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 ANKRD50 57182 broad.mit.edu 37 4 125590881 125590881 + Missense_Mutation SNP A A G TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr4:125590881A>G ENST00000504087.1 - 4 4588 c.3551T>C c.(3550-3552)cTg>cCg p.L1184P ANKRD50_ENST00000515641.1_Missense_Mutation_p.L1005P NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 1184 Ser-rich. NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 TGAGCTTTTCAGGGAATTATT 0.393000 4 159 0 0 1 0 0 ZBTB11 27107 broad.mit.edu 37 3 101384637 101384637 + Missense_Mutation SNP C C T TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr3:101384637C>T ENST00000312938.4 - 4 1374 c.794G>A c.(793-795)aGc>aAc p.S265N NM_014415.3 NP_055230.2 O95625 ZBT11_HUMAN zinc finger and BTB domain containing 11 265 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 AGGAAGGAAGCTGGCCTTACA 0.323000 34 61 0 0 1 0 0 CBWD3 445571 broad.mit.edu 37 9 70871889 70871889 + Silent SNP C C T TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr9:70871889C>T ENST00000360171.6 + 5 1034 c.483C>T c.(481-483)taC>taT p.Y161Y CBWD3_ENST00000377342.5_Intron NM_201453.2 NP_958861.2 Q5JTY5 CBWD3_HUMAN COBW domain containing 3 161 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) GTGATATTTACCTTGATGGTA 0.294000 4 122 0 0 1 0 0 ZNF597 146434 broad.mit.edu 37 16 3486744 3486744 + Missense_Mutation SNP C C T TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr16:3486744C>T ENST00000301744.4 - 4 1190 c.955G>A c.(955-957)Gac>Aac p.D319N LA16c-306E5.2_ENST00000575785.1_RNA NM_152457.1 NP_689670.1 Q96LX8 ZN597_HUMAN zinc finger protein 597 319 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 13 GAGTCCTCGTCGTGGCTCTTC 0.502000 8 96 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625971 29625971 + Missense_Mutation SNP C C A rs145033899 TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr20:29625971C>A ENST00000278882.3 + 5 595 c.215C>A c.(214-216)cCa>cAa p.P72Q FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q|FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CAATGGGAACCAGTCTTTCAA 0.328000 5 169 0.0215528 0.0215528 1 1 0 ZNF786 136051 broad.mit.edu 37 7 148767777 148767777 + Missense_Mutation SNP C C T TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr7:148767777C>T ENST00000316286.9 - 3 2101 c.1829G>A c.(1828-1830)gGc>gAc p.G610D ZNF786_ENST00000451334.3_Missense_Mutation_p.G659D|ZNF786_ENST00000491431.1_Missense_Mutation_p.G696D Q8N393 ZN786_HUMAN zinc finger protein 786 696 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) TGTGTGCAGGCCCTGATGGCT 0.587000 17 278 0 0 1 0 0 CEP170B 283638 broad.mit.edu 37 14 105350539 105350539 + Missense_Mutation SNP C C T TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr14:105350539C>T ENST00000453495.1 + 9 1654 c.1426C>T c.(1426-1428)Cgg>Tgg p.R476W CEP170B_ENST00000414716.3_Missense_Mutation_p.R475W|CEP170B_ENST00000418279.1_Missense_Mutation_p.R405W|CEP170B_ENST00000556508.1_Missense_Mutation_p.R405W centrosomal protein 170B GACAGAGGAACGGCTGGGCAG 0.736000 3 4 0 0 1 0 0 BLM 641 broad.mit.edu 37 15 91310185 91310185 + Missense_Mutation SNP A A G TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr15:91310185A>G ENST00000355112.3 + 10 2357 c.2239A>G c.(2239-2241)Aca>Gca p.T747A BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Missense_Mutation_p.T747A NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 747 Helicase ATP-binding. double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) CTCAGAAGCTACAAATATTTA 0.269000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 16 90 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195511870 195511870 + Missense_Mutation SNP G G A TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr3:195511870G>A ENST00000463781.3 - 2 7040 c.6581C>T c.(6580-6582)cCt>cTt p.P2194L MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2194L|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 983 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GTCGGTGACAGGAAGAGGGGT 0.592000 3 2 0 0 1 0 0 DDX56 54606 broad.mit.edu 37 7 44613434 44613434 + Splice_Site SNP C C T TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr7:44613434C>T ENST00000258772.5 - 1 167 c.e1+1 DDX56_ENST00000431640.1_Splice_Site NM_001257189.1|NM_019082.3 NP_001244118.1|NP_061955.1 Q9NY93 DDX56_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 56 rRNA processing nucleolus ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1) 16 CTCGCGTGTACCTGAAGGAGC 0.657000 4 47 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136566483 136566483 + Missense_Mutation SNP C C T TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr2:136566483C>T ENST00000264162.2 - 8 3444 c.3434G>A c.(3433-3435)cGa>cAa p.R1145Q NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1145 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CTGCAGCATTCGGTCAGCGGC 0.562000 4 97 0 0 1 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000225576.3_Intron trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 6 91 0 0 1 0 0 ANXA5 308 broad.mit.edu 37 4 122602906 122602906 + Missense_Mutation SNP G G T TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr4:122602906G>T ENST00000296511.5 - 6 599 c.314C>A c.(313-315)aCa>aAa p.T105K ANXA5_ENST00000501272.2_Missense_Mutation_p.T45K|ANXA5_ENST00000509016.1_5'UTR|ANXA5_ENST00000515017.1_Intron NM_001154.3 NP_001145.1 P08758 ANXA5_HUMAN annexin A5 105 anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1) 15 TTTTTCATTTGTTCCAGCTCC 0.308000 41 69 1.56793e-16 1.6103e-16 1 1 0 KIAA1522 57648 broad.mit.edu 37 1 33235952 33235952 + Missense_Mutation SNP G G A TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr1:33235952G>A ENST00000401073.2 + 6 1242 c.1172G>A c.(1171-1173)cGc>cAc p.R391H KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.R343H|KIAA1522_ENST00000373480.1_Missense_Mutation_p.R332H NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 332 Ser-rich. breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) GCCTCAGTCCGCTCGCTGGGG 0.692000 3 13 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 119914768 119914768 + Missense_Mutation SNP C C T TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr7:119914768C>T ENST00000331113.4 + 1 1047 c.82C>T c.(82-84)Ccg>Tcg p.P28S NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 28 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) GGGGCCTATGCCGGCTCCCCC 0.632000 6 396 0 0 1 0 0 SSX5 6758 broad.mit.edu 37 X 48053653 48053653 + Silent SNP C C T TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chrX:48053653C>T ENST00000311798.1 - 5 367 c.315G>A c.(313-315)aaG>aaA p.K105K SSX5_ENST00000376923.1_Silent_p.K64K|SSX5_ENST00000347757.1_Silent_p.K64K NM_021015.3 NP_066295.3 O60225 SSX5_HUMAN synovial sarcoma, X breakpoint 5 64 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1) 18 GGAGGGTGGCCTTGAAACCTA 0.473000 9 93 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29855958 29855958 + Missense_Mutation SNP G G A TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr13:29855958G>A ENST00000431530.3 + 4 2850 c.2792G>A c.(2791-2793)cGc>cAc p.R931H NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 921 Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 ACAGCACCCCGCAGGAGTTTA 0.572000 6 92 0 0 1 0 0 FOLR1 2348 broad.mit.edu 37 11 71906326 71906326 + Nonsense_Mutation SNP G G A TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr11:71906326G>A ENST00000393679.1 + 3 616 c.180G>A c.(178-180)tgG>tgA p.W60* FOLR1_ENST00000393681.2_Nonsense_Mutation_p.W60*|FOLR1_ENST00000312293.4_Nonsense_Mutation_p.W60*|FOLR1_ENST00000393676.3_Nonsense_Mutation_p.W60*|RP11-807H22.7_ENST00000378140.3_RNA P15328 FOLR1_HUMAN folate receptor 1 (adult) 60 cell death|folic acid transport|receptor-mediated endocytosis anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction folic acid binding|receptor activity cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 14 GTCGACCCTGGAGGAAGAATG 0.527000 63 68 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 42 60 0 0 1 0 0 SEL1L 6400 broad.mit.edu 37 14 81945999 81945999 + Missense_Mutation SNP T T C TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr14:81945999T>C ENST00000336735.4 - 20 2248 c.2132A>G c.(2131-2133)aAa>aGa p.K711R NM_005065.5 NP_005056.3 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like (C. elegans) 711 Interaction with ERLEC1, OS9 and SYVN1. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 28 BRCA - Breast invasive adenocarcinoma(234;0.0299) GACGCCCAATTTGCAGAGGGC 0.433000 39 54 0 0 1 0 0 IL1R1 3554 broad.mit.edu 37 2 102782633 102782633 + Missense_Mutation SNP G G A TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr2:102782633G>A ENST00000410023.1 + 6 865 c.547G>A c.(547-549)Gtg>Atg p.V183M IL1R1_ENST00000409329.1_Missense_Mutation_p.V183M|IL1R1_ENST00000409929.1_Missense_Mutation_p.V183M|IL1R1_ENST00000424272.1_Missense_Mutation_p.V183M|IL1R1_ENST00000233946.3_Missense_Mutation_p.V183M|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409288.1_Missense_Mutation_p.V183M P14778 IL1R1_HUMAN interleukin 1 receptor, type I 183 Ig-like C2-type 2. innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) TAGGCTCATCGTGATGAATGT 0.388000 52 43 0 0 1 0 0 PTCHD1 139411 broad.mit.edu 37 X 23398114 23398114 + Missense_Mutation SNP C C T TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chrX:23398114C>T ENST00000379361.4 + 2 1618 c.758C>T c.(757-759)aCg>aTg p.T253M NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 253 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 TACCCTTACACGTCCTCCTCA 0.507000 8 143 0 0 1 0 0 GALNT12 79695 broad.mit.edu 37 9 101608400 101608400 + Nonsense_Mutation SNP C C T TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr9:101608400C>T ENST00000375011.3 + 9 1600 c.1600C>T c.(1600-1602)Cag>Tag p.Q534* NM_024642.4 NP_078918.3 Q8IXK2 GLT12_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) 534 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(62;0.0559) GTTCATCTTGCAGGAGGTAGG 0.527000 10 69 0 0 1 0 0 OR51E2 81285 broad.mit.edu 37 11 4703857 4703857 + Missense_Mutation SNP G G A TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr11:4703857G>A ENST00000396950.3 - 2 324 c.85C>T c.(85-87)Ccc>Tcc p.P29S NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) GAAAGGAGGGGGAAGCCAACC 0.498000 22 45 0 0 1 0 0 NEFM 4741 broad.mit.edu 37 8 24772171 24772171 + Missense_Mutation SNP G G A TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr8:24772171G>A ENST00000221166.5 + 1 1647 c.865G>A c.(865-867)Gaa>Aaa p.E289K GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000518131.1_Missense_Mutation_p.E289K|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.E289K P07197 NFM_HUMAN neurofilament, medium polypeptide 289 Linker 2.|Rod. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) GCACCAGGCCGAAGAGTGGTT 0.602000 4 48 0 0 1 0 0 SLC2A11 66035 broad.mit.edu 37 22 24217412 24217412 + Silent SNP C C T TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr22:24217412C>T ENST00000345044.6 + 4 658 c.390C>T c.(388-390)ctC>ctT p.L130L SLC2A11_ENST00000405847.1_Silent_p.L130L|SLC2A11_ENST00000398356.2_Silent_p.L137L|SLC2A11_ENST00000316185.8_Silent_p.L133L|SLC2A11_ENST00000467660.1_3'UTR|AP000350.10_ENST00000433835.3_Silent_p.L95L Q9BYW1 GTR11_HUMAN solute carrier family 2 (facilitated glucose transporter), member 11 130 integral to membrane|plasma membrane sugar transmembrane transporter activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 12 GAAGACTGCTCGTGGGAGTCA 0.448000 4 74 0 0 1 0 0 HNMT 3176 broad.mit.edu 37 2 138722122 138722122 + Missense_Mutation SNP A A G TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr2:138722122A>G ENST00000280097.3 + 1 243 c.61A>G c.(61-63)Agg>Ggg p.R21G HNMT_ENST00000485653.1_3'UTR|HNMT_ENST00000410115.1_Missense_Mutation_p.R21G|HNMT_ENST00000280096.5_Missense_Mutation_p.R21G|HNMT_ENST00000329366.4_Missense_Mutation_p.R21G NM_006895.2 NP_008826.1 P50135 HNMT_HUMAN histamine N-methyltransferase 21 respiratory gaseous exchange cytoplasm histamine N-methyltransferase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.125) Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103) ATCTTTCCGGAGGTTTCTCAA 0.448000 5 277 0 0 1 0 0 PRLR 5618 broad.mit.edu 37 5 35065444 35065444 + Missense_Mutation SNP G G A TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr5:35065444G>A ENST00000382002.5 - 10 2042 c.1616C>T c.(1615-1617)aCt>aTt p.T539I PRLR_ENST00000310101.5_Silent_p.D348D|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.T438I|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.T438I NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 539 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GTTCTCAGGAGTCCCGGGCTT 0.483000 5 129 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 58 0 0 1 0 0 GDAP2 54834 broad.mit.edu 37 1 118413222 118413222 + Missense_Mutation SNP T T C TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr1:118413222T>C ENST00000369443.4 - 14 1712 c.1463A>G c.(1462-1464)tAt>tGt p.Y488C NM_017686.3 NP_060156.1 Q9NXN4 GDAP2_HUMAN ganglioside induced differentiation associated protein 2 488 kidney(2)|large_intestine(3)|lung(9)|ovary(2) 16 all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295) Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194) ATATGATGTATAGTAAGGCCC 0.408000 7 42 0 0 1 0 0 TNKS 8658 broad.mit.edu 37 8 9563758 9563758 + Missense_Mutation SNP C C G TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr8:9563758C>G ENST00000310430.6 + 7 1290 c.1264C>G c.(1264-1266)Cta>Gta p.L422V TNKS_ENST00000518281.1_Missense_Mutation_p.L185V|TNKS_ENST00000518027.1_3'UTR|TNKS_ENST00000520408.1_Missense_Mutation_p.L422V NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 422 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) AGAACTGCTACTAAAGGTAAG 0.313000 5 120 0 0 1 0 0 FCRL3 115352 broad.mit.edu 37 1 157665283 157665283 + Missense_Mutation SNP C C T TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr1:157665283C>T ENST00000368184.3 - 8 1538 c.1247G>A c.(1246-1248)cGa>cAa p.R416Q FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.R416Q NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 416 Ig-like C2-type 5. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) ATGATAAAATCGGTACAGGAT 0.587000 5 152 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81222525 81222525 + Missense_Mutation SNP G G A TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr16:81222525G>A ENST00000599697.1 - 10 1749 c.1750C>T c.(1750-1752)Cca>Tca p.P584S PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 584 REJ. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TCATTGTCTGGCCAGCCCAGG 0.428000 5 176 0 0 1 0 0 UTP6 55813 broad.mit.edu 37 17 30207649 30207649 + Missense_Mutation SNP G G A TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr17:30207649G>A ENST00000261708.4 - 11 1047 c.910C>T c.(910-912)Cgg>Tgg p.R304W CTC-542B22.2_ENST00000583236.1_lincRNA NM_018428.2 NP_060898.2 Q9NYH9 UTP6_HUMAN UTP6, small subunit (SSU) processome component, homolog (yeast) 304 rRNA processing nucleolus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1) 21 all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231) TCCTCCTTCCGGCCGACCTCC 0.488000 52 82 0 0 1 0 0 HPS6 79803 broad.mit.edu 37 10 103825421 103825421 + Frame_Shift_Del DEL G G - TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr10:103825421delG ENST00000299238.5 + 1 275 c.190delG c.(190-192)gcfs p.G64fs NM_024747.5 NP_079023.2 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome 6 64 cytosol|early endosome membrane|endoplasmic reticulum|microsome endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1) 11 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) GCGAGGGCCCGGCGCGGAGCT 0.761 Hermansky-Pudlak syndrome 2 4 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - - G rs113730440 TCGA-S9-A7R1-01A-12D-A34J-08 TCGA-S9-A7R1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f8e448f-42f5-4726-8381-26b02990f188 943aa030-fbfc-48ce-a854-5f16cdea9290 g.chr17:26684394_26684395insG ENST00000540200.1 - 1 78 c.e1+1 POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 6 10 --- --- --- ---