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 BTBD7 55727 broad.mit.edu 37 14 93708856 93708856 + Silent SNP G G A TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr14:93708856G>A ENST00000334746.5 - 11 3469 c.3162C>T c.(3160-3162)gtC>gtT p.V1054V BTBD7_ENST00000393170.2_Silent_p.V628V|BTBD7_ENST00000554565.1_Silent_p.V703V NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 1054 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) TTCGTCCCCTGACATGGGCTG 0.527000 41 77 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114215328 114215328 + Missense_Mutation SNP G G A TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr1:114215328G>A ENST00000369615.1 + 18 3072 c.3010G>A c.(3010-3012)Gca>Aca p.A1004T MAGI3_ENST00000369617.4_Missense_Mutation_p.A1029T|MAGI3_ENST00000307546.9_Missense_Mutation_p.A1004T|MAGI3_ENST00000369611.4_Missense_Mutation_p.A1004T NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 1029 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GCCTGACACCGCAGTAATTTC 0.458000 4 225 0 0 1 0 0 LAPTM4B 55353 broad.mit.edu 37 8 98817641 98817641 + Missense_Mutation SNP A A G TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr8:98817641A>G ENST00000445593.2 + 2 1113 c.433A>G c.(433-435)Aac>Gac p.N145D LAPTM4B_ENST00000521545.2_Missense_Mutation_p.N54D NM_018407.4 NP_060877.3 Q86VI4 LAP4B_HUMAN lysosomal protein transmembrane 4 beta 198 transport endomembrane system|integral to membrane protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 10 Breast(36;1.59e-06) OV - Ovarian serous cystadenocarcinoma(57;0.149) GGATCAGTATAACTTTTCAAG 0.378000 43 80 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128186 152128186 + Silent SNP A A G TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr1:152128186A>G ENST00000316073.3 - 3 1453 c.1389T>C c.(1387-1389)taT>taC p.Y463Y NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 463 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 CTGTCTGACCATAGTGGGAAC 0.512000 7 631 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 5 110 0 0 1 0 0 NOL8 55035 broad.mit.edu 37 9 95064090 95064090 + Missense_Mutation SNP T T C TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr9:95064090T>C ENST00000545558.1 - 13 3410 c.2918A>G c.(2917-2919)aAa>aGa p.K973R NOL8_ENST00000442668.2_Missense_Mutation_p.K973R|NOL8_ENST00000358855.4_Missense_Mutation_p.K905R|NOL8_ENST00000535387.1_Missense_Mutation_p.K935R|NOL8_ENST00000542053.1_Missense_Mutation_p.K905R Q76FK4 NOL8_HUMAN nucleolar protein 8 973 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 CCTTTTCTTTTTTCGTTTTGC 0.313000 3 3 0 0 1 0 0 MPO 4353 broad.mit.edu 37 17 56349039 56349039 + Silent SNP G G A TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr17:56349039G>A ENST00000340482.3 - 10 2279 c.2103C>T c.(2101-2103)ttC>ttT p.F701F MPO_ENST00000225275.3_Silent_p.F669F P05164 PERM_HUMAN myeloperoxidase 669 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) GGAGCTTCCTGAACTGGGTAC 0.642000 8 18 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 25982350 25982350 + Splice_Site SNP C C T TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr2:25982350C>T ENST00000435504.4 - 9 1233 c.e9+1 ASXL2_ENST00000272341.4_Splice_Site|ASXL2_ENST00000336112.4_Splice_Site|ASXL2_ENST00000404843.1_Splice_Site Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAATGACGCACCTGTCGATCT 0.373000 19 42 0 0 1 0 0 DLX5 1749 broad.mit.edu 37 7 96653671 96653671 + Missense_Mutation SNP C C T TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr7:96653671C>T ENST00000222598.4 - 1 738 c.265G>A c.(265-267)Gcc>Acc p.A89T DLX5_ENST00000493764.1_5'UTR|DLX5_ENST00000486603.2_Missense_Mutation_p.A89T NM_005221.5 NP_005212.1 P56178 DLX5_HUMAN distal-less homeobox 5 89 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1) 20 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) TAAGCTTTGGCTGGGTAGCTC 0.602000 20 29 0 0 1 0 0 TLR2 7097 broad.mit.edu 37 4 154624745 154624745 + Missense_Mutation SNP T T C TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr4:154624745T>C ENST00000260010.6 + 1 2094 c.686T>C c.(685-687)cTg>cCg p.L229P NM_003264.3 NP_003255.2 O60603 TLR2_HUMAN toll-like receptor 2 229 cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) TGTTTGGAACTGCGAGATACT 0.338000 26 49 0 0 1 0 0 ADNP2 22850 broad.mit.edu 37 18 77895268 77895268 + Missense_Mutation SNP G G A TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr18:77895268G>A ENST00000262198.4 + 4 2427 c.1972G>A c.(1972-1974)Ggc>Agc p.G658S NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 658 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G658S(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) TTCCATGCCCGGCATGCCCTC 0.632000 3 46 0 0 1 0 0 ALDH7A1 501 broad.mit.edu 37 5 125887739 125887739 + Missense_Mutation SNP G G C TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr5:125887739G>C ENST00000409134.3 - 14 1510 c.1291C>G c.(1291-1293)Ccg>Gcg p.P431A ALDH7A1_ENST00000447989.2_Missense_Mutation_p.P394A|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.P367A NM_001182.4|NM_001201377.1 NP_001173.2|NP_001188306.1 P49419 AL7A1_HUMAN aldehyde dehydrogenase 7 family, member A1 431 cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound cytosol|mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.24)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109) NADH(DB00157)|Pyridoxine(DB00165) TAGAGAATCGGAGCAAAAGTC 0.398000 5 28 0 0 1 0 0 EYA3 2140 broad.mit.edu 37 1 28365380 28365380 + Missense_Mutation SNP T T C TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr1:28365380T>C ENST00000373871.3 - 5 434 c.194A>G c.(193-195)aAt>aGt p.N65S EYA3_ENST00000373863.3_Missense_Mutation_p.N65S|EYA3_ENST00000545175.1_Missense_Mutation_p.N12S|EYA3_ENST00000540618.1_Missense_Mutation_p.N65S|EYA3_ENST00000373864.1_Start_Codon_SNP_p.M1V|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000436342.2_5'UTR Q99504 EYA3_HUMAN eyes absent homolog 3 (Drosophila) 65 anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception cytoplasm metal ion binding|protein binding|protein tyrosine phosphatase activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642) GGTATAATCATTGGATGAGCG 0.303000 20 31 0 0 1 0 0 UBB 7314 broad.mit.edu 37 17 16285788 16285788 + Silent SNP C C T TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr17:16285788C>T ENST00000302182.3 + 2 959 c.567C>T c.(565-567)ccC>ccT p.P189P UBB_ENST00000578649.1_3'UTR|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.P189P|UBB_ENST00000395839.1_Silent_p.P189P|UBB_ENST00000535788.1_Silent_p.P113P NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 189 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.P189P(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AAGGCATCCCCCCCGACCAGC 0.552000 4 58 0 0 1 0 0 TCERG1 10915 broad.mit.edu 37 5 145838644 145838644 + Silent SNP G G A TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr5:145838644G>A ENST00000296702.5 + 4 674 c.636G>A c.(634-636)caG>caA p.Q212Q TCERG1_ENST00000394421.2_Silent_p.Q212Q NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 212 Ala/Gln-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity p.Q212Q(1) breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ctcaggcccaggcccaggccc 0.736000 3 30 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9066665 9066665 + Missense_Mutation SNP C C T rs151007766 TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr5:9066665C>T ENST00000382496.5 - 17 2832 c.2167G>A c.(2167-2169)Ggc>Agc p.G723S NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 723 TSP type-1 4. G -> D (in Ref. 1; AAC09473). cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 TCATAGTGGCCGCCGTTGTCA 0.547000 12 88 0 0 1 0 0 ZNF577 84765 broad.mit.edu 37 19 52383622 52383622 + Missense_Mutation SNP G G A TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr19:52383622G>A ENST00000420592.1 - 3 1347 c.14C>T c.(13-15)aCg>aTg p.T5M ZNF577_ENST00000412216.1_Missense_Mutation_p.T5M|ZNF577_ENST00000301399.5_Missense_Mutation_p.T5M|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.T5M Q9BSK1 ZN577_HUMAN zinc finger protein 577 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) cattacaatcgtggcattttt 0.418000 51 67 0 0 1 0 0 DOK2 9046 broad.mit.edu 37 8 21767171 21767171 + Missense_Mutation SNP C C T TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr8:21767171C>T ENST00000276420.4 - 5 1148 c.890G>A c.(889-891)gGg>gAg p.G297E DOK2_ENST00000544659.1_Missense_Mutation_p.G143E NM_003974.2 NP_003965.2 O60496 DOK2_HUMAN docking protein 2, 56kDa 297 blood coagulation|leukocyte migration cytosol identical protein binding|insulin receptor binding NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1) 26 Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) GGCATACTCCCCCTCCTGGCC 0.677000 20 44 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4919742 4919742 + Missense_Mutation SNP G G A TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr12:4919742G>A ENST00000433855.1 + 1 1401 c.535G>A c.(535-537)Gtc>Atc p.V179I KCNA6_ENST00000280684.3_Missense_Mutation_p.V179I NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 179 voltage-gated potassium channel complex voltage-gated potassium channel activity p.V179I(1) NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 CATCGCCATCGTCTCCGTGTT 0.592000 HNSCC(72;0.22) 22 28 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29598982 29598982 + Silent SNP C C T TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr13:29598982C>T ENST00000431530.3 + 1 235 c.177C>T c.(175-177)gaC>gaT p.D59D NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 49 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CCTCTCATGACGAGTCCAAGA 0.418000 7 19 0 0 1 0 0 SYNPO 11346 broad.mit.edu 37 5 150029733 150029733 + Silent SNP G G T TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr5:150029733G>T ENST00000394243.1 + 3 3002 c.2628G>T c.(2626-2628)ctG>ctT p.L876L SYNPO_ENST00000519664.1_Silent_p.L632L|SYNPO_ENST00000307662.4_Silent_p.L632L|SYNPO_ENST00000522122.1_Silent_p.L876L NM_001166208.1 NP_001159680.1 Q8N3V7 SYNPO_HUMAN synaptopodin 876 Pro-rich. positive regulation of actin filament bundle assembly|regulation of stress fiber assembly actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction actin binding|protein binding NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2) 18 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGGACAGCCTGCAGCCCACTG 0.716000 32 54 5.09552e-08 5.40749e-08 1 1 0 MYOCD 93649 broad.mit.edu 37 17 12656007 12656007 + Missense_Mutation SNP G G A TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr17:12656007G>A ENST00000425538.1 + 10 1602 c.1402G>A c.(1402-1404)Gct>Act p.A468T MYOCD_ENST00000343344.4_Missense_Mutation_p.A468T|MYOCD_ENST00000395988.1_Missense_Mutation_p.A372T NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 468 Ser-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding p.A468T(1) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CCTGTCAGTCGCTGGGTCCCT 0.627000 17 36 0 0 1 0 0 OAS2 0 broad.mit.edu 37 12 113448256 113448256 + Missense_Mutation SNP A A T TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr12:113448256A>T ENST00000342315.4 + 11 2341 c.2127A>T c.(2125-2127)agA>agT p.R709S RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_3'UTR NM_016817.2 NP_058197.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 709 interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 GAAGCCATAGAATCCTGAATA 0.403000 66 131 0 0 1 0 0 MCF2L 23263 broad.mit.edu 37 13 113719371 113719371 + Missense_Mutation SNP C C T TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr13:113719371C>T ENST00000397030.1 + 7 864 c.827C>T c.(826-828)gCg>gTg p.A276V MCF2L_ENST00000375601.3_Missense_Mutation_p.A247V|MCF2L_ENST00000535094.2_Missense_Mutation_p.A243V|MCF2L_ENST00000375604.2_Missense_Mutation_p.A300V|MCF2L_ENST00000423482.2_Missense_Mutation_p.A241V|MCF2L_ENST00000375597.4_Missense_Mutation_p.A241V|MCF2L_ENST00000434480.2_Missense_Mutation_p.A249V|MCF2L_ENST00000442652.2_Missense_Mutation_p.A273V|MCF2L_ENST00000421756.1_Missense_Mutation_p.A247V|MCF2L_ENST00000375608.3_Missense_Mutation_p.A273V O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 273 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) GTGCTGTGTGCGCACACAGAG 0.622000 3 53 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163241399 163241399 + Missense_Mutation SNP G G T TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr2:163241399G>T ENST00000332142.5 - 13 2860 c.2761C>A c.(2761-2763)Cag>Aag p.Q921K NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 921 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TTGGAACTCTGATAATGTCTT 0.343000 33 58 7.11191e-15 8.03955e-15 1 1 0 CDH4 1002 broad.mit.edu 37 20 60419780 60419780 + Silent SNP C C T TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr20:60419780C>T ENST00000360469.5 + 5 721 c.633C>T c.(631-633)ggC>ggT p.G211G CDH4_ENST00000543233.1_Silent_p.G137G NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 211 Cadherin 1. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) CGGGAGTGGGCGCCGACCAGC 0.597000 10 27 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151945083 151945083 + Missense_Mutation SNP C C T TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr7:151945083C>T ENST00000355193.2 - 14 2654 c.2436G>A c.(2434-2436)atG>atA p.M812I KMT2C_ENST00000262189.6_Missense_Mutation_p.M812I lysine (K)-specific methyltransferase 2C AAGTTGTTGGCATGATGTTTC 0.448000 32 275 0 0 1 0 0 TAF6L 10629 broad.mit.edu 37 11 62546423 62546423 + Silent SNP G G A TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr11:62546423G>A ENST00000294168.3 + 6 720 c.519G>A c.(517-519)ccG>ccA p.P173P TMEM223_ENST00000527073.1_Intron NM_006473.3 NP_006464.1 Q9Y6J9 TAF6L_HUMAN TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 173 chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent histone deacetylase complex|STAGA complex DNA binding|protein binding|transcription coactivator activity endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1) 16 GGGATGATCCGCAACTGATGA 0.473000 4 81 0 0 1 0 0 MTUS1 57509 broad.mit.edu 37 8 17573324 17573324 + Missense_Mutation SNP G G C TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr8:17573324G>C ENST00000381869.3 - 4 2847 c.2374C>G c.(2374-2376)Cct>Gct p.P792A MTUS1_ENST00000544260.1_5'UTR|MTUS1_ENST00000519263.1_Missense_Mutation_p.P792A|MTUS1_ENST00000262102.6_Missense_Mutation_p.P846A|MTUS1_ENST00000381861.3_Missense_Mutation_p.P93A NM_001001925.2 NP_001001925.1 Q9ULD2 MTUS1_HUMAN microtubule associated tumor suppressor 1 846 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) GATACCAAAGGCTTCAAATAA 0.433000 47 67 0 0 1 0 0 MTMR4 9110 broad.mit.edu 37 17 56572509 56572509 + Silent SNP C C A TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr17:56572509C>A ENST00000323456.5 - 16 3118 c.2994G>T c.(2992-2994)ctG>ctT p.L998L MTMR4_ENST00000579925.1_Silent_p.L941L NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 998 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) AAGGGCAGTTCAGTGGAACGG 0.507000 4 126 0.00909568 0.00945951 1 1 0 CPT2 1376 broad.mit.edu 37 1 53679183 53679183 + Silent SNP C C A TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr1:53679183C>A ENST00000371486.3 + 5 2408 c.1893C>A c.(1891-1893)cgC>cgA p.R631R RP5-1024G6.2_ENST00000452466.1_RNA NM_000098.2 NP_000089.1 P23786 CPT2_HUMAN carnitine palmitoyltransferase 2 631 R -> C (in CPT2D; early-onset hepatocardiomuscular form). carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation mitochondrial inner membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 15 L-Carnitine(DB00583)|Perhexiline(DB01074) ACCCAGGCCGCAATGCCCGGG 0.498000 30 25 1.38854e-25 1.60454e-25 1 1 0 ESRP1 54845 broad.mit.edu 37 8 95680237 95680237 + Missense_Mutation SNP G G A TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr8:95680237G>A ENST00000433389.2 + 10 1182 c.992G>A c.(991-993)cGg>cAg p.R331Q ESRP1_ENST00000423620.2_Missense_Mutation_p.R331Q|ESRP1_ENST00000358397.5_Missense_Mutation_p.R331Q|ESRP1_ENST00000454170.2_Missense_Mutation_p.R331Q NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 331 RRM 2. mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 GTCCGCATGCGGGGGCTCCCT 0.493000 15 44 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187540699 187540699 + Silent SNP G G A TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr4:187540699G>A ENST00000441802.2 - 10 7250 c.7041C>T c.(7039-7041)acC>acT p.T2347T NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2347 Cadherin 21. 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 CGTAATCCAGGGTTCTGAGTA 0.488000 HNSCC(5;0.00058) 56 87 0 0 1 0 0 MYO1A 4640 broad.mit.edu 37 12 57435234 57435234 + Silent SNP G G A rs143507529 byFrequency TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr12:57435234G>A ENST00000442789.2 - 14 1433 c.1146C>T c.(1144-1146)taC>taT p.Y382Y MYO1A_ENST00000544473.1_Silent_p.Y220Y|MYO1A_ENST00000300119.3_Silent_p.Y382Y NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 382 Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 TCTCAAAACCGTAGATATCAA 0.547000 40 61 0 0 1 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49288743 49288743 + Missense_Mutation SNP C C T TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr15:49288743C>T ENST00000559471.1 - 17 2707 c.2444G>A c.(2443-2445)aGg>aAg p.R815K SECISBP2L_ENST00000261847.3_Missense_Mutation_p.R770K NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 815 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 ATATGCTTTCCTGGCCTCCTC 0.378000 44 74 0 0 1 0 0 ADCY3 109 broad.mit.edu 37 2 25064144 25064144 + Frame_Shift_Del DEL T T - TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr2:25064144delT ENST00000260600.5 - 5 2031 c.1180delA c.(1180-1182)tgfs p.M394fs ADCY3_ENST00000405392.1_Frame_Shift_Del_p.M5fs NM_004036.3 NP_004027.2 O60266 ADCY3_HUMAN adenylate cyclase 3 394 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) GCCTCCACCATGGCCAGCCCC 0.657 2 4 --- --- --- --- CDC25A 993 broad.mit.edu 37 3 48200922 48200923 + Frame_Shift_Del DEL TC TC - TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr3:48200922_48200923delTC ENST00000302506.3 - 14 1753_1754 c.1345_1346delGA c.(1345-1347)tfs p.D449fs CDC25A_ENST00000351231.3_Frame_Shift_Del_p.D409fs NM_001789.2 NP_001780.2 P30304 MPIP1_HUMAN cell division cycle 25A 449 Rhodanese. cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) ACCCAGGCGATCTCTCTCTCTC 0.515 7 82 --- --- --- --- PSD3 23362 broad.mit.edu 37 8 18432657 18432665 + In_Frame_Del DEL CCCTCCAGT CCCTCCAGT - TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr8:18432657_18432665delCCCTCCAGT ENST00000440756.2 - 13 2720_2728 c.2618_2626delACTGGAGGG c.(2617-2628)gtc>g p.DWRV873del PSD3_ENST00000327040.8_In_Frame_Del_p.DWRV871del|PSD3_ENST00000428502.2_In_Frame_Del_p.DWRV200del|PSD3_ENST00000286485.8_In_Frame_Del_p.DWRV337del|PSD3_ENST00000523619.1_In_Frame_Del_p.DWRV806del Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 872 PH. regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) AAAAGCAAGACCCTCCAGTCGGCAGTTTT 0.397 13 90 --- --- --- --- ZNF658 26149 broad.mit.edu 37 9 40789482 40789483 + Splice_Site INS - - A TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr9:40789482_40789483insA ENST00000602553.1 - 2 94 c.e2-2 ZNF658_ENST00000441795.1_Splice_Site|ZNF658_ENST00000377626.3_Intron Q5TYW1 ZN658_HUMAN zinc finger protein 658 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TTCATGTGCCTAAAAAAAAAAA 0.426 2 4 --- --- --- --- PDCD11 22984 broad.mit.edu 37 10 105191973 105191974 + Frame_Shift_Ins INS - - A TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr10:105191973_105191974insA ENST00000369797.3 + 22 3550_3551 c.3456_3457insA c.(3454-3459)gtcttgfs p.VL1152fs NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 1152 S1 motif 10. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) GCCAGACTGTTACTTGCTTCTT 0.446 41 55 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396278 + RNA INS - - T rs148140777 by1000genomes TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr10:118396277_118396278insT ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTTT 0.421 6 4 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58066608 58066608 + RNA DEL T T - TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chr17:58066608delT ENST00000586209.1 + 0 158 TTGATTGTGATTTTTTTTTTT 0.313 3 6 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-V1-A9OT-01A-11D-A41K-08 TCGA-V1-A9OT-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a578d0f-5710-413d-a40a-e75f63e7042a 9c425266-08aa-46b4-b0b1-6c33962b10da g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 2 4 --- --- --- ---