1_ENST00000340645.5_Missense_Mutation_p.E1798K NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 1798 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TCTTGCTCTTCAGTCTCACCT 0.453000 15 97 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 56077040 56077040 + Silent SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa15c9f3-b792-421a-98ad-43cab2fbbd85 9c528da7-a9c8-44be-bbd0-a38f25b8800d g.chr10:56077040C>T ENST00000373965.2 - 8 1261 c.867G>A c.(865-867)ttG>ttA p.L289L PCDH15_ENST00000361849.3_Silent_p.L289L|PCDH15_ENST00000373957.3_Silent_p.L267L|PCDH15_ENST00000395433.1_Silent_p.L267L|PCDH15_ENST00000395432.2_Silent_p.L252L|PCDH15_ENST00000395442.1_Silent_p.L289L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Silent_p.L289L|PCDH15_ENST00000395430.1_Silent_p.L289L|PCDH15_ENST00000395438.1_Silent_p.L289L|PCDH15_ENST00000373955.1_Silent_p.L289L|PCDH15_ENST00000320301.6_Silent_p.L289L|PCDH15_ENST00000395446.1_Silent_p.L289L|PCDH15_ENST00000395445.1_Silent_p.L289L|PCDH15_ENST00000437009.1_Silent_p.L289L|PCDH15_ENST00000414778.1_Silent_p.L294L NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 289 Cadherin 3. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CCGGAGTTCTCAACTCAGGTA 0.383000 HNSCC(58;0.16) 7 33 0 0 1 0 0