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 FGF5 2250 broad.mit.edu 37 4 81188037 81188037 + Missense_Mutation SNP C C T TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr4:81188037C>T ENST00000456523.3 + 1 245 c.59C>T c.(58-60)gCt>gTt p.A20V FGF5_ENST00000312465.7_Missense_Mutation_p.A20V NM_033143.2 NP_149134.1 P12034 FGF5_HUMAN fibroblast growth factor 5 20 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 AGCGCCTGGGCTCACGGGGAG 0.617000 4 65 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49702234 49702234 + Missense_Mutation SNP G G A TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr3:49702234G>A ENST00000296452.4 + 10 11857 c.11743G>A c.(11743-11745)Gtc>Atc p.V3915I NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 3915 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) TGTCACAGCTGTCTCTGCTTT 0.542000 5 208 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48696931 48696931 + Missense_Mutation SNP G G A TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr3:48696931G>A ENST00000544264.1 - 1 3417 c.3137C>T c.(3136-3138)cCa>cTa p.P1046L CELSR3_ENST00000164024.4_Missense_Mutation_p.P1046L Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 1046 Cadherin 7. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AGTCCGGAGTGGGGGCACACC 0.557000 76 162 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161618 90161618 + RNA SNP C C T rs13338202 by1000genomes TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr16:90161618C>T ENST00000567960.1 + 0 354 TUBB8P7_ENST00000564451.1_RNA p.D118D(2) CAGTGATGGACGTTGTCAGAA 0.607000 5 45 0 0 1 0 0 IGHV4-61 28391 broad.mit.edu 37 14 107095582 107095582 + RNA SNP G G T TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr14:107095582G>T ENST00000390630.2 - 0 80 AGGAGGTCCAGGACTCTCAGA 0.502000 4 45 0.0477658 0.0477658 1 1 0 APOL2 23780 broad.mit.edu 37 22 36624072 36624072 + Missense_Mutation SNP G G C TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr22:36624072G>C ENST00000249066.6 - 6 868 c.392C>G c.(391-393)aCc>aGc p.T131S APOL2_ENST00000451256.2_Missense_Mutation_p.T243S|APOL2_ENST00000358502.5_Missense_Mutation_p.T131S NM_145637.1 NP_663612.1 Q9BQE5 APOL2_HUMAN apolipoprotein L, 2 131 acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development endoplasmic reticulum membrane|extracellular region high-density lipoprotein particle binding|lipid binding|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2) 9 GCCGAGGAGGGTCAGGATGCC 0.582000 24 48 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 4 166 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215910616 215910616 + Missense_Mutation SNP A A T TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr2:215910616A>T ENST00000272895.7 - 7 1036 c.817T>A c.(817-819)Ttt>Att p.F273I NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 273 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TCATTCTGAAACACATTTGGA 0.358000 20 40 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94639989 94639989 + Silent SNP C C T TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr1:94639989C>T ENST00000260526.6 - 23 3404 c.3222G>A c.(3220-3222)caG>caA p.Q1074Q NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 1074 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) GTAGAGTTTGCTGGTCAAAGC 0.388000 4 118 0 0 1 0 0 SLC47A1 55244 broad.mit.edu 37 17 19458546 19458546 + Missense_Mutation SNP G G A TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr17:19458546G>A ENST00000270570.4 + 7 651 c.565G>A c.(565-567)Gta>Ata p.V189I SLC47A1_ENST00000571335.1_Intron|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000436810.2_Missense_Mutation_p.V166I|SLC47A1_ENST00000457293.1_Missense_Mutation_p.V189I|SLC47A1_ENST00000395585.1_Missense_Mutation_p.V189I|SLC47A1_ENST00000542886.1_Intron NM_018242.2 NP_060712.2 Q96FL8 S47A1_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 1 189 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) GCCCCAGATCGTAACTGGAGT 0.507000 5 260 0 0 1 0 0 MRC2 9902 broad.mit.edu 37 17 60742089 60742089 + Missense_Mutation SNP G G A TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr17:60742089G>A ENST00000303375.5 + 2 701 c.299G>A c.(298-300)gGc>gAc p.G100D NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 100 Ricin B-type lectin. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 GGCTGGCCAGGCACCAACACC 0.607000 24 44 0 0 1 0 0 FAM86C2P 645332 broad.mit.edu 37 11 67560590 67560590 + RNA SNP C C T TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr11:67560590C>T ENST00000528089.1 - 0 1160 AAGTTTTATCCGCTTTCCCAT 0.413000 4 14 0 0 1 0 0 PCK1 5105 broad.mit.edu 37 20 56138155 56138155 + Missense_Mutation SNP A A T TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr20:56138155A>T ENST00000319441.4 + 5 846 c.682A>T c.(682-684)Atc>Ttc p.I228F PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Missense_Mutation_p.I96F NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 228 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CCGCAGAGAGATCATCTCCTT 0.612000 26 60 0 0 1 0 0 IGHV4-61 28391 broad.mit.edu 37 14 107095585 107095585 + RNA SNP C C G TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr14:107095585C>G ENST00000390630.2 - 0 77 AGGTCCAGGACTCTCAGAAAG 0.507000 4 41 0 0 1 0 0 BCR 613 broad.mit.edu 37 22 23523743 23523743 + Missense_Mutation SNP G G A TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr22:23523743G>A ENST00000305877.8 + 1 1347 c.596G>A c.(595-597)cGc>cAc p.R199H BCR_ENST00000359540.3_Missense_Mutation_p.R199H|BCR_ENST00000398512.5_Missense_Mutation_p.R199H NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 199 Binding to ABL SH2-domain.|Kinase. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 GTGTCGGACCGCATCAGCTCC 0.667000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 4 44 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100218011 100218013 + In_Frame_Del DEL GCT GCT - TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr2:100218011_100218013delGCT ENST00000317233.4 - 13 1490_1492 c.1255_1257delAGC c.(1255-1257)del p.S419del AFF3_ENST00000409579.1_In_Frame_Del_p.S444del|AFF3_ENST00000356421.2_In_Frame_Del_p.S444del|AFF3_ENST00000409236.1_In_Frame_Del_p.S419del NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 419 Poly-Ser. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 tgctgctgccgctgctgctgctg 0.685 2 4 --- --- --- --- ITGB1 3688 broad.mit.edu 37 10 33217043 33217045 + In_Frame_Del DEL TCC TCC - TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr10:33217043_33217045delTCC ENST00000396033.2 - 5 659_661 c.524_526delGGA c.(523-528)att>a p.RI175del ITGB1_ENST00000374956.4_In_Frame_Del_p.RI175del|ITGB1_ENST00000302278.3_In_Frame_Del_p.RI175del|ITGB1_ENST00000484088.1_Intron|ITGB1_ENST00000423113.1_In_Frame_Del_p.RI175del NM_133376.2 NP_596867.1 P05556 ITB1_HUMAN integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) 175 VWFA. axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Ovarian(717;1.34e-05)|Breast(68;0.0634) TCCGAAGTAATCCTCCTCATTTC 0.355 43 82 --- --- --- --- LINC00334 114042 broad.mit.edu 37 21 46674141 46674142 + RNA INS - - C rs143681595 by1000genomes TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr21:46674141_46674142insC ENST00000584169.1 + 0 232 TGCCCACCTGGCCCCCAGGACC 0.639 2 4 --- --- --- --- SEC14L3 266629 broad.mit.edu 37 22 30858116 30858116 + Frame_Shift_Del DEL C C - TCGA-RW-A686-01A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92fad743-052d-43b4-aac1-853e9800a7a5 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr22:30858116delC ENST00000403066.1 - 10 834 c.551delG c.(550-552)gcfs p.G184fs SEC14L3_ENST00000415957.2_Frame_Shift_Del_p.G184fs|SEC14L3_ENST00000402286.1_Frame_Shift_Del_p.G166fs|SEC14L3_ENST00000401751.1_Frame_Shift_Del_p.G184fs|SEC14L3_ENST00000539629.1_Frame_Shift_Del_p.G184fs|SEC14L3_ENST00000215812.4_Frame_Shift_Del_p.G243fs|SEC14L3_ENST00000540910.1_Frame_Shift_Del_p.G166fs Q9UDX4 S14L3_HUMAN SEC14-like 3 (S. cerevisiae) 243 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) AGTCAGGGTGCCCCCAAACTG 0.507 7 35 --- --- --- ---