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 SAMD9L 219285 broad.mit.edu 37 7 92764069 92764069 + Nonsense_Mutation SNP G G A rs150070697 byFrequency TCGA-EJ-A46E-01A-31D-A257-08 TCGA-EJ-A46E-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3471f90f-e293-45d1-a6cf-4927be485fd9 757ae720-46cc-4388-a24f-5c8ab52e12f4 g.chr7:92764069G>A ENST00000318238.4 - 5 2432 c.1216C>T c.(1216-1218)Cga>Tga p.R406* SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.R406*|SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.R406* NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 406 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) AGTGAGTCTCGGTTTCCTATG 0.353000 13 174 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625971 29625971 + Missense_Mutation SNP C C A rs145033899 TCGA-EJ-A46E-01A-31D-A257-08 TCGA-EJ-A46E-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3471f90f-e293-45d1-a6cf-4927be485fd9 757ae720-46cc-4388-a24f-5c8ab52e12f4 g.chr20:29625971C>A ENST00000278882.3 + 5 595 c.215C>A c.(214-216)cCa>cAa p.P72Q FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q|FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CAATGGGAACCAGTCTTTCAA 0.328000 6 102 0.00198382 0.00213077 1 1 0 SYT13 57586 broad.mit.edu 37 11 45274253 45274253 + Missense_Mutation SNP C C T TCGA-EJ-A46E-01A-31D-A257-08 TCGA-EJ-A46E-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3471f90f-e293-45d1-a6cf-4927be485fd9 757ae720-46cc-4388-a24f-5c8ab52e12f4 g.chr11:45274253C>T ENST00000020926.3 - 4 676 c.565G>A c.(565-567)Gga>Aga p.G189R NM_001247987.1|NM_020826.2 NP_001234916.1|NP_065877.1 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 189 C2 1. transport vesicle breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2) 23 TCACAGCCTCCGTCGTGGTTG 0.602000 OREG0020928 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 79 0 0 1 0 0 STEAP2 261729 broad.mit.edu 37 7 89856643 89856643 + Missense_Mutation SNP A A G rs138124501 byFrequency TCGA-EJ-A46E-01A-31D-A257-08 TCGA-EJ-A46E-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3471f90f-e293-45d1-a6cf-4927be485fd9 757ae720-46cc-4388-a24f-5c8ab52e12f4 g.chr7:89856643A>G ENST00000287908.3 + 3 1244 c.851A>G c.(850-852)tAc>tGc p.Y284C STEAP2_ENST00000394621.2_Missense_Mutation_p.Y284C|STEAP2_ENST00000394632.1_Missense_Mutation_p.Y284C|STEAP2_ENST00000402625.2_Missense_Mutation_p.Y284C|STEAP2_ENST00000394629.2_Missense_Mutation_p.Y284C|STEAP2_ENST00000394622.2_Missense_Mutation_p.Y284C|STEAP2_ENST00000394626.1_Missense_Mutation_p.Y284C NM_001244944.1|NM_152999.3 NP_001231873.1|NP_694544.2 Q8NFT2 STEA2_HUMAN STEAP family member 2, metalloreductase 284 Ferric oxidoreductase. electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 all_hematologic(106;0.112) CAACTTTATTACGGCACCAAG 0.408000 8 85 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58062900 58062900 + Silent SNP G G A TCGA-EJ-A46E-01A-31D-A257-08 TCGA-EJ-A46E-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3471f90f-e293-45d1-a6cf-4927be485fd9 757ae720-46cc-4388-a24f-5c8ab52e12f4 g.chr3:58062900G>A ENST00000357272.4 + 2 585 c.420G>A c.(418-420)acG>acA p.T140T FLNB_ENST00000348383.5_Silent_p.T140T|FLNB_ENST00000295956.4_Silent_p.T140T|FLNB_ENST00000429972.2_Silent_p.T140T|FLNB_ENST00000358537.3_Silent_p.T140T|FLNB_ENST00000490882.1_Silent_p.T140T O75369 FLNB_HUMAN filamin B, beta 140 Actin-binding.|CH 2. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) AGAAGCAGACGCCAAAGCAGA 0.557000 4 76 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10088375 10088375 + Silent SNP G G T TCGA-EJ-A46E-01A-31D-A257-08 TCGA-EJ-A46E-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3471f90f-e293-45d1-a6cf-4927be485fd9 757ae720-46cc-4388-a24f-5c8ab52e12f4 g.chr19:10088375G>T ENST00000264828.3 - 42 3106 c.3021C>A c.(3019-3021)ggC>ggA p.G1007G NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1007 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CACCAGGGGAGCCCTGAGAAC 0.572000 4 16 0.00909568 0.00909568 1 1 0 FGF16 8823 broad.mit.edu 37 X 76711785 76711785 + Missense_Mutation SNP A A T TCGA-EJ-A46E-01A-31D-A257-08 TCGA-EJ-A46E-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3471f90f-e293-45d1-a6cf-4927be485fd9 757ae720-46cc-4388-a24f-5c8ab52e12f4 g.chrX:76711785A>T ENST00000439435.1 + 2 122 c.122A>T c.(121-123)aAt>aTt p.N41I O43320 FGF16_HUMAN fibroblast growth factor 16 0 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus extracellular space growth factor activity NS(1)|breast(1)|lung(2) 4 TCACACGTGAATGTGTTTTCC 0.423000 4 70 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661478 22661478 + RNA SNP T T G TCGA-EJ-A46E-01A-31D-A257-08 TCGA-EJ-A46E-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3471f90f-e293-45d1-a6cf-4927be485fd9 757ae720-46cc-4388-a24f-5c8ab52e12f4 g.chr22:22661478T>G ENST00000426066.1 + 0 368 NR_027293.1 CAGATGCGTCTGAAGAAACAT 0.488000 4 77 0 0 1 0 0 CASC5 57082 broad.mit.edu 37 15 40917081 40917081 + Missense_Mutation SNP G G A TCGA-EJ-A46E-01A-31D-A257-08 TCGA-EJ-A46E-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3471f90f-e293-45d1-a6cf-4927be485fd9 757ae720-46cc-4388-a24f-5c8ab52e12f4 g.chr15:40917081G>A ENST00000346991.5 + 11 5087 c.4697G>A c.(4696-4698)gGa>gAa p.G1566E CASC5_ENST00000399668.2_Missense_Mutation_p.G1540E Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 1566 acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) GTCAATGCTGGAGAAGCACCA 0.343000 4 38 0 0 1 0 0 OR4A5 81318 broad.mit.edu 37 11 51411634 51411634 + Missense_Mutation SNP T T C rs143887524 byFrequency TCGA-EJ-A46E-01A-31D-A257-08 TCGA-EJ-A46E-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3471f90f-e293-45d1-a6cf-4927be485fd9 757ae720-46cc-4388-a24f-5c8ab52e12f4 g.chr11:51411634T>C ENST00000319760.6 - 1 814 c.762A>G c.(760-762)atA>atG p.I254M NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 254 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) GTCTAACATATATGAAAATAC 0.388000 4 80 0 0 1 0 0 SRPX2 27286 broad.mit.edu 37 X 99917332 99917332 + Missense_Mutation SNP G G A TCGA-EJ-A46E-01A-31D-A257-08 TCGA-EJ-A46E-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3471f90f-e293-45d1-a6cf-4927be485fd9 757ae720-46cc-4388-a24f-5c8ab52e12f4 g.chrX:99917332G>A ENST00000373004.3 + 4 751 c.323G>A c.(322-324)aGc>aAc p.S108N NM_014467.2 NP_055282.1 O60687 SRPX2_HUMAN sushi-repeat containing protein, X-linked 2 108 Sushi 1. angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation cytoplasm|extracellular region receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1) 19 TGCCTGCCAAGCCGTCGTTGG 0.557000 6 91 0 0 1 0 0 CTC-338M12.9 0 broad.mit.edu 37 5 180708776 180708777 + RNA INS - - G rs140221514 TCGA-EJ-A46E-01A-31D-A257-08 TCGA-EJ-A46E-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3471f90f-e293-45d1-a6cf-4927be485fd9 757ae720-46cc-4388-a24f-5c8ab52e12f4 g.chr5:180708776_180708777insG ENST00000412295.2 + 0 238 gggcggtaggagggggctggag 0.728 5 4 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-EJ-A46E-01A-31D-A257-08 TCGA-EJ-A46E-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3471f90f-e293-45d1-a6cf-4927be485fd9 757ae720-46cc-4388-a24f-5c8ab52e12f4 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 6 7 --- --- --- ---