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 OR4C6 219432 broad.mit.edu 37 11 55432991 55432991 + Missense_Mutation SNP G G C TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr11:55432991G>C uc010rik.2 + 0 349 c.349G>C c.(349-351)Gcc>Ccc p.A117P NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA. 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 CACTGTGATGGCCTATGACCG 0.567000 3 98 0 0 1 0 0 SSTR2 6752 broad.mit.edu 37 17 71166132 71166132 + Missense_Mutation SNP G G T TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr17:71166132G>T uc002jje.3 + 1 1034 c.674G>T c.(673-675)tGt>tTt p.C225F SSTR2_uc021ucm.1_Missense_Mutation_p.C225F NM_001050 NP_001041 P30874 SSR2_HUMAN Homo sapiens somatostatin receptor 2 (SSTR2), mRNA. 225 digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane PDZ domain binding|somatostatin receptor activity endometrium(2)|large_intestine(5)|lung(2)|prostate(2) 11 LUSC - Lung squamous cell carcinoma(166;0.197) ACCATCATCTGTCTTTGCTAC 0.502000 18 145 0 0 1 0 0 ALS2CR12 130540 broad.mit.edu 37 2 202216069 202216069 + Missense_Mutation SNP C C T rs142397497 TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr2:202216069C>T uc010ftg.3 - 1 503 c.59G>A c.(58-60)cGg>cAg p.R20Q ALS2CR12_uc002uya.4_Missense_Mutation_p.R20Q|ALS2CR12_uc010fth.3_Non-coding_Transcript NM_139163 NP_631902 Q96Q35 AL2SB_HUMAN Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 (ALS2CR12), transcript variant 1, mRNA. 20 regulation of GTPase activity protein binding p.R20Q(2) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2) 21 GATTAGCTTCCGTGGTCCCAA 0.557000 25 49 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3008978 3008978 + Missense_Mutation SNP G G T TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr8:3008978G>T uc022aqr.1 - 39 6362 c.5972C>A c.(5971-5973)cCa>cAa p.P1991Q CSMD1_uc011kwj.2_Missense_Mutation_p.P1384Q|CSMD1_uc003wqe.3_Missense_Mutation_p.P1148Q|CSMD1_uc010lrg.3_Missense_Mutation_p.P60Q NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1992 CUB 12. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTAAGAACCTGGGAAGCCGGG 0.488000 10 28 0 0 1 0 0 IP6K2 51447 broad.mit.edu 37 3 48732456 48732456 + Missense_Mutation SNP C C A TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr3:48732456C>A uc011bbv.2 - 2 866 c.443G>T c.(442-444)aGg>aTg p.R148M IP6K2_uc003cuq.3_Intron|IP6K2_uc003cup.3_Intron|IP6K2_uc011bbs.2_Intron|IP6K2_uc003cut.3_Intron|IP6K2_uc003cus.3_Intron|IP6K2_uc003cur.3_Intron|IP6K2_uc011bbu.2_Missense_Mutation_p.R144M|IP6K2_uc011bbr.2_Intron|IP6K2_uc011bbt.2_Missense_Mutation_p.R145M|IP6K2_uc011bbq.2_Intron NM_001190317 NP_001177246 Q9UHH9 IP6K2_HUMAN Homo sapiens inositol hexakisphosphate kinase 2 (IP6K2), transcript variant 10, mRNA. 177 negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway intermediate filament cytoskeleton|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 15 CTGCCAGGGCCTTCCATGGCC 0.607000 13 24 0 0 1 0 0 UGT2A1 10941 broad.mit.edu 37 4 70505028 70505028 + Missense_Mutation SNP G G T TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr4:70505028G>T uc011caq.2 - 2 1050 c.934C>A c.(934-936)Ctc>Atc p.L312I UGT2A1_uc010ihu.3_Intron|UGT2A1_uc003hem.4_Intron|UGT2A1_uc010ihs.3_Missense_Mutation_p.L111I|UGT2A1_uc021xox.1_Missense_Mutation_p.L111I|UGT2A1_uc010iht.3_Intron NM_001252274 NP_001239203 Q9Y4X1 UD2A1_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA. 102 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 CATATTGTGAGAGGAGTTGGT 0.353000 4 73 0 0 1 0 0 POLR3C 10623 broad.mit.edu 37 1 145608142 145608142 + Missense_Mutation SNP C C A TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr1:145608142C>A uc001eog.3 - 3 637 c.594G>T c.(592-594)aaG>aaT p.K198N RNF115_uc001eoj.3_5'Flank|POLR3C_uc001eoh.3_Missense_Mutation_p.K185N|POLR3C_uc009wix.3_Missense_Mutation_p.K185N NM_006468 NP_006459 Q9BUI4 RPC3_HUMAN Homo sapiens polymerase (RNA) III (DNA directed) polypeptide C (62kD) (POLR3C), mRNA. 185 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity p.K185N(1) breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) GGTACATGTCCTTTTCATTAA 0.468000 4 135 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73828375 73828375 + Missense_Mutation SNP A A T TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr2:73828375A>T uc002sje.1 + 18 12034 c.11923A>T c.(11923-11925)Aac>Tac p.N3975Y ALMS1_uc002sjf.1_Missense_Mutation_p.N3933Y|ALMS1_uc002sjh.1_Missense_Mutation_p.N3363Y NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA. 3975 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole p.N3975N(1) breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 AAAGAAGGAAAACGTGCCTAA 0.468000 6 203 0 0 1 0 0 NR3C2 4306 broad.mit.edu 37 4 149075797 149075797 + Nonsense_Mutation SNP G G C TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr4:149075797G>C uc003ilj.4 - 4 2633 c.2270C>G c.(2269-2271)tCa>tGa p.S757* NR3C2_uc003ilk.4_Intron|NR3C2_uc010iph.3_Intron NM_000901 NP_000892 P08235 MCR_HUMAN Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA. 757 Steroid-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding p.S756C(1) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) ATCTGGTTTTGAGCTGTCATA 0.493000 4 215 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14059320 14059320 + Silent SNP A A G TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr1:14059320A>G uc001avi.3 + 3 1030 c.174A>G c.(172-174)ccA>ccG p.P58P PRDM2_uc001avg.3_Silent_p.P58P|PRDM2_uc001avh.3_Silent_p.P58P NM_012231 NP_036363 Q13029 PRDM2_HUMAN Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA. 58 SET. Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) AATTTGGGCCATTTGTTGGTG 0.289000 3 59 0 0 1 0 0 KLHL14 57565 broad.mit.edu 37 18 30349946 30349946 + Silent SNP C C T TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr18:30349946C>T uc002kxm.1 - 1 997 c.609G>A c.(607-609)aaG>aaA p.K203K NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA. 203 cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 TGTTGGCCAGCTTCTTGGTCT 0.627000 4 114 0 0 1 0 0 TSPAN33 340348 broad.mit.edu 37 7 128801563 128801563 + Missense_Mutation SNP T T C TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr7:128801563T>C uc003vop.2 + 1 255 c.146T>C c.(145-147)cTa>cCa p.L49P NM_178562 NP_848657 Q86UF1 TSN33_HUMAN Homo sapiens tetraspanin 33 (TSPAN33), mRNA. 49 integral to membrane NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 TACGCTCGGCTAATGAAGCAT 0.572000 3 175 0 0 1 0 0 HACE1 57531 broad.mit.edu 37 6 105198273 105198273 + Missense_Mutation SNP C C A TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr6:105198273C>A uc003pqu.1 - 19 2563 c.2286G>T c.(2284-2286)caG>caT p.Q762H HACE1_uc010kcy.1_Missense_Mutation_p.Q244H|HACE1_uc010kcz.1_Missense_Mutation_p.Q547H|HACE1_uc010kcx.1_Missense_Mutation_p.Q171H|HACE1_uc003pqt.1_Missense_Mutation_p.Q415H NM_020771 NP_065822 Q8IYU2 HACE1_HUMAN Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA. 762 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 44 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) TATGAAAGCCCTGTAAAAAAG 0.383000 3 43 0 0 1 0 0 POU2F2 5452 broad.mit.edu 37 19 42603703 42603703 + Missense_Mutation SNP C C A TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr19:42603703C>A uc002osp.3 - 6 539 c.477G>T c.(475-477)caG>caT p.Q159H POU2F2_uc002osn.3_Missense_Mutation_p.Q159H|POU2F2_uc002osq.3_Missense_Mutation_p.Q159H|POU2F2_uc002osr.2_Missense_Mutation_p.Q159H NM_001207025 NP_001193954 P09086 PO2F2_HUMAN Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA. 159 humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(69;0.059) CGGCCCGGGGCTGGGAGGTCA 0.607000 14 32 0 0 1 0 0 INTU 27152 broad.mit.edu 37 4 128627849 128627850 + Frame_Shift_Ins INS - - A TCGA-EM-A3AN-01A-11D-A202-08 TCGA-EM-A3AN-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030 3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6 g.chr4:128627849_128627850insA uc003ifk.2 + 11 2099_2100 c.1996_1997insA c.(1996-1998)gaafs p.E666fs INTU_uc011cgq.2_Non-coding_Transcript NM_015693 NP_056508 Q9ULD6 PDZD6_HUMAN Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA. 666 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 TGGATCACGTGAAAAAACAGAT 0.465 40 87 --- --- --- ---