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 NPHP4 261734 broad.mit.edu 37 1 5940290 5940290 + Missense_Mutation SNP C C T TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50c8781c-f2c7-4eb3-beb6-322e4c08e79b 62240b66-a483-4a6a-a55c-06b9734d523a g.chr1:5940290C>T ENST00000378156.4 - 19 2760 c.2495G>A c.(2494-2496)tGt>tAt p.C832Y NPHP4_ENST00000478423.2_5'UTR NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephronophthisis 4 832 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) TTTCTGTTCACACGGGTGACC 0.507 5 23 --- --- --- --- CDC20 991 broad.mit.edu 37 1 43828701 43828701 + Silent SNP G G A TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50c8781c-f2c7-4eb3-beb6-322e4c08e79b 62240b66-a483-4a6a-a55c-06b9734d523a g.chr1:43828701G>A ENST00000372462.1 + 10 1604 c.1401G>A c.(1399-1401)ctG>ctA p.L467L CDC20_ENST00000310955.6_Silent_p.L467L Q12834 CDC20_HUMAN cell division cycle 20 467 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm|spindle enzyme binding|protein C-terminus binding endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 15 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ATGAGACCCTGAGGCTATGGC 0.607 22 58 --- --- --- --- DPYD 1806 broad.mit.edu 37 1 97700433 97700433 + Missense_Mutation SNP A A G TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50c8781c-f2c7-4eb3-beb6-322e4c08e79b 62240b66-a483-4a6a-a55c-06b9734d523a g.chr1:97700433A>G ENST00000370192.3 - 19 2517 c.2417T>C c.(2416-2418)cTc>cCc p.L806P DPYD-AS1_ENST00000422980.1_RNA NM_000110.3 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 806 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) ACCACTATGGAGAAACTGAAG 0.433 6 15 --- --- --- --- SPTA1 6708 broad.mit.edu 37 1 158606472 158606472 + Missense_Mutation SNP G G A TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50c8781c-f2c7-4eb3-beb6-322e4c08e79b 62240b66-a483-4a6a-a55c-06b9734d523a g.chr1:158606472G>A ENST00000368147.4 - 37 5449 c.5269C>T c.(5269-5271)Cgc>Tgc p.R1757C NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.R1757C(2) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CCCTCTAGGCGTTTGTGCTTC 0.473 21 83 --- --- --- --- HMCN1 83872 broad.mit.edu 37 1 186097410 186097410 + Missense_Mutation SNP C C A TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50c8781c-f2c7-4eb3-beb6-322e4c08e79b 62240b66-a483-4a6a-a55c-06b9734d523a g.chr1:186097410C>A ENST00000271588.4 + 83 13120 c.12891C>A c.(12889-12891)aaC>aaA p.N4297K HMCN1_ENST00000367492.2_Missense_Mutation_p.N4297K NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4297 Ig-like C2-type 42. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CCTTCAATAACAATATTATTC 0.368 9 37 --- --- --- --- AGPS 8540 broad.mit.edu 37 2 178402827 178402827 + Silent SNP A A G TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50c8781c-f2c7-4eb3-beb6-322e4c08e79b 62240b66-a483-4a6a-a55c-06b9734d523a g.chr2:178402827A>G ENST00000264167.4 + 20 2027 c.1881A>G c.(1879-1881)ctA>ctG p.L627L AGPS_ENST00000409888.1_Silent_p.L158L NM_003659.3 NP_003650.1 O00116 ADAS_HUMAN alkylglycerone phosphate synthase 627 ether lipid biosynthetic process peroxisomal matrix|peroxisomal membrane|plasma membrane alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358) AGCAATGGCTAAAGGAAAGTA 0.393 20 79 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179629396 179629396 + Silent SNP G G A TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50c8781c-f2c7-4eb3-beb6-322e4c08e79b 62240b66-a483-4a6a-a55c-06b9734d523a g.chr2:179629396G>A ENST00000589042.1 - 42 10070 c.9846C>T c.(9844-9846)ggC>ggT p.G3282G TTN_ENST00000360870.5_Silent_p.G3282G|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.G3282G|TTN_ENST00000342175.6_Silent_p.G3236G|TTN_ENST00000359218.5_Silent_p.G3236G|TTN_ENST00000591111.1_Silent_p.G3282G|TTN_ENST00000460472.2_Silent_p.G3236G NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3011 Ig-like 19. 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) TGCACTTGAAGCCAGTGGAAA 0.502 27 124 --- --- --- --- ARAP2 116984 broad.mit.edu 37 4 36130197 36130197 + Silent SNP G G A TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50c8781c-f2c7-4eb3-beb6-322e4c08e79b 62240b66-a483-4a6a-a55c-06b9734d523a g.chr4:36130197G>A ENST00000303965.4 - 21 4087 c.3598C>T c.(3598-3600)Ctg>Ttg p.L1200L NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 1200 Rho-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TTAGTAAGCAGTGCATCATCA 0.383 13 44 --- --- --- --- TTC29 83894 broad.mit.edu 37 4 147628687 147628687 + Silent SNP G G A TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50c8781c-f2c7-4eb3-beb6-322e4c08e79b 62240b66-a483-4a6a-a55c-06b9734d523a g.chr4:147628687G>A ENST00000513335.1 - 13 1624 c.1425C>T c.(1423-1425)tcC>tcT p.S475S TTC29_ENST00000398886.4_Silent_p.S475S|TTC29_ENST00000325106.4_Silent_p.S449S Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 449 binding breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) CTTCCACTGTGGATCCTCTAA 0.328 3 30 --- --- --- --- IL6ST 3572 broad.mit.edu 37 5 55248076 55248076 + Splice_Site SNP A A C TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50c8781c-f2c7-4eb3-beb6-322e4c08e79b 62240b66-a483-4a6a-a55c-06b9734d523a g.chr5:55248076A>C ENST00000381298.2 - 12 1865 c.e12+1 IL6ST_ENST00000381287.4_Splice_Site|IL6ST_ENST00000502326.3_Splice_Site|IL6ST_ENST00000381294.3_Splice_Site|IL6ST_ENST00000522633.2_Splice_Site|IL6ST_ENST00000536319.1_Splice_Site|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000336909.5_Splice_Site NM_001190981.1|NM_002184.3|NM_175767.2 NP_001177910.1|NP_002175.2|NP_786943.1 P40189 IL6RB_HUMAN interleukin 6 signal transducer (gp130, oncostatin M receptor) interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) GTTTGGACTTACGAGCTTGTT 0.338 O hepatocellular ca 14 43 --- --- --- --- BPHL 670 broad.mit.edu 37 6 3127486 3127486 + Missense_Mutation SNP G G T TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50c8781c-f2c7-4eb3-beb6-322e4c08e79b 62240b66-a483-4a6a-a55c-06b9734d523a g.chr6:3127486G>T ENST00000380368.2 + 4 815 c.171G>T c.(169-171)gaG>gaT p.E57D BPHL_ENST00000434640.1_Missense_Mutation_p.E57D|BPHL_ENST00000380375.3_Missense_Mutation_p.E57D|BPHL_ENST00000380379.5_Missense_Mutation_p.E74D Q86WA6 BPHL_HUMAN biphenyl hydrolase-like (serine hydrolase) 74 cellular amino acid metabolic process|response to toxin mitochondrion hydrolase activity endometrium(4)|kidney(1)|large_intestine(2)|lung(6) 13 Ovarian(93;0.0386) all_hematologic(90;0.108) GAAGTGGAGAGACTGATTTTG 0.473 10 39 --- --- --- --- HIVEP1 3096 broad.mit.edu 37 6 12120756 12120756 + Missense_Mutation SNP C C T TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50c8781c-f2c7-4eb3-beb6-322e4c08e79b 62240b66-a483-4a6a-a55c-06b9734d523a g.chr6:12120756C>T ENST00000379388.2 + 4 1060 c.728C>T c.(727-729)gCc>gTc p.A243V NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 243 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TCAATGGATGCCCCAAATCAG 0.433 5 167 --- --- --- --- TRRAP 8295 broad.mit.edu 37 7 98515241 98515241 + Missense_Mutation SNP A A G TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50c8781c-f2c7-4eb3-beb6-322e4c08e79b 62240b66-a483-4a6a-a55c-06b9734d523a g.chr7:98515241A>G ENST00000359863.4 + 20 2770 c.2561A>G c.(2560-2562)gAc>gGc p.D854G TRRAP_ENST00000446306.3_Missense_Mutation_p.D853G|TRRAP_ENST00000355540.3_Missense_Mutation_p.D854G NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 854 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CTGTGTGTGGACAACCTGCAG 0.572 10 40 --- --- --- --- MUC17 140453 broad.mit.edu 37 7 100677794 100677794 + Missense_Mutation SNP C C T TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50c8781c-f2c7-4eb3-beb6-322e4c08e79b 62240b66-a483-4a6a-a55c-06b9734d523a g.chr7:100677794C>T ENST00000306151.4 + 3 3161 c.3097C>T c.(3097-3099)Cca>Tca p.P1033S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1033 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TACCAGCATGCCAACCTCAAC 0.507 5 508 --- --- --- --- SLC26A3 1811 broad.mit.edu 37 7 107431510 107431510 + Missense_Mutation SNP G G A TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50c8781c-f2c7-4eb3-beb6-322e4c08e79b 62240b66-a483-4a6a-a55c-06b9734d523a g.chr7:107431510G>A ENST00000340010.5 - 5 737 c.553C>T c.(553-555)Ctt>Ttt p.L185F SLC26A3_ENST00000422236.2_Missense_Mutation_p.L150F NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 185 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 ATTCCAGAAAGCACTGTGACT 0.493 6 28 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55591154 55591154 + Missense_Mutation SNP C C G TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50c8781c-f2c7-4eb3-beb6-322e4c08e79b 62240b66-a483-4a6a-a55c-06b9734d523a g.chr10:55591154C>G ENST00000373965.2 - 31 4538 c.4144G>C c.(4144-4146)Ggg>Cgg p.G1382R PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.G1375R|PCDH15_ENST00000409834.1_Missense_Mutation_p.G986R|PCDH15_ENST00000361849.3_Missense_Mutation_p.G1375R|PCDH15_ENST00000395433.1_Missense_Mutation_p.G1353R|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Missense_Mutation_p.G1375R|PCDH15_ENST00000437009.1_Missense_Mutation_p.G1304R|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1382R|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1338R|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1380R|PCDH15_ENST00000395430.1_Missense_Mutation_p.G1375R NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1375 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) AACAAGGCCCCTTCTGTGTAT 0.493 HNSCC(58;0.16) 5 82 --- --- --- --- DNTT 1791 broad.mit.edu 37 10 98078274 98078274 + Missense_Mutation SNP C C A TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50c8781c-f2c7-4eb3-beb6-322e4c08e79b 62240b66-a483-4a6a-a55c-06b9734d523a g.chr10:98078274C>A ENST00000419175.1 + 2 539 c.369C>A c.(367-369)caC>caA p.H123Q DNTT_ENST00000371174.2_Missense_Mutation_p.H123Q NM_001017520.1|NM_004088.3 NP_001017520.1|NP_004079.3 P04053 TDT_HUMAN DNA nucleotidylexotransferase 123 BRCT. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) CAGGAAAACACCAGCTTGTTG 0.458 10 55 --- --- --- --- CHID1 66005 broad.mit.edu 37 11 884111 884111 + Missense_Mutation SNP C C A TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50c8781c-f2c7-4eb3-beb6-322e4c08e79b 62240b66-a483-4a6a-a55c-06b9734d523a g.chr11:884111C>A ENST00000449825.1 - 9 1116 c.760G>T c.(760-762)Gat>Tat p.D254Y CHID1_ENST00000436108.2_Missense_Mutation_p.D254Y|CHID1_ENST00000528581.1_Missense_Mutation_p.D279Y|CHID1_ENST00000454838.2_Missense_Mutation_p.D279Y|CHID1_ENST00000336845.5_Missense_Mutation_p.D279Y|CHID1_ENST00000323578.8_Missense_Mutation_p.D254Y|CHID1_ENST00000323541.7_Missense_Mutation_p.D284Y|CHID1_ENST00000429789.2_Missense_Mutation_p.D223Y|CHID1_ENST00000526714.1_Intron NM_001142675.1 NP_001136147.1 Q9BWS9 CHID1_HUMAN chitinase domain containing 1 254 chitin catabolic process|innate immune response extracellular region|lysosome cation binding|chitinase activity endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 13 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735) CTGAAACCATCCAGCACGGGG 0.597 12 50 --- --- --- --- OR5D13 390142 broad.mit.edu 37 11 55541365 55541365 + Missense_Mutation SNP A A T TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50c8781c-f2c7-4eb3-beb6-322e4c08e79b 62240b66-a483-4a6a-a55c-06b9734d523a g.chr11:55541365A>T ENST00000361760.1 + 1 452 c.452A>T c.(451-453)tAt>tTt p.Y151F NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) GCTGGGTCCTATACATGGGGG 0.423 33 140 --- --- --- --- PKD1 5310 broad.mit.edu 37 16 2161025 2161025 + Silent SNP G G A TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50c8781c-f2c7-4eb3-beb6-322e4c08e79b 62240b66-a483-4a6a-a55c-06b9734d523a g.chr16:2161025G>A ENST00000262304.4 - 15 4351 c.4143C>T c.(4141-4143)ggC>ggT p.G1381G PKD1_ENST00000423118.1_Silent_p.G1381G NM_001009944.2 NP_001009944 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 1381 PKD 8. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GGGTGACGTTGCCCACCTCTG 0.667 9 49 --- --- --- --- MYH8 4626 broad.mit.edu 37 17 10302114 10302114 + Missense_Mutation SNP G G C TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50c8781c-f2c7-4eb3-beb6-322e4c08e79b 62240b66-a483-4a6a-a55c-06b9734d523a g.chr17:10302114G>C ENST00000403437.2 - 29 4046 c.3952C>G c.(3952-3954)Ctg>Gtg p.L1318V RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1318 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TGATGTTTCAGCTCTTCAATC 0.393 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 13 56 --- --- --- --- DNAH9 1770 broad.mit.edu 37 17 11522871 11522871 + Missense_Mutation SNP A A G TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50c8781c-f2c7-4eb3-beb6-322e4c08e79b 62240b66-a483-4a6a-a55c-06b9734d523a g.chr17:11522871A>G ENST00000262442.4 + 6 1191 c.1123A>G c.(1123-1125)Aat>Gat p.N375D DNAH9_ENST00000454412.2_Missense_Mutation_p.N375D NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CCAGGCCTCTAATTATCTCAG 0.433 18 81 --- --- --- --- ATPAF2 91647 broad.mit.edu 37 17 17921927 17921927 + Missense_Mutation SNP C C T TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50c8781c-f2c7-4eb3-beb6-322e4c08e79b 62240b66-a483-4a6a-a55c-06b9734d523a g.chr17:17921927C>T ENST00000474627.3 - 8 960 c.806G>A c.(805-807)gGc>gAc p.G269D ATPAF2_ENST00000585101.1_Intron NM_145691.3 NP_663729.1 Q8N5M1 ATPF2_HUMAN ATP synthase mitochondrial F1 complex assembly factor 2 269 proton-transporting ATP synthase complex assembly mitochondrion|nuclear speck protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1) 8 all_neural(463;0.228) GAAGAGGGTGCCGGCGGCGGT 0.602 19 77 --- --- --- --- ARSF 416 broad.mit.edu 37 X 3002434 3002434 + Missense_Mutation SNP A A G TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50c8781c-f2c7-4eb3-beb6-322e4c08e79b 62240b66-a483-4a6a-a55c-06b9734d523a g.chrX:3002434A>G ENST00000381127.1 + 6 778 c.557A>G c.(556-558)gAg>gGg p.E186G ARSF_ENST00000359361.2_Missense_Mutation_p.E186G|ARSF_ENST00000537104.1_Missense_Mutation_p.E186G NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 186 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TTAGCCTTTGAGAGTCAGCTC 0.532 5 34 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76855227 76855227 + Missense_Mutation SNP C C A TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50c8781c-f2c7-4eb3-beb6-322e4c08e79b 62240b66-a483-4a6a-a55c-06b9734d523a g.chrX:76855227C>A ENST00000373344.5 - 24 5974 c.5760G>T c.(5758-5760)atG>atT p.M1920I ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.M1882I NM_000489.3 NP_000480.3 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1920 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) AGCTTAAACTCATGGAGGTTT 0.328 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 11 15 --- --- --- --- KMT2E 55904 broad.mit.edu 37 7 104747889 104747890 + Frame_Shift_Del DEL AA AA - TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50c8781c-f2c7-4eb3-beb6-322e4c08e79b 62240b66-a483-4a6a-a55c-06b9734d523a g.chr7:104747889_104747890delAA ENST00000334877.4 + 22 3519_3520 c.2985_2986delAA c.(2983-2988)ataaagfs p.K996fs KMT2E_ENST00000257745.4_Frame_Shift_Del_p.K996fs|KMT2E_ENST00000311117.3_Frame_Shift_Del_p.K996fs|KMT2E_ENST00000334914.7_Frame_Shift_Del_p.K51fs lysine (K)-specific methyltransferase 2E TGCAAGAAATAAAGACTATTGG 0.406 14 58 --- --- --- --- ZMYND11 10771 broad.mit.edu 37 10 288038 288041 + Frame_Shift_Del DEL CAAT CAAT - TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50c8781c-f2c7-4eb3-beb6-322e4c08e79b 62240b66-a483-4a6a-a55c-06b9734d523a g.chr10:288038_288041delCAAT ENST00000397962.3 + 10 1337_1340 c.909_912delCAAT c.(907-912)gacaatfs p.DN303fs ZMYND11_ENST00000602682.1_Frame_Shift_Del_p.DN218fs|ZMYND11_ENST00000545619.1_Frame_Shift_Del_p.DN183fs|ZMYND11_ENST00000509513.2_Frame_Shift_Del_p.DN302fs|ZMYND11_ENST00000381591.1_Frame_Shift_Del_p.DN303fs|ZMYND11_ENST00000397959.3_Frame_Shift_Del_p.DN218fs|ZMYND11_ENST00000381584.1_Frame_Shift_Del_p.DN286fs|ZMYND11_ENST00000381602.4_Frame_Shift_Del_p.DN263fs|ZMYND11_ENST00000403354.1_Frame_Shift_Del_p.DN223fs|ZMYND11_ENST00000309776.4_Frame_Shift_Del_p.DN263fs|ZMYND11_ENST00000558098.2_Frame_Shift_Del_p.DN303fs|ZMYND11_ENST00000402736.1_Frame_Shift_Del_p.DN272fs|ZMYND11_ENST00000381607.4_Frame_Shift_Del_p.DN209fs|ZMYND11_ENST00000535374.1_Frame_Shift_Del_p.DN98fs|ZMYND11_ENST00000381604.4_Frame_Shift_Del_p.DN263fs Q15326 ZMY11_HUMAN zinc finger, MYND-type containing 11 263 cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 24 all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.132) Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106) AGAAAGAAGACAATCAAGTCGACG 0.426 15 73 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47699392 47699392 + Frame_Shift_Del DEL T T - TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50c8781c-f2c7-4eb3-beb6-322e4c08e79b 62240b66-a483-4a6a-a55c-06b9734d523a g.chr17:47699392delT ENST00000393331.3 - 5 586 c.116delA c.(115-117)aatfs p.N40fs SPOP_ENST00000503676.1_Frame_Shift_Del_p.N40fs|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_Frame_Shift_Del_p.N40fs|SPOP_ENST00000504102.1_Frame_Shift_Del_p.N40fs|SPOP_ENST00000393328.2_Frame_Shift_Del_p.N40fs NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 40 MATH. mRNA processing nucleus protein binding endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 GCTAAAGTTATTGATGGTCCA 0.368 Prostate(2;0.17) 22 61 --- --- --- ---