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 GYS2 2998 broad.mit.edu 37 12 21733368 21733368 + Missense_Mutation SNP C C G TCGA-CE-A485-01A-11D-A23U-08 TCGA-CE-A485-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe9ef6b-c371-4ed7-b315-29b1b3c5bd24 ec6d75c4-498a-466c-b267-7c73295b1b66 g.chr12:21733368C>G ENST00000261195.2 - 2 465 c.211G>C c.(211-213)Gag>Cag p.E71Q NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 71 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 ATATTATGCTCAAAATATGGA 0.423000 7 63 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813356 106813356 + Missense_Mutation SNP A A G TCGA-CE-A485-01A-11D-A23U-08 TCGA-CE-A485-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe9ef6b-c371-4ed7-b315-29b1b3c5bd24 ec6d75c4-498a-466c-b267-7c73295b1b66 g.chr8:106813356A>G ENST00000407775.2 + 8 1296 c.1046A>G c.(1045-1047)aAc>aGc p.N349S RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.N217S|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.N80S|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.N217S|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 349 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TCCGTGATCAACTTTCACCAA 0.478000 33 111 0 0 1 0 0 DHRS4 10901 broad.mit.edu 37 14 24424420 24424420 + Splice_Site SNP C C T TCGA-CE-A485-01A-11D-A23U-08 TCGA-CE-A485-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe9ef6b-c371-4ed7-b315-29b1b3c5bd24 ec6d75c4-498a-466c-b267-7c73295b1b66 g.chr14:24424420C>T ENST00000313250.5 + 2 508 c.306_splice c.e2+1 p.T102_splice DHRS4_ENST00000543741.2_Splice_Site_p.T102_splice|DHRS4_ENST00000397074.3_Splice_Site_p.T102_splice|DHRS4_ENST00000397075.3_Splice_Site_p.T102_splice|DHRS4_ENST00000397073.2_Splice_Site_p.T84_splice|DHRS4_ENST00000382761.3_Splice_Site_p.T84_splice|DHRS4_ENST00000558263.1_Splice_Site_p.T102_splice|DHRS4_ENST00000308178.8_Splice_Site_p.T84_splice|DHRS4_ENST00000559632.1_Splice_Site_p.T102_splice|DHRS4_ENST00000558581.1_Splice_Site_p.T102_splice|DHRS4_ENST00000421831.1_Splice_Site_p.T84_splice NM_021004.2 NP_066284.2 Q9BTZ2 DHRS4_HUMAN dehydrogenase/reductase (SDR family) member 4 102 T -> M (in Ref. 1; AAD02292). mitochondrion|nuclear membrane|peroxisome binding|carbonyl reductase (NADPH) activity p.T102M(4) central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00962) Vitamin A(DB00162) CTGGTGGCCACGGTGAGCTGC 0.652000 3 31 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80369069 80369069 + Missense_Mutation SNP G G A TCGA-CE-A485-01A-11D-A23U-08 TCGA-CE-A485-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe9ef6b-c371-4ed7-b315-29b1b3c5bd24 ec6d75c4-498a-466c-b267-7c73295b1b66 g.chr5:80369069G>A ENST00000265080.4 + 5 752 c.685G>A c.(685-687)Gtg>Atg p.V229M RASGRF2_ENST00000502677.1_3'UTR NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 229 IQ. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) GAAGACCATCGTGCAGGATTA 0.438000 15 46 0 0 1 0 0 CYP2F1 1572 broad.mit.edu 37 19 41633927 41633927 + Silent SNP A A G TCGA-CE-A485-01A-11D-A23U-08 TCGA-CE-A485-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe9ef6b-c371-4ed7-b315-29b1b3c5bd24 ec6d75c4-498a-466c-b267-7c73295b1b66 g.chr19:41633927A>G ENST00000331105.2 + 10 1488 c.1416A>G c.(1414-1416)ccA>ccG p.P472P NM_000774.3 NP_000765.2 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, polypeptide 1 472 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding p.P472P(1) central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2) 29 ACCTGACCCCACTCAGCTCAG 0.652000 4 57 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625947 29625947 + Missense_Mutation SNP T T C TCGA-CE-A485-01A-11D-A23U-08 TCGA-CE-A485-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe9ef6b-c371-4ed7-b315-29b1b3c5bd24 ec6d75c4-498a-466c-b267-7c73295b1b66 g.chr20:29625947T>C ENST00000278882.3 + 5 571 c.191T>C c.(190-192)aTt>aCt p.I64T FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T p.I64T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCAGATGCAATTGGACCAAGA 0.343000 6 48 0 0 1 0 0 RMDN2 151393 broad.mit.edu 37 2 38201247 38201247 + Missense_Mutation SNP C C T rs138851338 byFrequency TCGA-CE-A485-01A-11D-A23U-08 TCGA-CE-A485-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe9ef6b-c371-4ed7-b315-29b1b3c5bd24 ec6d75c4-498a-466c-b267-7c73295b1b66 g.chr2:38201247C>T ENST00000407257.1 + 3 1198 c.1051C>T c.(1051-1053)Cgt>Tgt p.R351C RMDN2_ENST00000234195.3_Missense_Mutation_p.R351C|RMDN2_ENST00000417700.2_Missense_Mutation_p.R28C|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Missense_Mutation_p.R173C|RMDN2_ENST00000354545.2_Missense_Mutation_p.R173C regulator of microtubule dynamics 2 ATTTAACACACGTGTAGAGGA 0.378000 3 30 0 0 1 0 0 IGHV3-43 0 broad.mit.edu 37 14 106926652 106926653 + RNA DEL TC TC - TCGA-CE-A485-01A-11D-A23U-08 TCGA-CE-A485-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe9ef6b-c371-4ed7-b315-29b1b3c5bd24 ec6d75c4-498a-466c-b267-7c73295b1b66 g.chr14:106926652_106926653delTC ENST00000434710.1 - 0 71_72 CATGGTGCGTTCTCTGTGTTCA 0.495 7 116 --- --- --- --- LILRB5 0 broad.mit.edu 37 19 54754838 54754839 + Frame_Shift_Ins INS - - G rs11375503 TCGA-CE-A485-01A-11D-A23U-08 TCGA-CE-A485-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe9ef6b-c371-4ed7-b315-29b1b3c5bd24 ec6d75c4-498a-466c-b267-7c73295b1b66 g.chr19:54754838_54754839insG ENST00000450632.1 - 13 1873_1874 c.1796_1797insC c.(1795-1797)cccfs p.P599fs LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 424 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GTGGTGGGGGTGGGGAGGCCTG 0.604 9 9 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29628229 29628230 + Frame_Shift_Ins INS - - A TCGA-CE-A485-01A-11D-A23U-08 TCGA-CE-A485-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe9ef6b-c371-4ed7-b315-29b1b3c5bd24 ec6d75c4-498a-466c-b267-7c73295b1b66 g.chr20:29628229_29628230insA ENST00000278882.3 + 6 611_612 c.231_232insA c.(229-234)ggaaatfs p.N78fs FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.N78fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.N83fs endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCACTTAGGGGAAAATGGCTTT 0.351 10 67 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20920814 20920816 + In_Frame_Del DEL CAG CAG - rs71769813 TCGA-CE-A485-01A-11D-A23U-08 TCGA-CE-A485-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fe9ef6b-c371-4ed7-b315-29b1b3c5bd24 ec6d75c4-498a-466c-b267-7c73295b1b66 g.chr22:20920814_20920816delCAG ENST00000263205.7 + 7 820_822 c.751_753delCAG c.(751-753)del p.Q262del MED15_ENST00000425759.2_In_Frame_Del_p.Q151del|MED15_ENST00000406969.1_In_Frame_Del_p.Q236del|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del|MED15_ENST00000382974.2_In_Frame_Del_p.Q191del|MED15_ENST00000541476.1_In_Frame_Del_p.Q236del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 262 Poly-Gln. Missing. Missing (in Ref. 3; BAB85034). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding p.Q250_Q251insQ(4) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) acaacagcaacagcagcagcagc 0.591 8 40 --- --- --- ---