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 CARD14 79092 broad.mit.edu 37 17 78178942 78178942 + Missense_Mutation SNP C C T TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr17:78178942C>T ENST00000573882.1 + 20 3043 c.2507C>T c.(2506-2508)gCg>gTg p.A836V RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA|CARD14_ENST00000344227.2_Missense_Mutation_p.A836V Q9BXL6 CAR14_HUMAN caspase recruitment domain family, member 14 836 Guanylate kinase-like. activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1) 23 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GTGCCCAGGGCGGTTGGGAAG 0.647000 8 31 0 0 1 0 0 HERC2P3 0 broad.mit.edu 37 15 20643874 20643874 + RNA SNP G G T TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr15:20643874G>T ENST00000428453.1 - 0 3585 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 GGGCAAACGTGACACGTCCGC 0.488000 25 163 2.79863e-10 2.95129e-10 1 1 0 ARMC9 80210 broad.mit.edu 37 2 232104723 232104723 + Missense_Mutation SNP C C T TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr2:232104723C>T ENST00000349938.4 + 9 1042 c.848C>T c.(847-849)gCg>gTg p.A283V ARMC9_ENST00000483477.1_3'UTR NM_001271466.1|NM_025139.3 NP_001258395.1|NP_079415.3 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 283 binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) CAGAGCCTGGCGCATAGTGTG 0.552000 8 12 0 0 1 0 0 IKZF1 10320 broad.mit.edu 37 7 50444412 50444412 + Silent SNP C C T TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr7:50444412C>T ENST00000331340.3 + 4 497 c.342C>T c.(340-342)aaC>aaT p.N114N IKZF1_ENST00000357364.4_Silent_p.N114N|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000359197.5_Silent_p.N114N|IKZF1_ENST00000439701.1_Silent_p.N114N|IKZF1_ENST00000349824.4_Silent_p.N114N|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000440768.2_Silent_p.N114N NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 114 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(131) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) GACTTCCTAACGGAAAACTAA 0.493000 """D,T""" BCL6 """ALL, DLBCL""" 8 26 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83838979 83838979 + Missense_Mutation SNP C C T TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr6:83838979C>T ENST00000349129.2 + 16 2353 c.2093C>T c.(2092-2094)tCt>tTt p.S698F DOPEY1_ENST00000237163.5_Missense_Mutation_p.S679F|DOPEY1_ENST00000369739.3_Missense_Mutation_p.S689F NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 698 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) CAGAATAACTCTTTTTCTCAG 0.418000 25 52 0 0 1 0 0 GUF1 60558 broad.mit.edu 37 4 44691372 44691372 + Missense_Mutation SNP A A C TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr4:44691372A>C ENST00000281543.5 + 10 1342 c.1148A>C c.(1147-1149)gAt>gCt p.D383A GUF1_ENST00000506793.1_3'UTR NM_021927.2 NP_068746.2 Q8N442 GUF1_HUMAN GUF1 GTPase homolog (S. cerevisiae) 383 translation mitochondrial inner membrane GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 ACTTTAAATGATTCCAGTGTG 0.398000 11 46 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83855351 83855351 + Nonsense_Mutation SNP C C T TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr6:83855351C>T ENST00000349129.2 + 25 5910 c.5650C>T c.(5650-5652)Cag>Tag p.Q1884* DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.Q1865*|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.Q1875* NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 1884 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) AGTTTTAAAGCAGCCACCAGC 0.368000 8 28 0 0 1 0 0 GABBR2 9568 broad.mit.edu 37 9 101235478 101235478 + Missense_Mutation SNP C C T TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr9:101235478C>T ENST00000259455.2 - 6 1408 c.949G>A c.(949-951)Gtg>Atg p.V317M NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 317 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) TCGAAATCCACGCCAATGTAG 0.567000 7 27 0 0 1 0 0 GRIN1 2902 broad.mit.edu 37 9 140036477 140036477 + Missense_Mutation SNP C C A TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr9:140036477C>A ENST00000371561.3 + 2 1368 c.271C>A c.(271-273)Cta>Ata p.L91I GRIN1_ENST00000371546.4_Missense_Mutation_p.L91I|GRIN1_ENST00000371550.4_Missense_Mutation_p.L91I|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371559.4_Missense_Mutation_p.L91I|GRIN1_ENST00000350902.5_Missense_Mutation_p.L91I|GRIN1_ENST00000371553.3_Missense_Mutation_p.L91I|GRIN1_ENST00000371555.4_Missense_Mutation_p.L91I|GRIN1_ENST00000315048.3_Missense_Mutation_p.L91I|GRIN1_ENST00000371560.3_Missense_Mutation_p.L91I NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 91 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CTACGCCATCCTAGTTAGCCA 0.602000 28 105 2.80507e-11 3.01285e-11 1 1 0 ARHGAP39 80728 broad.mit.edu 37 8 145830944 145830944 + Missense_Mutation SNP G G A TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr8:145830944G>A ENST00000276826.5 - 1 257 c.56C>T c.(55-57)tCg>tTg p.S19L ARHGAP39_ENST00000540274.1_Missense_Mutation_p.S19L|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.S19L Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 19 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 TGGAATCCTCGACTCCGGCAG 0.612000 23 50 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64520265 64520265 + Missense_Mutation SNP A A G TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr14:64520265A>G ENST00000358025.3 + 48 9864 c.9634A>G c.(9634-9636)Att>Gtt p.I3212V SYNE2_ENST00000554584.1_Missense_Mutation_p.I3245V|SYNE2_ENST00000344113.4_Missense_Mutation_p.I3212V|SYNE2_ENST00000357395.3_5'UTR NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 3212 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TGTGACTGCTATTGAGAAACA 0.358000 13 41 0 0 1 0 0 OTOA 146183 broad.mit.edu 37 16 21737849 21737849 + Missense_Mutation SNP G G A TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr16:21737849G>A ENST00000388958.3 + 18 1887 c.1886G>A c.(1885-1887)cGc>cAc p.R629H OTOA_ENST00000388957.3_Missense_Mutation_p.R305H|OTOA_ENST00000388956.4_Missense_Mutation_p.R550H|OTOA_ENST00000286149.4_Missense_Mutation_p.R643H NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 643 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix p.R629L(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) TCCAGGGCCCGCTACCTGGCT 0.562000 21 81 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38956916 38956916 + Missense_Mutation SNP G G A TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr19:38956916G>A ENST00000355481.4 + 24 3187 c.3056G>A c.(3055-3057)cGg>cAg p.R1019Q RYR1_ENST00000360985.3_Missense_Mutation_p.R1019Q|RYR1_ENST00000359596.3_Missense_Mutation_p.R1019Q NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1019 6 X approximate repeats.|B30.2/SPRY 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CGAAACCCTCGGCTGGTGCCC 0.672000 3 15 0 0 1 0 0 ETV3L 440695 broad.mit.edu 37 1 157068525 157068525 + Silent SNP C C T TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr1:157068525C>T ENST00000454449.2 - 3 743 c.459G>A c.(457-459)gcG>gcA p.A153A NM_001004341.2 NP_001004341.1 Q6ZN32 ETV3L_HUMAN ets variant 3-like 153 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Hepatocellular(266;0.158) Prostate(1639;0.184) CGGGCACCAGCGCTGGCCGAC 0.662000 10 45 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47144908 47144908 + Missense_Mutation SNP T T C TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr3:47144908T>C ENST00000409792.3 - 7 4887 c.4845A>G c.(4843-4845)atA>atG p.I1615M NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1615 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) GAGTGGCATCTATTATCTGGG 0.328000 """N, F, S, Mis""" clear cell renal carcinoma 3 95 0 0 1 0 0 BPIFB2 80341 broad.mit.edu 37 20 31607482 31607482 + Missense_Mutation SNP C C T rs144321606 byFrequency TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr20:31607482C>T ENST00000170150.3 + 11 1201 c.1006C>T c.(1006-1008)Cgg>Tgg p.R336W NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 336 extracellular region lipid binding CGCCACCCTGCGGCTGCAGCC 0.657000 6 8 0 0 1 0 0 KATNAL2 83473 broad.mit.edu 37 18 44579365 44579365 + Silent SNP T T C TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr18:44579365T>C ENST00000245121.5 + 2 215 c.21T>C c.(19-21)taT>taC p.Y7Y KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Silent_p.Y79Y NM_031303.2 NP_112593.2 Q8IYT4 KATL2_HUMAN katanin p60 subunit A-like 2 79 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 27 AGAGTTATTATTTTGTAAAAT 0.338000 35 121 0 0 1 0 0 LCE1E 353135 broad.mit.edu 37 1 152760036 152760036 + Silent SNP T T C TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr1:152760036T>C ENST00000368770.3 + 2 314 c.261T>C c.(259-261)cgT>cgC p.R87R LCE1E_ENST00000368771.1_Silent_p.R87R NM_178353.1 NP_848130.1 Q5T753 LCE1E_HUMAN late cornified envelope 1E 87 Cys-rich. keratinization lung(5)|stomach(1) 6 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GGTCCCACCGTCACAGACCCC 0.692000 16 47 0 0 1 0 0 RIBC1 158787 broad.mit.edu 37 X 53455599 53455599 + Missense_Mutation SNP T T G TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chrX:53455599T>G ENST00000457095.1 + 5 772 c.568T>G c.(568-570)Tca>Gca p.S190A RIBC1_ENST00000490702.1_Intron|RIBC1_ENST00000414955.2_Intron|RIBC1_ENST00000375327.3_Intron NM_144968.2 NP_659405.1 Q8N443 RIBC1_HUMAN RIB43A domain with coiled-coils 1 0 lung(2) 2 CCCTCCAGACTCAGAGACCTG 0.552000 3 8 0 0 1 0 0 C1ORF220 0 broad.mit.edu 37 1 178514690 178514690 + Missense_Mutation SNP G G A TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr1:178514690G>A ENST00000367636.4 + 2 414 c.76G>A c.(76-78)Ggc>Agc p.G26S C1orf220_ENST00000521244.1_3'UTR|C1orf220_ENST00000319387.2_3'UTR tgaaagacttggccccaagtc 0.507000 3 8 0 0 1 0 0 UGT2A3 79799 broad.mit.edu 37 4 69798438 69798438 + Missense_Mutation SNP T T A TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr4:69798438T>A ENST00000251566.4 - 3 934 c.904A>T c.(904-906)Att>Ttt p.I302F UGT2A3_ENST00000420231.2_Missense_Mutation_p.I13F NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 302 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 AACACCACAATACCATCTTCC 0.363000 44 122 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713944 142713944 + RNA SNP C C T TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr1:142713944C>T ENST00000369381.2 - 0 661 TGATTACCTCCGAAGTTAAAG 0.308000 3 22 0 0 1 0 0 ZNF205 7755 broad.mit.edu 37 16 3170290 3170290 + Silent SNP G G A TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr16:3170290G>A ENST00000382192.3 + 7 1834 c.1629G>A c.(1627-1629)gcG>gcA p.A543A RP11-473M20.14_ENST00000576490.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Silent_p.A543A NM_001278158.1|NM_003456.2 NP_001265087.1|NP_003447.2 O95201 ZN205_HUMAN zinc finger protein 205 543 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 cggcggcggcgggggcTCTGG 0.716000 6 15 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1018412 1018412 + Silent SNP G G T TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr11:1018412G>T ENST00000421673.2 - 31 4439 c.4389C>A c.(4387-4389)atC>atA p.I1463I NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1463 Pro-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGGTAGGGGTGATGACTGTGT 0.572000 5 339 0.0477658 0.0494717 1 1 0 GEMIN2 8487 broad.mit.edu 37 14 39597482 39597482 + Splice_Site SNP A A T TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr14:39597482A>T ENST00000308317.6 + 7 647 c.e7-1 GEMIN2_ENST00000250379.8_Splice_Site|GEMIN2_ENST00000396249.2_Splice_Site NM_003616.2 NP_003607.1 O14893 GEMI2_HUMAN gem (nuclear organelle) associated protein 2 ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly Cajal body|cytosol|spliceosomal complex protein binding TTTTTTTTTTAGGCAACAGTA 0.308000 4 50 0 0 1 0 0 CHSY3 337876 broad.mit.edu 37 5 129520132 129520132 + Missense_Mutation SNP A A C TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr5:129520132A>C ENST00000305031.4 + 3 1655 c.1297A>C c.(1297-1299)Aag>Cag p.K433Q CHSY3_ENST00000507545.1_3'UTR NM_175856.4 NP_787052.3 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 433 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) CCTGATGAGCAAGCTCAGTAA 0.488000 7 53 0 0 1 0 0 MALAT1 0 broad.mit.edu 37 11 65270191 65270191 + RNA SNP A A C TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr11:65270191A>C ENST00000534336.1 + 0 4959 NR_002819.2 TCCTTGGTGAATTGATAAGTA 0.363000 4 15 0 0 1 0 0 PUM1 9698 broad.mit.edu 37 1 31423093 31423093 + Missense_Mutation SNP G G C TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr1:31423093G>C ENST00000373747.3 - 17 2839 c.2740C>G c.(2740-2742)Cag>Gag p.Q914E PUM1_ENST00000373742.2_Missense_Mutation_p.Q854E|PUM1_ENST00000440538.2_Missense_Mutation_p.Q887E|PUM1_ENST00000257075.5_Missense_Mutation_p.Q913E|PUM1_ENST00000426105.2_Missense_Mutation_p.Q913E|PUM1_ENST00000424085.2_Missense_Mutation_p.Q671E|PUM1_ENST00000423018.2_Missense_Mutation_p.Q769E|PUM1_ENST00000373741.4_Missense_Mutation_p.Q949E NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 913 PUM-HD. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) GCCAGCTTCTGTTCAAGACTG 0.428000 8 35 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17083652 17083652 + RNA SNP C C T rs113710576 by1000genomes TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr1:17083652C>T ENST00000455405.2 - 0 936 aaatctcaaccttgagtacaa 0.388000 10 29 0 0 1 0 0 DAPP1 27071 broad.mit.edu 37 4 100756895 100756895 + Missense_Mutation SNP T T A TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr4:100756895T>A ENST00000296414.7 + 2 298 c.217T>A c.(217-219)Tct>Act p.S73T DAPP1_ENST00000512369.1_Missense_Mutation_p.S73T Q9UN19 DAPP1_HUMAN dual adaptor of phosphotyrosine and 3-phosphoinositides 73 SH2. signal transduction cytoplasm|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity endometrium(1)|kidney(1)|lung(4) 6 OV - Ovarian serous cystadenocarcinoma(123;7.04e-09) GTACTCTCTCTCTGTGAGGTA 0.517000 5 50 0 0 1 0 0 FXYD6 53826 broad.mit.edu 37 11 117711023 117711023 + Silent SNP C C T TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr11:117711023C>T ENST00000527429.1 - 6 326 c.270G>A c.(268-270)ccG>ccA p.P90P FXYD6_ENST00000527717.1_Intron|FXYD6_ENST00000529335.2_Intron|FXYD6_ENST00000530956.1_Intron|FXYD6-FXYD2_ENST00000532984.1_Intron|FXYD6_ENST00000584230.1_Silent_p.P90P|FXYD6_ENST00000540359.1_Intron|FXYD6_ENST00000526014.1_Intron|FXYD6_ENST00000584394.1_Intron|FXYD6_ENST00000260282.4_Intron|FXYD6_ENST00000539526.1_Intron|FXYD6_ENST00000583233.1_Intron|FXYD6_ENST00000524656.1_Intron FXYD domain containing ion transport regulator 6 central_nervous_system(1)|large_intestine(5)|lung(1)|skin(1) 8 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.89e-05)|Epithelial(105;0.00122) CAGGTGGTCACGGACAGTTAC 0.597000 15 41 0 0 1 0 0 NUB1 51667 broad.mit.edu 37 7 151046260 151046260 + Silent SNP A A T TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr7:151046260A>T ENST00000568733.1 + 3 357 c.291A>T c.(289-291)ggA>ggT p.G97G NUB1_ENST00000566856.1_Silent_p.G73G|NUB1_ENST00000355851.4_Silent_p.G73G|NUB1_ENST00000413040.2_Silent_p.G97G Q9Y5A7 NUB1_HUMAN negative regulator of ubiquitin-like proteins 1 73 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process nucleus protein binding endometrium(1)|large_intestine(7)|lung(3) 11 OV - Ovarian serous cystadenocarcinoma(82;0.00569) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) GTGGAACAGGAAATGACAATT 0.373000 18 42 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125528231 125528231 + Silent SNP G G A TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr10:125528231G>A ENST00000241305.3 - 9 1264 c.1110C>T c.(1108-1110)ccC>ccT p.P370P CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 370 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) AGTGGAACTCGGGCTCACCTT 0.567000 16 54 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155451501 155451501 + Missense_Mutation SNP C C T TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr6:155451501C>T ENST00000461783.3 + 6 2417 c.1144C>T c.(1144-1146)Cgg>Tgg p.R382W TIAM2_ENST00000456144.1_Missense_Mutation_p.R382W|TIAM2_ENST00000360366.4_Missense_Mutation_p.R382W|TIAM2_ENST00000529824.2_Missense_Mutation_p.R382W|TIAM2_ENST00000318981.5_Missense_Mutation_p.R382W|TIAM2_ENST00000367174.2_5'UTR Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 382 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) CAGGATGCGACGGATCAGTGA 0.552000 6 47 0 0 1 0 0 TANC2 26115 broad.mit.edu 37 17 61417574 61417574 + Missense_Mutation SNP G G A TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr17:61417574G>A ENST00000424789.2 + 10 1470 c.1466G>A c.(1465-1467)cGg>cAg p.R489Q TANC2_ENST00000389520.4_Missense_Mutation_p.R489Q NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 489 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 ACAGCCTATCGGGAGCAGCTT 0.552000 22 51 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48791237 48791237 + Splice_Site SNP T T A TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr15:48791237T>A ENST00000316623.5 - 18 2569 c.e18-2 NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GATATTCCGCTGCAATAAATT 0.448000 23 84 0 0 1 0 0 TROAP 10024 broad.mit.edu 37 12 49721016 49721016 + Missense_Mutation SNP G G A rs138091021 TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr12:49721016G>A ENST00000551245.1 + 8 905 c.794G>A c.(793-795)cGc>cAc p.R265H TROAP_ENST00000547923.1_5'UTR|TROAP_ENST00000257909.3_Missense_Mutation_p.R265H Q12815 TROAP_HUMAN trophinin associated protein 265 cell adhesion cytoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 32 AAAGGAGAACGCGAGGTTGTC 0.478000 25 51 0 0 1 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92459376 92459376 + Missense_Mutation SNP G G A TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr15:92459376G>A ENST00000318445.6 + 2 548 c.334G>A c.(334-336)Ggc>Agc p.G112S SLCO3A1_ENST00000424469.2_Missense_Mutation_p.G112S NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 112 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) GATCGGCTGCGGCGGCATCGT 0.692000 3 28 0 0 1 0 0 HOOK3 84376 broad.mit.edu 37 8 42828436 42828436 + Missense_Mutation SNP T T C TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr8:42828436T>C ENST00000307602.4 + 12 1327 c.1127T>C c.(1126-1128)gTa>gCa p.V376A NM_032410.3 NP_115786.1 Q86VS8 HOOK3_HUMAN hook microtubule-tethering protein 3 376 cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 31 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) TATCAGGTAGTAGAACTACAA 0.303000 T RET papillary thyroid 14 34 0 0 1 0 0 ARFGAP3 26286 broad.mit.edu 37 22 43204771 43204771 + Splice_Site SNP A A T TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr22:43204771A>T ENST00000263245.5 - 13 1540 c.e13+1 ARFGAP3_ENST00000437119.2_Splice_Site|ARFGAP3_ENST00000429508.2_Splice_Site NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 CTGGACCCTTACATCAGCCTG 0.493000 25 76 0 0 1 0 0 AQP9 366 broad.mit.edu 37 15 58465296 58465296 + Missense_Mutation SNP G G A TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr15:58465296G>A ENST00000219919.4 + 3 638 c.268G>A c.(268-270)Gca>Aca p.A90T ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.A90T|AQP9_ENST00000558772.1_Missense_Mutation_p.A25T NM_020980.3 NP_066190.2 O43315 AQP9_HUMAN aquaporin 9 90 cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1) 21 GBM - Glioblastoma multiforme(80;0.16) TGTGTCTTTAGCAATGTGTCT 0.478000 37 118 0 0 1 0 0 GSN 2934 broad.mit.edu 37 9 124072998 124072998 + Missense_Mutation SNP C C T TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr9:124072998C>T ENST00000373823.3 + 12 1293 c.388C>T c.(388-390)Ccc>Tcc p.P130S GSN_ENST00000545652.1_Missense_Mutation_p.P138S|GSN_ENST00000373818.4_Missense_Mutation_p.P181S|GSN_ENST00000412819.1_Missense_Mutation_p.P130S|GSN_ENST00000373808.2_Missense_Mutation_p.P130S|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000436847.1_Missense_Mutation_p.P141S|GSN_ENST00000341272.2_Missense_Mutation_p.P130S|GSN_ENST00000394353.2_Missense_Mutation_p.P141S|GSN_ENST00000449733.1_Missense_Mutation_p.P130S P06396 GELS_HUMAN gelsolin 181 Actin-severing (Potential). actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1) 21 GCACGTGGTACCCAACGAGGT 0.577000 8 16 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22940373 22940373 + Missense_Mutation SNP T T C TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr19:22940373T>C ENST00000397104.3 - 5 2064 c.2065A>G c.(2065-2067)Aag>Gag p.K689E ZNF99_ENST00000596209.1_Missense_Mutation_p.K780E zinc finger protein 99 p.K689E(3) NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TGAATTATCTTATGTTTTCTA 0.343000 4 56 0 0 1 0 0 CAMKMT 79823 broad.mit.edu 37 2 44599893 44599893 + Missense_Mutation SNP T T A TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr2:44599893T>A ENST00000378494.3 + 2 221 c.177T>A c.(175-177)caT>caA p.H59Q CAMKMT_ENST00000407131.1_Missense_Mutation_p.H59Q|CAMKMT_ENST00000402247.1_Missense_Mutation_p.H59Q|CAMKMT_ENST00000403853.3_Missense_Mutation_p.H59Q|CAMKMT_ENST00000477623.1_Intron NM_024766.3 NP_079042.1 Q7Z624 CMKMT_HUMAN calmodulin-lysine N-methyltransferase 59 cytoplasm calmodulin-lysine N-methyltransferase activity breast(2)|large_intestine(3)|lung(5) 10 GCCTGCGACATGTATCTGTAA 0.358000 17 51 0 0 1 0 0 AHCYL1 10768 broad.mit.edu 37 1 110563392 110563392 + Missense_Mutation SNP C C T TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr1:110563392C>T ENST00000369799.5 + 16 1872 c.1505C>T c.(1504-1506)gCc>gTc p.A502V AHCYL1_ENST00000393614.4_Missense_Mutation_p.A455V|AHCYL1_ENST00000359172.3_Missense_Mutation_p.A455V NM_001242673.1|NM_001242674.1|NM_006621.5 NP_001229602.1|NP_001229603.1|NP_006612.2 O43865 SAHH2_HUMAN adenosylhomocysteinase-like 1 502 one-carbon metabolic process endoplasmic reticulum adenosylhomocysteinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2) 18 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143) TCATTTGATGCCCACCTTACA 0.433000 4 153 0 0 1 0 0 AE000661.37 0 broad.mit.edu 37 14 22951915 22951915 + RNA SNP G G A TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr14:22951915G>A ENST00000514473.2 - 0 33 TTGAGCAATCGTGACTATATT 0.443000 3 14 0 0 1 0 0 C6orf89 221477 broad.mit.edu 37 6 36887390 36887390 + Missense_Mutation SNP G G A TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr6:36887390G>A ENST00000480824.2 + 8 1156 c.862G>A c.(862-864)Ggt>Agt p.G288S C6orf89_ENST00000510325.2_Missense_Mutation_p.G182S|C6orf89_ENST00000373685.1_Missense_Mutation_p.G288S|C6orf89_ENST00000355190.3_Missense_Mutation_p.G295S|C6orf89_ENST00000359359.2_Missense_Mutation_p.G182S Q6UWU4 CF089_HUMAN chromosome 6 open reading frame 89 288 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 15 CATTGGCAGCGGTGAGGCCAT 0.512000 35 67 0 0 1 0 0 KBTBD4 55709 broad.mit.edu 37 11 47599133 47599133 + Missense_Mutation SNP C C T TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr11:47599133C>T ENST00000533290.1 - 1 1208 c.494G>A c.(493-495)cGc>cAc p.R165H KBTBD4_ENST00000526005.1_Missense_Mutation_p.R140H|KBTBD4_ENST00000525720.1_Missense_Mutation_p.R189H|KBTBD4_ENST00000430070.2_Missense_Mutation_p.R156H|KBTBD4_ENST00000395288.2_Missense_Mutation_p.R140H|NDUFS3_ENST00000533507.1_Intron Q9NVX7 KBTB4_HUMAN kelch repeat and BTB (POZ) domain containing 4 140 BACK. p.R140H(2) NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 24 TTGCACTGTGCGGGCCAAAAA 0.517000 4 148 0 0 1 0 0 ARHGEF28 64283 broad.mit.edu 37 5 73183506 73183506 + Splice_Site DEL T T - TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr5:73183506delT ENST00000545377.1 + 26 3563 c.e26+2 ARHGEF28_ENST00000296799.4_Splice_Site|ARHGEF28_ENST00000426542.2_Splice_Site|ARHGEF28_ENST00000513042.2_Splice_Site|ARHGEF28_ENST00000287898.5_Splice_Site|ARHGEF28_ENST00000296794.6_Splice_Site|ARHGEF28_ENST00000437974.1_Splice_Site|ARHGEF28_ENST00000512883.1_Splice_Site NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 GCAGCCGTTGTAAGTATATGA 0.308 2 4 --- --- --- --- RP11-1252I4.2 0 broad.mit.edu 37 5 177398373 177398396 + RNA DEL AGGACGAAGAGCTGGAGAGCGCCA AGGACGAAGAGCTGGAGAGCGCCA - rs70994948 TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA ENST00000511650.1 + 0 145 GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA 0.683 2 4 --- --- --- --- KIF13B 23303 broad.mit.edu 37 8 28928273 28928273 + Frame_Shift_Del DEL G G - TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr8:28928273delG ENST00000524189.1 - 40 5267 c.5229delC c.(5227-5229)gafs p.D1743fs KIF13B_ENST00000404075.3_Frame_Shift_Del_p.D262fs NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 1743 CAP-Gly. microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) CGATGGAACCGTCATTCTTAC 0.672 2 4 --- --- --- --- IGHV4OR15-8 0 broad.mit.edu 37 15 22473095 22473096 + RNA INS - - G TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr15:22473095_22473096insG ENST00000557788.2 - 0 174_175 CCCTGGGGGCTGGCGGACCCAG 0.594 8 241 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 8 54 --- --- --- --- ERF 2077 broad.mit.edu 37 19 42754061 42754061 + Frame_Shift_Del DEL G G - TCGA-V1-A9ZR-01A-11D-A41K-08 TCGA-V1-A9ZR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1161c64b-4a41-4fce-a9d4-73d4f091c044 a78aaabf-765f-422c-80b1-597ef3a0c26d g.chr19:42754061delG ENST00000222329.4 - 3 448 c.291delC c.(289-291)acfs p.T97fs ERF_ENST00000440177.2_Frame_Shift_Del_p.T22fs|AC006486.9_ENST00000594664.1_Intron NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 97 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) GTTTCCCCTTGGTCTTGTGCA 0.483 34 108 --- --- --- ---