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 WFS1 7466 broad.mit.edu 37 4 6302918 6302918 + Missense_Mutation SNP G G C TCGA-EL-A3CO-01A-11D-A19J-08 TCGA-EL-A3CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba1f48c1-8d38-4a91-ba08-a8ecb63cac88 bc492b5b-036e-4452-ac96-4fa312ce29ef g.chr4:6302918G>C uc003giy.3 + 7 1562 c.1396G>C c.(1396-1398)Ggc>Cgc p.G466R WFS1_uc003gix.3_Missense_Mutation_p.G466R|WFS1_uc003giz.3_Missense_Mutation_p.G284R NM_001145853 NP_005996 O76024 WFS1_HUMAN Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA. 466 ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) GGTCACCGCCGGCCTGCTATC 0.642000 6 75 0 0 1 0 0 AFM 173 broad.mit.edu 37 4 74357625 74357625 + Missense_Mutation SNP T T G TCGA-EL-A3CO-01A-11D-A19J-08 TCGA-EL-A3CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba1f48c1-8d38-4a91-ba08-a8ecb63cac88 bc492b5b-036e-4452-ac96-4fa312ce29ef g.chr4:74357625T>G uc003hhb.3 + 7 911 c.880T>G c.(880-882)Tct>Gct p.S294A NM_001133 NP_001124 P43652 AFAM_HUMAN Homo sapiens afamin (AFM), mRNA. 294 Albumin 2. vitamin transport vitamin E binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AAAACAAGATTCTATCTCCAG 0.358000 5 104 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64680925 64680925 + Missense_Mutation SNP A A G TCGA-EL-A3CO-01A-11D-A19J-08 TCGA-EL-A3CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba1f48c1-8d38-4a91-ba08-a8ecb63cac88 bc492b5b-036e-4452-ac96-4fa312ce29ef g.chr14:64680925A>G uc001xgl.3 + 105 19300 c.19070A>G c.(19069-19071)gAa>gGa p.E6357G SYNE2_uc001xgm.3_Missense_Mutation_p.E6357G|SYNE2_uc010apy.3_Missense_Mutation_p.E2742G|SYNE2_uc001xgn.3_Missense_Mutation_p.E1319G|SYNE2_uc021rui.1_Missense_Mutation_p.E1344G|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.E327G|SYNE2_uc001xgq.3_Missense_Mutation_p.E722G|SYNE2_uc001xgr.3_Missense_Mutation_p.E140G|SYNE2_uc010tsi.2_5'UTR|SYNE2_uc001xgs.3_5'UTR|SYNE2_uc001xgt.3_5'Flank NM_182914 NP_878918 Q8WXH0 SYNE2_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA. 6357 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TTGGAAGATGAAAAGGAGGCC 0.458000 7 103 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61687935 61687935 + Silent SNP G G A TCGA-EL-A3CO-01A-11D-A19J-08 TCGA-EL-A3CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba1f48c1-8d38-4a91-ba08-a8ecb63cac88 bc492b5b-036e-4452-ac96-4fa312ce29ef g.chr16:61687935G>A uc002eog.2 - 11 2932 c.1977C>T c.(1975-1977)gaC>gaT p.D659D NM_001796 NP_001787 P55286 CADH8_HUMAN Homo sapiens cadherin 8, type 2 (CDH8), mRNA. 659 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TTTCTCGAACGTCTTCATCAT 0.393000 8 122 0 0 1 0 0 FLOT1 10211 broad.mit.edu 37 6 30707994 30707994 + Missense_Mutation SNP C C T TCGA-EL-A3CO-01A-11D-A19J-08 TCGA-EL-A3CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba1f48c1-8d38-4a91-ba08-a8ecb63cac88 bc492b5b-036e-4452-ac96-4fa312ce29ef g.chr6:30707994C>T uc003nrm.3 - 7 828 c.664G>A c.(664-666)Gcc>Acc p.A222T FLOT1_uc011dmr.2_Missense_Mutation_p.A174T NM_005803 NP_005794 O75955 FLOT1_HUMAN Homo sapiens flotillin 1 (FLOT1), mRNA. 222 centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1) 13 ATGTCATAGGCGGCCTTCTTC 0.562000 4 51 0 0 1 0 0 EIF1AX 1964 broad.mit.edu 37 X 20156731 20156731 + Missense_Mutation SNP C C T TCGA-EL-A3CO-01A-11D-A19J-08 TCGA-EL-A3CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba1f48c1-8d38-4a91-ba08-a8ecb63cac88 bc492b5b-036e-4452-ac96-4fa312ce29ef g.chrX:20156731C>T uc004czt.3 - 1 234 c.26G>A c.(25-27)gGt>gAt p.G9D SCARNA9L_uc010nfp.3_5'Flank NM_001412 NP_001403 P47813 IF1AX_HUMAN Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA. 9 cytosol translation initiation factor activity endometrium(2)|lung(1)|ovary(1)|prostate(1) 5 TCTGTTTTTACCTCCTTTACC 0.313000 15 56 0 0 1 0 0 KCNMA1 3778 broad.mit.edu 37 10 79011015 79011015 + Splice_Site SNP C C T TCGA-EL-A3CO-01A-11D-A19J-08 TCGA-EL-A3CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba1f48c1-8d38-4a91-ba08-a8ecb63cac88 bc492b5b-036e-4452-ac96-4fa312ce29ef g.chr10:79011015C>T uc001jxn.3 - 3 718 c.541_splice c.e3-1 p.V181_splice KCNMA1_uc021ptu.1_Splice_Site_p.V127_splice|KCNMA1_uc001jxj.2_Splice_Site_p.V181_splice|KCNMA1_uc009xrt.1_Splice_Site|KCNMA1_uc001jxo.3_Splice_Site_p.V181_splice|KCNMA1_uc001jxm.3_Splice_Site_p.V181_splice|KCNMA1_uc001jxq.3_Splice_Site_p.V181_splice NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA. 181 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity p.?(2) breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) CTAAGACAACCTGTAAAAGAA 0.398000 OREG0020289 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 35 0 0 1 0 0 C12orf71 728858 broad.mit.edu 37 12 27234923 27234923 + Frame_Shift_Del DEL C C - TCGA-EL-A3CO-01A-11D-A19J-08 TCGA-EL-A3CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba1f48c1-8d38-4a91-ba08-a8ecb63cac88 bc492b5b-036e-4452-ac96-4fa312ce29ef g.chr12:27234923delC uc001rhq.3 - 0 533 c.494delG c.(493-495)ggcfs p.G165fs NM_001080406 NP_001073875 A8MTZ7 CL071_HUMAN Homo sapiens chromosome 12 open reading frame 71 (C12orf71), mRNA. 165 endometrium(2)|large_intestine(1)|lung(4)|skin(1) 8 CGGAGGGGAGCCGCTGGATAG 0.423 2 4 --- --- --- ---