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 TKTL2 84076 broad.mit.edu 37 4 164394865 164394865 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:164394865G>A ENST00000280605.3 - 1 182 c.22C>T c.(22-24)Ccc>Tcc p.P8S NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 8 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TTCACGTCGGGCTTGGCGTCG 0.637000 3 29 0 0 1 0 0 SLC45A4 57210 broad.mit.edu 37 8 142229061 142229061 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:142229061C>A ENST00000519067.1 - 4 828 c.525G>T c.(523-525)tgG>tgT p.W175C SLC45A4_ENST00000024061.3_Missense_Mutation_p.W175C|SLC45A4_ENST00000517878.1_Missense_Mutation_p.W226C|SLC45A4_ENST00000433583.2_Missense_Mutation_p.W168C Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 226 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) GGGTCCGGAACCAGCTGCCCA 0.652000 9 97 2.74318e-10 3.01503e-10 1 1 0 MAP3K5 4217 broad.mit.edu 37 6 136913701 136913701 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:136913701C>G ENST00000359015.4 - 22 3290 c.2930G>C c.(2929-2931)aGc>aCc p.S977T MAP3K5_ENST00000355845.4_Missense_Mutation_p.S224T NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 977 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding p.S977I(1) NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) ACTGCTGCTGCTGGTGTCCTC 0.478000 5 70 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10541713 10541713 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:10541713C>T ENST00000583535.1 - 27 3463 c.3376G>A c.(3376-3378)Gag>Aag p.E1126K MYH3_ENST00000226209.7_Missense_Mutation_p.E1126K NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1126 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 GTGGCCCTCTCCGCCTCTATC 0.657000 7 29 0 0 1 0 0 DHX35 60625 broad.mit.edu 37 20 37634810 37634810 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr20:37634810G>A ENST00000252011.3 + 12 1066 c.1033G>A c.(1033-1035)Gca>Aca p.A345T DHX35_ENST00000373325.2_Missense_Mutation_p.A345T|DHX35_ENST00000373323.4_Missense_Mutation_p.A314T NM_021931.3 NP_068750.2 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 345 Helicase C-terminal. catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) CACCAATGTGGCAGAAACCTC 0.408000 25 423 0 0 1 0 0 PEX14 5195 broad.mit.edu 37 1 10659377 10659377 + Silent SNP A A C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:10659377A>C ENST00000356607.4 + 4 332 c.252A>C c.(250-252)acA>acC p.T84T PEX14_ENST00000538836.1_Silent_p.T20T NM_004565.2 NP_004556.1 O75381 PEX14_HUMAN peroxisomal biogenesis factor 14 84 negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport integral to membrane|nucleus|peroxisomal membrane|protein complex protein N-terminus binding|transcription corepressor activity breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1) 13 Ovarian(185;0.203) all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419) GCCCAGCCACACAGGTGGTTC 0.557000 12 90 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210574652 210574652 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:210574652C>T ENST00000360351.4 + 12 5253 c.4747C>T c.(4747-4749)Cgc>Tgc p.R1583C MAP2_ENST00000199940.6_Missense_Mutation_p.R284C|MAP2_ENST00000392194.1_Missense_Mutation_p.R227C|MAP2_ENST00000361559.4_Missense_Mutation_p.R227C|MAP2_ENST00000447185.1_Missense_Mutation_p.R1579C|MAP2_ENST00000475600.1_3'UTR NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 1583 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AGAGCCAATTCGCAGAGCAGG 0.498000 12 58 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25368473 25368473 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:25368473T>C ENST00000256078.4 - 5 535 c.472A>G c.(472-474)Aca>Gca p.T158A KRAS_ENST00000557334.1_Intron|KRAS_ENST00000311936.3_Intron NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 158 activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CTCACCAATGTATAAAAAGCA 0.353000 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 6 83 0 0 1 0 0 B3GALTL 145173 broad.mit.edu 37 13 31822041 31822041 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr13:31822041G>A ENST00000343307.4 + 6 546 c.397G>A c.(397-399)Gaa>Aaa p.E133K NM_194318.3 NP_919299.3 Q6Y288 B3GLT_HUMAN beta 1,3-galactosyltransferase-like 133 fucose metabolic process endoplasmic reticulum membrane|integral to membrane transferase activity, transferring glycosyl groups breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Lung SC(185;0.0257) all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184) CTTCTGTGAAGAAGAGACAAG 0.333000 3 34 0 0 1 0 0 CCDC65 85478 broad.mit.edu 37 12 49312494 49312494 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:49312494G>C ENST00000266984.5 + 6 1061 c.834G>C c.(832-834)aaG>aaC p.K278N ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Missense_Mutation_p.K278N Q8IXS2 CCD65_HUMAN coiled-coil domain containing 65 278 breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2) 15 CAAAAGGCAAGATCATGATAC 0.433000 5 68 0 0 1 0 0 NUAK1 9891 broad.mit.edu 37 12 106464625 106464625 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:106464625G>A ENST00000261402.2 - 6 2138 c.759C>T c.(757-759)ttC>ttT p.F253F NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 253 Protein kinase. ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.F253F(2) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 CGAAACCATCGAAGGGCATTG 0.547000 7 53 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 43985982 43985982 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr22:43985982C>T ENST00000262726.7 - 24 3257 c.3004G>A c.(3004-3006)Gaa>Aaa p.E1002K EFCAB6_ENST00000396231.2_Missense_Mutation_p.E850K NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 1002 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) AGCTCCCCTTCGGTAAGAGAA 0.408000 9 104 0 0 1 0 0 ZNF468 90333 broad.mit.edu 37 19 53344521 53344521 + Silent SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:53344521C>A ENST00000595646.1 - 4 1146 c.1026G>T c.(1024-1026)ctG>ctT p.L342L ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_Silent_p.L289L|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Silent_p.L289L Q5VIY5 ZN468_HUMAN zinc finger protein 468 342 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) TATGTTTTGCCAGATATGAAT 0.383000 11 157 3.86212e-05 4.12591e-05 1 1 0 ZNF792 126375 broad.mit.edu 37 19 35449519 35449519 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:35449519T>C ENST00000404801.1 - 4 1626 c.1240A>G c.(1240-1242)Aga>Gga p.R414G ZNF792_ENST00000605484.1_Missense_Mutation_p.R347G NM_175872.4 NP_787068.3 Q3KQV3 ZN792_HUMAN zinc finger protein 792 414 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GTGTGAACTCTCCAATGTTTA 0.448000 8 62 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 31164450 31164450 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:31164450T>C ENST00000357033.4 - 76 11085 c.10879A>G c.(10879-10881)Atg>Gtg p.M3627V DMD-AS1_ENST00000481143.1_RNA|DMD_ENST00000343523.2_Missense_Mutation_p.M1057V|DMD_ENST00000361471.4_Missense_Mutation_p.M546V|DMD_ENST00000541735.1_Missense_Mutation_p.M1057V|DMD_ENST00000378702.4_Missense_Mutation_p.M559V|DMD_ENST00000378680.2_Missense_Mutation_p.M449V|DMD_ENST00000378707.3_Missense_Mutation_p.M1167V|DMD_ENST00000378723.3_Missense_Mutation_p.M559V|DMD_ENST00000378677.2_Missense_Mutation_p.M3623V|DMD_ENST00000359836.1_Missense_Mutation_p.M1154V|DMD_ENST00000474231.1_Missense_Mutation_p.M1167V NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 3627 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CGGAGCAGCATAGGCTGACTG 0.498000 5 58 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151884562 151884562 + Splice_Site SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:151884562C>A ENST00000355193.2 - 33 5012 c.e33-1 KMT2C_ENST00000262189.6_Splice_Site lysine (K)-specific methyltransferase 2C ATTTTTATCCCTGGGAAAAAA 0.313000 11 93 4.68919e-08 5.12617e-08 1 1 0 KIAA0922 23240 broad.mit.edu 37 4 154517420 154517420 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:154517420C>T ENST00000409959.3 + 20 2055 c.2006C>T c.(2005-2007)tCt>tTt p.S669F KIAA0922_ENST00000440693.1_Missense_Mutation_p.S585F|KIAA0922_ENST00000409663.3_Missense_Mutation_p.S668F NM_001131007.1 NP_001124479.1 A2VDJ0 T131L_HUMAN KIAA0922 668 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) GGTACGCATTCTGAGGAATCC 0.418000 11 157 0 0 1 0 0 RASAL2 9462 broad.mit.edu 37 1 178414790 178414790 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:178414790C>T ENST00000448150.3 + 9 2384 c.1566C>T c.(1564-1566)gaC>gaT p.D522D RASAL2_ENST00000367649.3_Silent_p.D540D|RASAL2_ENST00000462775.1_Silent_p.D392D NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 392 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 ATCTTCATGACGCACTGGGTA 0.388000 5 71 0 0 1 0 0 PDCD11 22984 broad.mit.edu 37 10 105172995 105172995 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr10:105172995G>A ENST00000369797.3 + 9 1195 c.1101G>A c.(1099-1101)gtG>gtA p.V367V NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 367 S1 motif 4. 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) TTGGAGCAGTGCTGGATGATG 0.572000 9 63 0 0 1 0 0 SIN3A 25942 broad.mit.edu 37 15 75702243 75702243 + Silent SNP C C T rs142678572 byFrequency TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:75702243C>T ENST00000394947.3 - 8 1565 c.1251G>A c.(1249-1251)ccG>ccA p.P417P SIN3A_ENST00000360439.4_Silent_p.P417P|SIN3A_ENST00000394949.4_Silent_p.P417P NM_001145358.1 NP_001138830.1 Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A 417 Interaction with REST (By similarity). blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 TGGGCCTCTGCGGCTTGTTGT 0.498000 10 86 0 0 1 0 0 STRADB 55437 broad.mit.edu 37 2 202342454 202342454 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:202342454G>C ENST00000194530.3 + 8 1026 c.661G>C c.(661-663)Gat>Cat p.D221H STRADB_ENST00000392249.2_Missense_Mutation_p.D221H NM_001206864.1|NM_018571.5 NP_001193793.1|NP_061041.2 Q9C0K7 STRAB_HUMAN STE20-related kinase adaptor beta 221 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|protein binding|protein kinase activity breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1) 13 GGCTGTGTATGATTTCCCACA 0.522000 17 110 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139396305 139396305 + Nonsense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:139396305G>A ENST00000277541.6 - 30 5608 c.5533C>T c.(5533-5535)Cag>Tag p.Q1845* NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1845 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) AGGTGCTGCTGAGTCCACTGC 0.652000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 4 43 0 0 1 0 0 ATP1B1 481 broad.mit.edu 37 1 169096464 169096464 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:169096464G>A ENST00000367816.1 + 5 914 c.385G>A c.(385-387)Gtg>Atg p.V129M ATP1B1_ENST00000494797.1_3'UTR|ATP1B1_ENST00000367813.3_Missense_Mutation_p.V121M|ATP1B1_ENST00000367815.3_Missense_Mutation_p.V129M|ATP1B1_ENST00000499679.3_Missense_Mutation_p.V73M P05026 AT1B1_HUMAN ATPase, Na+/K+ transporting, beta 1 polypeptide 129 ATP biosynthetic process|blood coagulation|leukocyte migration sodium:potassium-exchanging ATPase complex protein binding|sodium:potassium-exchanging ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 14 all_hematologic(923;0.208) ATTTTTAGATGTGCCCAGTGA 0.393000 6 69 0 0 1 0 0 TBX20 57057 broad.mit.edu 37 7 35280555 35280555 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:35280555T>C ENST00000408931.3 - 5 1275 c.749A>G c.(748-750)gAa>gGa p.E250G NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 250 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 AGTTCTAAATTCTTCAGACTT 0.398000 5 46 0 0 1 0 0 STT3B 201595 broad.mit.edu 37 3 31665334 31665334 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:31665334G>A ENST00000295770.2 + 11 1917 c.1708G>A c.(1708-1710)Gcc>Acc p.A570T NM_178862.1 NP_849193.1 Q8TCJ2 STT3B_HUMAN STT3B, subunit of the oligosaccharyltransferase complex (catalytic) 570 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 19 TGTAGTCCTGGCCTCATACAA 0.373000 8 90 0 0 1 0 0 SKOR1 390598 broad.mit.edu 37 15 68118400 68118400 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:68118400C>T ENST00000380035.2 + 2 292 c.234C>T c.(232-234)ggC>ggT p.G78G SKOR1_ENST00000554054.1_Silent_p.G50G|SKOR1_ENST00000389002.1_Silent_p.G69G|SKOR1_ENST00000554240.1_Silent_p.G39G|SKOR1_ENST00000341418.5_Silent_p.G264G P84550 SKOR1_HUMAN SKI family transcriptional corepressor 1 78 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus nucleotide binding|SMAD binding|transcription repressor activity endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1) 23 ACCAGGTGGGCGAGACGTCGC 0.652000 6 46 0 0 1 0 0 SEC63 11231 broad.mit.edu 37 6 108246120 108246120 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:108246120C>T ENST00000369002.4 - 3 420 c.241G>A c.(241-243)Gca>Aca p.A81T NM_007214.4 NP_009145.1 Q9UGP8 SEC63_HUMAN SEC63 homolog (S. cerevisiae) 81 protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) GCCCATCCTGCAAGCAGAACT 0.348000 8 66 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228462329 228462329 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:228462329G>A ENST00000570156.2 + 24 6939 c.6865G>A c.(6865-6867)Ggc>Agc p.G2289S OBSCN_ENST00000284548.11_Missense_Mutation_p.G1914S|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000422127.1_Missense_Mutation_p.G1914S|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.G761S|OBSCN_ENST00000366707.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1274 Ig-like 23. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGAGGAGGGCGGCGAGGCCAC 0.632000 3 14 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21174109 21174109 + Silent SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr22:21174109A>G ENST00000255882.6 - 6 695 c.609T>C c.(607-609)tcT>tcC p.S203S PI4KA_ENST00000572273.1_Silent_p.S145S NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 145 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) TTGAGAGGAGAGACTCTTCCA 0.478000 7 161 0 0 1 0 0 ZNF135 7694 broad.mit.edu 37 19 58572993 58572993 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:58572993G>A ENST00000401053.4 + 2 118 c.115G>A c.(115-117)Gag>Aag p.E39K ZNF135_ENST00000359978.6_Missense_Mutation_p.E39K|ZNF135_ENST00000313434.5_Missense_Mutation_p.E27K|ZNF135_ENST00000439855.2_Missense_Mutation_p.E27K|ZNF135_ENST00000511556.1_Missense_Mutation_p.E27K|ZNF135_ENST00000506786.1_5'UTR NM_001164529.1|NM_007134.1 NP_001158001.1|NP_009065.1 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 27 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) CAGCCAGGAGGAGTGGGGGCA 0.587000 5 98 0 0 1 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130374062 130374062 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:130374062A>G ENST00000529410.1 + 9 987 c.508A>G c.(508-510)Agt>Ggt p.S170G L3MBTL3_ENST00000533560.1_Missense_Mutation_p.S145G|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.S170G|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.S145G|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.S170G|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.S145G Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 (Drosophila) 170 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) TCCTAAGTGTAGTCGGAAGAA 0.418000 7 30 0 0 1 0 0 RTP3 83597 broad.mit.edu 37 3 46542332 46542332 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:46542332C>G ENST00000296142.3 + 2 1214 c.642C>G c.(640-642)ttC>ttG p.F214L NM_031440.1 NP_113628.1 Q9BQQ7 RTP3_HUMAN receptor (chemosensory) transporter protein 3 214 detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) TAAGCATTTTCTGCTGTTGTG 0.408000 8 103 0 0 1 0 0 MRPS24 64951 broad.mit.edu 37 7 43906549 43906549 + Nonsense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:43906549G>A ENST00000317534.5 - 4 314 c.253C>T c.(253-255)Cga>Tga p.R85* MRPS24_ENST00000467084.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_3'UTR NM_032014.2 NP_114403.1 Q96EL2 RT24_HUMAN mitochondrial ribosomal protein S24 85 translation mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 5 TCCACCGTTCGCTCTGCGGCA 0.557000 9 80 0 0 1 0 0 OR2J2 26707 broad.mit.edu 37 6 29141556 29141556 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:29141556C>G ENST00000377167.2 + 1 246 c.144C>G c.(142-144)atC>atG p.I48M NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 TCATCATCATCCTGTCATACG 0.443000 9 164 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63174587 63174587 + Missense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:63174587G>T ENST00000322893.7 - 11 2874 c.2606C>A c.(2605-2607)aCa>aAa p.T869K KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 869 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) GTCACTTTTTGTAATTCCACT 0.498000 7 101 0.00307968 0.00314674 1 1 0 GAL3ST4 79690 broad.mit.edu 37 7 99758482 99758482 + Nonsense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:99758482G>A ENST00000423751.1 - 3 481 c.226C>T c.(226-228)Cag>Tag p.Q76* GAL3ST4_ENST00000360039.4_Missense_Mutation_p.S177L|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.S177L|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.S115L|GAL3ST4_ENST00000411994.1_Nonsense_Mutation_p.Q76* Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 234 cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCGGAAGGCTGATGAGGTGGA 0.552000 6 85 0 0 1 0 0 PITPNM1 9600 broad.mit.edu 37 11 67262398 67262398 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:67262398C>T ENST00000356404.3 - 18 2886 c.2661G>A c.(2659-2661)gcG>gcA p.A887A PITPNM1_ENST00000534749.1_Silent_p.A887A|PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000436757.2_Silent_p.A886A NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 887 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 CCTCGCATTCCGCCAGCTGTG 0.677000 13 60 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25925395 25925395 + Missense_Mutation SNP T T A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:25925395T>A ENST00000356865.6 - 20 3850 c.3739A>T c.(3739-3741)Att>Ttt p.I1247F NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 1247 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GCATTGTAAATCAAAGCCACG 0.478000 10 99 0 0 1 0 0 GNB2L1 10399 broad.mit.edu 37 5 180666085 180666085 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:180666085G>A ENST00000512805.1 - 5 1026 c.618C>T c.(616-618)ctC>ctT p.L206L GNB2L1_ENST00000511566.1_Silent_p.L206L|GNB2L1_ENST00000511900.1_Silent_p.L158L|GNB2L1_ENST00000376817.4_Silent_p.L162L|GNB2L1_ENST00000504726.1_Intron NM_006098.4 NP_006089.1 P63244 GBLP_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 206 apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding lung(3)|skin(2) 5 all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11) CAGAAGCACAGAGGGATCCAT 0.517000 7 141 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63174448 63174448 + Silent SNP G G A rs138093802 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:63174448G>A ENST00000322893.7 - 11 3013 c.2745C>T c.(2743-2745)caC>caT p.H915H KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 915 CAD (involved in subunit assembly) (By similarity). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CTTTGAGTTCGTGTTTGACTT 0.512000 13 142 0 0 1 0 0 CPA2 1358 broad.mit.edu 37 7 129910535 129910535 + Silent SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:129910535C>G ENST00000222481.4 + 4 346 c.291C>G c.(289-291)gtC>gtG p.V97V NM_001869.2 NP_001860.2 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) 97 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Melanoma(18;0.0435) TATCTTAGGTCCTGTTGGACA 0.423000 10 79 0 0 1 0 0 NCAM1 4684 broad.mit.edu 37 11 113111552 113111552 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:113111552G>A ENST00000401611.2 + 16 1882 c.1882G>A c.(1882-1884)Gat>Aat p.D628N NCAM1_ENST00000316851.7_Intron|NCAM1_ENST00000397957.4_Intron|NCAM1_ENST00000533760.1_Intron P13591 NCAM1_HUMAN neural cell adhesion molecule 1 353 Fibronectin type-III 2. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) GTCTCCACCAGATAGTGAGTA 0.443000 11 148 0 0 1 0 0 USP24 23358 broad.mit.edu 37 1 55561055 55561055 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:55561055C>T ENST00000294383.6 - 51 6075 c.6076G>A c.(6076-6078)Gat>Aat p.D2026N USP24_ENST00000407756.1_Missense_Mutation_p.D1866N NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 2026 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 CGGCGCACATCAGTGTATGGG 0.388000 3 26 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131792719 131792719 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:131792719A>G ENST00000286355.5 - 18 5765 c.3673T>C c.(3673-3675)Tac>Cac p.Y1225H ADCY8_ENST00000377928.3_Missense_Mutation_p.Y1094H NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 1225 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CGCCGGTTGTAATGACCCTTG 0.517000 HNSCC(32;0.087) 6 70 0 0 1 0 0 STAG3L3 442578 broad.mit.edu 37 7 72470019 72470019 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:72470019C>T ENST00000308103.6 - 6 705 c.322G>A c.(322-324)Gtc>Atc p.V108I STAG3L3_ENST00000569650.1_Missense_Mutation_p.V108I|STAG3L3_ENST00000436857.1_Missense_Mutation_p.V108I|STAG3L3_ENST00000426587.1_Missense_Mutation_p.V54I|STAG3L3_ENST00000448173.1_Missense_Mutation_p.V108I P0CL85 ST3L3_HUMAN 108 nucleus binding breast(1)|lung(1)|stomach(1) 3 Lung NSC(55;0.197) AGTAATCTGACGGCCTCCACT 0.507000 10 149 0 0 1 0 0 PI3 5266 broad.mit.edu 37 20 43804666 43804666 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr20:43804666C>T ENST00000243924.3 + 2 291 c.244C>T c.(244-246)Cgg>Tgg p.R82W NM_002638.3 NP_002629.1 P19957 ELAF_HUMAN peptidase inhibitor 3, skin-derived 82 WAP. copulation proteinaceous extracellular matrix serine-type endopeptidase inhibitor activity large_intestine(1)|lung(5)|skin(1) 7 Myeloproliferative disorder(115;0.0122) TATCTTGATCCGGTGCGCCAT 0.507000 10 84 0 0 1 0 0 CDH26 60437 broad.mit.edu 37 20 58587630 58587630 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr20:58587630C>T ENST00000348616.4 + 18 2644 c.2344C>T c.(2344-2346)Cac>Tac p.H782Y CDH26_ENST00000350849.6_Missense_Mutation_p.H115Y|CDH26_ENST00000244049.3_Missense_Mutation_p.H74Y|CDH26_ENST00000244047.5_Intron|CDH26_ENST00000497614.1_3'UTR NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 0 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) CTACCTACCTCACGTCTACAG 0.552000 5 65 0 0 1 0 0 CTBP2 1488 broad.mit.edu 37 10 126683151 126683151 + Missense_Mutation SNP C C T rs76203768 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr10:126683151C>T ENST00000309035.6 - 5 2417 c.2287G>A c.(2287-2289)Gtg>Atg p.V763M CTBP2_ENST00000531469.1_Missense_Mutation_p.V223M|CTBP2_ENST00000411419.2_Missense_Mutation_p.V223M|CTBP2_ENST00000337195.5_Missense_Mutation_p.V223M|CTBP2_ENST00000334808.6_Missense_Mutation_p.V291M|CTBP2_ENST00000494626.2_Missense_Mutation_p.V223M NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 223 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) ACCCTCTGCACGCCCAGGGAC 0.547000 9 63 0 0 1 0 0 TPCN1 53373 broad.mit.edu 37 12 113714796 113714796 + Nonsense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:113714796C>T ENST00000550785.1 + 12 1400 c.1231C>T c.(1231-1233)Cga>Tga p.R411* TPCN1_ENST00000335509.6_Nonsense_Mutation_p.R339*|TPCN1_ENST00000541517.1_Nonsense_Mutation_p.R411*|TPCN1_ENST00000392569.4_Nonsense_Mutation_p.R271* NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 339 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 ACTGCACAAGCGAACCGCTAT 0.567000 18 262 0 0 1 0 0 RUSC2 9853 broad.mit.edu 37 9 35546558 35546558 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:35546558G>A ENST00000455600.1 + 2 609 c.40G>A c.(40-42)Gtt>Att p.V14I RUSC2_ENST00000468041.1_3'UTR NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 14 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) GACCCTCATCGTTCATCACAT 0.582000 9 118 0 0 1 0 0 VEGFC 7424 broad.mit.edu 37 4 177650751 177650751 + Silent SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:177650751G>C ENST00000280193.2 - 2 712 c.297C>G c.(295-297)ctC>ctG p.L99L NM_005429.2 NP_005420.1 P49767 VEGFC_HUMAN vascular endothelial growth factor C 99 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) TCCTTGAGTTGAGGTTGGCCT 0.373000 6 67 0 0 1 0 0 SELO 83642 broad.mit.edu 37 22 50647025 50647025 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr22:50647025C>T ENST00000380903.2 + 3 877 c.819C>T c.(817-819)agC>agT p.S273S RP3-402G11.5_ENST00000492092.1_3'UTR NM_031454.1 NP_113642.1 CAGGCCCCAGCGTGGGGAGGA 0.567000 7 69 0 0 1 0 0 CERS5 91012 broad.mit.edu 37 12 50536932 50536932 + Missense_Mutation SNP C C T rs146511812 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:50536932C>T ENST00000317551.6 - 3 483 c.359G>A c.(358-360)cGa>cAa p.R120Q CERS5_ENST00000422340.2_Missense_Mutation_p.R62Q NM_147190.2 NP_671723.1 Q8N5B7 CERS5_HUMAN ceramide synthase 5 120 ceramide biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity TTGGATTTTTCGGACATTCCA 0.493000 16 230 0 0 1 0 0 ELK3 2004 broad.mit.edu 37 12 96641121 96641121 + Missense_Mutation SNP C C T rs118124881 byFrequency TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:96641121C>T ENST00000228741.3 + 3 937 c.611C>T c.(610-612)aCg>aTg p.T204M ELK3_ENST00000552142.1_Intron NM_005230.2 NP_005221.2 P41970 ELK3_HUMAN ELK3, ETS-domain protein (SRF accessory protein 2) 204 negative regulation of transcription, DNA-dependent|signal transduction mitochondrion protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2) 20 all_cancers(2;0.00173) CTGCCTTCCACGTCAGAGGCT 0.587000 10 100 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41019061 41019061 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:41019061C>T ENST00000399564.4 - 25 2951 c.2501G>A c.(2500-2502)cGg>cAg p.R834Q MROH2B_ENST00000506092.2_Missense_Mutation_p.R389Q NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CAGCAGCCTCCGAATATTCTC 0.458000 7 41 0 0 1 0 0 RECQL5 9400 broad.mit.edu 37 17 73625900 73625900 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:73625900G>C ENST00000317905.5 - 15 1994 c.1835C>G c.(1834-1836)tCc>tGc p.S612C RECQL5_ENST00000423245.2_Missense_Mutation_p.S585C|RECQL5_ENST00000443199.2_5'UTR NM_004259.6 NP_004250.4 O94762 RECQ5_HUMAN RecQ protein-like 5 612 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) CCCATCCTTGGAGGCTCTGTG 0.622000 Other identified genes with known or suspected DNA repair function 5 58 0 0 1 0 0 UGCG 7357 broad.mit.edu 37 9 114676954 114676954 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:114676954G>A ENST00000374279.3 + 2 618 c.168G>A c.(166-168)ctG>ctA p.L56L UGCG_ENST00000495085.1_3'UTR NM_003358.1 NP_003349.1 Q16739 CEGT_HUMAN UDP-glucose ceramide glucosyltransferase 56 epidermis development|glucosylceramide biosynthetic process Golgi membrane|integral to membrane|membrane fraction ceramide glucosyltransferase activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(323;0.0433) Miglustat(DB00419) TCTCTCTTCTGAAACCACTGA 0.368000 5 94 0 0 1 0 0 CASP8 841 broad.mit.edu 37 2 202141631 202141631 + Missense_Mutation SNP C C T rs17860424 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:202141631C>T ENST00000358485.4 + 7 1115 c.919C>T c.(919-921)Cgg>Tgg p.R307W CASP8_ENST00000432109.2_Missense_Mutation_p.R248W|CASP8_ENST00000392258.3_Missense_Mutation_p.T226M|CASP8_ENST00000392266.3_Missense_Mutation_p.T211M|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000323492.7_Missense_Mutation_p.R233W|CASP8_ENST00000264275.5_Missense_Mutation_p.R265W|CASP8_ENST00000392259.2_Missense_Mutation_p.T226M NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 248 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 TGCAAAAGCACGGGAGAAAGT 0.393000 HNSCC(4;0.00038) 6 43 0 0 1 0 0 LRTM1 57408 broad.mit.edu 37 3 54958711 54958711 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:54958711T>C ENST00000273286.5 - 2 701 c.539A>G c.(538-540)aAc>aGc p.N180S CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.N104S|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 180 LRRCT. integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) TTTCCAGAGGTTGTCCTTGAG 0.463000 6 127 0 0 1 0 0 OR52A4P 390053 broad.mit.edu 37 11 5142588 5142588 + RNA SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:5142588T>C ENST00000498233.1 - 0 810 breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) AAGTGAAATGTCTGTGGCTCC 0.423000 7 61 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 4 51 0 0 1 0 0 ARHGAP5 394 broad.mit.edu 37 14 32562761 32562761 + Missense_Mutation SNP A A C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:32562761A>C ENST00000345122.3 + 2 3201 c.2886A>C c.(2884-2886)gaA>gaC p.E962D ARHGAP5_ENST00000556611.1_Missense_Mutation_p.E962D|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.E962D|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.E962D|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 962 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) ATCAAAGTGAAGATGTTTTTC 0.358000 10 120 0 0 1 0 0 PDGFD 80310 broad.mit.edu 37 11 103814225 103814225 + Missense_Mutation SNP T T A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:103814225T>A ENST00000302251.5 - 5 1160 c.709A>T c.(709-711)Acc>Tcc p.T237S PDGFD_ENST00000393158.2_Missense_Mutation_p.T243S NM_025208.4|NM_033135.3 NP_079484.1|NP_149126.1 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D 243 positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) TACCGAGGGGTGTCCAGATAC 0.408000 5 36 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103138545 103138545 + Missense_Mutation SNP T T A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:103138545T>A ENST00000424685.2 - 54 8981 c.8822A>T c.(8821-8823)gAt>gTt p.D2941V RELN_ENST00000343529.5_Missense_Mutation_p.D2941V|RELN_ENST00000428762.1_Missense_Mutation_p.D2941V|CTB-107G13.1_ENST00000422488.1_RNA P78509 RELN_HUMAN reelin 2941 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AAGATCCAAATCTTGTGTAAC 0.423000 10 90 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118530499 118530499 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:118530499G>A ENST00000336338.5 - 40 5692 c.5627C>T c.(5626-5628)aCa>aTa p.T1876I NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1876 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TGAGGATGCTGTGTGTCTATG 0.388000 5 42 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16103674 16103674 + Silent SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:16103674C>G ENST00000399408.2 + 3 442 c.267C>G c.(265-267)ctC>ctG p.L89L ABCC1_ENST00000345148.5_Silent_p.L89L|ABCC1_ENST00000351154.5_Silent_p.L89L|ABCC1_ENST00000399410.3_Silent_p.L89L|ABCC1_ENST00000346370.5_Silent_p.L89L|ABCC1_ENST00000349029.5_Silent_p.L89L P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 89 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances p.L89L(1) breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GGGCAGACCTCTTCTACTCTT 0.552000 20 144 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49698774 49698774 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:49698774A>G ENST00000296452.4 + 6 9610 c.9496A>G c.(9496-9498)Agc>Ggc p.S3166G NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 3166 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GGTGATCGCCAGCCCCGTTGT 0.627000 5 52 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82843897 82843897 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:82843897G>A ENST00000265077.3 + 10 10052 c.9487G>A c.(9487-9489)Gag>Aag p.E3163K VCAN_ENST00000342785.4_Missense_Mutation_p.E1409K|VCAN-AS1_ENST00000512090.1_RNA|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.E2176K|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Missense_Mutation_p.E1361K|VCAN_ENST00000502527.2_Missense_Mutation_p.E422K NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 3163 EGF-like 2; calcium-binding (Potential). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TGCACTTTGTGAGCAAGGTAA 0.388000 15 53 0 0 1 0 0 ZNF860 344787 broad.mit.edu 37 3 32030595 32030595 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:32030595G>C ENST00000360311.4 + 2 573 c.24G>C c.(22-24)caG>caC p.Q8H NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 AAGCAGCTCAGAAGAGGAAAG 0.468000 5 84 0 0 1 0 0 FASTKD1 79675 broad.mit.edu 37 2 170428478 170428478 + Missense_Mutation SNP A A C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:170428478A>C ENST00000453153.2 - 2 408 c.62T>G c.(61-63)aTt>aGt p.I21S FASTKD1_ENST00000453929.2_Missense_Mutation_p.I21S NM_024622.3 NP_078898.3 Q53R41 FAKD1_HUMAN FAST kinase domains 1 21 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3) 37 GAATGGACAAATAGCTCTTAG 0.358000 8 52 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152826378 152826378 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:152826378C>T ENST00000367255.5 - 9 1337 c.736G>A c.(736-738)Gcc>Acc p.A246T SYNE1_ENST00000413186.2_Missense_Mutation_p.A246T|SYNE1_ENST00000367253.4_Missense_Mutation_p.A246T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A246T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A253T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A246T|SYNE1_ENST00000367248.3_Missense_Mutation_p.A253T|SYNE1_ENST00000466159.2_Missense_Mutation_p.A246T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A253T NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 246 Actin-binding.|CH 2. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.A246T(2) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCTGTTTCGGCGATAGTGAAA 0.433000 HNSCC(10;0.0054) 12 57 0 0 1 0 0 NOD1 10392 broad.mit.edu 37 7 30485798 30485798 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:30485798G>A ENST00000222823.4 - 9 2937 c.2412C>T c.(2410-2412)ctC>ctT p.L804L NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 804 activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity p.L804L(1) breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 CAGCCAGGGCGAGATACTTCC 0.527000 10 152 0 0 1 0 0 CCDC65 85478 broad.mit.edu 37 12 49312668 49312668 + Silent SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:49312668G>C ENST00000266984.5 + 6 1235 c.1008G>C c.(1006-1008)ctG>ctC p.L336L ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Silent_p.L336L Q8IXS2 CCD65_HUMAN coiled-coil domain containing 65 336 breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2) 15 TCAAGGCCCTGAGAAAGATTG 0.488000 7 43 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155735586 155735586 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:155735586G>A ENST00000437809.1 - 21 3800 c.3678C>T c.(3676-3678)caC>caT p.H1226H GON4L_ENST00000368331.1_Silent_p.H1226H|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Silent_p.H1226H|GON4L_ENST00000271883.5_Silent_p.H1226H Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 1226 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) CCACATTCACGTGGGCCTTAT 0.493000 6 101 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127670419 127670419 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:127670419C>T ENST00000508053.1 - 37 5065 c.4091G>A c.(4090-4092)gGa>gAa p.G1364E FBN2_ENST00000262464.4_Missense_Mutation_p.G1364E|FBN2_ENST00000507835.1_Missense_Mutation_p.G214E|FBN2_ENST00000508989.1_Missense_Mutation_p.G1331E P35556 FBN2_HUMAN fibrillin 2 1364 EGF-like 21; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) ACCTGTACATCCTGTGGTCCC 0.428000 10 88 0 0 1 0 0 KLF5 688 broad.mit.edu 37 13 73636025 73636025 + Silent SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr13:73636025G>C ENST00000377687.4 + 2 824 c.288G>C c.(286-288)ctG>ctC p.L96L KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Silent_p.L5L NM_001730.3 NP_001721.2 Q13887 KLF5_HUMAN Kruppel-like factor 5 (intestinal) 96 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) AGAAGTATCTGACACCTCAGC 0.428000 12 128 0 0 1 0 0 ELN 2006 broad.mit.edu 37 7 73455550 73455550 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:73455550C>T ENST00000252034.7 + 5 600 c.201C>T c.(199-201)ccC>ccT p.P67P ELN_ENST00000458204.1_Silent_p.P57P|ELN_ENST00000358929.4_Silent_p.P67P|ELN_ENST00000380584.4_Silent_p.P67P|ELN_ENST00000380575.4_Silent_p.P57P|ELN_ENST00000429192.1_Silent_p.P67P|ELN_ENST00000380576.5_Silent_p.P67P|ELN_ENST00000445912.1_Silent_p.P67P|ELN_ENST00000357036.5_Silent_p.P67P|ELN_ENST00000380553.4_Silent_p.P67P|ELN_ENST00000380562.4_Silent_p.P67P|ELN_ENST00000320399.6_Silent_p.P67P|ELN_ENST00000320492.7_Intron|ELN_ENST00000414324.1_Silent_p.P57P NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 67 blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) CCACAGTTCCCGGAGGGCTTG 0.587000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 24 260 0 0 1 0 0 CMTM2 146225 broad.mit.edu 37 16 66613547 66613547 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:66613547C>T ENST00000268595.2 + 1 188 c.37C>T c.(37-39)Cca>Tca p.P13S CMTM2_ENST00000379486.2_Missense_Mutation_p.P13S NM_144673.2 NP_653274.1 Q8TAZ6 CKLF2_HUMAN CKLF-like MARVEL transmembrane domain containing 2 13 chemotaxis extracellular space|integral to membrane cytokine activity endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 17 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212) CAAGCCAGAGCCAGCACCAGC 0.587000 6 70 0 0 1 0 0 NMD3 51068 broad.mit.edu 37 3 160968692 160968692 + Silent SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:160968692G>C ENST00000460469.1 + 15 1961 c.1506G>C c.(1504-1506)ctG>ctC p.L502L NMD3_ENST00000472947.1_Intron|NMD3_ENST00000351193.2_Silent_p.L502L Q96D46 NMD3_HUMAN NMD3 ribosome export adaptor 502 Necessary for the nuclear export of the 60S ribosomal subunit. protein transport cytoplasm|nucleolus|nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2) 25 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) CATCAATGCTGACATAATGAG 0.433000 5 91 0 0 1 0 0 MYLK3 91807 broad.mit.edu 37 16 46781826 46781826 + Missense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:46781826G>T ENST00000394809.4 - 1 395 c.280C>A c.(280-282)Ctg>Atg p.L94M MYLK3_ENST00000536476.1_Intron NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 94 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) ACCAGCTCCAGGACCTCGGGC 0.716000 3 33 0.115264 0.116025 1 1 0 ALG13 79868 broad.mit.edu 37 X 110924449 110924449 + Translation_Start_Site SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:110924449G>T ENST00000394780.3 + 1 15 c.3G>T c.(1-3)atG>atT p.M1I ALG13_ENST00000251943.4_5'UTR|ALG13_ENST00000371979.3_Start_Codon_SNP_p.M1I NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 1 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|lung(10)|skin(1) 13 CCCGCGCCATGAAGTGCGTGT 0.602000 27 232 9.39395e-14 1.0381e-13 1 1 0 FAM155A 728215 broad.mit.edu 37 13 108518310 108518310 + Missense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr13:108518310G>T ENST00000375915.2 - 1 773 c.635C>A c.(634-636)cCc>cAc p.P212H NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 212 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 GAGCGGAGTGGGATGCTTGCT 0.587000 7 120 0.00307968 0.00314674 1 1 0 WDR35 57539 broad.mit.edu 37 2 20138032 20138032 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:20138032C>T ENST00000345530.3 - 19 2205 c.2090G>A c.(2089-2091)cGa>cAa p.R697Q WDR35_ENST00000416055.2_Missense_Mutation_p.R262Q|WDR35_ENST00000281405.4_Missense_Mutation_p.R686Q NM_001006657.1 NP_001006658.1 Q9P2L0 WDR35_HUMAN WD repeat domain 35 697 breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATACCAAAGTCGGGGGTGTGG 0.443000 8 81 0 0 1 0 0 SMURF2 64750 broad.mit.edu 37 17 62543753 62543753 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:62543753G>A ENST00000262435.9 - 17 2223 c.2036C>T c.(2035-2037)tCt>tTt p.S679F NM_022739.3 NP_073576.1 Q9HAU4 SMUF2_HUMAN SMAD specific E3 ubiquitin protein ligase 2 679 HECT. BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex identical protein binding|SMAD binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4) 22 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;9.88e-12) AGGCACTCGAGAGGATCCTGT 0.547000 5 60 0 0 1 0 0 GLRA4 441509 broad.mit.edu 37 X 102979153 102979153 + Missense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:102979153G>T ENST00000372617.4 - 4 767 c.347C>A c.(346-348)tCt>tAt p.S116Y NM_001024452.2 NP_001019623.2 Q5JXX5 GLRA4_HUMAN glycine receptor, alpha 4 116 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 GAGGTCCAGAGAGTCATCAGG 0.547000 10 146 0.000442599 0.000462304 1 1 0 NGDN 25983 broad.mit.edu 37 14 23945268 23945268 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:23945268G>A ENST00000397154.3 + 7 464 c.451G>A c.(451-453)Gca>Aca p.A151T NGDN_ENST00000408901.3_Missense_Mutation_p.A151T Q8NEJ9 NGDN_HUMAN neuroguidin, EIF4E binding protein 151 Necessary for interaction with EIF4E (By similarity). regulation of translation axon|cytoplasm|dendrite|filopodium|nucleus NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 12 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) GGAAGATGAAGCAGAAGATGA 0.413000 12 68 0 0 1 0 0 IFT140 9742 broad.mit.edu 37 16 1652541 1652541 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:1652541G>A ENST00000426508.2 - 4 562 c.199C>T c.(199-201)Ctg>Ttg p.L67L LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) 67 breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) TGCCAGCACAGGGAAGCAACC 0.602000 4 43 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 37016183 37016183 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:37016183G>C ENST00000282516.8 + 23 5186 c.4687G>C c.(4687-4689)Gaa>Caa p.E1563Q NIPBL_ENST00000448238.2_Missense_Mutation_p.E1563Q NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1563 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) ACCACTGTTTGAAAATTTTGT 0.388000 6 71 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32663245 32663245 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:32663245A>G ENST00000357033.4 - 10 1191 c.985T>C c.(985-987)Tca>Cca p.S329P DMD_ENST00000288447.4_Missense_Mutation_p.S321P|DMD_ENST00000378677.2_Missense_Mutation_p.S325P NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 329 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTGCCAAATGACTTGTCTTCA 0.378000 7 154 0 0 1 0 0 EPS8L3 79574 broad.mit.edu 37 1 110301152 110301152 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:110301152C>T ENST00000369805.3 - 7 827 c.598G>A c.(598-600)Gag>Aag p.E200K EPS8L3_ENST00000494151.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Missense_Mutation_p.E199K|EPS8L3_ENST00000361852.4_Missense_Mutation_p.E199K NM_133181.3|NM_139053.2 NP_573444.2|NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8-like 3 199 Pro-rich. cytoplasm protein binding breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) TTACTGTGCTCTAGGGTCCTC 0.577000 7 75 0 0 1 0 0 HTRA2 27429 broad.mit.edu 37 2 74758074 74758074 + Missense_Mutation SNP G G A rs142306682 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:74758074G>A ENST00000258080.3 + 3 1378 c.748G>A c.(748-750)Gat>Aat p.D250N HTRA2_ENST00000467961.1_3'UTR|HTRA2_ENST00000352222.3_Intron NM_013247.4 NP_037379.1 O43464 HTRA2_HUMAN HtrA serine peptidase 2 250 Serine protease. apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 ACGCTCAGCTGATGTCCGGCA 0.552000 18 291 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179449452 179449452 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:179449452C>A ENST00000589042.1 - 310 65140 c.64916G>T c.(64915-64917)cGa>cTa p.R21639L TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R12574L|TTN_ENST00000342992.6_Missense_Mutation_p.R19071L|TTN_ENST00000342175.6_Missense_Mutation_p.R12766L|TTN_ENST00000359218.5_Missense_Mutation_p.R12699L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19998L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19998 Fibronectin type-III 57. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATGCCAAATCGGTTTTCAGC 0.468000 8 210 0.000442599 0.000462304 1 1 0 PRPS1 5631 broad.mit.edu 37 X 106885676 106885676 + Missense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:106885676G>T ENST00000372435.4 + 4 608 c.486G>T c.(484-486)tgG>tgT p.W162C PRPS1_ENST00000543248.1_Missense_Mutation_p.W162C|PRPS1_ENST00000372428.4_Missense_Mutation_p.W95C|PRPS1_ENST00000372418.1_Missense_Mutation_p.W62C NM_002764.3 NP_002755.1 P60891 PRPS1_HUMAN phosphoribosyl pyrophosphate synthetase 1 162 5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process cytosol ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 23 TCTCTGAGTGGAGGAACTGCA 0.433000 11 116 3.86212e-05 4.12591e-05 1 1 0 GNL3L 54552 broad.mit.edu 37 X 54574764 54574764 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:54574764C>T ENST00000336470.4 + 9 872 c.733C>T c.(733-735)Cgc>Tgc p.R245C GNL3L_ENST00000360845.2_Missense_Mutation_p.R245C NM_019067.5 NP_061940.1 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 (nucleolar)-like 245 ribosome biogenesis nucleolus GTP binding NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 30 GAACTATTGCCGCCTTGGTGA 0.542000 4 23 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126336687 126336687 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:126336687G>A ENST00000394329.3 + 5 6582 c.6569G>A c.(6568-6570)cGc>cAc p.R2190H FAT4_ENST00000335110.5_Missense_Mutation_p.R488H NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2190 Cadherin 21. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GGACAGGTTCGCTATGGCATT 0.413000 16 148 0 0 1 0 0 ZNF600 162966 broad.mit.edu 37 19 53270399 53270399 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:53270399A>G ENST00000338230.3 - 3 877 c.610T>C c.(610-612)Tac>Cac p.Y204H NM_198457.2 NP_940859.2 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 204 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) CATGTAAGGTATTGCTTGTGA 0.398000 13 238 0 0 1 0 0 GIPR 2696 broad.mit.edu 37 19 46181250 46181250 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:46181250G>A ENST00000590918.1 + 11 1110 c.1011G>A c.(1009-1011)ctG>ctA p.L337L GIPR_ENST00000593127.1_3'UTR|GIPR_ENST00000304207.8_Silent_p.L301L|GIPR_ENST00000263281.3_Silent_p.L337L NM_000164.2 NP_000155.1 P48546 GIPR_HUMAN gastric inhibitory polypeptide receptor 337 L -> V (in Ref. 2; AAB35419). generation of precursor metabolites and energy|response to nutrient integral to membrane|plasma membrane endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 12 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199) ATTACCGGCTGAGGTGAGGGC 0.607000 4 63 0 0 1 0 0 MID2 11043 broad.mit.edu 37 X 107084402 107084402 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:107084402G>A ENST00000262843.6 + 2 1055 c.507G>A c.(505-507)acG>acA p.T169T MID2_ENST00000443968.2_Silent_p.T169T NM_012216.3|NM_052817.2 NP_036348.2|NP_438112.2 Q9UJV3 TRIM1_HUMAN midline 2 169 centrosome|microtubule ligase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 TGCGGGCCACGCACCCCAACA 0.552000 7 59 0 0 1 0 0 BMP4 652 broad.mit.edu 37 14 54418851 54418851 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:54418851C>T ENST00000245451.4 - 3 483 c.90G>A c.(88-90)acG>acA p.T30T BMP4_ENST00000417573.1_Silent_p.T30T|BMP4_ENST00000558984.1_Silent_p.T30T|BMP4_ENST00000559087.1_Silent_p.T30T NM_001202.3 NP_001193.2 P12644 BMP4_HUMAN bone morphogenetic protein 4 30 activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway extracellular space|proteinaceous extracellular matrix BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1) 19 TTTTCTTCCCCGTCTCAGGTA 0.567000 9 74 0 0 1 0 0 WDR59 79726 broad.mit.edu 37 16 74951881 74951881 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:74951881C>T ENST00000262144.6 - 11 1042 c.912G>A c.(910-912)acG>acA p.T304T NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 304 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 CCCGGGACCACGTCACCAGTT 0.463000 9 95 0 0 1 0 0 RECK 8434 broad.mit.edu 37 9 36087862 36087862 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:36087862C>G ENST00000377966.3 + 9 1375 c.809C>G c.(808-810)tCt>tGt p.S270C NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 270 5 X Knot repeats. anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) AGCTCACAATCTGTTCACCCT 0.458000 8 52 0 0 1 0 0 TCAIM 285343 broad.mit.edu 37 3 44409183 44409183 + Silent SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:44409183A>G ENST00000342649.4 + 5 982 c.555A>G c.(553-555)agA>agG p.R185R TCAIM_ENST00000417237.1_Silent_p.R185R NM_173826.3 NP_776187.2 T cell activation inhibitor, mitochondrial p.R185R(1) AAGTCTCGAGAGTGGAAACAA 0.373000 5 33 0 0 1 0 0 CENPE 1062 broad.mit.edu 37 4 104057410 104057410 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:104057410C>T ENST00000265148.3 - 40 6499 c.6410G>A c.(6409-6411)aGa>aAa p.R2137K CENPE_ENST00000380026.3_Missense_Mutation_p.R2016K NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 2137 Kinetochore-binding domain. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TGCTTTAACTCTCATTGAAAG 0.363000 9 97 0 0 1 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140744135 140744135 + Nonsense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:140744135C>T ENST00000518069.1 + 1 238 c.238C>T c.(238-240)Cga>Tga p.R80* PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGAACCCGCGAAGCGGCAG 0.607000 8 91 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109690843 109690843 + Silent SNP C C T rs143646728 byFrequency TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:109690843C>T ENST00000277225.5 + 3 4939 c.4650C>T c.(4648-4650)caC>caT p.H1550H ZNF462_ENST00000457913.1_Silent_p.H1550H|ZNF462_ENST00000441147.2_Silent_p.H395H Q96JM2 ZN462_HUMAN zinc finger protein 462 1550 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 ACTTTGTGCACGACGTAGAGC 0.567000 5 45 0 0 1 0 0 USP32 84669 broad.mit.edu 37 17 58303585 58303585 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:58303585T>C ENST00000300896.4 - 13 1441 c.1247A>G c.(1246-1248)aAc>aGc p.N416S USP32_ENST00000592339.1_Missense_Mutation_p.N86S NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 416 DUSP. protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) TACCACAGGGTTGGCATCCTA 0.368000 7 59 0 0 1 0 0 NUTM1 256646 broad.mit.edu 37 15 34648388 34648388 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:34648388C>G ENST00000537011.1 + 8 2561 c.2179C>G c.(2179-2181)Cag>Gag p.Q727E NUTM1_ENST00000333756.4_Missense_Mutation_p.Q699E|NUTM1_ENST00000438749.3_Missense_Mutation_p.Q717E NUT midline carcinoma, family member 1 CCCCATGGCTCAGAGTTATGA 0.572000 6 49 0 0 1 0 0 XKR4 114786 broad.mit.edu 37 8 56435944 56435944 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:56435944G>A ENST00000327381.5 + 3 1211 c.1111G>A c.(1111-1113)Gcc>Acc p.A371T NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 371 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) CAGCTACATGGCCGTCATCAT 0.587000 7 100 0 0 1 0 0 DGCR5 26220 broad.mit.edu 37 22 19002009 19002009 + RNA SNP G G T rs56157180 by1000genomes TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr22:19002009G>T ENST00000440005.2 + 0 828 DGCR5_ENST00000424407.1_RNA ACAAATCCAAGATTAGCACAG 0.458000 3 32 2.56e-06 2.77371e-06 1 1 0 USP17L2 377630 broad.mit.edu 37 8 11994694 11994694 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:11994694G>C ENST00000333796.3 - 1 1892 c.1576C>G c.(1576-1578)Ctg>Gtg p.L526V FAM66D_ENST00000434078.2_RNA NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2 NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2 Q6R6M4 U17L2_HUMAN ubiquitin specific peptidase 17-like family member 2 526 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 CACACAAGCAGAGCCCTCTTG 0.572000 9 87 0 0 1 0 0 H2AFZ 3015 broad.mit.edu 37 4 100869668 100869668 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:100869668T>C ENST00000296417.5 - 5 555 c.338A>G c.(337-339)cAc>cGc p.H113R H2AFZ_ENST00000529158.1_5'UTR NM_002106.3 NP_002097.1 P0C0S5 H2AZ_HUMAN H2A histone family, member Z 113 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(3)|lung(1) 5 OV - Ovarian serous cystadenocarcinoma(123;2.32e-08) TTTGTGGATGTGTGGAATGAC 0.368000 9 90 0 0 1 0 0 HS3ST1 9957 broad.mit.edu 37 4 11401039 11401039 + Silent SNP G G A rs138931078 by1000genomes TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:11401039G>A ENST00000002596.5 - 2 1765 c.591C>T c.(589-591)caC>caT p.H197H NM_005114.2 NP_005105.1 O14792 HS3S1_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 1 197 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 GCATGTGCACGTGGTAGAGGC 0.597000 6 44 0 0 1 0 0 GYG2 8908 broad.mit.edu 37 X 2793882 2793882 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:2793882C>T ENST00000381163.3 + 10 1445 c.1163C>T c.(1162-1164)gCc>gTc p.A388V GYG2_ENST00000542787.1_Intron|GYG2_ENST00000338623.5_Missense_Mutation_p.A388V|GYG2_ENST00000398806.3_Missense_Mutation_p.A357V|GYG2_ENST00000381161.1_Intron NM_001079855.1|NM_001184702.1|NM_003918.2 NP_001073324.1|NP_001171631.1|NP_003909.2 O15488 GLYG2_HUMAN glycogenin 2 388 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|soluble fraction glycogenin glucosyltransferase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GAGACTCCTGCCGTGATAACG 0.433000 5 29 0 0 1 0 0 ESPL1 9700 broad.mit.edu 37 12 53680438 53680438 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:53680438G>A ENST00000257934.4 + 18 4009 c.3918G>A c.(3916-3918)gaG>gaA p.E1306E ESPL1_ENST00000552462.1_Silent_p.E1306E NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 1306 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 CTGGCTCAGAGCCCTCTAAGA 0.532000 6 57 0 0 1 0 0 LPAR6 10161 broad.mit.edu 37 13 48985612 48985612 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr13:48985612G>C ENST00000378434.4 - 7 2572 c.948C>G c.(946-948)ttC>ttG p.F316L RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Missense_Mutation_p.F316L NM_005767.5 NP_005758.2 P43657 LPAR6_HUMAN lysophosphatidic acid receptor 6 316 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.0?(15)|p.?(4) NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 14 GAACTTCAGAGAATCTGAAGT 0.338000 14 82 0 0 1 0 0 NPY 4852 broad.mit.edu 37 7 24324938 24324938 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:24324938G>A ENST00000407573.1 + 3 369 c.79G>A c.(79-81)Gag>Aag p.E27K NPY_ENST00000405982.1_Missense_Mutation_p.E27K|NPY_ENST00000242152.2_Missense_Mutation_p.E27K P01303 NPY_HUMAN neuropeptide Y 27 adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission cell|extracellular space calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 9 TGCGCTGGCCGAGGCGTACCC 0.642000 5 55 0 0 1 0 0 DDX19B 11269 broad.mit.edu 37 16 70367483 70367483 + Nonstop_Mutation SNP T T G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:70367483T>G ENST00000288071.6 + 12 1683 c.1438T>G c.(1438-1440)Tga>Gga p.*480G DDX19B_ENST00000568625.1_Nonstop_Mutation_p.*371G|RP11-529K1.2_ENST00000562077.1_RNA|RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000355992.3_Nonstop_Mutation_p.*449G|DDX19B_ENST00000563206.1_Nonstop_Mutation_p.*485G|DDX19B_ENST00000563392.1_Nonstop_Mutation_p.*371G|DDX19B_ENST00000451014.3_Nonstop_Mutation_p.*454G|DDX19B_ENST00000393657.2_Nonstop_Mutation_p.*371G NM_007242.5 NP_009173.1 Q9UMR2 DD19B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B 0 mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear membrane|nuclear pore ATP binding|ATP-dependent helicase activity|protein binding|RNA binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1) 9 Ovarian(137;0.0694) AATAGCCAACTGAGAAGCTCC 0.537000 9 136 0 0 1 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236323 140236323 + Silent SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:140236323G>C ENST00000307360.5 + 1 690 c.690G>C c.(688-690)ctG>ctC p.L230L PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.L230L NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTGATCCTGGTGTTAGATG 0.418000 8 132 0 0 1 0 0 CCDC78 124093 broad.mit.edu 37 16 774185 774185 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:774185G>A ENST00000293889.6 - 10 1079 c.974C>T c.(973-975)gCt>gTt p.A325V NM_001031737.2 NP_001026907.2 A2IDD5 CCD78_HUMAN coiled-coil domain containing 78 325 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3) 9 Hepatocellular(780;0.0218) GTCAAAAATAGCTTGGGGGTT 0.592000 7 79 0 0 1 0 0 NEURL4 84461 broad.mit.edu 37 17 7227188 7227188 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:7227188C>T ENST00000399464.2 - 12 2221 c.2206G>A c.(2206-2208)Gcc>Acc p.A736T NEURL4_ENST00000315614.7_Missense_Mutation_p.A736T|NEURL4_ENST00000570460.1_Missense_Mutation_p.A714T NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TGGCGGAGGGCGGTGCGGCCC 0.622000 OREG0024134 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 89 0 0 1 0 0 TLN1 7094 broad.mit.edu 37 9 35716472 35716472 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:35716472T>C ENST00000314888.9 - 20 2893 c.2540A>G c.(2539-2541)gAa>gGa p.E847G TLN1_ENST00000540444.1_Missense_Mutation_p.E847G NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 847 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CAGATCACTTTCCCCCTCAGC 0.567000 6 128 0 0 1 0 0 OR51B6 390058 broad.mit.edu 37 11 5373628 5373628 + Silent SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:5373628T>C ENST00000380219.1 + 1 891 c.891T>C c.(889-891)atT>atC p.I297I HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron NM_001004750.1 NP_001004750.1 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, member 6 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 21 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTAAGCAGATTCAGAGTGGCA 0.423000 9 88 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43720272 43720272 + Missense_Mutation SNP C C T rs144680391 by1000genomes TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:43720272C>T ENST00000263801.3 - 18 4007 c.3755G>A c.(3754-3756)cGt>cAt p.R1252H TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1257H|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1257H|TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1257H NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 1252 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) TGTAATGACACGAGTGACAAG 0.423000 Other conserved DNA damage response genes 12 138 0 0 1 0 0 MPDZ 8777 broad.mit.edu 37 9 13121863 13121863 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:13121863C>G ENST00000319217.7 - 38 5353 c.5106G>C c.(5104-5106)caG>caC p.Q1702H MPDZ_ENST00000541718.1_Missense_Mutation_p.Q1702H|MPDZ_ENST00000381015.4_Missense_Mutation_p.Q1702H|MPDZ_ENST00000538841.1_Missense_Mutation_p.Q561H|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000381022.2_Missense_Mutation_p.Q1702H|MPDZ_ENST00000536827.1_Missense_Mutation_p.Q1669H|MPDZ_ENST00000447879.1_Missense_Mutation_p.Q1669H|MPDZ_ENST00000546205.1_Missense_Mutation_p.Q1716H NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 1702 PDZ 10. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) GGCGCACTCTCTGTGGCGTCT 0.498000 4 40 0 0 1 0 0 DFNA5 1687 broad.mit.edu 37 7 24789321 24789321 + Translation_Start_Site SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:24789321G>C ENST00000545231.1 - 0 731 DFNA5_ENST00000419307.1_Intron|DFNA5_ENST00000409775.3_Missense_Mutation_p.L25V|DFNA5_ENST00000342947.3_Missense_Mutation_p.L25V|DFNA5_ENST00000409970.1_Intron O60443 DFNA5_HUMAN deafness, autosomal dominant 5 sensory perception of sound endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1) 19 GAGTCATTCAGATTTGATACT 0.403000 22 148 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8421258 8421258 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:8421258G>A ENST00000337907.3 - 19 2943 c.2309C>T c.(2308-2310)gCc>gTc p.A770V RERE_ENST00000476556.1_Missense_Mutation_p.A216V|RERE_ENST00000377464.1_Missense_Mutation_p.A502V|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.A770V NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 770 Pro-rich. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) AACTGCAGTGGCAGAGGGCGT 0.706000 3 14 0 0 1 0 0 ITIH2 3698 broad.mit.edu 37 10 7765488 7765488 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr10:7765488C>T ENST00000358415.4 + 9 1108 c.942C>T c.(940-942)gtC>gtT p.V314V ITIH2_ENST00000379587.4_Silent_p.V303V NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 314 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TCCTCTTTGTCATCGATGTGA 0.433000 5 76 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153577807 153577807 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:153577807A>G ENST00000422373.1 - 46 7903 c.7655T>C c.(7654-7656)gTg>gCg p.V2552A FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000344736.4_Missense_Mutation_p.V2520A|FLNA_ENST00000369850.3_Missense_Mutation_p.V2560A|FLNA_ENST00000360319.4_Missense_Mutation_p.V2552A|FLNA_ENST00000369856.3_Missense_Mutation_p.V693A NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 2560 Self-association site, tail. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTTGGCCACCACCTTGCTGGC 0.652000 5 81 0 0 1 0 0 NUTM2F 54754 broad.mit.edu 37 9 97084496 97084496 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:97084496C>T ENST00000335456.7 - 3 849 c.829G>A c.(829-831)Gag>Aag p.E277K NUTM2F_ENST00000341207.4_Missense_Mutation_p.E277K|NUTM2F_ENST00000253262.4_Missense_Mutation_p.E277K NUT family member 2F TCCGCCATCTCGTAGAAGATC 0.642000 10 102 0 0 1 0 0 SLC25A14 9016 broad.mit.edu 37 X 129483264 129483264 + Silent SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:129483264C>A ENST00000543953.1 + 4 301 c.252C>A c.(250-252)acC>acA p.T84T SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Silent_p.T116T|SLC25A14_ENST00000339231.3_Silent_p.T116T|SLC25A14_ENST00000218197.5_Silent_p.T119T|SLC25A14_ENST00000545805.1_Silent_p.T119T O95258 UCP5_HUMAN solute carrier family 25 (mitochondrial carrier, brain), member 14 119 aerobic respiration|mitochondrial transport integral to plasma membrane|mitochondrial inner membrane binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1) 22 CATATGGCACCATTAAAATTG 0.343000 8 72 7.48243e-07 8.13597e-07 1 1 0 ARHGAP44 9912 broad.mit.edu 37 17 12847469 12847469 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:12847469G>A ENST00000379672.5 + 10 1117 c.817G>A c.(817-819)Gag>Aag p.E273K ARHGAP44_ENST00000340825.3_Missense_Mutation_p.E273K|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.E273K NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 273 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 CTTCCCCATCGAGGCGTGTGT 0.642000 8 44 0 0 1 0 0 PC 5091 broad.mit.edu 37 11 66638348 66638348 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:66638348A>G ENST00000393960.1 - 8 930 c.649T>C c.(649-651)Tac>Cac p.Y217H PC_ENST00000355677.3_Missense_Mutation_p.Y217H|PC_ENST00000524491.1_Missense_Mutation_p.Y177H|PC_ENST00000393958.2_Missense_Mutation_p.Y217H|PC_ENST00000393955.2_Missense_Mutation_p.Y217H NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 217 ATP-grasp.|Biotin carboxylation. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) GCCCGGGTGTAATTCTCCTCC 0.617000 10 140 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152765550 152765550 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:152765550T>C ENST00000367255.5 - 30 4434 c.3833A>G c.(3832-3834)cAc>cGc p.H1278R SYNE1_ENST00000413186.2_Missense_Mutation_p.H1278R|SYNE1_ENST00000367253.4_Missense_Mutation_p.H1278R|SYNE1_ENST00000265368.4_Missense_Mutation_p.H1278R|SYNE1_ENST00000448038.1_Missense_Mutation_p.H1285R|SYNE1_ENST00000341594.5_Missense_Mutation_p.H1344R|SYNE1_ENST00000367248.3_Missense_Mutation_p.H1268R|SYNE1_ENST00000423061.1_Missense_Mutation_p.H1285R NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1278 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTTTACCTGGTGATGAAGAAG 0.383000 HNSCC(10;0.0054) 9 120 0 0 1 0 0 HTR1B 3351 broad.mit.edu 37 6 78173080 78173080 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:78173080G>A ENST00000369947.2 - 1 410 c.41C>T c.(40-42)gCg>gTg p.A14V NM_000863.1 NP_000854.1 P28222 5HT1B_HUMAN 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled 14 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission integral to plasma membrane protein binding|serotonin receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 25 all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332) BRCA - Breast invasive adenocarcinoma(397;0.205) Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315) CTCGGAGCCCGCGGGCGGCGG 0.642000 13 79 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140230192 140230192 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:140230192C>T ENST00000378122.3 + 1 2836 c.2112C>T c.(2110-2112)atC>atT p.I704I PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.I704I|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_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) TCATCGCCATCTGCGCGGTGT 0.662000 9 87 0 0 1 0 0 TJP3 27134 broad.mit.edu 37 19 3747953 3747953 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:3747953G>A ENST00000541714.2 + 19 2946 c.2484G>A c.(2482-2484)ggG>ggA p.G828G TJP3_ENST00000589378.1_Silent_p.G837G|TJP3_ENST00000382008.3_Silent_p.G842G|TJP3_ENST00000587686.1_Silent_p.G847G|TJP3_ENST00000539908.2_Silent_p.G792G|TJP3_ENST00000262968.9_Silent_p.G861G NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 842 tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) GCGAGGGGGGGCCCTACACGG 0.692000 4 26 0 0 1 0 0 PSD3 23362 broad.mit.edu 37 8 18729698 18729698 + Nonsense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:18729698G>A ENST00000440756.2 - 3 778 c.676C>T c.(676-678)Cag>Tag p.Q226* PSD3_ENST00000523619.1_Nonsense_Mutation_p.Q161*|PSD3_ENST00000327040.8_Nonsense_Mutation_p.Q226* Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 226 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) ATCTCTGCCTGAGTGTCTCCA 0.473000 6 141 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62301181 62301181 + Silent SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:62301181G>C ENST00000378024.4 - 5 982 c.708C>G c.(706-708)ctC>ctG p.L236L AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 236 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CAGCACCTTGGAGCTCTGGTC 0.602000 5 98 0 0 1 0 0 LILRA2 11027 broad.mit.edu 37 19 55086049 55086049 + Splice_Site SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:55086049G>T ENST00000251377.3 + 4 485 c.352_splice c.e4+1 p.G118_splice LILRA2_ENST00000391737.1_Splice_Site_p.G106_splice|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Splice_Site_p.G118_splice|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391738.3_Splice_Site_p.G118_splice|LILRB1_ENST00000396321.2_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) GGTGGTGACAGGTGAGAGGAC 0.607000 7 66 5.18039e-06 5.59299e-06 1 1 0 VCPIP1 80124 broad.mit.edu 37 8 67578144 67578144 + Silent SNP G G A rs117246146 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:67578144G>A ENST00000310421.4 - 1 1308 c.1050C>T c.(1048-1050)tcC>tcT p.S350S NM_025054.4 NP_079330.2 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex interacting protein 1 350 OTU. protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) GGTTTCTACCGGAGCTGCTCC 0.483000 19 173 0 0 1 0 0 OTUD6B 51633 broad.mit.edu 37 8 92083441 92083441 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:92083441C>T ENST00000285420.4 + 2 347 c.248C>T c.(247-249)gCc>gTc p.A83V OTUD6B_ENST00000404789.3_5'UTR NM_016023.3 NP_057107.3 Q8N6M0 OTU6B_HUMAN OTU domain containing 6B 53 endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(11;0.0187) GAAGATGTGGCCAAGTTGGAA 0.393000 12 67 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262736 45262736 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:45262736T>C ENST00000303230.4 - 8 2017 c.1960A>G c.(1960-1962)Acg>Gcg p.T654A NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 654 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 GTCGGGGTCGTAGTAGACGAT 0.537000 16 80 0 0 1 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58601680 58601680 + Translation_Start_Site SNP A A T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:58601680A>T ENST00000240727.6 - 0 354 ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000601144.1_De_novo_Start_OutOfFrame|ZSCAN18_ENST00000600404.1_Silent_p.P41P NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GCCAGGGACAAGGTGGCTCCA 0.602000 4 10 0 0 1 0 0 TMEM131 23505 broad.mit.edu 37 2 98409014 98409014 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:98409014C>T ENST00000186436.5 - 31 4207 c.3979G>A c.(3979-3981)Gca>Aca p.A1327T NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1327 Pro-rich. integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 GAAGGGTGTGCGAGGGGGGCG 0.652000 3 15 0 0 1 0 0 TMED3 23423 broad.mit.edu 37 15 79606297 79606297 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:79606297G>C ENST00000299705.5 + 2 555 c.367G>C c.(367-369)Gag>Cag p.E123Q TMED3_ENST00000536821.1_Missense_Mutation_p.E123Q|TMED3_ENST00000424155.2_Missense_Mutation_p.E123Q NM_007364.2 NP_031390.1 Q9Y3Q3 TMED3_HUMAN transmembrane emp24 protein transport domain containing 3 123 protein transport ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane large_intestine(3)|lung(4)|ovary(1)|skin(1) 9 AGTGGGCGATGAGCCTCCCAT 0.522000 5 92 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7701100 7701100 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:7701100C>G ENST00000572933.1 + 53 9643 c.8183C>G c.(8182-8184)tCt>tGt p.S2728C DNAH2_ENST00000389173.2_Missense_Mutation_p.S2728C Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2728 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CTGTCACCCTCTGTCGTGCCC 0.522000 12 117 0 0 1 0 0 CHST5 23563 broad.mit.edu 37 16 75563209 75563209 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:75563209C>T ENST00000336257.3 - 3 2468 c.1074G>A c.(1072-1074)gcG>gcA p.A358A CHST5_ENST00000541075.1_Silent_p.A364A|RP11-77K12.7_ENST00000460606.1_3'UTR NM_024533.4 NP_078809.2 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 358 N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24 TGAAGGGCAACGCGTGGCGCC 0.652000 9 73 0 0 1 0 0 HOXC13 3229 broad.mit.edu 37 12 54338828 54338828 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:54338828C>T ENST00000243056.3 + 2 937 c.781C>T c.(781-783)Cgc>Tgc p.R261C NM_017410.2 NP_059106.2 P31276 HXC13_HUMAN homeobox C13 261 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(1)|skin(1) 3 CCGGCGCGGGCGCAAGAAACG 0.602000 T NUP98 AML 12 111 0 0 1 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138394405 138394405 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:138394405C>T ENST00000310018.2 - 21 2675 c.2393G>A c.(2392-2394)gGc>gAc p.G798D ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.G798D|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.G798D NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 798 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 AGCAGAGAGGCCCTCCATGAT 0.562000 11 212 0 0 1 0 0 RAC1 5879 broad.mit.edu 37 7 6441974 6441974 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:6441974C>T ENST00000348035.4 + 6 689 c.476C>T c.(475-477)gCg>gTg p.A159V RAC1_ENST00000356142.4_Missense_Mutation_p.A178V|RAC1_ENST00000488373.1_3'UTR NM_006908.4 NP_008839.2 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 159 actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding p.A159V(1)|p.A178V(1) cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) GAGTGCTCGGCGCTCACACAG 0.567000 11 61 0 0 1 0 0 SLC12A8 84561 broad.mit.edu 37 3 124839464 124839464 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:124839464G>A ENST00000423114.2 - 7 889 c.890C>T c.(889-891)tCc>tTc p.S297F SLC12A8_ENST00000314584.7_Missense_Mutation_p.S21F|SLC12A8_ENST00000469902.1_Missense_Mutation_p.S268F|SLC12A8_ENST00000430155.2_Missense_Mutation_p.S69F|SLC12A8_ENST00000393469.4_Missense_Mutation_p.S268F|SLC12A8_ENST00000465475.1_5'UTR A0AV02 S12A8_HUMAN solute carrier family 12, member 8 268 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 AGCTGCCAGGGAGCCCGGGGG 0.597000 3 25 0 0 1 0 0 FMO5 2330 broad.mit.edu 37 1 146658581 146658581 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:146658581C>T ENST00000254090.4 - 9 1888 c.1500G>A c.(1498-1500)atG>atA p.M500I FMO5_ENST00000441068.2_Intron|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000369272.3_3'UTR NM_001461.2 NP_001452.2 P49326 FMO5_HUMAN flavin containing monooxygenase 5 500 integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 25 all_hematologic(923;0.0487) CTACTCTTGTCATCAGAGGCT 0.448000 7 71 0 0 1 0 0 PALB2 79728 broad.mit.edu 37 16 23625399 23625399 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:23625399C>A ENST00000261584.4 - 11 3279 c.3127G>T c.(3127-3129)Ggt>Tgt p.G1043C CTD-2196E14.3_ENST00000561764.1_RNA NM_024675.3 NP_078951.2 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 1043 Interaction with RAD51 and BRCA2. double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) AGGAGTTGACCAGTTTTTAAA 0.343000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 3 31 0.004672 0.00476575 1 1 0 SIK3 23387 broad.mit.edu 37 11 116730111 116730111 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:116730111G>A ENST00000375300.1 - 19 2496 c.2491C>T c.(2491-2493)Cgc>Tgc p.R831C SIK3_ENST00000446921.2_Missense_Mutation_p.R831C|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000292055.4_Missense_Mutation_p.R773C|SIK3_ENST00000434315.2_Missense_Mutation_p.R672C|SIK3_ENST00000542607.1_Missense_Mutation_p.R773C|SIK3_ENST00000375288.1_Missense_Mutation_p.R168C Q9Y2K2 SIK3_HUMAN SIK family kinase 3 773 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 GAGATGCCGCGCCCACTGGAG 0.597000 OREG0003491 type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 6 47 0 0 1 0 0 ZNF311 282890 broad.mit.edu 37 6 28962832 28962832 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:28962832G>A ENST00000377179.3 - 7 2459 c.1947C>T c.(1945-1947)ctC>ctT p.L649L ZNF311_ENST00000483450.1_5'UTR NM_001010877.2 NP_001010877.2 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 649 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2) 28 TCACTGGAGAGAGGGATTTCC 0.413000 4 44 0 0 1 0 0 EDA 1896 broad.mit.edu 37 X 69255292 69255292 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:69255292G>A ENST00000374552.4 + 8 1251 c.1009G>A c.(1009-1011)Gag>Aag p.E337K EDA_ENST00000524573.1_Missense_Mutation_p.E332K|EDA_ENST00000374553.2_Missense_Mutation_p.E335K NM_001399.4 NP_001390.1 Q92838 EDA_HUMAN ectodysplasin A 337 cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1) 14 ACGCAGCATCGAGACGGGCAA 0.552000 5 51 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140604569 140604569 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:140604569C>A ENST00000239449.4 + 1 1492 c.1492C>A c.(1492-1494)Ctg>Atg p.L498M PCDHB14_ENST00000515856.2_Missense_Mutation_p.L345M NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 498 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGACCGGCACCTGCCCCTCGC 0.652000 12 188 1.5842e-08 1.73806e-08 1 1 0 PLEKHG2 64857 broad.mit.edu 37 19 39911453 39911453 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:39911453C>G ENST00000425673.1 + 13 1685 c.1360C>G c.(1360-1362)Cga>Gga p.R454G PLEKHG2_ENST00000378550.1_Missense_Mutation_p.R454G|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.R454G|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R395G|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.R454G Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 454 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) TCCTCGACCTCGAGATGCTAG 0.582000 15 102 0 0 1 0 0 MAGEA8 4107 broad.mit.edu 37 X 149013598 149013598 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:149013598C>T ENST00000535454.1 + 4 1101 c.552C>T c.(550-552)tgC>tgT p.C184C MAGEA8_ENST00000542674.1_Silent_p.C184C|MAGEA8_ENST00000286482.1_Silent_p.C184C NM_001166400.1 NP_001159872.1 P43361 MAGA8_HUMAN melanoma antigen family A, 8 184 MAGE. NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;6.56e-05) TTGTCACCTGCCTGGGCCTCT 0.552000 7 93 0 0 1 0 0 FAM166A 401565 broad.mit.edu 37 9 140138197 140138197 + Silent SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:140138197C>G ENST00000344774.4 - 7 963 c.909G>C c.(907-909)cgG>cgC p.R303R NM_001001710.1 NP_001001710.1 Q6J272 F166A_HUMAN family with sequence similarity 166, member A 303 kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2) 15 AGTAGGCCCTCCGGGTGCTGT 0.562000 10 186 0 0 1 0 0 DIO2 1734 broad.mit.edu 37 14 80677621 80677621 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:80677621C>G ENST00000557010.1 - 3 580 c.195G>C c.(193-195)aaG>aaC p.K65N DIO2_ENST00000422005.3_Missense_Mutation_p.K65N|DIO2_ENST00000557125.1_Intron|DIO2_ENST00000438257.4_Missense_Mutation_p.K65N|DIO2_ENST00000555750.1_Missense_Mutation_p.K65N NM_000793.5|NM_001242502.1|NM_001242503.1 NP_000784.2|NP_001229431.1|NP_001229432.1 Q92813 IOD2_HUMAN deiodinase, iodothyronine, type II 65 hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1) 25 BRCA - Breast invasive adenocarcinoma(234;0.0281) GGAGGAAGCTCTTCCAGACGC 0.612000 3 31 0 0 1 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1606150 1606150 + Silent SNP G G A rs148824156 byFrequency TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:1606150G>A ENST00000382171.2 - 1 363 c.330C>T c.(328-330)ggC>ggT p.G110G KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 110 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCCACAAGAGCCACAGCCCC 0.667000 5 48 0 0 1 0 0 CNGA4 1262 broad.mit.edu 37 11 6262839 6262839 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:6262839C>T ENST00000379936.2 + 5 1211 c.1096C>T c.(1096-1098)Ccc>Tcc p.P366S CNGA4_ENST00000533426.1_Missense_Mutation_p.P135S NM_001037329.3 NP_001032406.1 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 366 response to stimulus|sensory perception of smell cAMP binding endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGCTGCAGCCCCAGACCTA 0.562000 12 163 0 0 1 0 0 FAM90A1 55138 broad.mit.edu 37 12 8374654 8374654 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:8374654C>A ENST00000538603.1 - 7 1717 c.1159G>T c.(1159-1161)Gat>Tat p.D387Y FAM90A1_ENST00000307435.6_Missense_Mutation_p.D387Y NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 387 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) TGGGCCCCATCATGGCTGGCC 0.652000 4 40 0.150653 0.151149 1 1 0 FAT3 120114 broad.mit.edu 37 11 92086794 92086794 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:92086794T>C ENST00000298047.6 + 1 1533 c.1516T>C c.(1516-1518)Tac>Cac p.Y506H FAT3_ENST00000525166.1_Missense_Mutation_p.Y356H|FAT3_ENST00000541502.1_Missense_Mutation_p.Y506H|FAT3_ENST00000409404.2_Missense_Mutation_p.Y506H Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 506 Cadherin 5. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGAAAATGGGTACATCACCTA 0.393000 TCGA Ovarian(4;0.039) 7 110 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24443816 24443816 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:24443816C>T ENST00000355123.4 - 30 4140 c.3697G>A c.(3697-3699)Gag>Aag p.E1233K ITSN2_ENST00000406921.3_Missense_Mutation_p.E1233K|AC009228.1_ENST00000413989.1_RNA|AC009228.1_ENST00000430105.1_RNA|ITSN2_ENST00000361999.3_Missense_Mutation_p.E1206K NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 1233 DH. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTCCTCACCTCGACGACGAGC 0.552000 10 144 0 0 1 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123234044 123234044 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:123234044C>T ENST00000349780.4 - 16 2019 c.1840G>A c.(1840-1842)Gaa>Aaa p.E614K CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.E614K|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.E614K|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.E614K NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 614 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 CTCCGAATTTCGCTGatctgc 0.463000 13 77 0 0 1 0 0 EPB41L1 2036 broad.mit.edu 37 20 34809829 34809829 + Missense_Mutation SNP T T A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr20:34809829T>A ENST00000338074.2 + 20 2644 c.2483T>A c.(2482-2484)aTc>aAc p.I828N EPB41L1_ENST00000441639.1_Missense_Mutation_p.I726N|EPB41L1_ENST00000202028.5_Missense_Mutation_p.I726N|EPB41L1_ENST00000373946.3_Missense_Mutation_p.I648N|EPB41L1_ENST00000373941.1_Missense_Mutation_p.I827N|EPB41L1_ENST00000373950.2_Missense_Mutation_p.I719N NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 828 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) GAGAAGCGAATCATCATTACT 0.542000 7 88 0 0 1 0 0 ZG16B 124220 broad.mit.edu 37 16 2880712 2880712 + Nonsense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:2880712G>T ENST00000382280.3 + 3 257 c.178G>T c.(178-180)Gga>Tga p.G60* ZG16B_ENST00000572863.1_Nonsense_Mutation_p.G30* NM_145252.2 NP_660295.2 Q96DA0 ZG16B_HUMAN zymogen granule protein 16B 60 extracellular region sugar binding central_nervous_system(1)|lung(2)|ovary(1)|prostate(1) 5 TGGCCCTGGAGGAGGCAAGTA 0.532000 15 211 8.28177e-16 9.18524e-16 1 1 0 JAKMIP3 282973 broad.mit.edu 37 10 133950586 133950586 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr10:133950586G>A ENST00000298622.4 + 6 1318 c.1180G>A c.(1180-1182)Gag>Aag p.E394K NM_001105521.2 NP_001098991.1 Janus kinase and microtubule interacting protein 3 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) AAGTCAGGATGAGAGAGAAGT 0.512000 4 48 0 0 1 0 0 NR2E1 7101 broad.mit.edu 37 6 108492787 108492787 + Missense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:108492787G>T ENST00000368986.4 + 2 859 c.151G>T c.(151-153)Gtc>Ttc p.V51F NR2E1_ENST00000368983.3_Missense_Mutation_p.V88F NM_003269.3 NP_003260.1 Q9Y466 NR2E1_HUMAN nuclear receptor subfamily 2, group E, member 1 51 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3) 30 all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637) BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689) TAGGACCTATGTCTGCAAATC 0.577000 14 145 0.000219431 0.00023118 1 1 0 DIAPH1 1729 broad.mit.edu 37 5 140962827 140962827 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:140962827G>A ENST00000253811.6 - 6 706 c.566C>T c.(565-567)gCc>gTc p.A189V DIAPH1_ENST00000398566.3_Missense_Mutation_p.A180V|DIAPH1_ENST00000389054.3_Missense_Mutation_p.A189V|DIAPH1_ENST00000398557.4_Missense_Mutation_p.A189V|DIAPH1_ENST00000389057.5_Missense_Mutation_p.A180V|DIAPH1_ENST00000398562.2_Missense_Mutation_p.A180V|DIAPH1_ENST00000518047.1_Missense_Mutation_p.A180V|DIAPH1_ENST00000520569.1_Missense_Mutation_p.A135V O60610 DIAP1_HUMAN diaphanous-related formin 1 189 GBD/FH3. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAATAAGGAGGCCAAGCCTTC 0.413000 9 184 0 0 1 0 0 CARM1 10498 broad.mit.edu 37 19 11030598 11030598 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:11030598C>T ENST00000327064.4 + 10 1342 c.1152C>T c.(1150-1152)gtC>gtT p.V384V CARM1_ENST00000344150.4_Silent_p.V384V NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 384 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 CAGGGCTGGTCCACGGCCTGG 0.592000 4 43 0 0 1 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291342 141291342 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:141291342C>A ENST00000247452.3 - 3 779 c.432G>T c.(430-432)aaG>aaT p.K144N NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 144 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) ACTCGGCCACCTTTTCATCTA 0.493000 HNSCC(46;0.14) 9 183 1.12685e-05 1.21017e-05 1 1 0 AP4E1 23431 broad.mit.edu 37 15 51221216 51221216 + Nonsense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:51221216C>T ENST00000261842.5 + 6 659 c.553C>T c.(553-555)Cga>Tga p.R185* AP4E1_ENST00000560508.1_Nonsense_Mutation_p.R110* NM_001252127.1|NM_007347.4 NP_001239056.1|NP_031373.2 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 subunit 185 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) GGAGATTGTACGAAGAAAAGC 0.318000 7 44 0 0 1 0 0 EIF4B 1975 broad.mit.edu 37 12 53421849 53421849 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:53421849C>T ENST00000262056.9 + 8 1182 c.856C>T c.(856-858)Cgc>Tgc p.R286C EIF4B_ENST00000416762.3_Missense_Mutation_p.R247C|EIF4B_ENST00000420463.3_Missense_Mutation_p.R286C|RP11-983P16.4_ENST00000552905.1_RNA NM_001417.4 NP_001408.2 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 286 Arg-rich.|Asp-rich. insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1) 22 CAGTGGGTATCGCAGGGATGA 0.498000 8 81 0 0 1 0 0 ANKIB1 54467 broad.mit.edu 37 7 92027054 92027054 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:92027054A>G ENST00000265742.3 + 19 2789 c.2413A>G c.(2413-2415)Agc>Ggc p.S805G NM_019004.1 NP_061877.1 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 805 protein binding|zinc ion binding p.S805G(1) cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1) 41 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AGAAGGCGGCAGCAGCAGCCG 0.458000 30 217 0 0 1 0 0 AGO3 192669 broad.mit.edu 37 1 36520550 36520550 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:36520550A>G ENST00000373191.4 + 18 2627 c.2278A>G c.(2278-2280)Acc>Gcc p.T760A AGO3_ENST00000471099.1_3'UTR|AGO3_ENST00000246314.6_Missense_Mutation_p.T526A NM_024852.3 NP_079128.2 argonaute RISC catalytic component 3 TCTATAGGGTACCAGTCGTCC 0.408000 7 61 0 0 1 0 0 ATXN7L2 127002 broad.mit.edu 37 1 110030321 110030321 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:110030321G>A ENST00000369870.3 + 5 610 c.595G>A c.(595-597)Gag>Aag p.E199K NM_153340.4 NP_699171.3 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 199 breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1) 17 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) AGAGAACATCGAGATCATCCC 0.597000 6 98 0 0 1 0 0 TLR10 81793 broad.mit.edu 37 4 38776845 38776845 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:38776845C>T ENST00000308973.4 - 4 972 c.367G>A c.(367-369)Gat>Aat p.D123N TLR10_ENST00000361424.2_Missense_Mutation_p.D123N|TLR10_ENST00000508334.1_Missense_Mutation_p.D123N|TLR10_ENST00000506111.1_Missense_Mutation_p.D123N NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 123 inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 AAAGAAAGATCTAAATACCTG 0.373000 6 89 0 0 1 0 0 RBM6 10180 broad.mit.edu 37 3 50006080 50006080 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:50006080G>A ENST00000443081.1 + 3 1745 c.826G>A c.(826-828)Gat>Aat p.D276N RBM6_ENST00000539992.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000266022.4_Missense_Mutation_p.D408N|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000442092.1_Intron P78332 RBM6_HUMAN RNA binding motif protein 6 408 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) GGAGTACCGTGATGTGGATCA 0.522000 4 64 0 0 1 0 0 WWP2 11060 broad.mit.edu 37 16 69874159 69874159 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:69874159G>A ENST00000359154.2 + 5 572 c.471G>A c.(469-471)ctG>ctA p.L157L WWP2_ENST00000542271.1_Silent_p.L41L|WWP2_ENST00000448661.1_Silent_p.L157L|WWP2_ENST00000356003.2_Silent_p.L157L|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000569174.1_Silent_p.L157L NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 157 entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GCAGTGCCCTGACAGATGGTG 0.602000 10 84 0 0 1 0 0 TAS2R46 259292 broad.mit.edu 37 12 11214111 11214111 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:11214111G>A ENST00000533467.1 - 1 782 c.783C>T c.(781-783)ttC>ttT p.F261F PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176887.2 NP_795368.2 P59540 T2R46_HUMAN taste receptor, type 2, member 46 261 sensory perception of taste cilium membrane|integral to membrane G-protein coupled receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) CGCAGAACATGAAGACAGGTT 0.408000 18 259 0 0 1 0 0 PRR21 643905 broad.mit.edu 37 2 240981426 240981426 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:240981426G>C ENST00000408934.1 - 1 973 c.974C>G c.(973-975)tCt>tGt p.S325C NM_001080835.1 NP_001074304.1 Q8WXC7 PRR21_HUMAN proline rich 21 325 NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 29 CGTGGATGAAGAGGCATGGAC 0.597000 23 129 0 0 1 0 0 GBX2 2637 broad.mit.edu 37 2 237074823 237074823 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:237074823C>G ENST00000306318.4 - 2 1178 c.781G>C c.(781-783)Gag>Cag p.E261Q GBX2_ENST00000551105.1_3'UTR|GBX2_ENST00000465889.1_5'UTR NM_001485.2 NP_001476.2 P52951 GBX2_HUMAN gastrulation brain homeobox 2 261 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179) Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471) TTCTCTAGCTCCAGCAGCTGC 0.647000 4 68 0 0 1 0 0 TRBV6-8 28599 broad.mit.edu 37 7 142124196 142124196 + RNA SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:142124196G>A ENST00000390376.2 - 0 281 ACACCAGCCTGAGTGGGAAAT 0.507000 15 311 0 0 1 0 0 SETD1A 9739 broad.mit.edu 37 16 30974857 30974857 + Silent SNP G G A rs141357385 byFrequency TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:30974857G>A ENST00000262519.8 + 5 1307 c.621G>A c.(619-621)tcG>tcA p.S207S NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 207 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 TCCAAGGCTCGGGTGCAGCCA 0.572000 9 93 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8674637 8674637 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:8674637C>T ENST00000337907.3 - 5 1139 c.505G>A c.(505-507)Ggg>Agg p.G169R RERE_ENST00000400907.2_Missense_Mutation_p.G169R|RERE_ENST00000400908.2_Missense_Mutation_p.G169R NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 169 BAH. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) GGCCCTCTCCCGGCTTCAGAA 0.507000 14 102 0 0 1 0 0 MAST3 23031 broad.mit.edu 37 19 18242831 18242831 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:18242831C>T ENST00000262811.5 + 14 1458 c.1458C>T c.(1456-1458)atC>atT p.I486I NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 486 Protein kinase. ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 ACTATGGCATCGTGCACCGTG 0.642000 4 40 0 0 1 0 0 MTA1 9112 broad.mit.edu 37 14 105931110 105931110 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:105931110G>A ENST00000331320.7 + 15 1658 c.1444G>A c.(1444-1446)Gcc>Acc p.A482T MTA1_ENST00000435036.2_Missense_Mutation_p.A18T|MTA1_ENST00000406191.1_Missense_Mutation_p.A482T|MTA1_ENST00000405646.1_Missense_Mutation_p.A465T NM_001203258.1|NM_004689.3 NP_001190187.1|NP_004680.2 Q13330 MTA1_HUMAN metastasis associated 1 482 signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1) 14 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) GACGCGGATCGCCCGGCGCCT 0.677000 4 25 0 0 1 0 0 WDR7 23335 broad.mit.edu 37 18 54448880 54448880 + Silent SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr18:54448880C>A ENST00000254442.3 + 19 3394 c.3183C>A c.(3181-3183)gtC>gtA p.V1061V WDR7_ENST00000357574.3_Silent_p.V1028V|WDR7_ENST00000589935.1_Intron NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 1061 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) TAGACCACGTCATATCACGTA 0.453000 4 51 0.150653 0.151149 1 1 0 HRH1 3269 broad.mit.edu 37 3 11302128 11302128 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:11302128C>T ENST00000397056.1 + 3 1596 c.1405C>T c.(1405-1407)Ccc>Tcc p.P469S HRH1_ENST00000431010.2_Missense_Mutation_p.P469S|HRH1_ENST00000438284.2_Missense_Mutation_p.P469S NM_000861.3|NM_001098211.1 NP_000852.1|NP_001091681.1 P35367 HRH1_HUMAN histamine receptor H1 469 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) CCTCATCTACCCCTTGTGCAA 0.458000 19 173 0 0 1 0 0 TAF2 6873 broad.mit.edu 37 8 120772953 120772953 + Nonsense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:120772953G>A ENST00000378164.2 - 20 2882 c.2584C>T c.(2584-2586)Cag>Tag p.Q862* TAF2_ENST00000519355.1_5'UTR NM_003184.3 NP_003175.1 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 862 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CCGTTCTTCTGAAGTACCCGT 0.393000 9 105 0 0 1 0 0 GXYLT2 727936 broad.mit.edu 37 3 73004381 73004381 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:73004381G>C ENST00000389617.4 + 4 894 c.733G>C c.(733-735)Gaa>Caa p.E245Q NM_001080393.1 NP_001073862.1 A0PJZ3 GXLT2_HUMAN glucoside xylosyltransferase 2 245 O-glycan processing integral to membrane UDP-xylosyltransferase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 CCCTGAGCACGAAATCCCCAA 0.493000 5 37 0 0 1 0 0 ENPP2 5168 broad.mit.edu 37 8 120569896 120569896 + Silent SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:120569896G>C ENST00000427067.2 - 26 2700 c.2520C>G c.(2518-2520)ctC>ctG p.L840L ENPP2_ENST00000522826.1_Silent_p.L844L|ENPP2_ENST00000259486.6_Silent_p.L871L|ENPP2_ENST00000075322.6_Silent_p.L819L|ENPP2_ENST00000522167.1_Silent_p.L454L Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 819 Required for secretion (By similarity). cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GCATCTTCATGAGTTCTTCTA 0.463000 13 130 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149420 34149420 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:34149420G>A ENST00000346193.3 - 1 1027 c.976C>T c.(976-978)Cgc>Tgc p.R326C NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 326 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GGCTCCGGGCGGAGACTGGAC 0.617000 7 46 0 0 1 0 0 KIAA1614 57710 broad.mit.edu 37 1 180885980 180885980 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:180885980C>T ENST00000367588.4 + 2 796 c.741C>T c.(739-741)ggC>ggT p.G247G NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 247 p.G247G(2) NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 TTCCAGATGGCGTGGTGACAG 0.587000 17 185 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10430045 10430045 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:10430045T>C ENST00000245503.5 - 30 4442 c.4058A>G c.(4057-4059)tAt>tGt p.Y1353C MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.Y1353C NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1353 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CTCCTCCTCATACTGTTCCCG 0.582000 14 107 0 0 1 0 0 MARCH6 10299 broad.mit.edu 37 5 10415712 10415712 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:10415712G>A ENST00000274140.5 + 21 2211 c.2079G>A c.(2077-2079)acG>acA p.T693T MARCH6_ENST00000503788.1_Silent_p.T588T|MARCH6_ENST00000449913.2_Silent_p.T645T|MARCH6_ENST00000510792.1_Silent_p.T391T NM_005885.2 NP_005876.2 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase 693 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 GGGCTGTGACGGTGATGGTGG 0.483000 5 70 0 0 1 0 0 PARP4 143 broad.mit.edu 37 13 25072325 25072325 + Nonsense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr13:25072325G>A ENST00000381989.3 - 6 625 c.520C>T c.(520-522)Cag>Tag p.Q174* NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 174 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) CGCGAACACTGAAGCTCCACC 0.507000 7 48 0 0 1 0 0 KIAA0754 643314 broad.mit.edu 37 1 39876557 39876557 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:39876557A>G ENST00000530275.1 + 1 407 c.212A>G c.(211-213)cAa>cGa p.Q71R MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 71 13 X 13 AA approximate tandem repeat of P-T-S-P-A-A-A-V-P-T-P-E-E. central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCAGAGGTGCAAGATTTTAAA 0.438000 OREG0013393 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 83 0 0 1 0 0 SLC5A9 200010 broad.mit.edu 37 1 48703350 48703350 + Splice_Site SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:48703350G>A ENST00000236495.5 + 12 1417 c.e12-1 SLC5A9_ENST00000420136.2_Splice_Site|SLC5A9_ENST00000438567.2_Splice_Site|SLC5A9_ENST00000533824.1_Splice_Site NM_001135181.1 NP_001128653.1 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 9 integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1) 26 CTCTCTGGCAGAGTGTTTGTG 0.567000 5 55 0 0 1 0 0 TMPO 7112 broad.mit.edu 37 12 98926626 98926626 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:98926626G>A ENST00000266732.4 + 4 829 c.591G>A c.(589-591)gtG>gtA p.V197V TMPO_ENST00000343315.5_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000556029.1_Intron|TMPO_ENST00000393053.2_Intron NM_003276.2 NP_003267.1 P42167 LAP2B_HUMAN thymopoietin 197 NAKAP95-binding N.|Nucleoplasmic (Potential). integral to membrane|nuclear inner membrane DNA binding|lamin binding breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 ACAAGAAAGTGAAGTCCACTA 0.408000 8 107 0 0 1 0 0 MAPKAPK3 7867 broad.mit.edu 37 3 50683648 50683648 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:50683648G>A ENST00000446044.1 + 10 1378 c.782G>A c.(781-783)gGc>gAc p.G261D MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.G261D NM_001243926.1 NP_001230855.1 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated protein kinase 3 261 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity central_nervous_system(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) ATTCGCCTGGGCCAGTACGGC 0.592000 11 171 0 0 1 0 0 AASDHPPT 60496 broad.mit.edu 37 11 105962080 105962080 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:105962080G>A ENST00000278618.4 + 4 791 c.569G>A c.(568-570)gGa>gAa p.G190E RP11-677I18.3_ENST00000532422.1_RNA NM_015423.2 NP_056238.2 Q9NRN7 ADPPT_HUMAN aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase 190 macromolecule biosynthetic process|pantothenate metabolic process cytosol holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1) 17 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041) ATTGGTGTTGGACTAGGATTT 0.353000 14 114 0 0 1 0 0 ADCY6 112 broad.mit.edu 37 12 49169205 49169205 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:49169205C>T ENST00000307885.4 - 10 2555 c.1861G>A c.(1861-1863)Gag>Aag p.E621K ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000357869.3_Missense_Mutation_p.E621K|ADCY6_ENST00000550422.1_Missense_Mutation_p.E621K NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 621 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 ACCTCATCCTCAGGGTTCAGG 0.567000 8 62 0 0 1 0 0 CDH15 1013 broad.mit.edu 37 16 89254679 89254679 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:89254679C>T ENST00000289746.2 + 7 1029 c.964C>T c.(964-966)Ctg>Ttg p.L322L NM_004933.2 NP_004924.1 P55291 CAD15_HUMAN cadherin 15, type 1, M-cadherin (myotubule) 322 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.0261) CGAGGGTGTTCTGTCCATTGT 0.637000 3 27 0 0 1 0 0 BRWD3 254065 broad.mit.edu 37 X 80049247 80049247 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:80049247G>C ENST00000373275.4 - 5 421 c.205C>G c.(205-207)Cca>Gca p.P69A NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 69 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 AGGTAGTCTGGAGGAATGTGT 0.348000 5 46 0 0 1 0 0 PPFIA4 8497 broad.mit.edu 37 1 203025986 203025986 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:203025986G>A ENST00000367240.2 + 18 2779 c.2252G>A c.(2251-2253)cGc>cAc p.R751H PPFIA4_ENST00000447715.2_Missense_Mutation_p.R750H|PPFIA4_ENST00000599966.1_Missense_Mutation_p.R266H|PPFIA4_ENST00000295706.4_Missense_Mutation_p.R266H|PPFIA4_ENST00000272198.6_Missense_Mutation_p.R266H|PPFIA4_ENST00000414050.2_Missense_Mutation_p.R479H O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 266 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 GGCGCCAAGCGCAAGGGCATC 0.622000 8 42 0 0 1 0 0 AADACL3 126767 broad.mit.edu 37 1 12785336 12785336 + Silent SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:12785336C>A ENST00000332530.3 + 3 442 c.216C>A c.(214-216)gcC>gcA p.A72A AADACL3_ENST00000359318.5_Silent_p.A142A NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 142 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) GGGCAATAGCCGCAGTGGTTT 0.567000 12 134 5.16669e-11 5.69924e-11 1 1 0 TBCD 6904 broad.mit.edu 37 17 80763847 80763847 + Silent SNP C C T rs139258497 by1000genomes TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:80763847C>T ENST00000355528.4 + 10 1177 c.1047C>T c.(1045-1047)gaC>gaT p.D349D TBCD_ENST00000539345.2_Silent_p.D349D|TBCD_ENST00000397466.2_5'UTR NM_005993.4 NP_005984.3 Q9BTW9 TBCD_HUMAN tubulin folding cofactor D 349 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) aagatgacgacgaagatgacg 0.602000 4 43 0 0 1 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81051988 81051988 + Nonsense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr10:81051988C>T ENST00000334512.5 + 11 1404 c.832C>T c.(832-834)Cag>Tag p.Q278* ZMIZ1_ENST00000478357.1_3'UTR NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 278 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) TGACTTCACTCAGCCCgcggc 0.672000 13 128 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89431786 89431786 + RNA SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:89431786C>G ENST00000532352.1 + 0 2068 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TTTAGAGACTCTGTATTGAAT 0.343000 9 55 0 0 1 0 0 TRIM10 10107 broad.mit.edu 37 6 30122127 30122127 + Silent SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:30122127C>A ENST00000449742.2 - 7 1140 c.1065G>T c.(1063-1065)ctG>ctT p.L355L TRIM10_ENST00000376704.3_Silent_p.L355L NM_006778.3 NP_006769.2 Q9UDY6 TRI10_HUMAN tripartite motif containing 10 355 B30.2/SPRY. cytoplasm zinc ion binding ovary(1) 1 CAGTGTGGGCCAGAACACAGG 0.612000 4 37 0.00116845 0.00120397 1 1 0 ZFHX3 463 broad.mit.edu 37 16 72821615 72821615 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:72821615G>A ENST00000268489.5 - 10 11232 c.10560C>T c.(10558-10560)ggC>ggT p.G3520G AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3520 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccgccaccgccgc 0.706000 3 24 0 0 1 0 0 MYRF 745 broad.mit.edu 37 11 61539102 61539102 + Nonsense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:61539102C>T ENST00000278836.5 + 6 967 c.871C>T c.(871-873)Cga>Tga p.R291* TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Nonsense_Mutation_p.R282* NM_001127392.1 NP_001120864.1 myelin regulatory factor GCACCCCACTCGAGCCCCATC 0.657000 11 126 0 0 1 0 0 ORC5 5001 broad.mit.edu 37 7 103835694 103835694 + Silent SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:103835694T>C ENST00000545943.1 - 6 679 c.54A>G c.(52-54)agA>agG p.R18R ORC5_ENST00000485726.1_5'UTR|ORC5_ENST00000297431.4_Silent_p.R150R|ORC5_ENST00000447452.2_Silent_p.R150R O43913 ORC5_HUMAN origin recognition complex, subunit 5 150 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle cytoplasm|nuclear origin of replication recognition complex|nucleoplasm ATP binding|DNA replication origin binding|identical protein binding kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1) 14 CAGTCACATTTCTGTCAGCCT 0.348000 7 73 0 0 1 0 0 TMEM260 54916 broad.mit.edu 37 14 57092099 57092099 + Splice_Site SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:57092099G>C ENST00000261556.6 + 12 1520 c.e12-1 TMEM260_ENST00000536419.1_Splice_Site|TMEM260_ENST00000538838.1_Splice_Site NM_017799.3 NP_060269.3 transmembrane protein 260 TTTTCTGGCAGATGATGACTT 0.378000 6 86 0 0 1 0 0 CATSPER4 378807 broad.mit.edu 37 1 26520297 26520297 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:26520297C>T ENST00000456354.2 + 3 444 c.377C>T c.(376-378)tCt>tTt p.S126F NM_198137.1 NP_937770.1 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 126 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) GAGTTGTTCTCTACCATAGAT 0.507000 11 93 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40901949 40901949 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:40901949C>A ENST00000324001.7 - 7 2580 c.2310G>T c.(2308-2310)aaG>aaT p.K770N PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 770 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCTCTGGTGCCTTCGGAAGAT 0.592000 38 135 2.20474e-14 2.44081e-14 1 1 0 CACNA1E 777 broad.mit.edu 37 1 181689432 181689432 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:181689432C>G ENST00000526775.1 + 14 2007 c.1842C>G c.(1840-1842)atC>atG p.I614M CACNA1E_ENST00000360108.3_Missense_Mutation_p.I614M|CACNA1E_ENST00000367573.2_Missense_Mutation_p.I614M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.I614M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.I221M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.I565M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.I565M NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 614 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TCCTCTTCATCGTTGTCTTTG 0.468000 4 29 0 0 1 0 0 PPP1R21 129285 broad.mit.edu 37 2 48718299 48718299 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:48718299C>T ENST00000294952.8 + 15 1746 c.1589C>T c.(1588-1590)tCt>tTt p.S530F PPP1R21_ENST00000281394.4_Missense_Mutation_p.S530F|PPP1R21_ENST00000449090.2_Missense_Mutation_p.S530F NM_001135629.2 NP_001129101.1 Q6ZMI0 KLRAQ_HUMAN protein phosphatase 1, regulatory subunit 21 530 endometrium(2)|kidney(4)|lung(9) 15 TATATGAAGTCTTTGAGAAAG 0.383000 6 63 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 7 58 0.00198382 0.00203383 1 1 0 BCAN 63827 broad.mit.edu 37 1 156617836 156617836 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:156617836C>T ENST00000329117.4 + 5 1039 c.703C>T c.(703-705)Cgg>Tgg p.R235W RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.R235W NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 235 Link 1. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCCCGGGGTCCGGAACTATGG 0.517000 8 108 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29206468 29206468 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:29206468G>A ENST00000321990.4 + 18 4418 c.4040G>A c.(4039-4041)gGc>gAc p.G1347D NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1347 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) ATGTTTGATGGCTGCTTTGAA 0.294000 7 53 0 0 1 0 0 XPR1 9213 broad.mit.edu 37 1 180775644 180775644 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:180775644G>C ENST00000367590.4 + 6 830 c.632G>C c.(631-633)aGa>aCa p.R211T XPR1_ENST00000367589.3_Missense_Mutation_p.R211T NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 211 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 GATGGTGACAGACAAAAGGCT 0.373000 7 91 0 0 1 0 0 GCC2 9648 broad.mit.edu 37 2 109111839 109111839 + Missense_Mutation SNP G G C rs148279219 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:109111839G>C ENST00000309863.6 + 20 5254 c.4540G>C c.(4540-4542)Gag>Cag p.E1514Q NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 1514 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 AACCCGGGAAGAGGGAGAAGG 0.483000 4 39 0 0 1 0 0 FAM110B 90362 broad.mit.edu 37 8 59059120 59059120 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:59059120G>A ENST00000361488.3 + 5 1211 c.331G>A c.(331-333)Gtg>Atg p.V111M FAM110B_ENST00000520369.1_Intron NM_147189.2 NP_671722.1 Q8TC76 F110B_HUMAN family with sequence similarity 110, member B 111 microtubule organizing center|mitochondrion|nucleus breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2) 26 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) CGAGAGCGGCGTGCAGAGGGA 0.652000 4 37 0 0 1 0 0 TUSC3 7991 broad.mit.edu 37 8 15480730 15480730 + Nonsense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:15480730C>T ENST00000382020.4 + 2 488 c.280C>T c.(280-282)Cag>Tag p.Q94* TUSC3_ENST00000506802.1_Nonsense_Mutation_p.Q94*|TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000509380.1_Nonsense_Mutation_p.Q94*|TUSC3_ENST00000503731.1_Nonsense_Mutation_p.Q94* NM_178234.2 NP_839952.1 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 94 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2) 28 Colorectal(111;0.113) CACTGCTCTTCAGCCTCAGCG 0.323000 5 85 0 0 1 0 0 KBTBD13 390594 broad.mit.edu 37 15 65370407 65370407 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:65370407C>T ENST00000432196.2 + 1 1254 c.1254C>T c.(1252-1254)ggC>ggT p.G418G NM_001101362.2 NP_001094832.1 C9JR72 KBTBD_HUMAN kelch repeat and BTB (POZ) domain containing 13 418 cytoplasm lung(1)|prostate(1)|skin(1) 3 CCATCGAGGGCGGCACCTGGC 0.652000 5 14 0 0 1 0 0 PAPD5 64282 broad.mit.edu 37 16 50261849 50261849 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:50261849C>G ENST00000357464.3 + 12 1618 c.1618C>G c.(1618-1620)Cag>Gag p.Q540E PAPD5_ENST00000561678.1_Missense_Mutation_p.Q509E|PAPD5_ENST00000436909.3_Missense_Mutation_p.Q619E|PAPD5_ENST00000573002.1_3'UTR Q8NDF8 PAPD5_HUMAN PAP associated domain containing 5 493 cell division|DNA replication|histone mRNA catabolic process|mitosis cytoplasm|nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding p.Q619*(1) endometrium(1)|kidney(1)|lung(2) 4 all_cancers(37;0.0452) BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231) GGAGTCCTCTCAGGCAGTTGG 0.488000 4 43 0 0 1 0 0 SLC13A2 9058 broad.mit.edu 37 17 26820669 26820669 + Missense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:26820669G>T ENST00000444914.3 + 7 1526 c.1106G>T c.(1105-1107)aGg>aTg p.R369M SLC13A2_ENST00000545060.1_Missense_Mutation_p.R277M|SLC13A2_ENST00000537681.1_Missense_Mutation_p.R249M|SLC13A2_ENST00000314669.5_Missense_Mutation_p.R320M NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 320 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) ACCGAGCACAGGCTGCTGGGC 0.587000 6 47 0.248553 0.248961 1 1 0 FAM161B 145483 broad.mit.edu 37 14 74411195 74411195 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:74411195C>T ENST00000286544.3 - 3 1155 c.957G>A c.(955-957)ttG>ttA p.L319L FAM161B_ENST00000534936.1_Silent_p.L256L NM_152445.2 NP_689658.2 family with sequence similarity 161, member B breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2) 21 TGAAGGGCTTCAAAGAAGAGA 0.562000 6 100 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48428758 48428758 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:48428758C>G ENST00000435803.1 + 37 11619 c.11595C>G c.(11593-11595)ttC>ttG p.F3865L NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3865 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GCCTGACCTTCTACAGAGACC 0.537000 9 58 0 0 1 0 0 IL9R 3581 broad.mit.edu 37 X 155239824 155239824 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:155239824A>G ENST00000424344.3 + 10 1620 c.1253A>G c.(1252-1254)aAc>aGc p.N418S IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000244174.5_Missense_Mutation_p.N439S Q01113 IL9R_HUMAN interleukin 9 receptor 439 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity p.N439S(1) NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) agcagcagcaacaacaacaAC 0.642000 5 17 0 0 1 0 0 NFATC1 4772 broad.mit.edu 37 18 77170881 77170881 + Silent SNP G G A rs146509068 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr18:77170881G>A ENST00000253506.5 + 2 975 c.606G>A c.(604-606)acG>acA p.T202T NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Silent_p.T202T|NFATC1_ENST00000427363.2_Silent_p.T202T|NFATC1_ENST00000329101.4_Silent_p.T189T|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Silent_p.T202T|NFATC1_ENST00000592223.1_Silent_p.T189T|NFATC1_ENST00000591814.1_Silent_p.T202T|NFATC1_ENST00000586434.1_Silent_p.T189T|NFATC1_ENST00000318065.5_Silent_p.T189T NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 202 Trans-activation domain A (TAD-A). intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CCCCCCAGACGTCGCCATGGC 0.697000 11 101 0 0 1 0 0 UBQLN3 50613 broad.mit.edu 37 11 5530434 5530434 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:5530434G>C ENST00000311659.4 - 2 502 c.355C>G c.(355-357)Cag>Gag p.Q119E HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 119 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAGCTTGGCTGAGGGAGTGAT 0.607000 4 46 0 0 1 0 0 FAM117A 81558 broad.mit.edu 37 17 47797166 47797166 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:47797166C>G ENST00000240364.2 - 5 743 c.664G>C c.(664-666)Gag>Cag p.E222Q RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000514018.1_5'UTR|FAM117A_ENST00000513602.1_5'UTR NM_030802.3 NP_110429.1 Q9C073 F117A_HUMAN family with sequence similarity 117, member A 222 haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 17 AATACCTCCTCCAGCTCTTGG 0.637000 8 93 0 0 1 0 0 ME2 4200 broad.mit.edu 37 18 48465980 48465980 + Silent SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr18:48465980T>C ENST00000321341.5 + 14 1730 c.1458T>C c.(1456-1458)atT>atC p.I486I ME2_ENST00000585680.1_Intron|ME2_ENST00000382927.3_Intron NM_002396.4 NP_002387.1 P23368 MAOM_HUMAN malic enzyme 2, NAD(+)-dependent, mitochondrial 486 malate metabolic process mitochondrial matrix electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3) 23 Colorectal(6;0.0273)|all_epithelial(6;0.118) Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184) NADH(DB00157) CCCGGCATATTAGTGACAGTG 0.299000 5 85 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13095576 13095576 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr18:13095576C>T ENST00000506447.1 + 35 6409 c.6329C>T c.(6328-6330)tCt>tTt p.S2110F CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.S1635F|CEP192_ENST00000325971.8_Missense_Mutation_p.S1514F NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1705 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 CCTCAGGGTTCTCCTCTTCTC 0.507000 8 75 0 0 1 0 0 MICAL1 64780 broad.mit.edu 37 6 109765452 109765452 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:109765452C>T ENST00000368952.4 - 25 3493 c.3203G>A c.(3202-3204)cGc>cAc p.R1068H MICAL1_ENST00000358577.3_Missense_Mutation_p.R963H|MICAL1_ENST00000358807.3_Missense_Mutation_p.R1049H Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 1049 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) CTCCTGGAAGCGGATGAGGGC 0.592000 4 43 0 0 1 0 0 DNMBP 23268 broad.mit.edu 37 10 101715777 101715777 + Nonsense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr10:101715777G>C ENST00000342239.3 - 4 1545 c.1454C>G c.(1453-1455)tCa>tGa p.S485* DNMBP_ENST00000324109.4_Nonsense_Mutation_p.S485*|DNMBP-AS1_ENST00000434409.1_RNA Q6XZF7 DNMBP_HUMAN dynamin binding protein 485 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) CCTTGAAGCTGAAACAGAAGA 0.463000 7 117 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88962840 88962840 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:88962840C>T ENST00000333190.4 + 4 1153 c.544C>T c.(544-546)Cgg>Tgg p.R182W NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 182 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CGATAAACAGCGGTCCACCAT 0.413000 HNSCC(36;0.09) 5 79 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 62055216 62055216 + Missense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:62055216G>T ENST00000577390.1 - 2 1046 c.92C>A c.(91-93)cCg>cAg p.P31Q CDH8_ENST00000577730.1_Missense_Mutation_p.P31Q|CDH8_ENST00000299345.6_Missense_Mutation_p.P31Q|CDH8_ENST00000584337.1_Missense_Mutation_p.P31Q NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 31 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CTGATTCATCGGAGCCATGTA 0.458000 7 88 5.18039e-06 5.59299e-06 1 1 0 ANKS6 203286 broad.mit.edu 37 9 101552604 101552604 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:101552604G>A ENST00000353234.4 - 2 691 c.644C>T c.(643-645)gCg>gTg p.A215V ANKS6_ENST00000375018.1_Missense_Mutation_p.A215V|ANKS6_ENST00000540940.1_Missense_Mutation_p.A20V|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000471846.1_5'UTR Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain containing 6 215 endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 21 Acute lymphoblastic leukemia(62;0.0527) GTTGGGGTCCGCGCCCCACTC 0.692000 6 51 0 0 1 0 0 KYNU 8942 broad.mit.edu 37 2 143676239 143676239 + Silent SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:143676239C>A ENST00000264170.4 + 3 489 c.231C>A c.(229-231)ggC>ggA p.G77G KYNU_ENST00000410015.2_Silent_p.G77G|KYNU_ENST00000409512.1_Silent_p.G77G|KYNU_ENST00000375773.2_Silent_p.G77G NM_003937.2 NP_003928.1 Q16719 KYNU_HUMAN kynureninase 77 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) ATTCTCTTGGCCTTCAACCAA 0.279000 5 51 0.000602214 0.000622628 1 1 0 COL16A1 1307 broad.mit.edu 37 1 32163681 32163681 + Silent SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:32163681G>T ENST00000373672.3 - 6 999 c.483C>A c.(481-483)ccC>ccA p.P161P COL16A1_ENST00000271069.6_Silent_p.P161P|COL16A1_ENST00000373668.3_Silent_p.P161P NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 161 TSP N-terminal. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) CGAAGAGCTGGGGCACTGGGA 0.617000 9 68 1.12685e-05 1.21017e-05 1 1 0 CDH9 1007 broad.mit.edu 37 5 26906877 26906877 + Silent SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:26906877G>C ENST00000231021.4 - 4 766 c.594C>G c.(592-594)gtC>gtG p.V198V NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 198 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 ATATGCTATAGACCACTTTGG 0.398000 4 52 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31816027 31816027 + Silent SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr10:31816027A>G ENST00000446923.2 + 9 3553 c.3162A>G c.(3160-3162)gaA>gaG p.E1054E ZEB1_ENST00000560721.2_Silent_p.E1050E|ZEB1_ENST00000542815.3_Silent_p.E1003E|ZEB1_ENST00000361642.5_Silent_p.E1071E|ZEB1_ENST00000320985.10_Silent_p.E1070E NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 1070 Glu-rich (acidic). cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) aggaggaggaagaagtggaag 0.448000 3 20 0 0 1 0 0 GCM1 8521 broad.mit.edu 37 6 52998973 52998973 + Silent SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:52998973G>T ENST00000259803.7 - 3 436 c.225C>A c.(223-225)tcC>tcA p.S75S NM_003643.3 NP_003634.2 Q9NP62 GCM1_HUMAN glial cells missing homolog 1 (Drosophila) 75 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1) 24 Lung NSC(77;0.0755) CACCCAGGCAGGACTTCTTGA 0.607000 7 87 1.6384e-10 1.80401e-10 1 1 0 NCKAP1L 3071 broad.mit.edu 37 12 54894338 54894338 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:54894338C>T ENST00000293373.6 + 3 314 c.235C>T c.(235-237)Cgt>Tgt p.R79C NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R29C NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 79 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity p.R79C(1) NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 ACCAGTACATCGTGAAAAAGC 0.378000 9 163 0 0 1 0 0 NOA1 84273 broad.mit.edu 37 4 57843646 57843646 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:57843646A>G ENST00000264230.4 - 1 1343 c.106T>C c.(106-108)Tgc>Cgc p.C36R NM_032313.2 NP_115689.1 Q8NC60 CD014_HUMAN nitric oxide associated 1 36 GTP binding GCGGCAGCGCACCTCCTCTCC 0.657000 4 40 0 0 1 0 0 WFDC3 140686 broad.mit.edu 37 20 44404233 44404233 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr20:44404233C>T ENST00000243938.4 - 6 585 c.502G>A c.(502-504)Ggt>Agt p.G168S WFDC3_ENST00000372630.2_Missense_Mutation_p.G31S|WFDC3_ENST00000372632.2_Missense_Mutation_p.G74S|WFDC3_ENST00000481847.1_5'UTR NM_080614.1 NP_542181.1 Q8IUB2 WFDC3_HUMAN WAP four-disulfide core domain 3 168 WAP 4. extracellular region serine-type endopeptidase inhibitor activity endometrium(1)|large_intestine(3)|prostate(1) 5 Myeloproliferative disorder(115;0.0122) GGACAATCACCGCCCCGCCCT 0.532000 6 83 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12978714 12978714 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:12978714C>T ENST00000251472.4 + 20 2528 c.2489C>T c.(2488-2490)gCg>gTg p.A830V NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 830 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 TCCGACCCCGCGGGATCCCTG 0.711000 6 21 0 0 1 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42104154 42104154 + Splice_Site SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:42104154G>A ENST00000457542.2 + 6 613 c.e6-1 MAPKBP1_ENST00000456763.2_Splice_Site|MAPKBP1_ENST00000260357.7_Splice_Site|MAPKBP1_ENST00000514566.1_Splice_Site|MAPKBP1_ENST00000221214.6_Splice_Site NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) CCTCCCTGCAGAGTGGGCACA 0.607000 OREG0023077 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 49 0 0 1 0 0 ZNF880 400713 broad.mit.edu 37 19 52887776 52887776 + Nonsense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:52887776C>T ENST00000422689.2 + 4 958 c.943C>T c.(943-945)Cag>Tag p.Q315* NM_001145434.1 NP_001138906.1 Q6PDB4 ZN880_HUMAN zinc finger protein 880 315 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 TGCACGACATCAGAAAATTCA 0.423000 8 43 0 0 1 0 0 PSG2 5670 broad.mit.edu 37 19 43585208 43585208 + Silent SNP G G A rs148293206 by1000genomes TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:43585208G>A ENST00000406487.1 - 2 353 c.255C>T c.(253-255)gaC>gaT p.D85D NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 85 Ig-like V-type. cell migration|female pregnancy extracellular region p.D85D(1) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) TTATTTGACCGTCTACTACAT 0.443000 14 363 0 0 1 0 0 SMARCD3 6604 broad.mit.edu 37 7 150945607 150945607 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:150945607C>T ENST00000262188.8 - 1 452 c.42G>A c.(40-42)acG>acA p.T14T SMARCD3_ENST00000392811.2_Intron|SMARCD3_ENST00000477169.1_Intron|SMARCD3_ENST00000356800.2_Intron NM_001003801.1 NP_001003801.1 Q6STE5 SMRD3_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 14 cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2) 15 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTTTGCTTTTCGTGGCTTTGC 0.592000 5 99 0 0 1 0 0 IGFBP3 3486 broad.mit.edu 37 7 45956231 45956231 + Missense_Mutation SNP A A T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:45956231A>T ENST00000275521.6 - 3 799 c.666T>A c.(664-666)aaT>aaA p.N222K IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381083.4_Missense_Mutation_p.N228K|IGFBP3_ENST00000381086.5_Missense_Mutation_p.N125K NM_000598.4|NM_001013398.1 NP_000589.2|NP_001013416.1 P17936 IBP3_HUMAN insulin-like growth factor binding protein 3 222 Thyroglobulin type-1. negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth nucleus insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity large_intestine(6)|lung(7)|pancreas(1)|prostate(3) 17 Mecasermin(DB01277) ACTTCAGGTGATTCAGTGTGT 0.463000 12 119 0 0 1 0 0 SCAF11 9169 broad.mit.edu 37 12 46322292 46322292 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:46322292C>G ENST00000465950.1 - 1 1456 c.247G>C c.(247-249)Gaa>Caa p.E83Q SCAF11_ENST00000549162.1_Missense_Mutation_p.E206Q|SCAF11_ENST00000369367.3_Missense_Mutation_p.E398Q|SCAF11_ENST00000419565.2_Missense_Mutation_p.E398Q Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 398 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 GATGATTTTTCAGGGGCAGCT 0.408000 8 119 0 0 1 0 0 TACC3 10460 broad.mit.edu 37 4 1729444 1729444 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:1729444C>T ENST00000313288.4 + 4 421 c.315C>T c.(313-315)ctC>ctT p.L105L NM_006342.2 NP_006333.1 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing protein 3 105 centrosome central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) GCCAACAGCTCATCAAGGAAG 0.483000 31 350 0 0 1 0 0 CCER1 196477 broad.mit.edu 37 12 91348417 91348417 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:91348417A>G ENST00000358859.2 - 1 536 c.103T>C c.(103-105)Tgg>Cgg p.W35R CCER1_ENST00000548187.1_Intron NM_152638.2 NP_689851.1 coiled-coil glutamate-rich protein 1 CAGGACGACCAGGAGCTCAAG 0.657000 3 15 0 0 1 0 0 PSENEN 55851 broad.mit.edu 37 19 36237739 36237739 + Silent SNP C C T rs148274462 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:36237739C>T ENST00000587708.2 + 4 980 c.297C>T c.(295-297)ggC>ggT p.G99G PSENEN_ENST00000591949.1_3'UTR|AC002398.9_ENST00000591613.2_Intron|PSENEN_ENST00000222266.2_Silent_p.G99G Q9NZ42 PEN2_HUMAN presenilin enhancer gamma secretase subunit 99 amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane aspartic-type endopeptidase activity|protein binding central_nervous_system(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|prostate(1) 8 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TACCCCTGGGCACCCCCTGAC 0.592000 8 37 0 0 1 0 0 TMEM189 387521 broad.mit.edu 37 20 48744600 48744600 + Silent SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr20:48744600G>C ENST00000557021.1 - 5 763 c.603C>G c.(601-603)ctC>ctG p.L201L TMEM189_ENST00000371652.4_Silent_p.L201L|TMEM189_ENST00000371650.5_Silent_p.L198L|TMEM189-UBE2V1_ENST00000341698.2_Silent_p.L201L|TMEM189_ENST00000371656.2_Silent_p.L126L NM_199203.2 NP_954673.1 transmembrane protein 189 breast(1)|endometrium(2)|large_intestine(3)|lung(2) 8 BRCA - Breast invasive adenocarcinoma(9;3.02e-07) AGTCCTGCAGGAGGGTGACCC 0.587000 7 58 0 0 1 0 0 MAGEA5 4104 broad.mit.edu 37 X 151284016 151284016 + RNA SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:151284016G>A ENST00000509345.2 - 0 320 GAGACATGACGACTCTGGTCA 0.592000 9 146 0 0 1 0 0 AUP1 550 broad.mit.edu 37 2 74756406 74756406 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:74756406G>A ENST00000377526.3 - 3 501 c.192C>T c.(190-192)ttC>ttT p.F64F NM_181575.3 NP_853553.1 Q9Y679 AUP1_HUMAN ancient ubiquitous protein 1 87 endoplasmic reticulum membrane|integral to membrane|nucleus protein binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 11 TCCGCACTACGAATCTGGGGA 0.637000 4 30 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109383191 109383191 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:109383191G>A ENST00000283195.6 + 20 6322 c.6196G>A c.(6196-6198)Gag>Aag p.E2066K NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 2066 RanBD1 2. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TCTCAAAAACGAGGTCAATGG 0.398000 38 414 0 0 1 0 0 CUL1 8454 broad.mit.edu 37 7 148463737 148463737 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:148463737G>A ENST00000325222.4 + 8 1153 c.874G>A c.(874-876)Gaa>Aaa p.E292K CUL1_ENST00000602748.1_Missense_Mutation_p.E292K|CUL1_ENST00000409469.1_Missense_Mutation_p.E292K NM_003592.2 NP_003583.2 Q13616 CUL1_HUMAN cullin 1 292 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) AAGGAAATGTGAACAAGTCCT 0.378000 13 54 0 0 1 0 0 GALNT16 57452 broad.mit.edu 37 14 69813867 69813867 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:69813867G>A ENST00000337827.4 + 13 1709 c.1382G>A c.(1381-1383)aGa>aAa p.R461K GALNT16_ENST00000553669.1_Missense_Mutation_p.R461K|GALNT16_ENST00000448469.3_Missense_Mutation_p.R461K NM_001168368.1|NM_020692.2 NP_001161840.1|NP_065743.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 GGGATCTGCAGAGGGTCTGCC 0.592000 OREG0022763 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 34 0 0 1 0 0 TNPO2 30000 broad.mit.edu 37 19 12826503 12826503 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:12826503C>T ENST00000425528.1 - 6 733 c.376G>A c.(376-378)Gag>Aag p.E126K TNPO2_ENST00000356861.5_Missense_Mutation_p.E126K|TNPO2_ENST00000592287.1_Missense_Mutation_p.E126K|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000441499.1_Missense_Mutation_p.E126K|TNPO2_ENST00000450764.2_Missense_Mutation_p.E126K|TNPO2_ENST00000588216.1_Missense_Mutation_p.E126K O14787 TNPO2_HUMAN transportin 2 126 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 GGCAGCAGCTCGGGCCACATC 0.617000 3 21 0 0 1 0 0 MAP3K19 80122 broad.mit.edu 37 2 135745629 135745629 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:135745629C>T ENST00000375845.3 - 7 843 c.813G>A c.(811-813)tcG>tcA p.S271S MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.S288S|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.S158S|MAP3K19_ENST00000315513.3_5'UTR NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 GATCCATCAACGACTTAACTA 0.483000 18 85 0 0 1 0 0 FAM161B 145483 broad.mit.edu 37 14 74411111 74411111 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:74411111C>G ENST00000286544.3 - 3 1239 c.1041G>C c.(1039-1041)aaG>aaC p.K347N FAM161B_ENST00000534936.1_Missense_Mutation_p.K284N NM_152445.2 NP_689658.2 family with sequence similarity 161, member B breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2) 21 GCTTGGAGATCTTGGCTTCAG 0.542000 8 145 0 0 1 0 0 PDE4B 5142 broad.mit.edu 37 1 66827446 66827446 + Silent SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:66827446C>G ENST00000423207.2 + 8 1430 c.945C>G c.(943-945)gtC>gtG p.V315V PDE4B_ENST00000371045.5_Silent_p.V158V|PDE4B_ENST00000371049.3_Silent_p.V330V|PDE4B_ENST00000329654.4_Silent_p.V330V|PDE4B_ENST00000480109.2_Silent_p.V97V NM_001037340.1 NP_001032417.1 Q07343 PDE4B_HUMAN phosphodiesterase 4B, cAMP-specific 330 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) GCTTTGGAGTCAACACTGAAA 0.418000 6 57 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62291421 62291421 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:62291421C>T ENST00000378024.4 - 5 10742 c.10468G>A c.(10468-10470)Gaa>Aaa p.E3490K AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3490 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCTGGCCCTTCTGCTTTTAAG 0.463000 7 129 0 0 1 0 0 RPRML 388394 broad.mit.edu 37 17 45056080 45056080 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:45056080C>G ENST00000322329.3 - 1 534 c.294G>C c.(292-294)atG>atC p.M98I RP11-156P1.2_ENST00000571841.1_Intron|LRRC37A17P_ENST00000570478.1_RNA|GOSR2_ENST00000439730.2_Intron NM_203400.4 NP_981945.1 Q8N4K4 RPRML_HUMAN reprimo-like 98 integral to membrane lung(1) 1 GAAAGTTGATCATGCTCTCGG 0.657000 4 16 0 0 1 0 0 TOP1MT 116447 broad.mit.edu 37 8 144398271 144398271 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:144398271G>C ENST00000523676.1 - 12 1467 c.1062C>G c.(1060-1062)atC>atG p.I354M TOP1MT_ENST00000521193.1_Missense_Mutation_p.I354M|TOP1MT_ENST00000519148.1_Missense_Mutation_p.I354M|TOP1MT_ENST00000329245.4_Missense_Mutation_p.I452M Q969P6 TOP1M_HUMAN topoisomerase (DNA) I, mitochondrial 452 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 23 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) TGTAGGATAAGATCTTAGCTG 0.602000 6 77 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76937131 76937131 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:76937131G>C ENST00000373344.5 - 9 3831 c.3617C>G c.(3616-3618)tCt>tGt p.S1206C ATRX_ENST00000395603.3_Missense_Mutation_p.S1168C|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1206 Poly-Ser. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TTCTATATCAGAAGAAGATGA 0.378000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 8 192 0 0 1 0 0 IRGQ 126298 broad.mit.edu 37 19 44099016 44099016 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:44099016C>T ENST00000422989.1 - 2 630 c.475G>A c.(475-477)Gag>Aag p.E159K IRGQ_ENST00000602269.1_Missense_Mutation_p.E159K NM_001007561.2 NP_001007562.1 Q8WZA9 IRGQ_HUMAN immunity-related GTPase family, Q 159 protein binding endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3) 18 Prostate(69;0.0199) TCTAGCTCCTCGCAGCCGTCG 0.667000 13 24 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38919111 38919111 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:38919111G>A ENST00000359357.3 + 80 11869 c.11615G>A c.(11614-11616)cGt>cAt p.R3872H RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.R4089H|DNAH8_ENST00000441566.1_Missense_Mutation_p.R3836H dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TGCCCAGACCGTACTGTTTTT 0.338000 16 144 0 0 1 0 0 MRPL17 63875 broad.mit.edu 37 11 6704001 6704001 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:6704001G>A ENST00000288937.6 - 2 324 c.220C>T c.(220-222)Cgc>Tgc p.R74C NM_022061.3 NP_071344.1 Q9NRX2 RM17_HUMAN mitochondrial ribosomal protein L17 74 translation ribosome protein domain specific binding|structural constituent of ribosome lung(4) 4 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCAGCCATGCGCATGGCTCGT 0.527000 3 32 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165947702 165947702 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:165947702G>A ENST00000360093.3 - 28 5452 c.4961C>T c.(4960-4962)gCg>gTg p.A1654V SCN3A_ENST00000540861.1_Missense_Mutation_p.A137V|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Missense_Mutation_p.A1654V|SCN3A_ENST00000409101.3_Missense_Mutation_p.A1605V NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1654 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) GTTAAACAACGCAGGAAGGGA 0.483000 7 163 0 0 1 0 0 COL26A1 136227 broad.mit.edu 37 7 101063333 101063333 + RNA SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:101063333C>T ENST00000313669.7 + 0 426 COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA NM_133457.2 NP_597714.2 collagen, type XXVI, alpha 1 TGGTCCAGCGCGTGTACCAGA 0.642000 6 31 0 0 1 0 0 ACADVL 37 broad.mit.edu 37 17 7127027 7127027 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:7127027C>T ENST00000356839.5 + 12 1426 c.1247C>T c.(1246-1248)gCc>gTc p.A416V ACADVL_ENST00000350303.5_Missense_Mutation_p.A394V|ACADVL_ENST00000543245.2_Missense_Mutation_p.A439V NM_000018.3|NM_001270448.1 NP_000009.1|NP_001257377.1 P49748 ACADV_HUMAN acyl-CoA dehydrogenase, very long chain 416 Catalytic. energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial inner membrane|mitochondrial nucleoid long-chain-acyl-CoA dehydrogenase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1) 21 ATAGAGGCCGCCATCAGCAAA 0.532000 10 101 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3961447 3961447 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:3961447G>A ENST00000381638.2 - 32 5130 c.5006C>T c.(5005-5007)tCc>tTc p.S1669F NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 1669 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 AGGGAGCAAGGACCTAAAGGG 0.468000 3 34 0 0 1 0 0 PDLIM3 27295 broad.mit.edu 37 4 186425655 186425655 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:186425655G>A ENST00000284770.5 - 7 952 c.879C>T c.(877-879)ctC>ctT p.L293L PDLIM3_ENST00000284771.6_Silent_p.L245L|PDLIM3_ENST00000284767.5_3'UTR NM_014476.5 NP_055291.2 Q53GG5 PDLI3_HUMAN PDZ and LIM domain 3 293 LIM zinc-binding. sarcomere zinc ion binding breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171) ATTTGTCACAGAGCGGCATCC 0.502000 5 33 0 0 1 0 0 TPCN1 53373 broad.mit.edu 37 12 113704019 113704019 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:113704019C>T ENST00000550785.1 + 5 657 c.488C>T c.(487-489)cCc>cTc p.P163L TPCN1_ENST00000335509.6_Missense_Mutation_p.P91L|TPCN1_ENST00000541517.1_Missense_Mutation_p.P163L|TPCN1_ENST00000392569.4_Missense_Mutation_p.P23L NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 91 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 TTCACCCACCCCAAGGATGCC 0.582000 24 202 0 0 1 0 0 SLC7A1 6541 broad.mit.edu 37 13 30104749 30104749 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr13:30104749C>T ENST00000380752.5 - 5 1016 c.630G>A c.(628-630)gtG>gtA p.V210V NM_003045.4 NP_003036.1 P30825 CTR1_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 210 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2) 24 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) CCGATCCTTTCACAAATCCTG 0.443000 19 144 0 0 1 0 0 OSGIN1 29948 broad.mit.edu 37 16 83999318 83999318 + Silent SNP C C T rs149907599 byFrequency TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:83999318C>T ENST00000343939.2 + 7 1772 c.1389C>T c.(1387-1389)ctC>ctT p.L463L OSGIN1_ENST00000393306.1_Silent_p.L380L|OSGIN1_ENST00000361711.3_Silent_p.L380L Q9UJX0 OSGI1_HUMAN oxidative stress induced growth inhibitor 1 463 cell differentiation|multicellular organismal development|negative regulation of cell growth growth factor activity autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 12 TCCAGGACCTCGAGGGTGTCG 0.642000 4 52 0 0 1 0 0 RHOD 29984 broad.mit.edu 37 11 66838947 66838947 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:66838947C>T ENST00000308831.2 + 5 592 c.507C>T c.(505-507)ctC>ctT p.L169L RHOD_ENST00000532559.1_Silent_p.L103L NM_014578.3 NP_055393.1 O00212 RHOD_HUMAN ras homolog family member D 169 regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytosol|plasma membrane GTP binding|GTPase activity lung(3) 3 TGGCCTACCTCGAGTGCTCGG 0.687000 4 26 0 0 1 0 0 MRPL37 51253 broad.mit.edu 37 1 54681872 54681872 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:54681872G>A ENST00000605337.1 + 6 1097 c.1049G>A c.(1048-1050)cGt>cAt p.R350H MRPL37_ENST00000360840.5_Missense_Mutation_p.R350H|MRPL37_ENST00000336230.6_Missense_Mutation_p.R219H Q9BZE1 RM37_HUMAN mitochondrial ribosomal protein L37 350 translation mitochondrial ribosome structural constituent of ribosome NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2) 19 ACGGATGGACGTGTCTTCCAT 0.517000 11 96 0 0 1 0 0 TNNT2 7139 broad.mit.edu 37 1 201333480 201333480 + Silent SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:201333480G>T ENST00000509001.1 - 10 691 c.405C>A c.(403-405)gcC>gcA p.A135A TNNT2_ENST00000367315.2_Silent_p.A135A|TNNT2_ENST00000421663.2_Silent_p.A137A|TNNT2_ENST00000367317.4_Silent_p.A135A|TNNT2_ENST00000367318.5_Silent_p.A135A|TNNT2_ENST00000367320.2_Silent_p.A105A|TNNT2_ENST00000367322.1_Silent_p.A135A|TNNT2_ENST00000360372.4_Silent_p.A130A|TNNT2_ENST00000458432.2_Silent_p.A147A|TNNT2_ENST00000236918.7_Silent_p.A140A NM_001276347.1 NP_001263276.1 P45379 TNNT2_HUMAN troponin T type 2 (cardiac) 145 ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|tropomyosin binding|troponin C binding|troponin I binding breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9) 20 GCTGCTGCTCGGCCCGCTCTG 0.642000 4 27 0.014758 0.0149293 1 1 0 SCAP 22937 broad.mit.edu 37 3 47462227 47462227 + Silent SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:47462227G>T ENST00000265565.5 - 12 1792 c.1380C>A c.(1378-1380)gcC>gcA p.A460A SCAP_ENST00000545718.1_Silent_p.A68A|SCAP_ENST00000465628.1_5'UTR|SCAP_ENST00000441517.2_Silent_p.A205A NM_012235.2 NP_036367.2 Q12770 SCAP_HUMAN SREBF chaperone 460 cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) AGGGCAGGCAGGCCTCAGGGG 0.657000 OREG0015548 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 36 0.000602214 0.000622628 1 1 0 DENND2A 27147 broad.mit.edu 37 7 140301642 140301642 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:140301642A>G ENST00000275884.6 - 2 973 c.556T>C c.(556-558)Tac>Cac p.Y186H DENND2A_ENST00000537639.1_Missense_Mutation_p.Y186H|DENND2A_ENST00000496613.1_Missense_Mutation_p.Y186H|DENND2A_ENST00000492720.1_Missense_Mutation_p.Y186H Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 186 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) TGTGGGGAGTAACAAGTCCCT 0.607000 12 75 0 0 1 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131803638 131803638 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:131803638G>A ENST00000326016.5 + 14 2468 c.1949G>A c.(1948-1950)cGc>cAc p.R650H ARHGEF4_ENST00000525839.1_3'UTR|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.R590H|ARHGEF4_ENST00000392953.3_3'UTR|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.R152H|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.R579H NM_015320.2 NP_056135.2 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor (GEF) 4 650 apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) TACCTGACGCGCCAGAAGCAC 0.667000 11 94 0 0 1 0 0 NPSR1 387129 broad.mit.edu 37 7 34724286 34724286 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:34724286G>A ENST00000360581.1 + 2 398 c.270G>A c.(268-270)ctG>ctA p.L90L NPSR1_ENST00000465305.1_Silent_p.L90L|NPSR1_ENST00000381553.3_Silent_p.L90L|NPSR1_ENST00000359791.1_Silent_p.L90L|NPSR1_ENST00000381539.3_Silent_p.L90L|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381542.1_Silent_p.L90L|NPSR1_ENST00000531252.1_Silent_p.L90L NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 90 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) TGACTCAGCTGGCCATCACAG 0.393000 6 69 0 0 1 0 0 HLA-C 3107 broad.mit.edu 37 6 31238116 31238116 + Nonsense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:31238116C>A ENST00000383329.3 - 4 780 c.766G>T c.(766-768)Gag>Tag p.E256* HLA-C_ENST00000376228.5_Nonsense_Mutation_p.E256* Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 256 Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 GGCCTGGTCTCCACAAGCTCG 0.627000 7 89 0.00198382 0.00203383 1 1 0 DIDO1 11083 broad.mit.edu 37 20 61511065 61511065 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr20:61511065C>G ENST00000266070.4 - 16 6568 c.6243G>C c.(6241-6243)caG>caC p.Q2081H DIDO1_ENST00000395343.1_Missense_Mutation_p.Q2081H NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 2081 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CTTCGAAAGTCTGGTTTCTGT 0.677000 22 224 0 0 1 0 0 MTNR1B 4544 broad.mit.edu 37 11 92715107 92715107 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:92715107C>T ENST00000257068.2 + 2 724 c.718C>T c.(718-720)Ctg>Ttg p.L240L NM_005959.3 NP_005950.1 P49286 MTR1B_HUMAN melatonin receptor 1B 240 G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) AGAGAGCAGGCTGTGCCTGAA 0.577000 10 71 0 0 1 0 0 RDH16 8608 broad.mit.edu 37 12 57348692 57348692 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:57348692G>A ENST00000398138.3 - 2 1426 c.570C>T c.(568-570)ctC>ctT p.L190L RDH16_ENST00000360752.4_Intron NM_003708.3 NP_003699.3 O75452 RDH16_HUMAN retinol dehydrogenase 16 (all-trans) 190 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome binding|electron carrier activity|retinol dehydrogenase activity p.L190L(1) haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9) 16 ACCCATACCTGAGGGAGTCAG 0.567000 6 53 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120977960 120977960 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:120977960G>C ENST00000273666.6 + 18 2174 c.1903G>C c.(1903-1905)Gat>Cat p.D635H STXBP5L_ENST00000472879.1_Missense_Mutation_p.D635H|STXBP5L_ENST00000497029.1_Missense_Mutation_p.D635H|STXBP5L_ENST00000492541.1_Missense_Mutation_p.D635H|STXBP5L_ENST00000471454.1_Missense_Mutation_p.D635H NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 635 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) GGTGTGGGTAGATGGTGAACC 0.348000 4 58 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41075704 41075704 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:41075704G>C ENST00000324545.7 + 35 6517 c.5884G>C c.(5884-5886)Gat>Cat p.D1962H USP9X_ENST00000378308.2_Missense_Mutation_p.D1962H NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 1962 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 AATAGACCAAGATGATGAGTT 0.393000 14 146 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152776698 152776698 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:152776698T>C ENST00000367255.5 - 24 3356 c.2755A>G c.(2755-2757)Aag>Gag p.K919E SYNE1_ENST00000413186.2_Missense_Mutation_p.K919E|SYNE1_ENST00000367253.4_Missense_Mutation_p.K919E|SYNE1_ENST00000265368.4_Missense_Mutation_p.K919E|SYNE1_ENST00000448038.1_Missense_Mutation_p.K926E|SYNE1_ENST00000495090.2_Missense_Mutation_p.K486E|SYNE1_ENST00000341594.5_Missense_Mutation_p.K985E|SYNE1_ENST00000367248.3_Missense_Mutation_p.K909E|SYNE1_ENST00000423061.1_Missense_Mutation_p.K926E NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 919 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ACATGCTTCTTCCAATCTCCA 0.428000 HNSCC(10;0.0054) 8 104 0 0 1 0 0 ESYT2 57488 broad.mit.edu 37 7 158557391 158557391 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:158557391G>C ENST00000251527.5 - 9 1287 c.1222C>G c.(1222-1224)Cca>Gca p.P408A NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 436 C2 1. integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 TTCCACTTTGGACTGAGGTTC 0.512000 13 132 0 0 1 0 0 MAPKAPK2 9261 broad.mit.edu 37 1 206858718 206858718 + Silent SNP C C G rs150764573 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:206858718C>G ENST00000367103.3 + 1 337 c.144C>G c.(142-144)gtC>gtG p.V48V MAPKAPK2_ENST00000294981.4_Silent_p.V48V NM_004759.4|NM_032960.3 NP_004750.1|NP_116584.2 P49137 MAPK2_HUMAN mitogen-activated protein kinase-activated protein kinase 2 48 activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 19 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) AGTTCCACGTCAAGTCCGGCC 0.697000 3 22 0 0 1 0 0 MFN1 55669 broad.mit.edu 37 3 179096140 179096140 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:179096140G>A ENST00000471841.1 + 13 1467 c.1341G>A c.(1339-1341)aaG>aaA p.K447K MFN1_ENST00000263969.5_Silent_p.K447K|MFN1_ENST00000280653.7_Intron NM_033540.2 NP_284941.2 Q8IWA4 MFN1_HUMAN mitofusin 1 447 mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1) 31 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) AATTAAATAAGCACATAGAGG 0.318000 6 59 0 0 1 0 0 GPR37 2861 broad.mit.edu 37 7 124386639 124386639 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:124386639C>T ENST00000303921.2 - 2 2432 c.1782G>A c.(1780-1782)tcG>tcA p.S594S NM_005302.2 NP_005293.1 O15354 GPR37_HUMAN G protein-coupled receptor 37 (endothelin receptor type B-like) 594 endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TACTGAAAGGCGAGAGTTCGA 0.463000 16 121 0 0 1 0 0 RTKN 6242 broad.mit.edu 37 2 74653396 74653396 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:74653396G>A ENST00000305557.5 - 13 2212 c.1627C>T c.(1627-1629)Cgc>Tgc p.R543C RTKN_ENST00000272430.5_Missense_Mutation_p.R556C|RTKN_ENST00000233330.6_Missense_Mutation_p.R506C NM_033046.2 NP_149035.1 Q9BST9 RTKN_HUMAN rhotekin 556 Pro-rich. apoptosis|regulation of anti-apoptosis|Rho protein signal transduction intracellular GTP binding|GTP-Rho binding|GTPase inhibitor activity endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 16 AGCCAAGTGCGAGGTTGGCCT 0.622000 13 176 0 0 1 0 0 ZMYM3 9203 broad.mit.edu 37 X 70472945 70472945 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:70472945G>A ENST00000373998.1 - 2 858 c.161C>T c.(160-162)tCg>tTg p.S54L ZMYM3_ENST00000373988.1_Missense_Mutation_p.S54L|ZMYM3_ENST00000353904.2_Missense_Mutation_p.S54L|ZMYM3_ENST00000373978.1_Missense_Mutation_p.S54L|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373981.1_Missense_Mutation_p.S54L|ZMYM3_ENST00000373984.3_Missense_Mutation_p.S54L|ZMYM3_ENST00000314425.5_Missense_Mutation_p.S54L|ZMYM3_ENST00000373982.1_Missense_Mutation_p.S54L NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 54 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) CAGGGCTCCCGAGGATGGAGA 0.607000 OREG0019858 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 24 0 0 1 0 0 EEFSEC 60678 broad.mit.edu 37 3 128060436 128060436 + Missense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:128060436G>T ENST00000254730.6 + 5 1201 c.1147G>T c.(1147-1149)Gat>Tat p.D383Y EEFSEC_ENST00000483457.1_Missense_Mutation_p.D328Y|EEFSEC_ENST00000483569.1_3'UTR NM_021937.3 NP_068756.2 P57772 SELB_HUMAN eukaryotic elongation factor, selenocysteine-tRNA-specific 383 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1) 25 CCTGTCCAAGGATTTGACACC 0.532000 4 53 0.000602214 0.000622628 1 1 0 ZNF217 7764 broad.mit.edu 37 20 52188284 52188284 + Nonstop_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr20:52188284C>G ENST00000371471.2 - 5 3571 c.3146G>C c.(3145-3147)tGa>tCa p.*1049S ZNF217_ENST00000302342.3_Nonstop_Mutation_p.*1049S|RP4-724E16.2_ENST00000424252.1_RNA O75362 ZN217_HUMAN zinc finger protein 217 0 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) ATTAGTGAATCAAGTTTTTTT 0.413000 7 62 0 0 1 0 0 ZSCAN2 54993 broad.mit.edu 37 15 85149785 85149785 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:85149785G>A ENST00000334141.3 + 3 658 c.432G>A c.(430-432)ccG>ccA p.P144P ZSCAN2_ENST00000546148.1_Intron|ZSCAN2_ENST00000379358.3_Intron|ZSCAN2_ENST00000327179.6_Intron|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000358472.3_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000448803.2_Intron NM_017894.5 NP_060364.4 Q7Z7L9 ZSCA2_HUMAN zinc finger and SCAN domain containing 2 0 cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1) 19 UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22) CTTCCCTTCCGGTGGAGGTGA 0.438000 6 61 0 0 1 0 0 TOP3A 7156 broad.mit.edu 37 17 18198093 18198093 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:18198093C>G ENST00000321105.5 - 10 1211 c.997G>C c.(997-999)Gag>Cag p.E333Q TOP3A_ENST00000542570.1_Missense_Mutation_p.E238Q|TOP3A_ENST00000540524.1_5'UTR NM_004618.3 NP_004609.1 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 333 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1) 36 GCCAGCTTCTCAAGCTCCTGT 0.448000 4 38 0 0 1 0 0 SQRDL 58472 broad.mit.edu 37 15 45981265 45981265 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:45981265T>C ENST00000260324.7 + 9 1531 c.1145T>C c.(1144-1146)gTg>gCg p.V382A SQRDL_ENST00000568606.1_Missense_Mutation_p.V382A NM_021199.2 NP_067022.1 Q9Y6N5 SQRD_HUMAN sulfide quinone reductase-like (yeast) 382 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 11 Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417) all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188) TGTCCACTGGTGACCGGCTAC 0.393000 16 138 0 0 1 0 0 LARP1B 55132 broad.mit.edu 37 4 129043274 129043274 + Silent SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:129043274T>C ENST00000326639.6 + 11 1666 c.1455T>C c.(1453-1455)aaT>aaC p.N485N LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000427266.1_Silent_p.N485N|LARP1B_ENST00000441387.1_Silent_p.N485N|LARP1B_ENST00000264584.5_Silent_p.N438N|LARP1B_ENST00000512292.1_Silent_p.N485N NM_018078.2 NP_060548.2 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family, member 1B 485 RNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 AAGTTATCAATGATGGCTTAT 0.403000 18 117 0 0 1 0 0 ABCA11P 79963 broad.mit.edu 37 4 419693 419693 + RNA SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:419693G>C ENST00000451020.2 - 0 1345 NR_002451.2 CCTCCAGGTTGAAGGTCTGTT 0.438000 5 33 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42017296 42017296 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:42017296G>C ENST00000395925.3 - 12 1757 c.1673C>G c.(1672-1674)tCg>tGg p.S558W GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 558 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 TTCTAGTCTCGAGTAGGCCTT 0.458000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly OREG0018015 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 84 0 0 1 0 0 ATP7B 540 broad.mit.edu 37 13 52518381 52518381 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr13:52518381A>G ENST00000242839.4 - 14 3263 c.3107T>C c.(3106-3108)gTc>gCc p.V1036A ATP7B_ENST00000417240.2_Intron|ATP7B_ENST00000400366.3_Missense_Mutation_p.V925A|ATP7B_ENST00000418097.2_Missense_Mutation_p.V971A|ATP7B_ENST00000344297.5_Missense_Mutation_p.V829A|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Missense_Mutation_p.V958A|ATP7B_ENST00000400370.3_Missense_Mutation_p.V606A NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 1036 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) GACCCTGGGGACGCCATGGGT 0.567000 Wilson disease 6 43 0 0 1 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37186555 37186555 + RNA SNP C C T rs9893920 by1000genomes TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:37186555C>T ENST00000425901.2 + 0 397 NR_033753.2 GAACCTTCTCCAGTCCAGCAA 0.587000 4 42 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55566511 55566511 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr10:55566511G>A ENST00000373965.2 - 36 5277 c.4883C>T c.(4882-4884)gCg>gTg p.A1628V PCDH15_ENST00000414778.1_Missense_Mutation_p.A1625V NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TGGCTTCACCGCTGTATTGTC 0.448000 HNSCC(58;0.16) 18 255 0 0 1 0 0 PRIMA1 145270 broad.mit.edu 37 14 94187823 94187823 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:94187823G>A ENST00000393140.1 - 5 531 c.429C>T c.(427-429)aaC>aaT p.N143N PRIMA1_ENST00000316227.3_3'UTR|PRIMA1_ENST00000393143.1_Silent_p.N143N NM_178013.3 NP_821092.1 Q86XR5 PRIMA_HUMAN proline rich membrane anchor 1 143 neurotransmitter catabolic process cell junction|integral to membrane|synapse endometrium(1)|large_intestine(2)|lung(3)|skin(1) 7 all_cancers(154;0.127) Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229) CTACTCCTTTGTTGCTCTGCG 0.572000 4 42 0 0 1 0 0 TAGAP 117289 broad.mit.edu 37 6 159462434 159462434 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:159462434C>T ENST00000367066.3 - 6 760 c.429G>A c.(427-429)gcG>gcA p.A143A RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_5'UTR|TAGAP_ENST00000338313.5_Silent_p.A143A|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA NM_054114.3 NP_473455.2 Q8N103 TAGAP_HUMAN T-cell activation RhoGTPase activating protein 143 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CCAGATCCACCGCATCCCCAG 0.552000 13 77 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155744857 155744857 + Silent SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:155744857C>A ENST00000437809.1 - 17 2408 c.2286G>T c.(2284-2286)ctG>ctT p.L762L GON4L_ENST00000368331.1_Silent_p.L762L|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Silent_p.L762L|GON4L_ENST00000271883.5_Silent_p.L762L Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 762 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) AGTCTTCAATCAGCTGCATAG 0.463000 5 57 0.0215528 0.0217669 1 1 0 MGAT4C 25834 broad.mit.edu 37 12 86373610 86373610 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:86373610C>G ENST00000604798.1 - 8 2098 c.894G>C c.(892-894)caG>caC p.Q298H MGAT4C_ENST00000552808.2_Missense_Mutation_p.Q298H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.Q298H|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000549405.2_Missense_Mutation_p.Q298H|MGAT4C_ENST00000548651.1_Missense_Mutation_p.Q298H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.Q327H Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 298 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 TCACATTTTTCTGAGCCAACA 0.383000 11 95 0 0 1 0 0 CUL3 8452 broad.mit.edu 37 2 225365164 225365164 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:225365164G>A ENST00000264414.4 - 11 1864 c.1526C>T c.(1525-1527)aCg>aTg p.T509M CUL3_ENST00000344951.4_Missense_Mutation_p.T443M|CUL3_ENST00000409777.1_Missense_Mutation_p.T485M|CUL3_ENST00000409096.1_Missense_Mutation_p.T485M NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 509 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) ATATCCTGTCGTGAGCACCCG 0.423000 8 108 0 0 1 0 0 HCRTR1 3061 broad.mit.edu 37 1 32085276 32085276 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:32085276G>A ENST00000403528.2 + 4 728 c.343G>A c.(343-345)Ggc>Agc p.G115S HCRTR1_ENST00000468521.1_Intron|HCRTR1_ENST00000373705.1_Missense_Mutation_p.G115S|HCRTR1_ENST00000373706.5_Missense_Mutation_p.G115S NM_001525.2 NP_001516.2 O43613 OX1R_HUMAN hypocretin (orexin) receptor 1 115 feeding behavior|neuropeptide signaling pathway|synaptic transmission integral to plasma membrane breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 7 Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.053) CTGGCTGTTCGGCCATGCCCT 0.582000 3 23 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32639270 32639270 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr21:32639270G>C ENST00000286827.3 - 5 490 c.19C>G c.(19-21)Caa>Gaa p.Q7E TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.Q7E NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 7 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 TCTACATGTTGACTTTCTGCG 0.527000 8 50 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215960129 215960129 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:215960129T>C ENST00000366943.2 - 52 10656 c.10270A>G c.(10270-10272)Att>Gtt p.I3424V USH2A_ENST00000307340.3_Missense_Mutation_p.I3424V O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3424 Fibronectin type-III 19. 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) ACAGTGCAAATGTGGCTGGTA 0.463000 HNSCC(13;0.011) 6 59 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138615205 138615205 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:138615205G>A ENST00000251691.4 + 20 3610 c.3444G>A c.(3442-3444)tcG>tcA p.S1148S NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 1148 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity p.S1077S(1) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) AGAAAGCATCGCAGTCTCAGC 0.433000 7 68 0 0 1 0 0 CYBB 1536 broad.mit.edu 37 X 37655262 37655262 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:37655262T>C ENST00000378588.4 + 6 609 c.542T>C c.(541-543)gTc>gCc p.V181A CYBB_ENST00000545017.1_Missense_Mutation_p.V149A|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Intron NM_000397.3 NP_000388.2 P04839 CY24B_HUMAN cytochrome b-245, beta polypeptide 181 Ferric oxidoreductase. electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2) 32 ACTGGAGTTGTCATCACGCTG 0.458000 7 95 0 0 1 0 0 NCOA1 8648 broad.mit.edu 37 2 24952396 24952396 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:24952396G>C ENST00000405141.1 + 18 3624 c.2913G>C c.(2911-2913)gaG>gaC p.E971D NCOA1_ENST00000407230.1_Missense_Mutation_p.E820D|NCOA1_ENST00000288599.5_Missense_Mutation_p.E971D|NCOA1_ENST00000348332.3_Missense_Mutation_p.E971D|NCOA1_ENST00000406961.1_Missense_Mutation_p.E971D|NCOA1_ENST00000538539.1_Missense_Mutation_p.E971D|NCOA1_ENST00000395856.3_Missense_Mutation_p.E971D Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 971 Interaction with CREBBP. PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TATTATCAGAGAGATTTCCAC 0.403000 T PAX3 alveolar rhadomyosarcoma 13 109 0 0 1 0 0 ABLIM2 84448 broad.mit.edu 37 4 8021986 8021986 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:8021986C>G ENST00000296372.8 - 12 1355 c.1213G>C c.(1213-1215)Gac>Cac p.D405H ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000428004.2_Intron|ABLIM2_ENST00000514025.1_Intron|ABLIM2_ENST00000447017.2_Missense_Mutation_p.D438H|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000318888.4_Intron|ABLIM2_ENST00000545242.1_Missense_Mutation_p.D405H|ABLIM2_ENST00000515079.1_5'UTR|ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000341937.5_Missense_Mutation_p.D405H|ABLIM2_ENST00000361581.5_Missense_Mutation_p.D405H|ABLIM2_ENST00000407564.3_Intron Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 405 axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 GGCTTGCTGTCAGAGAGCACG 0.622000 5 36 0 0 1 0 0 ZNF618 114991 broad.mit.edu 37 9 116811382 116811382 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:116811382G>C ENST00000288466.7 + 14 1620 c.1521G>C c.(1519-1521)caG>caC p.Q507H ZNF618_ENST00000374126.5_Missense_Mutation_p.Q600H|ZNF618_ENST00000470105.1_3'UTR NM_133374.2 NP_588615.2 Q5T7W0 ZN618_HUMAN zinc finger protein 618 600 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 ACTGGGTGCAGAACGTGCTGT 0.602000 9 64 0 0 1 0 0 CMA1 1215 broad.mit.edu 37 14 24975727 24975727 + Missense_Mutation SNP C C T rs13306252 by1000genomes TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:24975727C>T ENST00000250378.3 - 3 322 c.293G>A c.(292-294)cGt>cAt p.R98H CMA1_ENST00000206446.4_5'UTR|RP11-80A15.1_ENST00000555109.1_Intron NM_001836.3 NP_001827.1 P23946 CMA1_HUMAN chymase 1, mast cell 98 Peptidase S1. R -> H (in dbSNP:rs13306252). interleukin-1 beta biosynthetic process|proteolysis extracellular region serine-type endopeptidase activity kidney(1)|lung(8)|pancreas(1)|prostate(1) 11 GBM - Glioblastoma multiforme(265;0.0271) TTTTGGATGACGGAATTGCTT 0.423000 12 134 0 0 1 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156914199 156914199 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:156914199C>T ENST00000368194.3 - 31 4057 c.3018G>A c.(3016-3018)atG>atA p.M1006I ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.M382I|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.M966I NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 966 PH. actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCTCATGGATCATTTTTCTGG 0.493000 5 59 0 0 1 0 0 PHOSPHO2 493911 broad.mit.edu 37 2 170558169 170558169 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:170558169G>C ENST00000359744.3 + 4 1076 c.688G>C c.(688-690)Gat>Cat p.D230H KLHL23_ENST00000272797.4_Intron|KLHL23_ENST00000602521.1_Intron NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1 NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1 Q8TCD6 PHOP2_HUMAN phosphatase, orphan 2 230 metal ion binding|pyridoxal phosphatase activity breast(1)|large_intestine(1)|lung(6)|skin(2) 10 CTCAGGTGTTGATATAATTTC 0.338000 9 58 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27539953 27539953 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:27539953G>A ENST00000356183.4 - 6 954 c.939C>T c.(937-939)atC>atT p.I313I GTF3C1_ENST00000561623.1_Silent_p.I313I NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 313 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 ATTCAGGGTGGATCTCTTGCA 0.507000 15 126 0 0 1 0 0 BTBD1 53339 broad.mit.edu 37 15 83698895 83698895 + Nonsense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:83698895G>A ENST00000261721.4 - 5 1250 c.1048C>T c.(1048-1050)Cga>Tga p.R350* RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000560015.1_5'UTR|BTBD1_ENST00000379403.2_Nonsense_Mutation_p.R350*|RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA NM_001011885.1|NM_025238.3 NP_001011885.1|NP_079514.1 Q9H0C5 BTBD1_HUMAN BTB (POZ) domain containing 1 350 cytoplasmic mRNA processing body|protein complex protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 10 all cancers(203;0.000186) TACCTGATTCGATCACTCGTC 0.448000 40 380 0 0 1 0 0 CHAMP1 283489 broad.mit.edu 37 13 115089332 115089332 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr13:115089332G>A ENST00000361283.1 + 3 324 c.15G>A c.(13-15)caG>caA p.Q5Q NM_001164144.1|NM_001164145.1|NM_032436.2 NP_001157616.1|NP_001157617.1|NP_115812.1 Q96JM3 ZN828_HUMAN chromosome alignment maintaining phosphoprotein 1 5 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding AAGCATTCCAGGAACTTCGTA 0.378000 12 113 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38427202 38427202 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:38427202C>T ENST00000322350.5 + 14 2248 c.1902C>T c.(1900-1902)ttC>ttT p.F634F EGFLAM_ENST00000336740.6_Silent_p.F400F|EGFLAM_ENST00000354891.3_Silent_p.F634F|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000397202.2_5'UTR NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 634 Laminin G-like 2. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) ACCTTTCCTTCATGGAATTTG 0.493000 18 140 0 0 1 0 0 ZHX1 11244 broad.mit.edu 37 8 124266008 124266008 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:124266008G>C ENST00000395571.3 - 3 2796 c.2179C>G c.(2179-2181)Cag>Gag p.Q727E ZHX1_ENST00000297857.2_Missense_Mutation_p.Q727E|ZHX1_ENST00000522655.1_Missense_Mutation_p.Q727E|ZHX1-C8ORF76_ENST00000357082.4_Intron NM_001017926.2|NM_007222.4 NP_001017926.1|NP_009153.3 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 727 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) TTGGCGCTCTGATAGTAGTAG 0.502000 10 91 0 0 1 0 0 TSHR 7253 broad.mit.edu 37 14 81610460 81610460 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:81610460G>A ENST00000541158.2 + 11 2380 c.2058G>A c.(2056-2058)caG>caA p.Q686Q TSHR_ENST00000298171.2_Silent_p.Q686Q|RP11-114N19.3_ENST00000557775.1_RNA P16473 TSHR_HUMAN thyroid stimulating hormone receptor 686 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity p.Q686H(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) AGGCCTTCCAGAGGGATGTGT 0.478000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 19 145 0 0 1 0 0 ZBTB45 84878 broad.mit.edu 37 19 59028991 59028991 + Missense_Mutation SNP C C T rs117819245 by1000genomes TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:59028991C>T ENST00000594051.1 - 2 530 c.50G>A c.(49-51)cGc>cAc p.R17H ZBTB45_ENST00000600990.1_Missense_Mutation_p.R17H|ZBTB45_ENST00000354590.3_Missense_Mutation_p.R17H Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 17 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|urinary_tract(1) 11 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) AAGCAGAGAGCGTGAGAAGTT 0.592000 OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 54 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028001 37028001 + Silent SNP C C T rs149060980 by1000genomes TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:37028001C>T ENST00000358047.3 + 1 1570 c.1518C>T c.(1516-1518)cgC>cgT p.R506R NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 506 p.R506R(2) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CCAAGACACGCGTATCTCATC 0.617000 13 154 0 0 1 0 0 OR52R1 119695 broad.mit.edu 37 11 4825751 4825751 + Missense_Mutation SNP G G C rs112773148 byFrequency TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:4825751G>C ENST00000380382.1 - 1 96 c.97C>G c.(97-99)Cta>Gta p.L33V MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TTATAAACTAGAATAATTTCA 0.303000 6 72 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56569758 56569758 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:56569758C>G ENST00000390649.3 + 14 3452 c.3452C>G c.(3451-3453)tCt>tGt p.S1151C NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 1151 mitochondrion|nucleolus ATP binding p.S1151C(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TGTCCCACGTCTAACTTACAG 0.483000 4 29 0 0 1 0 0 UGGT1 56886 broad.mit.edu 37 2 128935448 128935448 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:128935448G>C ENST00000375990.3 + 33 3998 c.3595G>C c.(3595-3597)Gat>Cat p.D1199H UGGT1_ENST00000259253.6_Missense_Mutation_p.D1223H Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 1223 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 CTTGCTGAGTGATGGAACGAG 0.388000 9 131 0 0 1 0 0 BRWD3 254065 broad.mit.edu 37 X 79999689 79999689 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:79999689G>A ENST00000373275.4 - 8 871 c.655C>T c.(655-657)Cgt>Tgt p.R219C NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 219 p.R219C(1) breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 GAGTGTCCACGAAGTGTAGCA 0.403000 10 138 0 0 1 0 0 ZNF74 7625 broad.mit.edu 37 22 20761221 20761221 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr22:20761221G>A ENST00000400451.2 + 5 2412 c.1898G>A c.(1897-1899)gGc>gAc p.G633D ZNF74_ENST00000356671.5_Missense_Mutation_p.G633D|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.G601D NM_003426.3 NP_003417.2 Q16587 ZNF74_HUMAN zinc finger protein 74 633 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) CCCAGAGCTGGCAGGAATTTC 0.572000 7 34 0 0 1 0 0 ZNF710 374655 broad.mit.edu 37 15 90611533 90611533 + Silent SNP C C T rs144375764 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:90611533C>T ENST00000268154.4 + 2 1415 c.1164C>T c.(1162-1164)ttC>ttT p.F388F NM_198526.2 NP_940928.2 Q8N1W2 ZN710_HUMAN zinc finger protein 710 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 19 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129) GCCGCGGCTTCGCCTACCCCA 0.642000 5 69 0 0 1 0 0 CDCA7L 55536 broad.mit.edu 37 7 21946011 21946011 + Missense_Mutation SNP G G A rs139249411 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:21946011G>A ENST00000406877.3 - 6 1096 c.817C>T c.(817-819)Cgg>Tgg p.R273W CDCA7L_ENST00000373934.4_Missense_Mutation_p.R227W|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Missense_Mutation_p.R239W NM_018719.4 NP_061189.2 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like 273 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 29 CGCGCACTCCGGGTTGGGTTC 0.527000 12 164 0 0 1 0 0 DAZAP2 9802 broad.mit.edu 37 12 51634709 51634709 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:51634709G>A ENST00000412716.3 + 3 803 c.187G>A c.(187-189)Gcc>Acc p.A63T DAZAP2_ENST00000425012.2_Missense_Mutation_p.A63T|DAZAP2_ENST00000604900.1_Missense_Mutation_p.A63T|DAZAP2_ENST00000551313.1_Missense_Mutation_p.A3T|DAZAP2_ENST00000449723.3_Missense_Mutation_p.A63T|DAZAP2_ENST00000549732.2_Intron|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000439799.2_Intron|DAZAP2_ENST00000549555.1_Missense_Mutation_p.A63T Q15038 DAZP2_HUMAN DAZ associated protein 2 63 Pro-rich. WW domain binding haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1) 6 CACCATGTCAGCCGCATTTCC 0.532000 5 92 0 0 1 0 0 TRMT1L 81627 broad.mit.edu 37 1 185108526 185108526 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:185108526G>A ENST00000367504.3 - 9 1566 c.827C>T c.(826-828)gCc>gTc p.A276V TRMT1L_ENST00000367506.5_Missense_Mutation_p.A432V Q7Z2T5 TRM1L_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae)-like 432 intracellular RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 21 AACAATTCTGGCTGCTAGTTC 0.398000 3 29 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80136879 80136879 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:80136879G>A ENST00000466387.1 + 11 1736 c.1012G>A c.(1012-1014)Gtg>Atg p.V338M CTNNA2_ENST00000402739.4_Missense_Mutation_p.V338M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V372M|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V338M P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 338 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton p.V338M(2) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 GTGCAACGCCGTGCGGCAGGC 0.597000 6 59 0 0 1 0 0 CCR2 729230 broad.mit.edu 37 3 46400039 46400039 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:46400039G>C ENST00000445132.2 + 2 1516 c.1021G>C c.(1021-1023)Gat>Cat p.D341H CCR2_ENST00000292301.4_Intron|CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000400888.2_Intron NM_001123396.1 NP_001116868.1 P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 0 astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) GGAGACAGTGGATGGAGTGAC 0.473000 4 32 0 0 1 0 0 MRM1 79922 broad.mit.edu 37 17 34964340 34964340 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:34964340G>A ENST00000250156.7 + 4 1014 c.775G>A c.(775-777)Gag>Aag p.E259K MRM1_ENST00000585770.1_Missense_Mutation_p.E64K NM_024864.3 NP_079140.2 Q6IN84 MRM1_HUMAN mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) 259 RNA processing mitochondrion RNA binding|RNA methyltransferase activity NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) TGCAGGGAATGAGGGCTCAGG 0.617000 8 68 0 0 1 0 0 CTU2 348180 broad.mit.edu 37 16 88778042 88778042 + Splice_Site SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:88778042G>T ENST00000567949.1 + 5 291 c.e5-1 CTU2_ENST00000312060.5_Splice_Site|CTU2_ENST00000453996.2_Splice_Site|CTU2_ENST00000378384.3_Splice_Site Q2VPK5 CTU2_HUMAN cytosolic thiouridylase subunit 2 homolog (S. pombe) tRNA thio-modification|tRNA wobble uridine modification cytoplasm|protein complex|soluble fraction protein binding NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 TCTCCCTCTAGGGCCTGAGCC 0.527000 5 59 0.000602214 0.000622628 1 1 0 TAS2R46 259292 broad.mit.edu 37 12 11214216 11214216 + Missense_Mutation SNP T T G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:11214216T>G ENST00000533467.1 - 1 677 c.678A>C c.(676-678)aaA>aaC p.K226N PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176887.2 NP_795368.2 P59540 T2R46_HUMAN taste receptor, type 2, member 46 226 sensory perception of taste cilium membrane|integral to membrane G-protein coupled receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) TTTGCAAAGCTTTTATGTGGA 0.403000 26 229 0 0 1 0 0 SOWAHB 345079 broad.mit.edu 37 4 77817771 77817771 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:77817771C>A ENST00000334306.2 - 1 1231 c.1232G>T c.(1231-1233)gGg>gTg p.G411V NM_001029870.1 NP_001025041.1 A6NEL2 ANR56_HUMAN sosondowah ankyrin repeat domain family member B 411 GTCTTTGGGCCCACTGCTGCT 0.567000 14 104 7.93312e-07 8.61068e-07 1 1 0 CTAGE5 4253 broad.mit.edu 37 14 39782616 39782616 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:39782616C>A ENST00000553728.1 + 18 3084 c.2871C>A c.(2869-2871)agC>agA p.S957R CTAGE5_ENST00000341502.5_Missense_Mutation_p.S422R|CTAGE5_ENST00000553352.1_Missense_Mutation_p.S393R|CTAGE5_ENST00000396158.2_Missense_Mutation_p.S427R|CTAGE5_ENST00000280083.3_Missense_Mutation_p.S422R|CTAGE5_ENST00000341749.3_Missense_Mutation_p.S410R|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.S393R|CTAGE5_ENST00000348007.3_Missense_Mutation_p.S422R|CTAGE5_ENST00000557038.1_Missense_Mutation_p.S342R|CTAGE5_ENST00000556148.1_Missense_Mutation_p.S347R|CTAGE5_ENST00000396165.4_Missense_Mutation_p.S393R AAAAGATCAGCCATGCCACTG 0.308000 6 72 1.12685e-05 1.21017e-05 1 1 0 EIF2B3 8891 broad.mit.edu 37 1 45341334 45341334 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:45341334C>G ENST00000360403.2 - 9 1135 c.1009G>C c.(1009-1011)Gaa>Caa p.E337Q EIF2B3_ENST00000372183.3_Missense_Mutation_p.E337Q NM_001261418.1|NM_020365.4 NP_001248347.1|NP_065098.1 Q9NR50 EI2BG_HUMAN eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa 337 negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex nucleotidyltransferase activity|protein binding|translation initiation factor activity endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 17 Acute lymphoblastic leukemia(166;0.155) ACTGGTGGTTCTTCTGGACAG 0.507000 6 65 0 0 1 0 0 DENND6A 201627 broad.mit.edu 37 3 57613942 57613942 + Nonstop_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:57613942C>G ENST00000311128.5 - 20 1896 c.1826G>C c.(1825-1827)tGa>tCa p.*609S NM_152678.2 NP_689891.1 DENN/MADD domain containing 6A TGGCAAATATCATGTCATGCC 0.438000 10 99 0 0 1 0 0 RBM4 5936 broad.mit.edu 37 11 66411036 66411036 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:66411036G>A ENST00000409406.1 + 2 1305 c.528G>A c.(526-528)ccG>ccA p.P176P RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000396053.4_Intron|RBM14-RBM4_ENST00000412278.2_Silent_p.P151P|RBM4_ENST00000310092.7_Silent_p.P176P|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000408993.2_Silent_p.P176P|RBM4_ENST00000503028.2_Silent_p.P176P|RBM4_ENST00000514361.3_Silent_p.P151P|RBM4_ENST00000578778.1_Intron RNA binding motif protein 4 endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266) AAGAGTGTCCGATAGATCGTT 0.572000 5 66 0 0 1 0 0 CEACAM1 634 broad.mit.edu 37 19 43025447 43025447 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:43025447C>G ENST00000161559.6 - 4 1064 c.930G>C c.(928-930)agG>agC p.R310S CEACAM1_ENST00000403461.1_Missense_Mutation_p.R310S|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403444.3_Missense_Mutation_p.R310S|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000358394.3_Missense_Mutation_p.R310S|CEACAM1_ENST00000308072.4_Missense_Mutation_p.R270S|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000599389.1_Missense_Mutation_p.R310S|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000352591.5_Missense_Mutation_p.R310S NM_001712.4 NP_001703.2 P13688 CEAM1_HUMAN carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) 310 Ig-like C2-type 2. angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway extracellular region|integral to plasma membrane|membrane fraction breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 17 Prostate(69;0.00682) GBM - Glioblastoma multiforme(486;0.00148) Arcitumomab(DB00113) TGACTGTGGTCCTGTTGCAGC 0.448000 12 227 0 0 1 0 0 KCNJ10 3766 broad.mit.edu 37 1 160012273 160012273 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:160012273C>T ENST00000368089.3 - 2 276 c.50G>A c.(49-51)aGc>aAc p.S17N NM_002241.4 NP_002232.2 P78508 IRK10_HUMAN potassium inwardly-rectifying channel, subfamily J, member 10 17 integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TAGGGGCCGGCTTTCTGTCTG 0.537000 6 58 0 0 1 0 0 OR4D11 219986 broad.mit.edu 37 11 59271520 59271520 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:59271520G>A ENST00000313253.1 + 1 472 c.472G>A c.(472-474)Gtg>Atg p.V158M NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 CCACTCCATCGTGCAGATCTC 0.547000 15 151 0 0 1 0 0 E4F1 1877 broad.mit.edu 37 16 2283182 2283182 + Nonsense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:2283182G>T ENST00000301727.4 + 7 1102 c.1054G>T c.(1054-1056)Gag>Tag p.E352* E4F1_ENST00000565090.1_Nonsense_Mutation_p.E352*|E4F1_ENST00000564139.1_Nonsense_Mutation_p.E352* NM_004424.3 NP_004415.2 Q66K89 E4F1_HUMAN E4F transcription factor 1 352 cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 CCTGGCCCCAGAGGTGGGGGC 0.652000 10 90 0.000673444 0.000695095 1 1 0 C17orf67 339210 broad.mit.edu 37 17 54893318 54893318 + Translation_Start_Site SNP G G A rs117984213 by1000genomes TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:54893318G>A ENST00000397861.2 - 0 1133 C17orf67_ENST00000575658.1_De_novo_Start_OutOfFrame Q0P5P2 CQ067_HUMAN chromosome 17 open reading frame 67 extracellular region NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2) 7 Breast(9;2.49e-06) GACTCTGAGCGTTTTAGTAAT 0.423000 3 31 0 0 1 0 0 ZNF214 7761 broad.mit.edu 37 11 7021140 7021140 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:7021140C>G ENST00000278314.4 - 3 2089 c.1774G>C c.(1774-1776)Gat>Cat p.D592H ZNF214_ENST00000536068.1_Missense_Mutation_p.D592H NM_013249.2 NP_037381.2 Q9UL59 ZN214_HUMAN zinc finger protein 214 592 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) GAATTATGATCAAATCCCTTA 0.333000 9 56 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73738804 73738804 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:73738804G>A ENST00000200181.3 + 25 3111 c.2924G>A c.(2923-2925)gGc>gAc p.G975D ITGB4_ENST00000579662.1_Missense_Mutation_p.G975D|ITGB4_ENST00000339591.3_Missense_Mutation_p.G975D|ITGB4_ENST00000450894.3_Missense_Mutation_p.G975D|ITGB4_ENST00000449880.2_Missense_Mutation_p.G975D NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 975 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GCCACCCTCGGCCGCCGCCTG 0.657000 3 33 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117758580 117758580 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:117758580C>G ENST00000276204.6 + 32 3624 c.3550C>G c.(3550-3552)Cga>Gga p.R1184G DOCK11_ENST00000276202.7_Missense_Mutation_p.R1184G Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1184 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 ATTAGCAGGTCGAGATACCTT 0.358000 20 194 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 38016216 38016216 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:38016216G>A ENST00000261439.4 + 3 859 c.504G>A c.(502-504)acG>acA p.T168T TBC1D1_ENST00000508802.1_Silent_p.T168T NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 168 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 TCGACGACACGTTTTCCAAGA 0.617000 11 125 0 0 1 0 0 PCDH1 5097 broad.mit.edu 37 5 141233932 141233932 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:141233932G>C ENST00000287008.3 - 5 3536 c.3389C>G c.(3388-3390)tCt>tGt p.S1130C PCDH1_ENST00000503492.1_3'UTR NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 0 cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) GCATGTGTCAGAGTGGCCAAA 0.607000 3 25 0 0 1 0 0 SLC17A4 10050 broad.mit.edu 37 6 25762243 25762243 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:25762243G>A ENST00000377905.4 + 2 172 c.53G>A c.(52-54)gGc>gAc p.G18D SLC17A4_ENST00000397076.2_5'UTR|SLC17A4_ENST00000439485.2_Missense_Mutation_p.G18D NM_005495.2 NP_005486.1 Q9Y2C5 S17A4_HUMAN solute carrier family 17, member 4 18 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity p.G18D(1) breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TCCAGTGATGGCAATTTAAAC 0.418000 3 28 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108384641 108384641 + Missense_Mutation SNP T T A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:108384641T>A ENST00000265843.4 - 6 1703 c.1593A>T c.(1591-1593)gaA>gaT p.E531D EXPH5_ENST00000428840.1_Missense_Mutation_p.E455D|EXPH5_ENST00000443411.1_Missense_Mutation_p.E343D|EXPH5_ENST00000525344.1_Missense_Mutation_p.E524D|EXPH5_ENST00000524840.1_5'UTR NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 531 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) AAGAAAATGATTCCCAGTGTT 0.413000 11 84 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6983142 6983142 + Nonsense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr18:6983142C>A ENST00000389658.3 - 40 5845 c.5752G>T c.(5752-5754)Gaa>Taa p.E1918* NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1918 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGGCCAGTTCCTCCGATTCT 0.498000 7 65 0.000274275 0.000288462 1 1 0 DIAPH3 81624 broad.mit.edu 37 13 60686226 60686226 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr13:60686226G>A ENST00000400324.4 - 3 528 c.308C>T c.(307-309)tCa>tTa p.S103L DIAPH3_ENST00000400320.1_Missense_Mutation_p.S92L|DIAPH3_ENST00000267215.4_Missense_Mutation_p.S103L|DIAPH3_ENST00000400319.1_Intron|DIAPH3_ENST00000400330.1_Missense_Mutation_p.S103L|DIAPH3_ENST00000377908.2_Missense_Mutation_p.S92L NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 103 actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) AGGTGCTGCTGAGCAATCACT 0.408000 15 175 0 0 1 0 0 C7orf31 136895 broad.mit.edu 37 7 25176366 25176366 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:25176366C>T ENST00000409280.1 - 10 1306 c.998G>A c.(997-999)gGa>gAa p.G333E C7orf31_ENST00000283905.3_Missense_Mutation_p.G333E Q8N865 CG031_HUMAN chromosome 7 open reading frame 31 333 autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 14 GGCAATTCGTCCTTCCAACGG 0.433000 11 162 0 0 1 0 0 ZNF266 10781 broad.mit.edu 37 19 9524481 9524481 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:9524481G>C ENST00000592904.1 - 5 3196 c.1120C>G c.(1120-1122)Cac>Gac p.H374D ZNF266_ENST00000361451.2_Missense_Mutation_p.H374D|ZNF266_ENST00000588933.1_Missense_Mutation_p.H374D|ZNF266_ENST00000592292.1_Missense_Mutation_p.H374D|ZNF266_ENST00000361151.1_Missense_Mutation_p.H374D|ZNF266_ENST00000590306.1_Missense_Mutation_p.H374D|ZNF266_ENST00000588221.1_Missense_Mutation_p.H374D Q14584 ZN266_HUMAN zinc finger protein 266 374 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1) 28 TCTCCACTGTGAGTTCGTGCA 0.448000 10 103 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168100981 168100981 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:168100981G>A ENST00000409195.1 + 9 3168 c.3079G>A c.(3079-3081)Gac>Aac p.D1027N XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D805N|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1027N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 852 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAGGCCCATTGACCAGTTTGA 0.368000 5 66 0 0 1 0 0 CT47B1 643311 broad.mit.edu 37 X 120009419 120009419 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:120009419C>T ENST00000371311.3 - 1 360 c.106G>A c.(106-108)Ggc>Agc p.G36S NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 36 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 CCGGAGTCGCCGCCCTCCTGG 0.731000 10 79 0 0 1 0 0 G6PC2 57818 broad.mit.edu 37 2 169757994 169757994 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:169757994G>C ENST00000375363.3 + 1 245 c.153G>C c.(151-153)caG>caC p.Q51H SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000421979.1_Missense_Mutation_p.Q51H|G6PC2_ENST00000429379.2_Missense_Mutation_p.Q51H NM_021176.2 NP_066999.1 Q9NQR9 G6PC2_HUMAN glucose-6-phosphatase, catalytic, 2 51 gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 13 AATTTAATCAGACAGTTGGAA 0.313000 6 49 0 0 1 0 0 C15orf40 123207 broad.mit.edu 37 15 83679041 83679041 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:83679041G>A ENST00000304177.5 - 2 219 c.105C>T c.(103-105)tgC>tgT p.C35C C15orf40_ENST00000538348.2_Silent_p.C62C|C15orf40_ENST00000513601.2_Silent_p.C62C|C15orf40_ENST00000451195.3_Silent_p.C62C|C15orf40_ENST00000565712.1_Intron|RP11-382A20.5_ENST00000566841.1_RNA NM_001160114.1|NM_144597.2 NP_001153586.1|NP_653198.2 Q8WUR7 CO040_HUMAN chromosome 15 open reading frame 40 35 large_intestine(3)|lung(2)|skin(1) 6 CTATGGTGACGCATCCTTTAG 0.483000 15 139 0 0 1 0 0 ZNF530 348327 broad.mit.edu 37 19 58118566 58118566 + Missense_Mutation SNP G G A rs138050368 byFrequency TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:58118566G>A ENST00000332854.6 + 3 1893 c.1673G>A c.(1672-1674)cGc>cAc p.R558H ZNF530_ENST00000597864.1_Intron NM_020880.3 NP_065931.3 Q6P9A1 ZN530_HUMAN zinc finger protein 530 558 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R558H(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TCTTTTACCCGCAAAAATCAC 0.453000 8 87 0 0 1 0 0 PSMC2 5701 broad.mit.edu 37 7 102996176 102996176 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:102996176G>C ENST00000435765.1 + 5 637 c.226G>C c.(226-228)Gca>Cca p.A76P PSMC2_ENST00000292644.3_Missense_Mutation_p.A76P|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000544811.1_Intron NM_002803.3 NP_002794.1 P35998 PRS7_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 2 76 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 21 GGCCCCACCAGCACTCTGGGA 0.443000 6 44 0 0 1 0 0 MLH1 4292 broad.mit.edu 37 3 37059048 37059048 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:37059048C>T ENST00000231790.2 + 10 1058 c.842C>T c.(841-843)gCa>gTa p.A281V MLH1_ENST00000539477.1_Missense_Mutation_p.A40V|MLH1_ENST00000458205.2_Missense_Mutation_p.A40V|MLH1_ENST00000455445.2_Missense_Mutation_p.A40V|MLH1_ENST00000536378.1_Missense_Mutation_p.A40V|MLH1_ENST00000435176.1_Missense_Mutation_p.A183V NM_000249.3|NM_001258273.1 NP_000240.1|NP_001245202.1 P40692 MLH1_HUMAN mutL homolog 1 281 Missing (in HNPCC2). mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding p.0?(1) NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 127 ACAGTGTATGCAGCCTATTTG 0.428000 1 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian, CNS""" """colorectal, endometrial, ovarian, CNS""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 7 85 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113275247 113275247 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:113275247A>G ENST00000401783.2 - 5 1598 c.1262T>C c.(1261-1263)cTa>cCa p.L421P SVEP1_ENST00000374469.1_Missense_Mutation_p.L398P|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374461.1_Missense_Mutation_p.L398P|SVEP1_ENST00000302728.8_Missense_Mutation_p.L421P NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 421 Sushi 1. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 ACCATTGGGTAGACATAAGAT 0.433000 9 58 0 0 1 0 0 MCM3AP 8888 broad.mit.edu 37 21 47666772 47666772 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr21:47666772G>A ENST00000397708.1 - 22 4573 c.4319C>T c.(4318-4320)gCc>gTc p.A1440V MCM3AP_ENST00000291688.1_Missense_Mutation_p.A1440V|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1440 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) AGCATCAATGGCACCATCACT 0.577000 13 138 0 0 1 0 0 JPH1 56704 broad.mit.edu 37 8 75227552 75227552 + Missense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:75227552G>T ENST00000342232.4 - 2 723 c.683C>A c.(682-684)tCc>tAc p.S228Y NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 228 Ser-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) GGAAGACTTGGATTCGGACTT 0.577000 11 109 0.00136819 0.00140742 1 1 0 IGHG4 3503 broad.mit.edu 37 14 106090882 106090882 + RNA SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:106090882G>A ENST00000390543.2 - 0 914 GCATCACGGAGCATGAGAAGA 0.617000 4 62 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141625775 141625775 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:141625775C>T ENST00000389484.3 - 26 5198 c.4227G>A c.(4225-4227)atG>atA p.M1409I NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1409 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CAGCACCACTCATAGAGGCAG 0.373000 TSP Lung(27;0.18) 6 90 0 0 1 0 0 ITPKB 3707 broad.mit.edu 37 1 226829801 226829801 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:226829801T>C ENST00000429204.1 - 5 2599 c.2272A>G c.(2272-2274)Aag>Gag p.K758E ITPKB_ENST00000272117.3_Missense_Mutation_p.K758E NM_002221.3 NP_002212.3 P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 758 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) TTCCGGGCCTTCGTGAGCTCC 0.647000 8 113 0 0 1 0 0 FHOD1 29109 broad.mit.edu 37 16 67272176 67272176 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:67272176G>A ENST00000258201.4 - 5 723 c.476C>T c.(475-477)tCa>tTa p.S159L FHOD1_ENST00000567687.1_Intron NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 159 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) CAGCCCCTCTGAATGCACAAA 0.597000 7 39 0 0 1 0 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 3 34 0 0 1 0 0 GDPGP1 390637 broad.mit.edu 37 15 90784558 90784558 + Silent SNP C C A rs147221532 by1000genomes TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:90784558C>A ENST00000558017.1 + 4 838 c.418C>A c.(418-420)Cgg>Agg p.R140R GDPGP1_ENST00000329600.6_Silent_p.R140R NM_001013657.2 NP_001013679.2 Q6ZNW5 VTC2_HUMAN GDP-D-glucose phosphorylase 1 140 glucose metabolic process cytoplasm GDP-D-glucose phosphorylase activity CCGTTTGCACCGGGAGCCTGA 0.602000 13 94 0.00010058 0.000106517 1 1 0 ANKRD10 55608 broad.mit.edu 37 13 111563113 111563113 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr13:111563113T>C ENST00000375758.5 - 2 349 c.215A>G c.(214-216)gAg>gGg p.E72G ANKRD10_ENST00000267339.2_Missense_Mutation_p.E72G|ANKRD10_ENST00000310847.4_Missense_Mutation_p.E72G Q9NXR5 ANR10_HUMAN ankyrin repeat domain 10 72 central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3) 9 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208) CACTAAGCACTCCAACTTCGA 0.478000 6 59 0 0 1 0 0 HBS1L 10767 broad.mit.edu 37 6 135363201 135363201 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:135363201T>C ENST00000367837.5 - 3 379 c.173A>G c.(172-174)tAt>tGt p.Y58C HBS1L_ENST00000367826.2_Intron|HBS1L_ENST00000367820.2_Missense_Mutation_p.Y58C|HBS1L_ENST00000367824.4_Intron|HBS1L_ENST00000415177.2_Missense_Mutation_p.Y58C|HBS1L_ENST00000525067.1_Intron|HBS1L_ENST00000367822.5_Missense_Mutation_p.Y58C|HBS1L_ENST00000314674.3_Missense_Mutation_p.Y58C|HBS1L_ENST00000445176.2_5'UTR NM_001145158.1|NM_006620.3 NP_001138630.1|NP_006611.1 Q9Y450 HBS1L_HUMAN HBS1-like (S. cerevisiae) 58 signal transduction GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 20 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702) CAGATCTTCATAATCATATTC 0.358000 6 40 0 0 1 0 0 IGHMBP2 3508 broad.mit.edu 37 11 68704242 68704242 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:68704242A>G ENST00000255078.3 + 13 2405 c.2294A>G c.(2293-2295)cAc>cGc p.H765R NM_002180.2 NP_002171.2 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 765 R3H. cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GCCGAGGAGCACGGGCTGAGG 0.612000 4 47 0 0 1 0 0 TTC36 143941 broad.mit.edu 37 11 118398294 118398294 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:118398294G>A ENST00000302783.4 + 1 108 c.85G>A c.(85-87)Gga>Aga p.G29R RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000556583.1_RNA|TTC36_ENST00000539546.1_5'UTR NM_001080441.1 NP_001073910.1 A6NLP5 TTC36_HUMAN tetratricopeptide repeat domain 36 29 binding lung(2) 2 ATTGGACCTCGGAGAGGAAGC 0.537000 13 205 0 0 1 0 0 AEBP1 165 broad.mit.edu 37 7 44152667 44152667 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:44152667G>C ENST00000223357.3 + 19 2952 c.2647G>C c.(2647-2649)Gag>Cag p.E883Q AEBP1_ENST00000450684.2_Missense_Mutation_p.E458Q NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 883 Interaction with PTEN (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 GTTCCCTCATGAGAGTGAGCT 0.587000 8 187 0 0 1 0 0 ITGA1 3672 broad.mit.edu 37 5 52211386 52211386 + Missense_Mutation SNP T T A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:52211386T>A ENST00000282588.6 + 15 2408 c.1950T>A c.(1948-1950)gaT>gaA p.D650E NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 650 axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) GTCTGACAGATGTGACTATTG 0.468000 9 124 0 0 1 0 0 GPR83 10888 broad.mit.edu 37 11 94113678 94113678 + Silent SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:94113678G>C ENST00000243673.2 - 4 1080 c.909C>G c.(907-909)ctC>ctG p.L303L GPR83_ENST00000539203.2_Silent_p.L261L NM_016540.3 NP_057624.3 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 303 integral to membrane|plasma membrane neuropeptide Y receptor activity NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GGAACCAGCAGAGGGCAAAGA 0.527000 9 96 0 0 1 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117375351 117375351 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:117375351G>A ENST00000160373.3 - 15 3751 c.3660C>T c.(3658-3660)agC>agT p.S1220S NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1220 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GGCTTTCAGTGCTGCGATTTT 0.388000 5 81 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871052 170871052 + Silent SNP G G A rs112083427 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:170871052G>A ENST00000392092.2 + 3 507 c.228G>A c.(226-228)caG>caA p.Q76Q TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 76 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q76Q(4) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacagcagcagcagcagc 0.572000 11 38 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8974003 8974003 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:8974003T>C ENST00000397910.4 - 76 42871 c.42668A>G c.(42667-42669)tAc>tGc p.Y14223C MUC16_ENST00000380951.5_Missense_Mutation_p.Y864C|MUC16_ENST00000596956.1_5'UTR NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 14286 Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAGGGTGATGTACTCTGAGGA 0.517000 4 14 0 0 1 0 0 PREX1 57580 broad.mit.edu 37 20 47324916 47324916 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr20:47324916G>A ENST00000396220.1 - 6 687 c.665C>T c.(664-666)gCg>gTg p.A222V PREX1_ENST00000371941.3_Missense_Mutation_p.A222V Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 222 DH. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) ACTCTGGACCGCGGGGTGGTC 0.582000 15 187 0 0 1 0 0 PVR 5817 broad.mit.edu 37 19 45153219 45153219 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:45153219C>T ENST00000425690.3 + 3 865 c.566C>T c.(565-567)aCg>aTg p.T189M PVR_ENST00000403059.4_Missense_Mutation_p.T189M|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000406449.4_Missense_Mutation_p.T189M|PVR_ENST00000344956.4_Missense_Mutation_p.T189M NM_006505.3 NP_006496.3 P15151 PVR_HUMAN poliovirus receptor 189 Ig-like C2-type 1. adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus cell adhesion molecule binding|receptor activity p.T189M(1) large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 6 Lung NSC(12;0.00608)|all_lung(12;0.0148) Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112) Epithelial(262;0.000601) ATGCCCAATACGAGCCAGGTG 0.632000 18 86 0 0 1 0 0 VPS35 55737 broad.mit.edu 37 16 46712964 46712964 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:46712964C>T ENST00000299138.7 - 6 669 c.611G>A c.(610-612)cGa>cAa p.R204Q NM_018206.4 NP_060676.2 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 homolog (S. cerevisiae) 204 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1) 23 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TTCTCTATCTCGGCTATGTCC 0.433000 7 63 0 0 1 0 0 SLC4A11 83959 broad.mit.edu 37 20 3214613 3214613 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr20:3214613C>T ENST00000380059.3 - 6 789 c.688G>A c.(688-690)Gcc>Acc p.A230T SLC4A11_ENST00000380056.3_Missense_Mutation_p.A203T|SLC4A11_ENST00000539553.1_Missense_Mutation_p.A187T|SLC4A11_ENST00000474451.1_5'UTR NM_001174090.1 NP_001167561.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 203 cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 GTCACTGTGGCGGTGACCCCT 0.647000 11 81 0 0 1 0 0 ITPKB 3707 broad.mit.edu 37 1 226924442 226924442 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:226924442G>A ENST00000429204.1 - 2 1045 c.718C>T c.(718-720)Cgg>Tgg p.R240W ITPKB_ENST00000272117.3_Missense_Mutation_p.R240W|ITPKB_ENST00000366784.1_Missense_Mutation_p.R240W NM_002221.3 NP_002212.3 P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 240 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) GGGGCAGCCCGGCCGGGAAGA 0.602000 8 111 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33292499 33292499 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:33292499G>A ENST00000280979.4 + 13 5650 c.5480G>A c.(5479-5481)gGc>gAc p.G1827D AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1827 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GAGATGAAGGGCAGTAAAGAT 0.383000 8 114 0 0 1 0 0 FRMPD3 84443 broad.mit.edu 37 X 106845298 106845298 + Silent SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:106845298C>G ENST00000276185.4 + 16 4128 c.4128C>G c.(4126-4128)ctC>ctG p.L1376L Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 1376 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 GCGTGAGCCTCAGCAGCCCCA 0.642000 8 62 0 0 1 0 0 USP45 85015 broad.mit.edu 37 6 99894228 99894228 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:99894228T>C ENST00000327681.6 - 14 1952 c.1420A>G c.(1420-1422)Agc>Ggc p.S474G USP45_ENST00000392738.2_Missense_Mutation_p.S154G|USP45_ENST00000500704.2_Missense_Mutation_p.S474G|USP45_ENST00000539675.1_Intron|USP45_ENST00000369233.2_Missense_Mutation_p.S426G NM_001080481.1 NP_001073950.1 Q70EL2 UBP45_HUMAN ubiquitin specific peptidase 45 474 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 22 all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133) BRCA - Breast invasive adenocarcinoma(108;0.0718) TTCATGAGGCTGGCAAACATT 0.398000 12 71 0 0 1 0 0 EFHC1 114327 broad.mit.edu 37 6 52318995 52318995 + Nonsense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:52318995C>T ENST00000371068.5 + 5 929 c.826C>T c.(826-828)Cga>Tga p.R276* EFHC1_ENST00000538167.1_Nonsense_Mutation_p.R257*|EFHC1_ENST00000433625.2_Nonsense_Mutation_p.R185* NM_018100.3 NP_060570.2 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 276 DM10 2. axoneme|neuronal cell body calcium ion binding|protein C-terminus binding p.R276*(1) breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 27 Lung NSC(77;0.109) GGTGGAAATTCGAGAGGTCCA 0.448000 12 99 0 0 1 0 0 PDGFD 80310 broad.mit.edu 37 11 103814353 103814353 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:103814353A>G ENST00000302251.5 - 5 1032 c.581T>C c.(580-582)gTa>gCa p.V194A PDGFD_ENST00000393158.2_Missense_Mutation_p.V200A NM_025208.4|NM_033135.3 NP_079484.1|NP_149126.1 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D 200 positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) GGGATCCGTTACTGATGGAGA 0.418000 5 23 0 0 1 0 0 STOX2 56977 broad.mit.edu 37 4 184930441 184930441 + Silent SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:184930441C>G ENST00000308497.4 + 3 1885 c.450C>G c.(448-450)ctC>ctG p.L150L STOX2_ENST00000438269.1_Silent_p.L150L NM_020225.1 NP_064610.1 Q9P2F5 STOX2_HUMAN storkhead box 2 150 embryo development|maternal placenta development breast(1)|endometrium(7)|lung(6) 14 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) CTCCTTCCCTCATAAGAACTA 0.532000 8 50 0 0 1 0 0 TNRC6C 57690 broad.mit.edu 37 17 76046980 76046980 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:76046980A>G ENST00000335749.4 + 3 2406 c.1837A>G c.(1837-1839)Aaa>Gaa p.K613E TNRC6C_ENST00000541771.1_Missense_Mutation_p.K613E|TNRC6C_ENST00000588847.1_Missense_Mutation_p.K613E|TNRC6C_ENST00000544502.1_Missense_Mutation_p.K613E|TNRC6C_ENST00000588061.1_Missense_Mutation_p.K613E|TNRC6C_ENST00000301624.4_Missense_Mutation_p.K613E NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 613 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) GGGGGATGGGAAAAAAAATGG 0.522000 8 86 0 0 1 0 0 UCK1 83549 broad.mit.edu 37 9 134401348 134401348 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:134401348T>C ENST00000372215.4 - 6 713 c.620A>G c.(619-621)gAt>gGt p.D207G UCK1_ENST00000372211.3_Missense_Mutation_p.D212G|UCK1_ENST00000372210.3_Missense_Mutation_p.D198G|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372208.3_Silent_p.R175R NM_001261450.1|NM_001261451.1|NM_031432.2 NP_001248379.1|NP_001248380.1|NP_113620.1 Q9HA47 UCK1_HUMAN uridine-cytidine kinase 1 207 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219) GATGATCACATCGGCATACTT 0.537000 7 109 0 0 1 0 0 CD40LG 959 broad.mit.edu 37 X 135741392 135741392 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:135741392G>C ENST00000370629.2 + 5 660 c.604G>C c.(604-606)Gag>Cag p.E202Q CD40LG_ENST00000370628.2_Missense_Mutation_p.E181Q NM_000074.2 NP_000065.1 P29965 CD40L_HUMAN CD40 ligand 202 anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production extracellular space|integral to plasma membrane|soluble fraction CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1) 26 Acute lymphoblastic leukemia(192;0.000127) Atorvastatin(DB01076) CGGTAGATTCGAGAGAATCTT 0.483000 Immune Deficiency with Hyper-IgM 35 344 0 0 1 0 0 KRT16P6 353194 broad.mit.edu 37 17 16722266 16722266 + RNA SNP C C T rs2656363 by1000genomes TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:16722266C>T ENST00000417510.1 - 0 1464 TGGGCATCCTCGCCCTCCAGC 0.592000 4 48 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160468852 160468852 + Missense_Mutation SNP G G A rs141234361 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:160468852G>A ENST00000356956.1 + 17 2406 c.2258G>A c.(2257-2259)cGg>cAg p.R753Q NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 753 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) TACAACTTCCGGTGGTACACC 0.552000 8 94 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140641384 140641384 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:140641384C>G ENST00000509479.2 - 5 3366 c.2510G>C c.(2509-2511)gGa>gCa p.G837A MGST2_ENST00000515137.1_Intron NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 833 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) GGGTCCTATTCCCATCATGCC 0.607000 9 146 0 0 1 0 0 GPR114 221188 broad.mit.edu 37 16 57597804 57597804 + Silent SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:57597804C>A ENST00000340339.4 + 5 865 c.342C>A c.(340-342)ccC>ccA p.P114P GPR114_ENST00000349457.3_Silent_p.P114P|GPR114_ENST00000394361.4_3'UTR NM_153837.1 NP_722579.1 Q8IZF4 GP114_HUMAN G protein-coupled receptor 114 114 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.P114P(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1) 23 TGCAGTTCCCCGCCGAGCTGA 0.622000 13 80 0.0135373 0.01374 1 1 0 OR6B1 135946 broad.mit.edu 37 7 143701563 143701563 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:143701563G>A ENST00000408922.2 + 1 542 c.474G>A c.(472-474)gcG>gcA p.A158A NM_001005281.1 NP_001005281.1 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, member 1 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A158A(1) breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) TCTCCCTGGCGAAGATCTACT 0.532000 8 74 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68274151 68274151 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:68274151T>C ENST00000347230.4 - 5 988 c.850A>G c.(850-852)Aca>Gca p.T284A ZFYVE26_ENST00000555452.1_Missense_Mutation_p.T284A NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 284 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GGCTTTTCTGTGACCTTCTCT 0.597000 7 44 0 0 1 0 0 KIAA1191 57179 broad.mit.edu 37 5 175782579 175782579 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:175782579C>T ENST00000298569.4 - 4 735 c.202G>A c.(202-204)Gcc>Acc p.A68T KIAA1191_ENST00000393728.2_Intron|RP11-843P14.1_ENST00000512934.1_RNA|KIAA1191_ENST00000393725.2_Missense_Mutation_p.A49T|KIAA1191_ENST00000533553.1_Intron|KIAA1191_ENST00000510164.1_Missense_Mutation_p.A68T NM_020444.3 NP_065177.2 Q96A73 K1191_HUMAN KIAA1191 68 protein binding p.A68T(1) endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.101) GATACCTTGGCGAGGTGCTGA 0.592000 6 108 0 0 1 0 0 GLYAT 10249 broad.mit.edu 37 11 58480325 58480325 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:58480325G>A ENST00000344743.3 - 4 365 c.224C>T c.(223-225)aCt>aTt p.T75I GLYAT_ENST00000529732.1_Missense_Mutation_p.T75I|GLYAT_ENST00000278400.3_Missense_Mutation_p.T75I NM_201648.2 NP_964011.2 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase 75 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) GATTTGGTAAGTATTGGTATA 0.318000 5 85 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137092654 137092654 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:137092654T>C ENST00000453654.1 - 30 2457 c.1918A>G c.(1918-1920)Aac>Gac p.N640D DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000446122.1_Missense_Mutation_p.N953D|DGKI_ENST00000424189.2_Missense_Mutation_p.N984D|DGKI_ENST00000288490.5_Missense_Mutation_p.N971D O75912 DGKI_HUMAN diacylglycerol kinase, iota 971 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 ATCTCCCCGTTGCCGGTTTTA 0.428000 5 99 0 0 1 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2867170 2867170 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:2867170G>A ENST00000254695.8 + 7 390 c.300G>A c.(298-300)ccG>ccA p.P100P RAP1GAP2_ENST00000540393.2_Silent_p.P81P|RAP1GAP2_ENST00000366401.4_Silent_p.P85P|RAP1GAP2_ENST00000542807.1_Silent_p.P100P|CTD-3060P21.1_ENST00000574885.1_RNA NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 100 regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity p.P100P(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 AGGGAGGCCCGTACCCTCAGG 0.672000 5 24 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960813 73960813 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:73960813C>G ENST00000373468.1 - 3 4230 c.3579G>C c.(3577-3579)caG>caC p.Q1193H KIAA2022_ENST00000055682.5_Missense_Mutation_p.Q1193H Q5QGS0 K2022_HUMAN KIAA2022 1193 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TGGTGTTTTTCTGAGAAGAGC 0.428000 10 97 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16957109 16957109 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr10:16957109T>C ENST00000377833.4 - 47 7338 c.7273A>G c.(7273-7275)Act>Gct p.T2425A NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 2425 CUB 17. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACCACAGCAGTATTGCTAGAA 0.428000 9 90 0 0 1 0 0 CBWD3 445571 broad.mit.edu 37 9 70871839 70871839 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:70871839G>A ENST00000360171.6 + 5 984 c.433G>A c.(433-435)Gca>Aca p.A145T CBWD3_ENST00000377342.5_Intron NM_201453.2 NP_958861.2 Q5JTY5 CBWD3_HUMAN COBW domain containing 3 145 ATP binding kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18) ATTTTCACGTGCAGTGGCTTC 0.284000 14 260 0 0 1 0 0 FANCD2OS 115795 broad.mit.edu 37 3 10146171 10146171 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:10146171G>A ENST00000450660.2 - 2 504 c.288C>T c.(286-288)ctC>ctT p.L96L FANCD2OS_ENST00000524279.1_Silent_p.L96L NM_001164839.1 NP_001158311.1 FANCD2 opposite strand CTACTCCACTGAGGCGGATGG 0.517000 6 90 0 0 1 0 0 RMDN1 51115 broad.mit.edu 37 8 87498871 87498871 + Splice_Site SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:87498871C>T ENST00000406452.3 - 4 496 c.335_splice c.e4-1 p.E113_splice CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000523911.1_Splice_Site_p.E69_splice|RMDN1_ENST00000519966.1_Splice_Site_p.E113_splice|RMDN1_ENST00000430676.2_Splice_Site_p.E113_splice NM_016033.2 NP_057117.2 regulator of microtubule dynamics 1 TCTGCATCTTCACTAATTTGA 0.368000 5 38 0 0 1 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140751359 140751359 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:140751359G>A ENST00000576222.1 + 1 1529 c.1398G>A c.(1396-1398)ccG>ccA p.P466P PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAACAATCCGCCTGGAGCCT 0.577000 14 122 0 0 1 0 0 RASA4CP 401331 broad.mit.edu 37 7 44076350 44076350 + RNA SNP T T C rs28378571 by1000genomes TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:44076350T>C ENST00000446874.1 - 0 202 GCTGCCAAAGTTCTTTTCCTC 0.617000 6 73 0 0 1 0 0 KRTAP5-8 57830 broad.mit.edu 37 11 71249137 71249137 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:71249137C>T ENST00000398534.3 + 1 67 c.36C>T c.(34-36)tcC>tcT p.S12S NM_021046.2 NP_066384.2 O75690 KRA58_HUMAN keratin associated protein 5-8 12 extracellular region|keratin filament structural constituent of epidermis cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1) 6 GCTGTGGCTCCGGCTGTGGGG 0.647000 16 132 0 0 1 0 0 LPAL2 80350 broad.mit.edu 37 6 160932113 160932113 + RNA SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:160932113G>A ENST00000335388.5 - 0 43 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) GAGAGTAAACGCATCCACAAA 0.438000 12 109 0 0 1 0 0 ZNF786 136051 broad.mit.edu 37 7 148767536 148767536 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:148767536C>G ENST00000316286.9 - 3 2342 c.2070G>C c.(2068-2070)atG>atC p.M690I ZNF786_ENST00000451334.3_Missense_Mutation_p.M739I|ZNF786_ENST00000491431.1_Missense_Mutation_p.M776I Q8N393 ZN786_HUMAN zinc finger protein 786 776 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CGGCCTCTATCATTGCAAACA 0.498000 20 262 0 0 1 0 0 SLC38A5 92745 broad.mit.edu 37 X 48319088 48319088 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:48319088G>A ENST00000376876.3 - 13 1858 c.1015C>T c.(1015-1017)Cgc>Tgc p.R339C SLC38A5_ENST00000317669.5_Missense_Mutation_p.R339C|SLC38A5_ENST00000480105.1_5'UTR|SLC38A5_ENST00000376875.1_Missense_Mutation_p.R288C Q8WUX1 S38A5_HUMAN solute carrier family 38, member 5 339 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1) 19 ACGGCCAGGCGCACACAGAGG 0.632000 9 48 0 0 1 0 0 SHCBP1L 81626 broad.mit.edu 37 1 182873548 182873548 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:182873548C>G ENST00000367547.3 - 8 1590 c.1354G>C c.(1354-1356)Gaa>Caa p.E452Q SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.E333Q NM_030933.2 NP_112195.2 Q9BZQ2 SHP1L_HUMAN SHC SH2-domain binding protein 1-like 524 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2) 15 ATCATAATTTCCTCTCTCTTT 0.363000 7 77 0 0 1 0 0 ZNF439 90594 broad.mit.edu 37 19 11978597 11978597 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:11978597G>C ENST00000304030.2 + 3 913 c.713G>C c.(712-714)gGa>gCa p.G238A ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Missense_Mutation_p.G102A NM_152262.2 NP_689475.1 Q8NDP4 ZN439_HUMAN zinc finger protein 439 238 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2) 27 ACTCACACTGGAGAGAAACCG 0.368000 16 132 0 0 1 0 0 ZNF721 170960 broad.mit.edu 37 4 437477 437477 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:437477G>A ENST00000338977.5 - 2 791 c.743C>T c.(742-744)tCa>tTa p.S248L ZNF721_ENST00000511833.2_Missense_Mutation_p.S260L|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron zinc finger protein 721 endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 GCTTGAGGATGAGGAAATGAC 0.378000 4 57 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3778902 3778902 + Missense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:3778902G>T ENST00000262367.5 - 31 6955 c.6146C>A c.(6145-6147)gCt>gAt p.A2049D CREBBP_ENST00000382070.3_Missense_Mutation_p.A2011D NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 2049 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CCGGGGCCCAGCCACGGCCGC 0.701000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 5 24 0.000602214 0.000622628 1 1 0 CPT1A 1374 broad.mit.edu 37 11 68549278 68549278 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:68549278C>T ENST00000265641.5 - 11 1467 c.1313G>A c.(1312-1314)aGc>aAc p.S438N CPT1A_ENST00000540367.1_Missense_Mutation_p.S438N|CPT1A_ENST00000539743.1_Missense_Mutation_p.S438N|CPT1A_ENST00000376618.2_Missense_Mutation_p.S438N NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) 438 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) TTTGGCGTAGCTGTCCATTGA 0.478000 9 182 0 0 1 0 0 KLHL9 55958 broad.mit.edu 37 9 21333198 21333198 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:21333198G>A ENST00000359039.4 - 1 2181 c.1661C>T c.(1660-1662)tCt>tTt p.S554F KLHL9_ENST00000537938.1_Missense_Mutation_p.S486F Q9P2J3 KLHL9_HUMAN kelch-like family member 9 554 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|midbody endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2) 32 Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118) ATTATTCCAAGAATATCCACC 0.408000 8 140 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946438 16946438 + RNA SNP G G C rs28392876 by1000genomes TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:16946438G>C ENST00000412962.1 - 0 1081 GCCTTCCGCCGGGCCAGCAGC 0.672000 3 8 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39735313 39735313 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:39735313C>G ENST00000395670.3 - 14 2334 c.1915G>C c.(1915-1917)Gaa>Caa p.E639Q KIF21A_ENST00000361961.3_Missense_Mutation_p.E626Q|KIF21A_ENST00000541463.2_Missense_Mutation_p.E626Q|KIF21A_ENST00000361418.5_Missense_Mutation_p.E639Q|KIF21A_ENST00000544797.2_Missense_Mutation_p.E626Q Q7Z4S6 KI21A_HUMAN kinesin family member 21A 639 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) GTACCTTTTTCATCTGATTCA 0.383000 11 56 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48706964 48706964 + Missense_Mutation SNP T T A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:48706964T>A ENST00000314191.2 - 75 10610 c.10554A>T c.(10552-10554)gaA>gaT p.E3518D PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.E3518D NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 3519 FAT. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CAGTGATTTCTTCCACAGAGT 0.468000 Non-homologous end-joining 4 39 0 0 1 0 0 BAHD1 22893 broad.mit.edu 37 15 40754430 40754430 + Silent SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:40754430T>C ENST00000561234.1 + 3 2008 c.1749T>C c.(1747-1749)cgT>cgC p.R583R BAHD1_ENST00000560846.1_Silent_p.R584R|BAHD1_ENST00000416165.1_Silent_p.R584R Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 584 Arg-rich. heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 28 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) GCCGCCGCCGTCGCCGCCGCA 0.652000 18 103 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 64017534 64017534 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:64017534C>T ENST00000443617.2 - 18 3612 c.3525G>A c.(3523-3525)acG>acA p.T1175T NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 1175 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 TGAACAGTGGCGTTTTCATCC 0.473000 4 48 0 0 1 0 0 TPCN2 219931 broad.mit.edu 37 11 68846367 68846367 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:68846367A>G ENST00000294309.3 + 16 1519 c.1418A>G c.(1417-1419)aAc>aGc p.N473S TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.N473S NM_139075.3 NP_620714.2 Q8NHX9 TPC2_HUMAN two pore segment channel 2 473 cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 32 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CAGATTCTCAACTGCGTCTTC 0.597000 4 65 0 0 1 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51917032 51917032 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:51917032C>T ENST00000353836.5 - 9 1691 c.1470G>A c.(1468-1470)agG>agA p.R490R SIGLEC10_ENST00000441969.3_Silent_p.R432R|SIGLEC10_ENST00000339313.5_Silent_p.R585R|SIGLEC10_ENST00000436984.2_Silent_p.R442R|SIGLEC10_ENST00000442846.3_Silent_p.R342R|SIGLEC10_ENST00000525998.1_Silent_p.R400R|SIGLEC10_ENST00000439889.2_Silent_p.R527R|SIGLEC10_ENST00000356298.5_Silent_p.R585R|SIGLEC10_ENST00000432469.2_Silent_p.R407R NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 585 cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) AGAACCTGGGCCTCGGGGTTT 0.567000 7 94 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7064475 7064475 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:7064475C>T ENST00000299481.4 + 4 1564 c.1218C>T c.(1216-1218)agC>agT p.S406S NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 406 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) ATATTTCTAGCTTGTTCACAC 0.493000 13 157 0 0 1 0 0 CATSPER2 117155 broad.mit.edu 37 15 43940128 43940128 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:43940128G>A ENST00000396879.1 - 3 244 c.132C>T c.(130-132)atC>atT p.I44I CATSPER2_ENST00000381761.1_Silent_p.I50I|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000355438.2_Silent_p.I44I|CATSPER2_ENST00000321596.5_Silent_p.I44I|CATSPER2_ENST00000354127.4_Silent_p.I44I|CATSPER2_ENST00000464721.1_Intron Q96P56 CTSR2_HUMAN cation channel, sperm associated 2 44 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) GTAACTCCCTGATAGTGTGCC 0.453000 7 152 0 0 1 0 0 SOCS6 9306 broad.mit.edu 37 18 67993105 67993105 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr18:67993105G>A ENST00000397942.3 + 2 1517 c.1201G>A c.(1201-1203)Gtg>Atg p.V401M SOCS6_ENST00000582322.1_Missense_Mutation_p.V401M NM_004232.3 NP_004223.2 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 401 SH2. defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 22 Esophageal squamous(42;0.129)|Colorectal(73;0.152) GCTAGCAAACGTGCCAGATGG 0.473000 11 90 0 0 1 0 0 PRH2 5555 broad.mit.edu 37 12 11083308 11083308 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:11083308C>A ENST00000396400.3 + 3 186 c.148C>A c.(148-150)Cct>Act p.P50T PRR4_ENST00000536668.1_Intron|PRH2_ENST00000381847.3_Missense_Mutation_p.P50T NM_001110213.1 NP_001103683.1 P02810 PRPC_HUMAN proline-rich protein HaeIII subfamily 2 50 extracellular space protein binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 13 TCAGGGACCACCTTTGGGAGG 0.547000 12 175 6.40141e-05 6.81477e-05 1 1 0 LIG4 3981 broad.mit.edu 37 13 108861664 108861664 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr13:108861664G>A ENST00000356922.4 - 2 2225 c.1953C>T c.(1951-1953)aaC>aaT p.N651N LIG4_ENST00000442234.1_Silent_p.N651N|LIG4_ENST00000405925.1_Silent_p.N651N NM_002312.3|NM_206937.1 NP_002303.2|NP_996820.1 P49917 DNLI4_HUMAN ligase IV, DNA, ATP-dependent 651 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) TTTTGTTAACGTTAGTAAGGT 0.373000 Non-homologous end-joining 12 80 0 0 1 0 0 STRN4 29888 broad.mit.edu 37 19 47231911 47231911 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:47231911G>A ENST00000391910.3 - 7 1453 c.1003C>T c.(1003-1005)Cgg>Tgg p.R335W STRN4_ENST00000263280.6_Missense_Mutation_p.R335W|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000539396.1_Missense_Mutation_p.R216W Q9NRL3 STRN4_HUMAN striatin, calmodulin binding protein 4 335 cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) GTGCACCGCCGAGGGTCTGGA 0.612000 4 54 0 0 1 0 0 SASH1 23328 broad.mit.edu 37 6 148855055 148855055 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:148855055G>A ENST00000367467.3 + 15 2358 c.1883G>A c.(1882-1884)cGg>cAg p.R628Q NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 628 protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) AGGAGGCGTCGGAAAGGACGA 0.537000 10 108 0 0 1 0 0 FSD2 123722 broad.mit.edu 37 15 83456014 83456014 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:83456014C>A ENST00000334574.8 - 2 310 c.129G>T c.(127-129)atG>atT p.M43I FSD2_ENST00000541889.1_Missense_Mutation_p.M43I A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 2 43 breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 CTACTTTCCTCATCCTAGTGT 0.483000 15 145 0.000308642 0.000324047 1 1 0 CLMN 79789 broad.mit.edu 37 14 95670573 95670573 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:95670573C>T ENST00000298912.4 - 9 1226 c.1113G>A c.(1111-1113)gcG>gcA p.A371A NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 371 integral to membrane actin binding p.A371A(1) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) TGTCTGACAGCGCATGGCTGG 0.542000 10 88 0 0 1 0 0 CHN1 1123 broad.mit.edu 37 2 175742857 175742857 + Splice_Site SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:175742857C>T ENST00000409900.3 - 6 574 c.e6-1 CHN1_ENST00000488080.1_Intron|CHN1_ENST00000409156.3_Splice_Site NM_001822.5 NP_001813.1 P15882 CHIN_HUMAN chimerin 1 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) ACTTCCAAATCTGCCTCAATG 0.378000 T TAF15 extraskeletal myxoid chondrosarcoma 3 28 0 0 1 0 0 PDCD2L 84306 broad.mit.edu 37 19 34912527 34912527 + Nonsense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:34912527C>T ENST00000246535.3 + 6 948 c.901C>T c.(901-903)Cag>Tag p.Q301* PDCD2L_ENST00000587065.2_5'UTR NM_032346.1 NP_115722.1 Q9BRP1 PDD2L_HUMAN programmed cell death 2-like 301 cytoplasm breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) ATTTGAGTTTCAGCTTATGCC 0.453000 16 145 0 0 1 0 0 ZHX1 11244 broad.mit.edu 37 8 124267621 124267621 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:124267621T>C ENST00000395571.3 - 3 1183 c.566A>G c.(565-567)aAt>aGt p.N189S ZHX1_ENST00000297857.2_Missense_Mutation_p.N189S|ZHX1_ENST00000522655.1_Missense_Mutation_p.N189S|ZHX1-C8ORF76_ENST00000357082.4_Intron NM_001017926.2|NM_007222.4 NP_001017926.1|NP_009153.3 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 189 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) TTCCACTTTATTTTTCATCAT 0.353000 13 132 0 0 1 0 0 IKZF3 22806 broad.mit.edu 37 17 37922297 37922297 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:37922297C>T ENST00000346872.3 - 8 1337 c.1276G>A c.(1276-1278)Gaa>Aaa p.E426K IKZF3_ENST00000377945.3_Missense_Mutation_p.E292K|IKZF3_ENST00000377952.2_Missense_Mutation_p.E205K|IKZF3_ENST00000377958.2_Missense_Mutation_p.E339K|IKZF3_ENST00000351680.3_Missense_Mutation_p.E387K|IKZF3_ENST00000350532.3_Missense_Mutation_p.E387K|IKZF3_ENST00000346243.3_Missense_Mutation_p.E348K|IKZF3_ENST00000439016.2_Missense_Mutation_p.E331K|IKZF3_ENST00000377944.3_Missense_Mutation_p.E283K|IKZF3_ENST00000394189.2_Missense_Mutation_p.E244K|IKZF3_ENST00000583368.1_Missense_Mutation_p.E179K|IKZF3_ENST00000535189.1_Missense_Mutation_p.E392K|IKZF3_ENST00000467757.1_Missense_Mutation_p.E370K|IKZF3_ENST00000439167.2_Missense_Mutation_p.E353K NM_012481.4 NP_036613.2 Q9UKT9 IKZF3_HUMAN IKAROS family zinc finger 3 (Aiolos) 426 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TTGAGGAGTTCGTAAGAGCGG 0.552000 13 149 0 0 1 0 0 FAM154B 283726 broad.mit.edu 37 15 82575356 82575356 + Missense_Mutation SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:82575356G>T ENST00000339465.5 + 3 1219 c.1150G>T c.(1150-1152)Ggt>Tgt p.G384C FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.G369C NM_001008226.1 NP_001008227.1 Q658L1 F154B_HUMAN family with sequence similarity 154, member B 384 autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2) 19 AAATTCCCAAGGTCATAAATT 0.403000 5 74 0.014758 0.0149293 1 1 0 FBN3 84467 broad.mit.edu 37 19 8181655 8181655 + Silent SNP G G A rs138173924 by1000genomes TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:8181655G>A ENST00000600128.1 - 29 4029 c.3615C>T c.(3613-3615)cgC>cgT p.R1205R FBN3_ENST00000270509.2_Silent_p.R1205R|FBN3_ENST00000601739.1_Silent_p.R1205R Q75N90 FBN3_HUMAN fibrillin 3 1205 EGF-like 17. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GGTCACAAACGCGGGGGTTCT 0.592000 5 78 0 0 1 0 0 FOXJ3 22887 broad.mit.edu 37 1 42655054 42655054 + Missense_Mutation SNP G G A rs61753350 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:42655054G>A ENST00000372572.1 - 12 1684 c.1373C>T c.(1372-1374)gCg>gTg p.A458V FOXJ3_ENST00000372573.1_Missense_Mutation_p.A458V|FOXJ3_ENST00000361776.1_Missense_Mutation_p.A424V|FOXJ3_ENST00000361346.1_Missense_Mutation_p.A458V|FOXJ3_ENST00000372571.1_5'UTR|FOXJ3_ENST00000545068.1_Missense_Mutation_p.A458V NM_001198851.1 NP_001185780.1 Q9UPW0 FOXJ3_HUMAN forkhead box J3 458 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ATCAAGTGTCGCATACCAATC 0.403000 4 37 0 0 1 0 0 CHST6 4166 broad.mit.edu 37 16 75513534 75513534 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:75513534C>G ENST00000332272.4 - 3 372 c.193G>C c.(193-195)Gac>Cac p.D65H CHST6_ENST00000390664.2_Missense_Mutation_p.D65H|RP11-77K12.4_ENST00000530512.3_RNA NM_021615.4 NP_067628.1 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 65 keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TAGAAGACGTCGGGGTGCTGG 0.687000 4 43 0 0 1 0 0 CD109 135228 broad.mit.edu 37 6 74520797 74520797 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:74520797C>T ENST00000437994.2 + 28 4060 c.3629C>T c.(3628-3630)aCg>aTg p.T1210M CD109_ENST00000422508.2_Missense_Mutation_p.T1133M|CD109_ENST00000287097.5_Missense_Mutation_p.T1210M NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 1210 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GTGACCGTGACGGGGCCTAGC 0.458000 8 81 0 0 1 0 0 BCAN 63827 broad.mit.edu 37 1 156617318 156617318 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:156617318G>A ENST00000329117.4 + 4 821 c.485G>A c.(484-486)cGa>cAa p.R162Q RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.R162Q NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 162 Link 1. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTTCTCTACCGAGAGGGCTCT 0.652000 6 41 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160494801 160494801 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:160494801G>A ENST00000356956.1 + 35 5108 c.4960G>A c.(4960-4962)Gtg>Atg p.V1654M NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 1654 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) CGAATGTTCCGTGAGGAATGG 0.403000 6 46 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121379412 121379412 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:121379412C>G ENST00000297848.3 + 46 5350 c.5080C>G c.(5080-5082)Cta>Gta p.L1694V COL14A1_ENST00000309791.4_Missense_Mutation_p.L1694V|COL14A1_ENST00000247781.3_Missense_Mutation_p.L1599V NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1694 Triple-helical region 2 (COL1). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) ttaaaCAGGTCTAACTGGTAT 0.383000 5 41 0 0 1 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33017343 33017343 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr13:33017343A>G ENST00000357505.6 - 7 1390 c.1286T>C c.(1285-1287)aTa>aCa p.I429T N4BP2L2_ENST00000504114.1_Missense_Mutation_p.I429T|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.I444T|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Intron NM_001278432.1 NP_001265361.1 Q92802 N42L2_HUMAN NEDD4 binding protein 2-like 2 100 kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1) 16 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) TTCATTTCCTATCAGTAGTTT 0.418000 10 52 0 0 1 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140731194 140731194 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:140731194A>G ENST00000523390.1 + 1 1367 c.1367A>G c.(1366-1368)cAc>cGc p.H456R PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TATGTGGTCCACGTGTCTGAG 0.562000 5 63 0 0 1 0 0 FAM86DP 692099 broad.mit.edu 37 3 75471362 75471362 + RNA SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:75471362G>A ENST00000459803.1 - 0 1779 NR_024241.1 GAGTGTCAGGGCAAACCCTTT 0.587000 4 17 0 0 1 0 0 GALNT1 2589 broad.mit.edu 37 18 33269223 33269223 + Nonsense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr18:33269223G>A ENST00000269195.5 + 6 1050 c.947G>A c.(946-948)tGg>tAg p.W316* GALNT1_ENST00000537549.1_Nonsense_Mutation_p.W256* NM_020474.3 NP_065207.2 Q10472 GALT1_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) 316 Catalytic subdomain B. protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1) 21 ATGGATATTTGGGGAGGAGAA 0.333000 7 81 0 0 1 0 0 SHQ1 55164 broad.mit.edu 37 3 72799729 72799729 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:72799729G>A ENST00000325599.8 - 11 1579 c.1440C>T c.(1438-1440)ctC>ctT p.L480L SHQ1_ENST00000468371.1_5'UTR|SHQ1_ENST00000463369.1_Silent_p.L452L NM_018130.2 NP_060600.2 Q6PI26 SHQ1_HUMAN SHQ1, H/ACA ribonucleoprotein assembly factor 480 Ser-rich. ribonucleoprotein complex assembly cytosol|nucleoplasm protein binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213) GACTATCTTTGAGTTCATCTT 0.468000 7 111 0 0 1 0 0 SLC23A2 9962 broad.mit.edu 37 20 4843461 4843461 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr20:4843461C>T ENST00000379333.1 - 14 1841 c.1449G>A c.(1447-1449)ccG>ccA p.P483P SLC23A2_ENST00000338244.1_Silent_p.P483P|SLC23A2_ENST00000424750.2_Silent_p.P369P NM_203327.1 NP_976072.1 Q9UGH3 S23A2_HUMAN solute carrier family 23 (ascorbic acid transporter), member 2 483 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 GCACAGGATCCGGAAGGGACG 0.557000 11 67 0 0 1 0 0 SPTBN1 6711 broad.mit.edu 37 2 54856884 54856884 + Nonsense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:54856884G>A ENST00000333896.5 + 13 2959 c.2574G>A c.(2572-2574)tgG>tgA p.W858* SPTBN1_ENST00000356805.4_Nonsense_Mutation_p.W871* NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 871 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) AGGAGCAGTGGCTCAACAACA 0.602000 7 36 0 0 1 0 0 CTAGE5 4253 broad.mit.edu 37 14 39734617 39734617 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:39734617G>A ENST00000341749.3 + 1 122 c.19G>A c.(19-21)Gag>Aag p.E7K CTAGE5_ENST00000557038.1_5'UTR|RP11-407N17.3_ENST00000553728.1_Intron NM_203354.2 NP_976229.1 O15320 CTGE5_HUMAN CTAGE family, member 5 0 enzyme activator activity|protein binding CTAGE5/SIP1(2) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0475) GAAAAGTCCAGAGGAAGAGGT 0.343000 3 32 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187530965 187530965 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:187530965G>A ENST00000441802.2 - 15 10267 c.10058C>T c.(10057-10059)tCt>tTt p.S3353F NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3353 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 CGTGATGACAGACTGCTCAAG 0.393000 HNSCC(5;0.00058) 7 24 0 0 1 0 0 OLFML2B 25903 broad.mit.edu 37 1 161993108 161993108 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:161993108G>A ENST00000294794.3 - 1 536 c.113C>T c.(112-114)gCg>gTg p.A38V OLFML2B_ENST00000367940.2_Missense_Mutation_p.A38V NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 38 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) CTCCGCAGGCGCCACTGTCTG 0.597000 8 63 0 0 1 0 0 PLEKHA8 84725 broad.mit.edu 37 7 30094365 30094365 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:30094365G>A ENST00000449726.1 + 8 1187 c.837G>A c.(835-837)ctG>ctA p.L279L PLEKHA8_ENST00000258679.7_Silent_p.L279L|PLEKHA8_ENST00000396259.1_Silent_p.L279L|PLEKHA8_ENST00000396257.2_Silent_p.L279L NM_001197027.1 NP_001183956.1 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 279 protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 17 TGGAAAACCTGAAAAATCATG 0.343000 19 101 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130409661 130409661 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:130409661C>T ENST00000370904.1 - 22 3858 c.2948G>A c.(2947-2949)cGa>cAa p.R983Q IGSF1_ENST00000370910.1_Missense_Mutation_p.R983Q|IGSF1_ENST00000361420.3_Missense_Mutation_p.R992Q|IGSF1_ENST00000370903.3_Missense_Mutation_p.R997Q Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 992 Ig-like C2-type 10. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 GACCGGCCCTCGGCACCAGAG 0.522000 16 162 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113318368 113318368 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:113318368C>A ENST00000297405.5 - 51 8183 c.7939G>T c.(7939-7941)Gac>Tac p.D2647Y CSMD3_ENST00000343508.3_Missense_Mutation_p.D2607Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.D2577Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.D2543Y NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2647 Sushi 15. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ACCAAATAGTCTGTTGTTAGT 0.368000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 67 0.00909568 0.00924727 1 1 0 POMGNT1 55624 broad.mit.edu 37 1 46655573 46655573 + Nonsense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:46655573G>A ENST00000371992.1 - 20 2388 c.1738C>T c.(1738-1740)Cga>Tga p.R580* POMGNT1_ENST00000371984.3_Nonsense_Mutation_p.R580*|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371986.3_Nonsense_Mutation_p.R580*|POMGNT1_ENST00000535522.1_Nonsense_Mutation_p.R558* NM_001243766.1 NP_001230695.1 Q8WZA1 PMGT1_HUMAN protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 580 protein N-linked glycosylation|protein O-linked glycosylation Golgi membrane|integral to membrane|microsome alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(166;0.155) TTCTCCATTCGAATAAAGGCC 0.547000 4 33 0 0 1 0 0 TAF9B 51616 broad.mit.edu 37 X 77395061 77395061 + Silent SNP G G T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:77395061G>T ENST00000341864.5 - 1 142 c.48C>A c.(46-48)gcC>gcA p.A16A NM_015975.4 NP_057059.2 Q9HBM6 TAF9B_HUMAN TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa 16 negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 14 CACTTACCAAGGCATCTCTCG 0.657000 10 154 7.48243e-07 8.13597e-07 1 1 0 SPHKAP 80309 broad.mit.edu 37 2 228883163 228883163 + Missense_Mutation SNP C C A rs146520315 byFrequency TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:228883163C>A ENST00000392056.3 - 7 2453 c.2407G>T c.(2407-2409)Ggc>Tgc p.G803C SPHKAP_ENST00000344657.5_Missense_Mutation_p.G803C NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 803 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TTGAAGAGGCCTGGCCTCACT 0.463000 20 147 1.28384e-07 1.40097e-07 1 1 0 NOL4 8715 broad.mit.edu 37 18 31538274 31538274 + Missense_Mutation SNP C C T rs137958344 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr18:31538274C>T ENST00000261592.5 - 7 1462 c.1165G>A c.(1165-1167)Gag>Aag p.E389K NOL4_ENST00000538587.1_Missense_Mutation_p.E315K|NOL4_ENST00000589544.1_Missense_Mutation_p.E389K|NOL4_ENST00000535384.1_Missense_Mutation_p.E104K|NOL4_ENST00000535475.1_Missense_Mutation_p.E234K|NOL4_ENST00000269185.4_Missense_Mutation_p.E275K NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 389 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 TCATGGTCCTCGTGGTCATCT 0.498000 13 154 0 0 1 0 0 RPL10L 140801 broad.mit.edu 37 14 47120636 47120636 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:47120636T>C ENST00000298283.3 - 1 392 c.304A>G c.(304-306)Atg>Gtg p.M102V NM_080746.2 NP_542784.1 Q96L21 RL10L_HUMAN ribosomal protein L10-like 102 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1) 27 CAGGACAACATCTTGTTGATG 0.527000 6 77 0 0 1 0 0 NFE2 4778 broad.mit.edu 37 12 54686499 54686499 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:54686499C>T ENST00000540264.2 - 2 1290 c.781G>A c.(781-783)Gag>Aag p.E261K NFE2_ENST00000435572.2_Missense_Mutation_p.E261K|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000312156.4_Missense_Mutation_p.E261K|NFE2_ENST00000553070.1_Missense_Mutation_p.E261K Q16621 NFE2_HUMAN nuclear factor, erythroid 2 261 blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytoplasm|PML body protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2) 16 AGCTGGCTCTCTGTCAGCGGG 0.542000 4 49 0 0 1 0 0 DNM2 1785 broad.mit.edu 37 19 10893656 10893656 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:10893656C>T ENST00000314646.5 + 6 873 c.709C>T c.(709-711)Cgc>Tgc p.R237C DNM2_ENST00000585892.1_Missense_Mutation_p.R237C|DNM2_ENST00000359692.6_Missense_Mutation_p.R237C|DNM2_ENST00000389253.4_Missense_Mutation_p.R237C|DNM2_ENST00000355667.6_Missense_Mutation_p.R237C|DNM2_ENST00000408974.4_Missense_Mutation_p.R237C P50570 DYN2_HUMAN dynamin 2 237 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) CGTGGTGAACCGCAGCCAGAA 0.597000 """F, N, Splice, Mis, O""" ETP ALL 9 49 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124397074 124397074 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:124397074C>T ENST00000360013.3 + 50 7358 c.7231C>T c.(7231-7233)Cgg>Tgg p.R2411W KALRN_ENST00000428018.2_Missense_Mutation_p.R682W|KALRN_ENST00000462213.1_Missense_Mutation_p.R28W|KALRN_ENST00000291478.4_Missense_Mutation_p.R714W NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2410 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CATGAGAAAGCGGGCGGAAGT 0.483000 23 119 0 0 1 0 0 SEMG2 6407 broad.mit.edu 37 20 43851591 43851591 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr20:43851591G>C ENST00000372769.3 + 2 1408 c.1318G>C c.(1318-1320)Gag>Cag p.E440Q NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 440 4 X 60 AA tandem repeats, type I.|Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) CCAAACTGAAGAGAAAATACA 0.378000 11 111 0 0 1 0 0 GEMIN7 79760 broad.mit.edu 37 19 45593422 45593422 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:45593422G>A ENST00000270257.4 + 3 297 c.50G>A c.(49-51)gGc>gAc p.G17D CTB-179K24.3_ENST00000586556.1_RNA|CTB-179K24.4_ENST00000586744.1_RNA|GEMIN7_ENST00000591607.1_Missense_Mutation_p.G17D|GEMIN7_ENST00000391951.2_Missense_Mutation_p.G17D|GEMIN7_ENST00000591747.1_Missense_Mutation_p.G17D NM_001007269.1|NM_001007270.1|NM_024707.2 NP_001007270.1|NP_001007271.1|NP_078983.1 Q9H840 GEMI7_HUMAN gem (nuclear organelle) associated protein 7 17 ncRNA metabolic process|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding endometrium(1)|kidney(1)|lung(4)|ovary(1) 7 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0131) CTGCCCCGGGGCCCTGATGGC 0.557000 8 153 0 0 1 0 0 ARHGAP1 392 broad.mit.edu 37 11 46717606 46717606 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:46717606C>T ENST00000311956.4 - 2 149 c.52G>A c.(52-54)Gag>Aag p.E18K NM_004308.2 NP_004299.1 Q07960 RHG01_HUMAN Rho GTPase activating protein 1 18 Rho protein signal transduction cytosol|intracellular membrane-bounded organelle SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11) GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153) TTCAGAGCCTCGCTGGTGTCA 0.562000 5 20 0 0 1 0 0 PDE5A 8654 broad.mit.edu 37 4 120442176 120442176 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:120442176G>A ENST00000354960.3 - 13 2138 c.1819C>T c.(1819-1821)Cgg>Tgg p.R607W RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000512739.1_5'UTR|PDE5A_ENST00000264805.5_Missense_Mutation_p.R565W|PDE5A_ENST00000394439.1_Missense_Mutation_p.R555W NM_001083.3 NP_001074.2 O76074 PDE5A_HUMAN phosphodiesterase 5A, cGMP-specific 607 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 27 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) ACATTCTTCCGATAATTCTTC 0.348000 10 133 0 0 1 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130782325 130782325 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:130782325C>T ENST00000509018.1 - 22 3477 c.3272G>A c.(3271-3273)cGc>cAc p.R1091H RAPGEF6_ENST00000296859.6_Missense_Mutation_p.R1099H|FNIP1_ENST00000514667.1_Missense_Mutation_p.R1141H|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.R1091H|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.R814H|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.R1104H|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.R1099H NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 1091 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) AGAGCTGCGGCGTGCCCTTTT 0.453000 9 125 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881385 228881385 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:228881385G>A ENST00000392056.3 - 7 4231 c.4185C>T c.(4183-4185)aaC>aaT p.N1395N SPHKAP_ENST00000344657.5_Silent_p.N1395N NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1395 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) AAGGGCTGTGGTTTGTAAGAG 0.463000 25 135 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69103989 69103989 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:69103989C>G ENST00000288368.4 + 36 4656 c.4379C>G c.(4378-4380)cCa>cGa p.P1460R NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1460 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity p.P1460Q(1) NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 AATTCACCACCAAACTCCACA 0.313000 6 48 0 0 1 0 0 SLC35E4 339665 broad.mit.edu 37 22 31033023 31033023 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr22:31033023A>G ENST00000343605.4 + 1 1385 c.586A>G c.(586-588)Acc>Gcc p.T196A SLC35E4_ENST00000406566.1_Missense_Mutation_p.T196A|SLC35E4_ENST00000300385.8_Missense_Mutation_p.T196A NM_001001479.2 NP_001001479.1 Q6ICL7 S35E4_HUMAN solute carrier family 35, member E4 196 Leu-rich. integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 10 GCTCGCAGCCACCTGCCTCCG 0.667000 7 43 0 0 1 0 0 ZNF438 220929 broad.mit.edu 37 10 31137576 31137576 + Silent SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr10:31137576C>A ENST00000538351.1 - 7 2365 c.1611G>T c.(1609-1611)ctG>ctT p.L537L ZNF438_ENST00000361310.3_Silent_p.L586L|ZNF438_ENST00000436087.2_Silent_p.L586L|ZNF438_ENST00000375311.1_Silent_p.L150L|ZNF438_ENST00000452305.1_Silent_p.L576L|ZNF438_ENST00000413025.1_Silent_p.L586L|ZNF438_ENST00000331737.6_Silent_p.L576L|ZNF438_ENST00000444692.2_Silent_p.L576L|ZNF438_ENST00000442986.1_Silent_p.L586L NM_001143769.1 NP_001137241.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 586 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) GCACTTCTTTCAGATGGCCAA 0.478000 12 105 0.000219431 0.00023118 1 1 0 SIGLEC11 114132 broad.mit.edu 37 19 50462016 50462016 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:50462016G>A ENST00000447370.2 - 7 1337 c.1247C>T c.(1246-1248)tCa>tTa p.S416L SIGLEC11_ENST00000426971.2_Missense_Mutation_p.S416L NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 416 Ig-like C2-type 3. cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) CCCGGGGTCTGAGGGCTGGGA 0.677000 12 73 0 0 1 0 0 IFT172 26160 broad.mit.edu 37 2 27684340 27684340 + Nonsense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:27684340C>T ENST00000260570.3 - 22 2341 c.2238G>A c.(2236-2238)tgG>tgA p.W746* NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 746 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) TGTCCATCAGCCACTGGTAGT 0.582000 9 115 0 0 1 0 0 KCNJ11 3767 broad.mit.edu 37 11 17408585 17408585 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:17408585C>T ENST00000339994.4 - 1 1621 c.1054G>A c.(1054-1056)Gac>Aac p.D352N KCNJ11_ENST00000528731.1_Missense_Mutation_p.D265N NM_000525.3 NP_000516.3 B4DWI4 B4DWI4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 11 265 integral to membrane ATP-activated inward rectifier potassium channel activity endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2) 16 READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633) AGGCTGTGGTCCTCATCAAGC 0.622000 OREG0020810 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 79 0 0 1 0 0 KCNA3 3738 broad.mit.edu 37 1 111216030 111216030 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:111216030C>T ENST00000369769.2 - 1 1625 c.1402G>A c.(1402-1404)Ggt>Agt p.G468S NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 468 voltage-gated potassium channel complex delayed rectifier potassium channel activity p.G468S(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) GTCAAGACACCGGCGATGGCA 0.527000 9 52 0 0 1 0 0 MYO10 4651 broad.mit.edu 37 5 16694554 16694554 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:16694554G>A ENST00000513610.1 - 27 4180 c.3726C>T c.(3724-3726)cgC>cgT p.R1242R MYO10_ENST00000505695.1_Silent_p.R581R|MYO10_ENST00000427430.2_Silent_p.R599R|MYO10_ENST00000515803.1_Silent_p.R581R|MYO10_ENST00000274203.9_Silent_p.R599R NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1242 PH 1. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 GCTTGGACTGGCGGAGGACAA 0.572000 14 149 0 0 1 0 0 IGLV1-50 28821 broad.mit.edu 37 22 22681967 22681967 + RNA SNP C C T rs140594791 by1000genomes TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr22:22681967C>T ENST00000390291.2 + 0 200 AACATTGGGGCGGGTTATGTT 0.602000 19 183 0 0 1 0 0 RMDN2 151393 broad.mit.edu 37 2 38202364 38202364 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:38202364G>A ENST00000407257.1 + 4 1318 c.1171G>A c.(1171-1173)Gaa>Aaa p.E391K RMDN2_ENST00000354545.2_Missense_Mutation_p.E213K|RMDN2_ENST00000234195.3_Missense_Mutation_p.E391K|RMDN2_ENST00000406384.1_Missense_Mutation_p.E213K|RMDN2_ENST00000417700.2_Missense_Mutation_p.E68K|RMDN2-AS1_ENST00000414365.2_RNA regulator of microtubule dynamics 2 GTTTAGAGATGAAATAGAGTT 0.318000 5 44 0 0 1 0 0 KCNG2 26251 broad.mit.edu 37 18 77624217 77624217 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr18:77624217G>A ENST00000316249.3 + 1 550 c.550G>A c.(550-552)Gtg>Atg p.V184M NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 184 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) CTGCGTGTCCGTGTCCTTCGT 0.766000 3 16 0 0 1 0 0 LAG3 3902 broad.mit.edu 37 12 6886563 6886563 + Nonsense_Mutation SNP G G A rs61731925 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:6886563G>A ENST00000203629.2 + 6 1524 c.1191G>A c.(1189-1191)tgG>tgA p.W397* NM_002286.5 NP_002277.4 P18627 LAG3_HUMAN lymphocyte-activation gene 3 397 Ig-like C2-type 3. integral to membrane antigen binding|MHC class II protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 CAGGACCTTGGCTGGAGGCAC 0.572000 9 76 0 0 1 0 0 TMEM147 10430 broad.mit.edu 37 19 36037660 36037660 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:36037660G>C ENST00000392204.2 + 3 475 c.147G>C c.(145-147)aaG>aaC p.K49N TMEM147_ENST00000392205.1_Missense_Mutation_p.K98N|TMEM147_ENST00000222284.5_Missense_Mutation_p.K98N NM_001242597.1 NP_001229526.1 Q9BVK8 TM147_HUMAN transmembrane protein 147 98 endoplasmic reticulum membrane|integral to membrane protein binding endometrium(1)|large_intestine(2)|lung(2)|prostate(1) 6 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GAGAGTACAAGATCATGGTTG 0.582000 4 67 0 0 1 0 0 LBX2 85474 broad.mit.edu 37 2 74725408 74725408 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:74725408G>A ENST00000341396.2 - 2 186 c.62C>T c.(61-63)tCg>tTg p.S21L LBX2_ENST00000550249.1_5'UTR|LBX2_ENST00000460508.3_Silent_p.F77F|LBX2_ENST00000377566.4_Silent_p.F81F Q6XYB7 LBX2_HUMAN ladybird homeobox 2 0 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1) 4 GTTTGCGGCCGAAGGGACCAG 0.667000 3 26 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11872838 11872838 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:11872838G>C ENST00000262442.3 + 69 13523 c.13455G>C c.(13453-13455)caG>caC p.Q4485H DNAH9_ENST00000454412.2_Missense_Mutation_p.Q4409H|DNAH9_ENST00000396001.2_Missense_Mutation_p.Q797H|RP11-1096G20.5_ENST00000580270.1_RNA NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 4485 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) TGCTTCTCCAGATTTAGCATC 0.527000 5 16 0 0 1 0 0 BRD4 23476 broad.mit.edu 37 19 15374334 15374334 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:15374334C>T ENST00000263377.2 - 7 1459 c.1238G>A c.(1237-1239)cGt>cAt p.R413H BRD4_ENST00000371835.4_Missense_Mutation_p.R413H|BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000360016.5_Missense_Mutation_p.R413H NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 413 Bromo 2. interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) CTGAGCATCACGGTACTCACG 0.537000 T C15orf55 lethal midline carcinoma of young people 5 50 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58299367 58299367 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr13:58299367G>C ENST00000377918.3 + 4 3445 c.3419G>C c.(3418-3420)aGa>aCa p.R1140T NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 1140 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GAAGTTGTGAGAGAAATTGAT 0.488000 11 215 0 0 1 0 0 SPATA16 83893 broad.mit.edu 37 3 172642075 172642075 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:172642075C>G ENST00000351008.3 - 8 1444 c.1261G>C c.(1261-1263)Gat>Cat p.D421H NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 421 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) CTCACTGTATCTTCTCTGGTC 0.328000 4 69 0 0 1 0 0 FRMPD4 9758 broad.mit.edu 37 X 12734553 12734553 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:12734553G>A ENST00000380682.1 + 15 2481 c.1975G>A c.(1975-1977)Gcc>Acc p.A659T NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 659 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 TGGAGACTTCGCCTTGGATGA 0.483000 26 241 0 0 1 0 0 AGPAT2 10555 broad.mit.edu 37 9 139571495 139571495 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:139571495C>T ENST00000371696.2 - 3 475 c.410G>A c.(409-411)gGc>gAc p.G137D AGPAT2_ENST00000538402.1_Missense_Mutation_p.G137D|AGPAT2_ENST00000371694.3_Missense_Mutation_p.G137D NM_006412.3 NP_006403.2 O15120 PLCB_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 2 137 phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity endometrium(1)|large_intestine(1)|lung(2)|prostate(2) 6 all_cancers(76;0.0893)|all_epithelial(76;0.231) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123) GAAGAAGACGCCCCCGAGGTA 0.657000 11 108 0 0 1 0 0 STIM1 6786 broad.mit.edu 37 11 4112527 4112527 + Nonsense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:4112527C>T ENST00000527651.1 + 13 1683 c.1594C>T c.(1594-1596)Cga>Tga p.R532* STIM1_ENST00000533977.1_Silent_p.S346S|STIM1_ENST00000300737.4_Silent_p.S519S NM_001277962.1 NP_001264891.1 Q13586 STIM1_HUMAN stromal interaction molecule 1 532 activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule calcium ion binding|microtubule plus-end binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233) BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141) TGACCCATTCCGATTCGGAGT 0.552000 6 107 0 0 1 0 0 VCP 7415 broad.mit.edu 37 9 35062342 35062342 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:35062342C>G ENST00000358901.6 - 8 1712 c.817G>C c.(817-819)Gag>Cag p.E273Q NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 273 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CTCATGATCTCAGGACCTGAA 0.443000 5 66 0 0 1 0 0 KCNA2 3737 broad.mit.edu 37 1 111146896 111146896 + Missense_Mutation SNP A A G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:111146896A>G ENST00000485317.1 - 3 1182 c.509T>C c.(508-510)gTc>gCc p.V170A KCNA2_ENST00000369770.3_Missense_Mutation_p.V170A|KCNA2_ENST00000316361.4_Missense_Mutation_p.V170A|KCNA2_ENST00000440270.1_Missense_Mutation_p.V170A|KCNA2_ENST00000525120.1_Intron P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 2 170 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) AATCACCATGACAGACACAAT 0.483000 15 80 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47906074 47906074 + Missense_Mutation SNP C C G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:47906074C>G ENST00000289672.2 - 25 4085 c.4035G>C c.(4033-4035)tgG>tgC p.W1345C NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1345 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GTATTCGTGACCATTGGTTGC 0.433000 11 121 0 0 1 0 0 AMT 275 broad.mit.edu 37 3 49455119 49455119 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:49455119G>A ENST00000273588.3 - 9 1368 c.1066C>T c.(1066-1068)Ctg>Ttg p.L356L AMT_ENST00000538581.1_Silent_p.L300L|AMT_ENST00000546031.1_Silent_p.L259L|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000395338.2_Silent_p.L356L|AMT_ENST00000458307.2_Silent_p.L312L NM_000481.3 NP_000472.2 P48728 GCST_HUMAN aminomethyltransferase 356 glycine catabolic process mitochondrion aminomethyltransferase activity|transaminase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) NADH(DB00157)|Tetrahydrofolic acid(DB00116) TTCTTCTTCAGAGAGGGGGAG 0.592000 15 115 0 0 1 0 0 ADI1 55256 broad.mit.edu 37 2 3504681 3504681 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:3504681C>T ENST00000382093.5 - 3 3143 c.306G>A c.(304-306)agG>agA p.R102R ADI1_ENST00000327435.6_Silent_p.R108R Q9BV57 MTND_HUMAN acireductone dioxygenase 1 108 L-methionine salvage from methylthioadenosine cytoplasm|nucleus|plasma membrane acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1) 10 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228) CCTCCTTGTCCCTCACATCGA 0.542000 4 37 0 0 1 0 0 ZNF543 125919 broad.mit.edu 37 19 57839434 57839434 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:57839434G>A ENST00000321545.4 + 4 949 c.604G>A c.(604-606)Gag>Aag p.E202K NM_213598.3 NP_998763.2 Q08ER8 ZN543_HUMAN zinc finger protein 543 202 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CTATAAATGTGAGGAATGCGG 0.413000 7 128 0 0 1 0 0 CPEB4 80315 broad.mit.edu 37 5 173380196 173380196 + Missense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:173380196C>T ENST00000265085.5 + 9 3337 c.1883C>T c.(1882-1884)gCg>gTg p.A628V CPEB4_ENST00000520867.1_Missense_Mutation_p.A603V|CPEB4_ENST00000517880.1_Missense_Mutation_p.A221V|CPEB4_ENST00000334035.5_Missense_Mutation_p.A611V|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000519835.1_Missense_Mutation_p.A603V|CPEB4_ENST00000522336.1_Missense_Mutation_p.A238V NM_030627.2 NP_085130.2 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding protein 4 628 RRM 2. nucleotide binding|RNA binding NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 20 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GGGAGAGTTGCGTTCTCTAAT 0.463000 8 131 0 0 1 0 0 SERPINH1 871 broad.mit.edu 37 11 75282867 75282867 + Silent SNP G G A rs147936395 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:75282867G>A ENST00000524558.1 + 5 2431 c.996G>A c.(994-996)aaG>aaA p.K332K SERPINH1_ENST00000525876.1_Silent_p.K115K|SERPINH1_ENST00000533603.1_Silent_p.K332K|SERPINH1_ENST00000358171.3_Silent_p.K332K P50454 SERPH_HUMAN serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 332 regulation of proteolysis|response to unfolded protein endoplasmic reticulum lumen|ER-Golgi intermediate compartment collagen binding|serine-type endopeptidase inhibitor activity endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1) 15 Ovarian(111;0.11) CCATTGACAAGAACAAGGCCG 0.602000 5 37 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118352585 118352585 + Nonsense_Mutation SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:118352585C>T ENST00000534358.1 + 7 3813 c.3790C>T c.(3790-3792)Cga>Tga p.R1264* KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R1264*|KMT2A_ENST00000389506.5_Nonsense_Mutation_p.R1264* NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A GCCTCCTCCACGAAAGCCCGT 0.542000 6 73 0 0 1 0 0 ANKFY1 51479 broad.mit.edu 37 17 4088250 4088250 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:4088250G>A ENST00000341657.4 - 12 1597 c.1562C>T c.(1561-1563)aCg>aTg p.T521M CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Missense_Mutation_p.T521M|ANKFY1_ENST00000573722.1_5'UTR|ANKFY1_ENST00000570535.1_Missense_Mutation_p.T563M NM_016376.3 NP_057460.3 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 521 endosome membrane metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 AGCTTCCTCCGTCTGCAGGTT 0.622000 6 59 0 0 1 0 0 PSD2 84249 broad.mit.edu 37 5 139193008 139193008 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:139193008C>T ENST00000274710.3 + 3 691 c.486C>T c.(484-486)gaC>gaT p.D162D NM_032289.2 NP_115665.1 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 162 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTCCCTAGACGGGCTGAGCC 0.657000 5 69 0 0 1 0 0 FCGRT 2217 broad.mit.edu 37 19 50017242 50017242 + Silent SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:50017242G>C ENST00000221466.5 + 3 663 c.177G>C c.(175-177)ctG>ctC p.L59L FCGRT_ENST00000596975.1_Silent_p.L59L|FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000426395.3_Silent_p.L59L NM_001136019.2 NP_001129491.1 P55899 FCGRN_HUMAN Fc fragment of IgG, receptor, transporter, alpha 59 Alpha-1. antigen processing and presentation|female pregnancy|immune response integral to membrane|MHC class I protein complex IgG binding|receptor activity endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 9 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156) AGCAGTACCTGAGCTACAATA 0.642000 9 82 0 0 1 0 0 KRT75 9119 broad.mit.edu 37 12 52824378 52824378 + Missense_Mutation SNP C C T rs143629874 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:52824378C>T ENST00000252245.5 - 5 1202 c.982G>A c.(982-984)Gag>Aag p.E328K NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 328 Coil 2.|Rod. keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) GCAATGTCCTCGTATTGTGCT 0.572000 7 175 0 0 1 0 0 AHDC1 27245 broad.mit.edu 37 1 27874901 27874901 + Silent SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:27874901G>A ENST00000374011.2 - 6 4694 c.3726C>T c.(3724-3726)ttC>ttT p.F1242F AHDC1_ENST00000247087.5_Silent_p.F1242F|AHDC1_ENST00000482400.2_Intron NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1242 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GTGAGGCCTCGAACAGGTCCA 0.652000 4 54 0 0 1 0 0 CHAC2 494143 broad.mit.edu 37 2 53995077 53995077 + Missense_Mutation SNP G G C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:53995077G>C ENST00000295304.4 + 1 149 c.54G>C c.(52-54)caG>caC p.Q18H GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000482829.1_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000263634.3_Intron|GPR75-ASB3_ENST00000406687.1_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000394717.2_Intron NM_001008708.2 NP_001008708.1 Q8WUX2 CHAC2_HUMAN ChaC, cation transport regulator homolog 2 (E. coli) 18 endometrium(1)|large_intestine(2)|lung(4)|prostate(1) 8 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TCCCCTATCAGGACAAGCTGG 0.627000 OREG0014616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 21 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182350666 182350666 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:182350666G>A ENST00000397033.2 + 10 1530 c.1100G>A c.(1099-1101)aGa>aAa p.R367K NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 367 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TATGCTGCAAGATTTGGGGAA 0.363000 18 107 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256838 140256838 + Missense_Mutation SNP T T C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:140256838T>C ENST00000398631.2 + 1 1781 c.1781T>C c.(1780-1782)gTg>gCg p.V594A PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_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) GTGGCGAAAGTGCGCGCGGTG 0.692000 10 93 0 0 1 0 0 TTC26 79989 broad.mit.edu 37 7 138874171 138874171 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:138874171C>A ENST00000464848.1 + 18 1738 c.1658C>A c.(1657-1659)tCc>tAc p.S553Y TTC26_ENST00000478836.2_Missense_Mutation_p.S446Y|TTC26_ENST00000495038.1_Missense_Mutation_p.S422Y|TTC26_ENST00000343187.4_Missense_Mutation_p.S522Y|TTC26_ENST00000430935.1_3'UTR A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 553 binding breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 24 AACAGAGTGTCCATCTAAAAT 0.428000 11 106 4.68919e-08 5.12617e-08 1 1 0 GAA 2548 broad.mit.edu 37 17 78081373 78081373 + Missense_Mutation SNP C C T rs121907944 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:78081373C>T ENST00000302262.3 + 4 929 c.710C>T c.(709-711)gCg>gTg p.A237V GAA_ENST00000390015.3_Missense_Mutation_p.A237V NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid 237 A -> V (in GSD2). cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) ACGACGGTGGCGCCCCTGTTC 0.662000 7 125 0 0 1 0 0 C9orf117 286207 broad.mit.edu 37 9 130474913 130474913 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr9:130474913G>A ENST00000373293.5 + 1 745 c.10G>A c.(10-12)Gag>Aag p.E4K C9orf117_ENST00000373295.2_Intron|C9orf117_ENST00000464092.1_3'UTR Q5JU67 CI117_HUMAN chromosome 9 open reading frame 117 0 breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 6 AATGGGCACTGAGGTTGGAAT 0.567000 5 17 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65413477 65413477 + Missense_Mutation SNP C C A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:65413477C>A ENST00000519389.1 + 8 1707 c.1528C>A c.(1528-1530)Ctg>Atg p.L510M HEPH_ENST00000374727.3_Missense_Mutation_p.L459M|HEPH_ENST00000441993.2_Missense_Mutation_p.L459M|HEPH_ENST00000343002.2_Missense_Mutation_p.L456M|HEPH_ENST00000419594.1_Missense_Mutation_p.L459M|HEPH_ENST00000336279.5_Missense_Mutation_p.L189M Q9BQS7 HEPH_HUMAN hephaestin 456 Plastocyanin-like 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 TCTTGGAATCCTGGGTGAGGA 0.418000 8 37 1 1 1 1 0 PON3 5446 broad.mit.edu 37 7 94996775 94996775 + Silent SNP C C T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:94996775C>T ENST00000265627.5 - 5 403 c.393G>A c.(391-393)gtG>gtA p.V131V PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Silent_p.V131V NM_000940.2 NP_000931.1 paraoxonase 3 breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 24 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0151) GGGGATGATTCACAACATAAA 0.328000 6 101 0 0 1 0 0 PHF13 148479 broad.mit.edu 37 1 6680128 6680128 + Frame_Shift_Del DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:6680128delG ENST00000377648.4 + 3 789 c.407delG c.(406-408)agfs p.R136fs PHF13_ENST00000495385.1_Intron NM_153812.2 NP_722519.2 Q86YI8 PHF13_HUMAN PHD finger protein 13 136 cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(3) 7 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) GAGGGGTACAGGGGGGGCTTG 0.602 13 51 --- --- --- --- C1orf141 400757 broad.mit.edu 37 1 67592911 67592911 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:67592911delT ENST00000371007.2 - 3 122 c.13delA c.(13-15)tcfs p.I5fs C1orf141_ENST00000371006.1_Frame_Shift_Del_p.I5fs|C1orf141_ENST00000544837.1_Frame_Shift_Del_p.I5fs NM_001276351.1 NP_001263280.1 Q5JVX7 CA141_HUMAN chromosome 1 open reading frame 141 5 NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1) 18 TTCTCTAGGATTTTTTCTGCC 0.313 8 125 --- --- --- --- GNG12 55970 broad.mit.edu 37 1 68171151 68171151 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:68171151delT ENST00000370982.3 - 4 401 c.202delA c.(202-204)ctfs p.T68fs NM_018841.5 NP_061329.3 Q9UBI6 GBG12_HUMAN guanine nucleotide binding protein (G protein), gamma 12 68 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex signal transducer activity lung(3) 3 ATGATGCAAGTTTTTTTATCC 0.438 16 96 --- --- --- --- SYT6 148281 broad.mit.edu 37 1 114641761 114641761 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:114641761delT ENST00000393296.1 - 5 1396 c.1319delA c.(1318-1320)acfs p.N440fs SYT6_ENST00000369547.1_Frame_Shift_Del_p.N355fs Q5T7P8 SYT6_HUMAN synaptotagmin VI 440 C2 2. acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTGATCCATGTTTTCCGGGGG 0.488 13 172 --- --- --- --- NCF2 4688 broad.mit.edu 37 1 183543721 183543723 + In_Frame_Del DEL CTT CTT - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:183543721_183543723delCTT ENST00000367535.3 - 4 651_653 c.400_402delAAG c.(400-402)del p.K134del NCF2_ENST00000367536.1_In_Frame_Del_p.K134del|NCF2_ENST00000413720.1_Intron|NCF2_ENST00000418089.1_Intron NM_000433.3 NP_000424.2 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 134 cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 TCCATTCCTCCTTCTTGGCATAC 0.448 13 139 --- --- --- --- DYRK3 8444 broad.mit.edu 37 1 206821441 206821441 + Frame_Shift_Del DEL A A - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:206821441delA ENST00000367106.1 + 4 1311 c.838delA c.(838-840)aafs p.K281fs DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Frame_Shift_Del_p.K281fs|DYRK3_ENST00000367109.2_Frame_Shift_Del_p.K301fs O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 301 Protein kinase. erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2) 25 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) TGAGCTGATTAAAAAAAATAA 0.403 8 157 --- --- --- --- ZNF124 7678 broad.mit.edu 37 1 247319909 247319909 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:247319909delT ENST00000340684.6 - 4 967 c.829delA c.(829-831)ctfs p.T277fs ZNF124_ENST00000543802.2_Frame_Shift_Del_p.T339fs|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491356.1_Intron NM_003431.2 NP_003422.2 Q15973 ZN124_HUMAN zinc finger protein 124 339 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T277P(1) biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2) 14 all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00739) CCAGTATGAGTTTTTTTATGC 0.368 9 61 --- --- --- --- OR2L5 81466 broad.mit.edu 37 1 248185949 248185949 + Frame_Shift_Del DEL A A - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr1:248185949delA ENST00000355281.1 + 1 700 c.700delA c.(700-702)aafs p.K235fs OR2L13_ENST00000366478.2_Intron NM_001258284.1 NP_001245213.1 olfactory receptor, family 2, subfamily L, member 5 AGAAGGGAGGAAAAAGGCCTA 0.498 7 128 --- --- --- --- ANKRD20A8P 729171 broad.mit.edu 37 2 95481129 95481129 + RNA DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:95481129delG ENST00000432432.2 - 0 2231 NR_040113.1 TTCATTTCCTGTGTTTGCTGC 0.368 16 186 --- --- --- --- NIFK 84365 broad.mit.edu 37 2 122485323 122485323 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:122485323delT ENST00000285814.4 - 7 931 c.859delA c.(859-861)gafs p.R289fs AC018737.1_ENST00000419902.1_RNA NM_032390.4 NP_115766.3 Q9BYG3 MK67I_HUMAN 289 protein complex assembly|rRNA metabolic process|rRNA transcription condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1) 12 CTTCTTCGTCTTTTTTTCCGT 0.303 7 115 --- --- --- --- ACVR2A 92 broad.mit.edu 37 2 148657041 148657041 + Frame_Shift_Del DEL A A - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:148657041delA ENST00000241416.7 + 3 914 c.278delA c.(277-279)gafs p.E93fs ACVR2A_ENST00000535787.1_5'UTR|AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000404590.1_Frame_Shift_Del_p.E93fs NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA 93 activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) GATTGTGTAGAAAAAAAAGAC 0.303 23 88 --- --- --- --- COBLL1 22837 broad.mit.edu 37 2 165551296 165551296 + Frame_Shift_Del DEL A A - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:165551296delA ENST00000375458.2 - 11 2827 c.2606delT c.(2605-2607)tgfs p.L869fs COBLL1_ENST00000194871.6_Frame_Shift_Del_p.L974fs|COBLL1_ENST00000342193.4_Frame_Shift_Del_p.L907fs|COBLL1_ENST00000409184.3_Frame_Shift_Del_p.L907fs|COBLL1_ENST00000392717.2_Frame_Shift_Del_p.L945fs NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 945 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 CTGCATCTGCAAAAAAAAAGA 0.418 8 47 --- --- --- --- HOXD8 3234 broad.mit.edu 37 2 176995417 176995417 + Frame_Shift_Del DEL C C - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr2:176995417delC ENST00000313173.4 + 1 950 c.323delC c.(322-324)gcfs p.A108fs HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Intron|HOXD8_ENST00000429017.1_Intron|HOXD8_ENST00000450510.2_Frame_Shift_Del_p.A108fs|HOXD8_ENST00000544999.1_Frame_Shift_Del_p.A108fs NM_001199746.1|NM_019558.3 NP_001186675.1|NP_062458.1 P13378 HXD8_HUMAN homeobox D8 108 anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) TACCAGGCCGccccccctcct 0.741 8 72 --- --- --- --- TTLL3 26140 broad.mit.edu 37 3 9862377 9862377 + Frame_Shift_Del DEL C C - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:9862377delC ENST00000383827.1 + 1 2322 c.41delC c.(40-42)acfs p.T14fs TTLL3_ENST00000455274.1_Frame_Shift_Del_p.T14fs|TTLL3_ENST00000426895.4_Frame_Shift_Del_p.T369fs|TTLL3_ENST00000547186.1_Frame_Shift_Del_p.T226fs|ARPC4-TTLL3_ENST00000397256.1_Frame_Shift_Del_p.T287fs|TTLL3_ENST00000430793.1_Frame_Shift_Del_p.T14fs|TTLL3_ENST00000427853.3_Frame_Shift_Del_p.T14fs|TTLL3_ENST00000397241.1_Frame_Shift_Del_p.T14fs Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 226 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 Medulloblastoma(99;0.227) CTGTACCTCACCCCCGAGGGC 0.602 12 77 --- --- --- --- MB21D2 151963 broad.mit.edu 37 3 192517004 192517004 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr3:192517004delT ENST00000392452.2 - 2 967 c.647delA c.(646-648)atfs p.N216fs NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 216 p.N214fs*11(1) endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 GATGGTCCCATTTTTTTCCAC 0.463 10 101 --- --- --- --- ZNF721 170960 broad.mit.edu 37 4 436405 436406 + Frame_Shift_Del DEL CT CT - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:436405_436406delCT ENST00000338977.5 - 2 1862_1863 c.1814_1815delAG c.(1813-1815)gfs p.E605fs ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Frame_Shift_Del_p.E617fs zinc finger protein 721 endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 CTTTGCCACACTCTTCACATTT 0.411 31 267 --- --- --- --- HNRNPDL 9987 broad.mit.edu 37 4 83350506 83350506 + Frame_Shift_Del DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:83350506delG ENST00000295470.5 - 1 513 c.338delC c.(337-339)ctfs p.P113fs HNRNPDL_ENST00000349655.4_5'UTR|HNRNPDL_ENST00000602300.1_5'UTR|HNRNPDL_ENST00000502762.1_Frame_Shift_Del_p.P113fs|HNRNPDL_ENST00000514511.1_5'UTR NM_001207000.1|NM_031372.3 NP_001193929.1|NP_112740.1 heterogeneous nuclear ribonucleoprotein D-like p.P113fs*11(1) GCTGTCGGCAGGGGGGTGCTG 0.597 10 99 --- --- --- --- DCHS2 54798 broad.mit.edu 37 4 155157144 155157144 + Frame_Shift_Del DEL A A - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr4:155157144delA ENST00000357232.3 - 25 7294 c.7295delT c.(7294-7296)tcfs p.F2432fs NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 2432 Cadherin 22. 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) TGGGAGGGTGAAAAAATACTG 0.438 7 92 --- --- --- --- SLCO6A1 133482 broad.mit.edu 37 5 101794148 101794149 + Frame_Shift_Ins INS - - A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:101794148_101794149insA ENST00000506729.1 - 6 1239_1240 c.1068_1069insT c.(1066-1071)ttacagfs p.LQ356fs SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379807.3_Frame_Shift_Ins_p.LQ356fs|SLCO6A1_ENST00000389019.3_Frame_Shift_Ins_p.LQ294fs|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000514551.1_5'UTR Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 356 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) AGTCTGCTGTCAAAAAAATGAA 0.297 7 81 --- --- --- --- FAT2 2196 broad.mit.edu 37 5 150924483 150924484 + Frame_Shift_Ins INS - - G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr5:150924483_150924484insG ENST00000261800.5 - 9 6216_6217 c.6204_6205insC c.(6202-6207)ccaattfs p.I2069fs NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2069 Cadherin 17. 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) TGCTTAAATTTGGGGGGATTGT 0.505 11 126 --- --- --- --- ZBTB22 9278 broad.mit.edu 37 6 33283004 33283005 + Frame_Shift_Del DEL CA CA - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:33283004_33283005delCA ENST00000431845.2 - 2 1840_1841 c.1689_1690delTG c.(1687-1692)tgagfs p.CE563fs ZBTB22_ENST00000418724.1_Frame_Shift_Del_p.CE563fs NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 563 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 TGCCGGCGCTCACAGTGTCCTC 0.663 8 75 --- --- --- --- ANKS1A 23294 broad.mit.edu 37 6 34951143 34951143 + Frame_Shift_Del DEL C C - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:34951143delC ENST00000360359.3 + 7 1091 c.953delC c.(952-954)acfs p.T318fs ANKS1A_ENST00000535627.1_Intron NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 318 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 GTAGATAAAACCCCCCCACCC 0.418 10 98 --- --- --- --- GJB7 375519 broad.mit.edu 37 6 87993980 87993980 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:87993980delT ENST00000525899.1 - 3 996 c.651delA c.(649-651)aafs p.K217fs GJB7_ENST00000296882.3_Frame_Shift_Del_p.K217fs NM_198568.2 NP_940970.1 Q6PEY0 CXB7_HUMAN gap junction protein, beta 7, 25kDa 217 cell communication connexon complex|integral to membrane p.K217fs*>7(1) endometrium(2)|large_intestine(3) 5 all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323) BRCA - Breast invasive adenocarcinoma(108;0.0167) GGACTTGAGGTTTTTTTAAAT 0.413 7 82 --- --- --- --- AHI1 54806 broad.mit.edu 37 6 135784283 135784284 + Frame_Shift_Ins INS - - T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:135784283_135784284insT ENST00000367800.4 - 6 1126_1127 c.910_911insA c.(910-912)aaafs p.K304fs AHI1_ENST00000457866.2_Frame_Shift_Ins_p.K304fs|AHI1_ENST00000327035.6_Frame_Shift_Ins_p.K304fs NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 304 adherens junction|cilium|microtubule basal body NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) CTTCTTTTTTGTTTTTTTTGGT 0.307 7 54 --- --- --- --- ARID1B 57492 broad.mit.edu 37 6 157100397 157100399 + In_Frame_Del DEL CGC CGC - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:157100397_157100399delCGC ENST00000346085.5 + 1 1335_1337 c.1334_1336delCGC c.(1333-1338)gcg>g p.AP445del ARID1B_ENST00000350026.5_In_Frame_Del_p.AP445del|ARID1B_ENST00000275248.4_In_Frame_Del_p.AP387del|ARID1B_ENST00000367148.1_In_Frame_Del_p.AP445del NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 445 Ala-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity p.P392_S393insP(1) NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) AGCCCCAGCGCGCCGCCGCCGCC 0.778 3 5 --- --- --- --- SYNJ2 8871 broad.mit.edu 37 6 158508009 158508009 + Frame_Shift_Del DEL C C - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:158508009delC ENST00000355585.4 + 23 3406 c.3331delC c.(3331-3333)ccfs p.P1114fs SYNJ2_ENST00000367112.1_Frame_Shift_Del_p.P199fs|SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000367121.3_Frame_Shift_Del_p.P1114fs NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 1114 Pro-rich. nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding p.P1113fs*5(1) biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CCCGCAGAGACCCCCCCCTCC 0.637 12 47 --- --- --- --- TCP10 6953 broad.mit.edu 37 6 167791449 167791450 + Frame_Shift_Ins INS - - G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr6:167791449_167791450insG ENST00000366827.2 - 4 621_622 c.410_411insC c.(409-411)cccfs p.P137fs TCP10_ENST00000397829.4_Frame_Shift_Ins_p.P137fs Q12799 TCP10_HUMAN t-complex 10 164 D -> E (in Ref. 1; AAA82109 and 3; AAH63451). cytosol NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6) 18 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) TCACCTTTGGAGGAGCTAAGTG 0.515 12 259 --- --- --- --- ZMIZ2 83637 broad.mit.edu 37 7 44805118 44805119 + Frame_Shift_Ins INS - - C TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:44805118_44805119insC ENST00000309315.4 + 16 2305_2306 c.2182_2183insC c.(2182-2184)cccfs p.P728fs ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.P696fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.P670fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.P702fs|ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.P728fs NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 728 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CCCCGGCGCTGCCCCCTTTGCC 0.698 7 15 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72297412 72297413 + RNA INS - - A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:72297412_72297413insA ENST00000438125.1 - 0 234 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity AATACTCTATTAAAAAAAATAA 0.322 14 89 --- --- --- --- CYP51A1 1595 broad.mit.edu 37 7 91752493 91752494 + Frame_Shift_Ins INS - - T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:91752493_91752494insT ENST00000003100.8 - 7 1191_1192 c.1026_1027insA c.(1024-1029)aagttafs p.L343fs LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Frame_Shift_Ins_p.L238fs NM_000786.3 NP_000777.1 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, polypeptide 1 337 cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1) 10 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) TCTAAATAACATTTTTTTTGAA 0.396 16 152 --- --- --- --- NUP205 23165 broad.mit.edu 37 7 135258404 135258404 + Frame_Shift_Del DEL A A - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr7:135258404delA ENST00000285968.6 + 3 200 c.174delA c.(172-174)ccfs p.P58fs NUP205_ENST00000440390.2_5'UTR|NUP205_ENST00000489493.1_3'UTR NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 58 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 CATTGTAGCCAAAAAATGTTC 0.413 7 59 --- --- --- --- RP1L1 94137 broad.mit.edu 37 8 10470757 10470757 + Frame_Shift_Del DEL G G - rs74594406 by1000genomes TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:10470757delG ENST00000382483.3 - 4 1074 c.851delC c.(850-852)cgfs p.P284fs NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 284 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) AGGGCCCACCGGGGGGTTGCT 0.662 8 122 --- --- --- --- PSD3 23362 broad.mit.edu 37 8 18490296 18490296 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:18490296delT ENST00000440756.2 - 11 2345 c.2243delA c.(2242-2244)agfs p.K748fs PSD3_ENST00000286485.8_Frame_Shift_Del_p.K212fs|PSD3_ENST00000428502.2_Frame_Shift_Del_p.K75fs|PSD3_ENST00000523619.1_Frame_Shift_Del_p.K681fs|PSD3_ENST00000327040.8_Frame_Shift_Del_p.K746fs Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 747 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) TGAGGGAGACTTTTTTTTCTC 0.363 7 42 --- --- --- --- KAT6A 7994 broad.mit.edu 37 8 41798569 41798569 + Frame_Shift_Del DEL C C - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr8:41798569delC ENST00000396930.3 - 16 3373 c.2830delG c.(2830-2832)ttfs p.V944fs KAT6A_ENST00000406337.1_Frame_Shift_Del_p.V944fs|KAT6A_ENST00000265713.2_Frame_Shift_Del_p.V944fs NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 944 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding CAGGGCTCAACCCCCTCACTG 0.552 9 159 --- --- --- --- ZDHHC16 84287 broad.mit.edu 37 10 99215505 99215507 + In_Frame_Del DEL AAG AAG - rs146287872 byFrequency TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr10:99215505_99215507delAAG ENST00000393760.1 + 10 1262_1264 c.913_915delAAG c.(913-915)del p.K306del ZDHHC16_ENST00000370846.4_In_Frame_Del_p.K236del|ZDHHC16_ENST00000370854.3_In_Frame_Del_p.K306del|ZDHHC16_ENST00000352634.4_In_Frame_Del_p.K290del|ZDHHC16_ENST00000345745.5_In_Frame_Del_p.K225del|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000353979.3_In_Frame_Del_p.K267del|ZDHHC16_ENST00000370842.2_In_Frame_Del_p.K290del NM_198046.1 NP_932163.1 Q969W1 ZDH16_HUMAN zinc finger, DHHC-type containing 16 306 apoptosis endoplasmic reticulum membrane|integral to membrane acyltransferase activity|zinc ion binding kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 14 Colorectal(252;0.0846) Epithelial(162;5.81e-10)|all cancers(201;4.19e-08) GCACATCAACAAGAAGGAGAGAC 0.532 11 136 --- --- --- --- MICALCL 84953 broad.mit.edu 37 11 12316384 12316389 + In_Frame_Del DEL CTCCTA CTCCTA - rs3812754 byFrequency TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:12316384_12316389delCTCCTA ENST00000256186.2 + 3 1697_1702 c.1406_1411delCTCCTA c.(1405-1413)cca>c p.PPT469del NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 469 Poly-Pro. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding p.T471delT(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) cctcctcctcctcctACAGCGGGAGG 0.573 13 4 --- --- --- --- PITPNM1 9600 broad.mit.edu 37 11 67269818 67269818 + Frame_Shift_Del DEL C C - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:67269818delC ENST00000356404.3 - 4 585 c.360delG c.(358-360)ggfs p.G120fs PITPNM1_ENST00000534749.1_Frame_Shift_Del_p.G120fs|PITPNM1_ENST00000436757.2_Frame_Shift_Del_p.G120fs NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 120 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 TTGGCTGCTGCCCCCCATCAG 0.607 7 71 --- --- --- --- MOGAT2 80168 broad.mit.edu 37 11 75431143 75431143 + Frame_Shift_Del DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:75431143delG ENST00000198801.5 + 2 268 c.198delG c.(196-198)cafs p.Q66fs MOGAT2_ENST00000526712.1_5'UTR NM_025098.2 NP_079374.2 Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 66 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 20 Ovarian(111;0.103) AGCCACGGCAGGGGGGCCGGC 0.562 26 185 --- --- --- --- FAT3 120114 broad.mit.edu 37 11 92533399 92533399 + Frame_Shift_Del DEL C C - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:92533399delC ENST00000298047.6 + 9 7237 c.7220delC c.(7219-7221)gcfs p.A2407fs FAT3_ENST00000525166.1_Frame_Shift_Del_p.A2257fs|FAT3_ENST00000409404.2_Frame_Shift_Del_p.A2407fs Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2407 Cadherin 22. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGTGAATTAGCCCCCCGGGGC 0.443 TCGA Ovarian(4;0.039) 7 133 --- --- --- --- TRPC6 7225 broad.mit.edu 37 11 101362286 101362287 + Splice_Site INS - - T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:101362286_101362287insT ENST00000344327.3 - 3 1552_1553 c.e3+1 TRPC6_ENST00000360497.4_Splice_Site|TRPC6_ENST00000532133.1_Splice_Site|TRPC6_ENST00000348423.4_Intron NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) CCTGACCTTACTTTTTTTACTT 0.396 14 177 --- --- --- --- SORL1 6653 broad.mit.edu 37 11 121475905 121475905 + Frame_Shift_Del DEL A A - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr11:121475905delA ENST00000260197.7 + 34 4864 c.4735delA c.(4735-4737)aafs p.K1580fs SORL1_ENST00000532694.1_Frame_Shift_Del_p.K426fs|SORL1_ENST00000525532.1_Frame_Shift_Del_p.K524fs|SORL1_ENST00000534286.1_Frame_Shift_Del_p.K490fs|SORL1_ENST00000527934.1_Frame_Shift_Del_p.K195fs NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1580 Fibronectin type-III 1. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GATGAGGCCCAAAAAAATGCC 0.438 9 102 --- --- --- --- FOXM1 2305 broad.mit.edu 37 12 2968088 2968088 + Frame_Shift_Del DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:2968088delG ENST00000342628.2 - 10 2235 c.2122delC c.(2122-2124)ttfs p.L708fs FOXM1_ENST00000361953.3_Frame_Shift_Del_p.L655fs|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000359843.3_Frame_Shift_Del_p.L670fs NM_202002.2 NP_973731.1 Q08050 FOXM1_HUMAN forkhead box M1 670 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) GGTGATTCAAGGGGGGGAGCA 0.577 7 63 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080212 7080213 + RNA INS - - C rs36063533 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:7080212_7080213insC ENST00000546220.1 + 0 157_158 U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding GAGGCCGTAGTTTATTGTGGTG 0.569 5 10 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546320 11546322 + In_Frame_Del DEL TTG TTG - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:11546320_11546322delTTG ENST00000389362.4 - 3 725_727 c.690_692delCAA c.(688-693)aag>aa p.NK230del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) ACTTTGGGACTTGTTGTCTCCTT 0.601 9 513 --- --- --- --- PIK3C2G 5288 broad.mit.edu 37 12 18435201 18435202 + Frame_Shift_Ins INS - - T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:18435201_18435202insT ENST00000433979.1 + 2 302_303 c.186_187insT c.(184-189)acttttfs p.TF62fs PIK3C2G_ENST00000535651.1_Frame_Shift_Ins_p.TF62fs|PIK3C2G_ENST00000266497.5_Frame_Shift_Ins_p.TF62fs|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000538779.1_Frame_Shift_Ins_p.TF62fs NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 62 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) ATGAAAACACCTTTTTTGTGCC 0.406 11 75 --- --- --- --- MED21 9412 broad.mit.edu 37 12 27181336 27181337 + Frame_Shift_Del DEL CA CA - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:27181336_27181337delCA ENST00000282892.3 + 4 407_408 c.377_378delCA c.(376-378)gfs p.A126fs MED21_ENST00000536503.1_3'UTR|MED21_ENST00000546323.1_Frame_Shift_Del_p.A126fs NM_001271811.1|NM_004264.3 NP_001258740.1|NP_004255.2 Q13503 MED21_HUMAN mediator complex subunit 21 126 positive regulation of transcription from RNA polymerase II promoter mediator complex DNA-directed RNA polymerase activity|transcription coactivator activity Colorectal(261;0.0847) GCTGATATTGCACAGTCACAGC 0.450 11 116 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49445525 49445526 + Frame_Shift_Ins INS - - G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:49445525_49445526insG ENST00000301067.7 - 10 1939_1940 c.1940_1941insC c.(1939-1941)cccfs p.P647fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D ATACCTCAGGTGGGGGGGACAT 0.634 11 74 --- --- --- --- PMEL 6490 broad.mit.edu 37 12 56355458 56355470 + Frame_Shift_Del DEL GTTCCAGGCTTTG GTTCCAGGCTTTG - rs144985891 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:56355458_56355470delGTTCCAGGCTTTG ENST00000548747.1 - 2 785_797 c.123_135delCAAAGCCTGGAAC c.(121-135)acfs p.TKAWN41fs PMEL_ENST00000536427.1_Frame_Shift_Del_p.TKAWN41fs|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000539511.1_Intron|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000550464.1_Intron|PMEL_ENST00000548493.1_Frame_Shift_Del_p.TKAWN41fs|PMEL_ENST00000360714.4_Frame_Shift_Del_p.TKAWN41fs|PMEL_ENST00000449260.2_Frame_Shift_Del_p.TKAWN41fs|PMEL_ENST00000552882.1_Frame_Shift_Del_p.TKAWN41fs P40967 PMEL_HUMAN premelanosome protein 41 melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ACAGCTGCCTGTTCCAGGCTTTGGTTCTGAGTT 0.540 11 167 --- --- --- --- LRP1 4035 broad.mit.edu 37 12 57572242 57572242 + Frame_Shift_Del DEL G G - rs139915490 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:57572242delG ENST00000243077.3 + 27 4928 c.4462delG c.(4462-4464)ggfs p.G1489fs NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1489 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GACGCTGTACGGGGGGGAGGT 0.587 7 118 --- --- --- --- TMTC3 160418 broad.mit.edu 37 12 88553917 88553917 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:88553917delT ENST00000266712.6 + 5 755 c.535delT c.(535-537)ttfs p.F179fs NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 179 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 CTTGACAGTGTTTTTAGTGGC 0.318 11 165 --- --- --- --- POC1B-GALNT4 100528030 broad.mit.edu 37 12 89917031 89917031 + Frame_Shift_Del DEL A A - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:89917031delA ENST00000548729.1 - 3 1589 c.1287delT c.(1285-1287)ttfs p.F429fs POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000549504.1_Intron|GALNT4_ENST00000529983.2_Frame_Shift_Del_p.F432fs|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000549035.1_Intron|POC1B-GALNT4_ENST00000413530.1_Frame_Shift_Del_p.F260fs NM_001199781.1|NM_001199782.1 NP_001186710.1|NP_001186711.1 GTAAATTAGGAAAAACGTTTT 0.403 9 97 --- --- --- --- FAM71C 196472 broad.mit.edu 37 12 100042354 100042354 + Frame_Shift_Del DEL A A - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr12:100042354delA ENST00000324341.1 + 1 824 c.402delA c.(400-402)gtfs p.V134fs ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron NM_153364.3 NP_699195.1 Q8NEG0 FA71C_HUMAN family with sequence similarity 71, member C 134 breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) ACAACAGCGTAAAAAAACAGC 0.478 13 91 --- --- --- --- TPTE2P1 646405 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 5 8 --- --- --- --- SLITRK6 84189 broad.mit.edu 37 13 86368721 86368722 + Frame_Shift_Ins INS - - T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr13:86368721_86368722insT ENST00000400286.2 - 2 2520_2521 c.1922_1923insA c.(1921-1923)aaafs p.K641fs NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 641 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) CTACTTGTTTCTTTTTGTATCT 0.411 13 156 --- --- --- --- FANCM 57697 broad.mit.edu 37 14 45645955 45645955 + Frame_Shift_Del DEL A A - rs143681767 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:45645955delA ENST00000267430.5 + 14 4083 c.3998delA c.(3997-3999)cafs p.Q1333fs FANCM_ENST00000542564.2_Frame_Shift_Del_p.Q1307fs NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1333 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 TTACCAGTGCAAAAAAAAGTT 0.328 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 12 82 --- --- --- --- EIF5 1983 broad.mit.edu 37 14 103805991 103805991 + Frame_Shift_Del DEL A A - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr14:103805991delA ENST00000216554.3 + 10 1598 c.922delA c.(922-924)aafs p.K309fs EIF5_ENST00000558506.1_Frame_Shift_Del_p.K309fs|EIF5_ENST00000392715.2_Frame_Shift_Del_p.K309fs NM_001969.4 NP_001960.2 P55010 IF5_HUMAN eukaryotic translation initiation factor 5 309 W2. regulation of translational initiation|RNA metabolic process cytosol GTP binding|GTPase activity|translation initiation factor activity breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(154;0.155) Epithelial(46;0.182) TCACAACAACAAAAAAGCCCA 0.388 12 124 --- --- --- --- EHD4 30844 broad.mit.edu 37 15 42192889 42192890 + Frame_Shift_Ins INS - - G rs145578237 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:42192889_42192890insG ENST00000220325.4 - 6 1662_1663 c.1579_1580insC c.(1579-1581)cctfs p.P527fs NM_139265.3 NP_644670.1 Q9H223 EHD4_HUMAN EH-domain containing 4 527 EH. endocytic recycling|protein homooligomerization early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1) 20 all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538) GGGCACGAGGTGGGGGGGCAGG 0.673 8 29 --- --- --- --- TRPM7 54822 broad.mit.edu 37 15 50925140 50925140 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:50925140delT ENST00000313478.7 - 9 1338 c.1057delA c.(1057-1059)cafs p.T353fs TRPM7_ENST00000560955.1_Frame_Shift_Del_p.T353fs NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 353 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) AAGTTAAATGTTTTTTTGATA 0.338 10 64 --- --- --- --- TM6SF1 53346 broad.mit.edu 37 15 83805312 83805312 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr15:83805312delT ENST00000322019.9 + 10 1275 c.1001delT c.(1000-1002)ctfs p.L334fs TM6SF1_ENST00000379386.4_Frame_Shift_Del_p.L337fs|TM6SF1_ENST00000379390.6_3'UTR|TM6SF1_ENST00000565774.1_Frame_Shift_Del_p.L303fs Q9BZW5 TM6S1_HUMAN transmembrane 6 superfamily member 1 334 integral to membrane endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 GCAAAAATCCTTTTTTTAGCA 0.368 8 133 --- --- --- --- SALL1 6299 broad.mit.edu 37 16 51175656 51175658 + In_Frame_Del DEL GCT GCT - rs13336129 byFrequency TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:51175656_51175658delGCT ENST00000440970.1 - 2 615_617 c.184_186delAGC c.(184-186)del p.S62del SALL1_ENST00000251020.4_In_Frame_Del_p.S159del|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 159 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S159G(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) cgccgccgccgctgctgctgctg 0.631 9 50 --- --- --- --- IRX5 10265 broad.mit.edu 37 16 54966679 54966680 + Frame_Shift_Del DEL AG AG - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:54966679_54966680delAG ENST00000394636.4 + 2 856_857 c.519_520delAG c.(517-522)aaagfs p.KE173fs IRX5_ENST00000558597.1_Frame_Shift_Del_p.KE107fs|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000320990.5_Frame_Shift_Del_p.KE173fs P78411 IRX5_HUMAN iroquois homeobox 5 173 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding kidney(3)|large_intestine(6)|lung(4)|prostate(1) 14 GCCTCAAGAAAGAGAATAAAAT 0.599 14 132 --- --- --- --- BCAR1 9564 broad.mit.edu 37 16 75268875 75268875 + Frame_Shift_Del DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:75268875delG ENST00000546196.1 - 5 3487 c.1835delC c.(1834-1836)ctfs p.P612fs BCAR1_ENST00000542031.2_Frame_Shift_Del_p.P639fs|BCAR1_ENST00000538440.2_Frame_Shift_Del_p.P641fs|BCAR1_ENST00000393422.2_Frame_Shift_Del_p.P659fs|BCAR1_ENST00000393420.6_Frame_Shift_Del_p.P659fs|BCAR1_ENST00000420641.3_Frame_Shift_Del_p.P659fs|BCAR1_ENST00000162330.5_Frame_Shift_Del_p.P641fs|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000418647.3_Frame_Shift_Del_p.P687fs|BCAR1_ENST00000535626.2_Frame_Shift_Del_p.P493fs P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 641 Ser-rich. actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 35 BRCA - Breast invasive adenocarcinoma(221;0.169) GGTGAACTTAGGGGGTGAGGG 0.657 10 76 --- --- --- --- ADAMTS18 170692 broad.mit.edu 37 16 77356311 77356311 + Frame_Shift_Del DEL A A - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr16:77356311delA ENST00000282849.5 - 14 2503 c.2085delT c.(2083-2085)ttfs p.F695fs NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 695 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.A696fs*18(2) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CGGACATTGCAAAAAAAAATT 0.403 8 86 --- --- --- --- SSH2 85464 broad.mit.edu 37 17 27963208 27963208 + Frame_Shift_Del DEL A A - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:27963208delA ENST00000269033.3 - 14 2110 c.1959delT c.(1957-1959)ttfs p.F653fs RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Del_p.F680fs NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 653 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CTAGGGCACTAAAAAAGTCAA 0.502 13 111 --- --- --- --- WNK4 65266 broad.mit.edu 37 17 40939870 40939870 + Frame_Shift_Del DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr17:40939870delG ENST00000246914.5 + 8 1837 c.1816delG c.(1816-1818)ggfs p.G607fs WNK4_ENST00000587705.1_Intron NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 607 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) TCAGCCCCCTGGGGGGGTGCC 0.637 11 77 --- --- --- --- NPIPB1P 729602 broad.mit.edu 37 18 11621297 11621298 + RNA INS - - G TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr18:11621297_11621298insG ENST00000547442.1 - 0 689_690 TTCTTGCAGAAGGGGGGATCTG 0.460 10 302 --- --- --- --- MIER2 54531 broad.mit.edu 37 19 308884 308886 + In_Frame_Del DEL GTA GTA - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:308884_308886delGTA ENST00000264819.4 - 11 1034_1036 c.1024_1026delTAC c.(1024-1026)del p.Y342del NM_017550.1 NP_060020.1 Q8N344 MIER2_HUMAN mesoderm induction early response 1, family member 2 342 SANT. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCTTCCACAGGTAGTAGTACTCG 0.670 10 93 --- --- --- --- TMPRSS9 360200 broad.mit.edu 37 19 2422029 2422030 + Frame_Shift_Ins INS - - T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:2422029_2422030insT ENST00000332578.3 + 13 2230_2231 c.2230_2231insT c.(2230-2232)cccfs p.P744fs NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 744 proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCCATGTCTCCCCCCTCGACC 0.663 7 102 --- --- --- --- GIPC3 126326 broad.mit.edu 37 19 3586543 3586543 + Frame_Shift_Del DEL G G - rs8113232 byFrequency TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:3586543delG ENST00000322315.5 + 2 321 c.276delG c.(274-276)ctfs p.L92fs NM_133261.2 NP_573568.1 Q8TF64 GIPC3_HUMAN GIPC PDZ domain containing family, member 3 92 breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) AGAAGCTCCTGGGGGGTCAGA 0.577 OREG0025154 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 93 --- --- --- --- DYRK1B 9149 broad.mit.edu 37 19 40316612 40316612 + Frame_Shift_Del DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:40316612delG ENST00000593685.1 - 11 2101 c.1633delC c.(1633-1635)agfs p.Q545fs DYRK1B_ENST00000430012.2_Frame_Shift_Del_p.Q505fs|DYRK1B_ENST00000348817.3_Frame_Shift_Del_p.Q517fs|DYRK1B_ENST00000597639.1_Frame_Shift_Del_p.Q517fs|DYRK1B_ENST00000323039.5_Frame_Shift_Del_p.Q545fs Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B 545 positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) TATCGGGGCTGGGGGGGTAAC 0.692 7 48 --- --- --- --- DEDD2 162989 broad.mit.edu 37 19 42713983 42713983 + Frame_Shift_Del DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:42713983delG ENST00000595337.1 - 4 545 c.458delC c.(457-459)cafs p.P153fs DEDD2_ENST00000598727.1_Frame_Shift_Del_p.P153fs|DEDD2_ENST00000596251.1_Frame_Shift_Del_p.P153fs|DEDD2_ENST00000336034.4_Frame_Shift_Del_p.P148fs|DEDD2_ENST00000593804.1_5'UTR NM_001270614.1 NP_001257543.1 Q8WXF8 DEDD2_HUMAN death effector domain containing 2 153 activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent nucleolus DNA binding|receptor signaling complex scaffold activity endometrium(1)|large_intestine(1)|ovary(1)|prostate(2) 5 Prostate(69;0.0704) CCGCTTGGTTGGGGGGGAGCC 0.662 7 32 --- --- --- --- ARHGAP35 2909 broad.mit.edu 37 19 47424760 47424760 + Frame_Shift_Del DEL A A - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:47424760delA ENST00000404338.3 + 1 2828 c.2828delA c.(2827-2829)gafs p.E943fs NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 943 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity p.K945fs*3(1) GATGTGGTGGAAAAAAAGAAC 0.473 18 139 --- --- --- --- EHD2 30846 broad.mit.edu 37 19 48244287 48244287 + Frame_Shift_Del DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:48244287delG ENST00000263277.3 + 6 1481 c.1230delG c.(1228-1230)cafs p.Q410fs EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Frame_Shift_Del_p.Q274fs NM_014601.3 NP_055416.2 Q9NZN4 EHD2_HUMAN EH-domain containing 2 410 blood coagulation|endocytic recycling nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 19 all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537) TGGGCGTGCAGGGGGGCGCTT 0.677 8 62 --- --- --- --- ZSCAN5D 646698 broad.mit.edu 37 19 56758135 56758135 + Frame_Shift_Del DEL A A - rs61738591 TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chr19:56758135delA ENST00000600684.1 + 5 763 c.763delA c.(763-765)aafs p.255fs ZSCAN5A_ENST00000254165.3_Intron|ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000587340.1_Intron zinc finger and SCAN domain containing 5D GAAGGAACCCAAAAAAAGAGC 0.498 10 86 --- --- --- --- PCDH11X 27328 broad.mit.edu 37 X 91134260 91134261 + Frame_Shift_Del DEL AC AC - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:91134260_91134261delAC ENST00000373094.1 + 2 3866_3867 c.3021_3022delAC c.(3019-3024)gtacfs p.VH1007fs PCDH11X_ENST00000298274.8_Frame_Shift_Del_p.VH1007fs|PCDH11X_ENST00000395337.2_Frame_Shift_Del_p.VH1007fs|PCDH11X_ENST00000373088.1_Frame_Shift_Del_p.VH1007fs|PCDH11X_ENST00000361724.1_Frame_Shift_Del_p.VH1007fs|PCDH11X_ENST00000373097.1_Frame_Shift_Del_p.VH1007fs|PCDH11X_ENST00000406881.1_Frame_Shift_Del_p.VH1007fs|PCDH11X_ENST00000361655.2_Frame_Shift_Del_p.VH1007fs|PCDH11X_ENST00000504220.1_Frame_Shift_Del_p.VH1007fs NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1007 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CTGTGTCCGTACACACCAGACC 0.406 19 154 --- --- --- --- RNF128 79589 broad.mit.edu 37 X 106016281 106016281 + Frame_Shift_Del DEL T T - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:106016281delT ENST00000255499.2 + 2 873 c.623delT c.(622-624)atfs p.I208fs RNF128_ENST00000324342.3_Frame_Shift_Del_p.I182fs NM_194463.1 NP_919445.1 Q8TEB7 RN128_HUMAN ring finger protein 128, E3 ubiquitin protein ligase 208 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 CACTATTCAATTTTTTTCGTT 0.388 11 160 --- --- --- --- TENM1 10178 broad.mit.edu 37 X 124029940 124029941 + Frame_Shift_Ins INS - - T TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:124029940_124029941insT ENST00000422452.2 - 2 430_431 c.367_368insA c.(367-369)gtgfs p.V123fs TENM1_ENST00000371130.3_Frame_Shift_Ins_p.V123fs NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CCTTATCCACATTCTTAGTGCA 0.495 49 291 --- --- --- --- SRPK3 26576 broad.mit.edu 37 X 153049647 153049647 + Frame_Shift_Del DEL G G - TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8e6937-9fd7-41cc-ac74-d8b75235d4b3 ff349f37-b5ea-4475-bcd8-02d18f80c40e g.chrX:153049647delG ENST00000489426.1 + 16 3693 c.1327delG c.(1327-1329)ggfs p.G444fs SRPK3_ENST00000370100.1_Frame_Shift_Del_p.G302fs|SRPK3_ENST00000370101.3_Frame_Shift_Del_p.G377fs|SRPK3_ENST00000370108.3_Frame_Shift_Del_p.G344fs|SRPK3_ENST00000393786.3_Frame_Shift_Del_p.G343fs|SRPK3_ENST00000370104.1_Frame_Shift_Del_p.G376fs Q9UPE1 SRPK3_HUMAN SRSF protein kinase 3 377 Protein kinase. cell differentiation|muscle organ development|muscle tissue development ATP binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1) 13 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GCGAGAGACCGGGGGCCTCCT 0.642 8 80 --- --- --- ---