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 AGPS 8540 broad.mit.edu 37 2 178386036 178386036 + Silent SNP C C T TCGA-KK-A8I8-01A-11D-A364-08 TCGA-KK-A8I8-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d7021e-f0da-44fb-8f6c-5bcd2c433a0e fe39a0c2-56d9-445c-ab4b-744d4d21f8c2 g.chr2:178386036C>T ENST00000264167.4 + 18 1883 c.1737C>T c.(1735-1737)ttC>ttT p.F579F AGPS_ENST00000409888.1_Intron NM_003659.3 NP_003650.1 O00116 ADAS_HUMAN alkylglycerone phosphate synthase 579 ether lipid biosynthetic process peroxisomal matrix|peroxisomal membrane|plasma membrane alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358) GTATCTACTTCTATTTTGCCT 0.388 33 75 --- --- --- --- CCSER1 401145 broad.mit.edu 37 4 91229784 91229784 + Missense_Mutation SNP G G T TCGA-KK-A8I8-01A-11D-A364-08 TCGA-KK-A8I8-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d7021e-f0da-44fb-8f6c-5bcd2c433a0e fe39a0c2-56d9-445c-ab4b-744d4d21f8c2 g.chr4:91229784G>T ENST00000509176.1 + 2 637 c.349G>T c.(349-351)Gtt>Ttt p.V117F CCSER1_ENST00000432775.2_Missense_Mutation_p.V117F|CCSER1_ENST00000333691.8_Missense_Mutation_p.V117F NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 AAGACATTCTGTTGGTTTTAG 0.363 3 46 --- --- --- --- SAMD9 54809 broad.mit.edu 37 7 92735120 92735120 + Silent SNP T T C TCGA-KK-A8I8-01A-11D-A364-08 TCGA-KK-A8I8-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d7021e-f0da-44fb-8f6c-5bcd2c433a0e fe39a0c2-56d9-445c-ab4b-744d4d21f8c2 g.chr7:92735120T>C ENST00000379958.2 - 3 560 c.291A>G c.(289-291)aaA>aaG p.K97K NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 97 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) CAGTTTGGTCTTTAGGAGCAT 0.378 68 166 --- --- --- --- CDH23 64072 broad.mit.edu 37 10 73437354 73437354 + Missense_Mutation SNP G G T TCGA-KK-A8I8-01A-11D-A364-08 TCGA-KK-A8I8-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d7021e-f0da-44fb-8f6c-5bcd2c433a0e fe39a0c2-56d9-445c-ab4b-744d4d21f8c2 g.chr10:73437354G>T ENST00000224721.6 + 15 1676 c.1671G>T c.(1669-1671)ttG>ttT p.L557F CDH23_ENST00000299366.7_Missense_Mutation_p.L597F NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 552 Cadherin 5. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 TCAATGTGTTGGATGTCAACG 0.617 9 7 --- --- --- --- TIGD3 220359 broad.mit.edu 37 11 65123573 65123573 + Silent SNP G G A TCGA-KK-A8I8-01A-11D-A364-08 TCGA-KK-A8I8-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d7021e-f0da-44fb-8f6c-5bcd2c433a0e fe39a0c2-56d9-445c-ab4b-744d4d21f8c2 g.chr11:65123573G>A ENST00000309880.5 + 2 501 c.294G>A c.(292-294)acG>acA p.T98T NM_145719.2 NP_663771.1 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 98 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2) 17 GGGACGTGACGGGGCCCATGC 0.642 25 39 --- --- --- --- ANKRD52 283373 broad.mit.edu 37 12 56646642 56646642 + Missense_Mutation SNP T T C TCGA-KK-A8I8-01A-11D-A364-08 TCGA-KK-A8I8-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d7021e-f0da-44fb-8f6c-5bcd2c433a0e fe39a0c2-56d9-445c-ab4b-744d4d21f8c2 g.chr12:56646642T>C ENST00000267116.7 - 12 1344 c.1223A>G c.(1222-1224)cAt>cGt p.H408R NM_173595.3 NP_775866.2 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 408 protein binding endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1) 29 TGAAAGCACATGCTCATTGCT 0.522 13 19 --- --- --- --- NID2 22795 broad.mit.edu 37 14 52508861 52508861 + Nonsense_Mutation SNP A A T TCGA-KK-A8I8-01A-11D-A364-08 TCGA-KK-A8I8-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d7021e-f0da-44fb-8f6c-5bcd2c433a0e fe39a0c2-56d9-445c-ab4b-744d4d21f8c2 g.chr14:52508861A>T ENST00000216286.5 - 7 1786 c.1787T>A c.(1786-1788)tTa>tAa p.L596* NID2_ENST00000541773.1_Nonsense_Mutation_p.L543* NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 596 Nidogen G2 beta-barrel. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) AGGTTTTTCTAAAGCAAAGAG 0.602 37 69 --- --- --- --- HSP90AA1 3320 broad.mit.edu 37 14 102548543 102548543 + Nonsense_Mutation SNP A A T TCGA-KK-A8I8-01A-11D-A364-08 TCGA-KK-A8I8-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d7021e-f0da-44fb-8f6c-5bcd2c433a0e fe39a0c2-56d9-445c-ab4b-744d4d21f8c2 g.chr14:102548543A>T ENST00000334701.7 - 11 2641 c.2360T>A c.(2359-2361)tTg>tAg p.L787* HSP90AA1_ENST00000216281.8_Nonsense_Mutation_p.L665* NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 665 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) TTCATAAAGCAAGATGACCAG 0.458 42 115 --- --- --- --- MATN4 8785 broad.mit.edu 37 20 43929859 43929859 + Missense_Mutation SNP C C A TCGA-KK-A8I8-01A-11D-A364-08 TCGA-KK-A8I8-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d7021e-f0da-44fb-8f6c-5bcd2c433a0e fe39a0c2-56d9-445c-ab4b-744d4d21f8c2 g.chr20:43929859C>A ENST00000537548.1 - 6 1016 c.772G>T c.(772-774)Gac>Tac p.D258Y MATN4_ENST00000342716.4_Missense_Mutation_p.D258Y|MATN4_ENST00000353917.5_Intron|MATN4_ENST00000372754.1_Missense_Mutation_p.D299Y|MATN4_ENST00000360607.6_Missense_Mutation_p.D217Y|MATN4_ENST00000372751.4_Missense_Mutation_p.D109Y|MATN4_ENST00000372756.1_Missense_Mutation_p.D258Y O95460 MATN4_HUMAN matrilin 4 299 EGF-like 2. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) CTGCAGTAGTCAATGGCTGGC 0.592 OREG0025977 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 86 --- --- --- ---