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 VWA3B 200403 broad.mit.edu 37 2 98750306 98750306 + Missense_Mutation SNP A A G TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr2:98750306A>G ENST00000477737.1 + 7 1096 c.892A>G c.(892-894)Aga>Gga p.R298G VWA3B_ENST00000451075.2_Missense_Mutation_p.R148G|VWA3B_ENST00000435344.1_Missense_Mutation_p.R298G NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 298 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 ATTTGCCGAGAGAACAGAGTG 0.473000 5 323 0 0 1 0 0 AGL 178 broad.mit.edu 37 1 100366293 100366293 + Nonsense_Mutation SNP G G A TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr1:100366293G>A ENST00000294724.4 + 26 3942 c.3464G>A c.(3463-3465)tGg>tAg p.W1155* AGL_ENST00000361522.4_Nonsense_Mutation_p.W1138*|AGL_ENST00000370163.3_Nonsense_Mutation_p.W1155*|AGL_ENST00000361915.3_Nonsense_Mutation_p.W1155*|AGL_ENST00000370165.3_Nonsense_Mutation_p.W1155*|AGL_ENST00000361302.3_Nonsense_Mutation_p.W1139*|AGL_ENST00000370161.2_Nonsense_Mutation_p.W1139* NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1155 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) GATGCTGTGTGGTGGTGGCTG 0.428000 5 329 0 0 1 0 0 ABCB4 5244 broad.mit.edu 37 7 87031478 87031478 + Missense_Mutation SNP C C G TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr7:87031478C>G ENST00000265723.4 - 28 3906 c.3795G>C c.(3793-3795)caG>caC p.Q1265H ABCB4_ENST00000545634.1_Missense_Mutation_p.Q1258H|ABCB4_ENST00000359206.3_Missense_Mutation_p.Q1258H|ABCB4_ENST00000358400.3_Missense_Mutation_p.Q1211H|ABCB4_ENST00000453593.1_Missense_Mutation_p.Q1211H NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 1265 ABC transporter 2. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) GTGCCAGCAGCTGCTGATGCG 0.443000 5 185 0 0 1 0 0 MSLNL 401827 broad.mit.edu 37 16 823129 823129 + Splice_Site SNP C C G TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr16:823129C>G ENST00000293892.3 - 10 2138 c.2139_splice c.e10+1 p.Q713_splice MSLNL_ENST00000442466.1_Splice_Site_p.Q362_splice Q96KJ4 MSLNL_HUMAN mesothelin-like 362 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 AGCCGTGCACCTGTGCGAGCT 0.657000 6 102 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 4020293 4020293 + Missense_Mutation SNP G G C TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr17:4020293G>C ENST00000381638.2 - 3 791 c.667C>G c.(667-669)Ctg>Gtg p.L223V ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 223 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 AGCTGATCCAGAGACTCCTTC 0.512000 17 322 0 0 1 0 0 S100A7 6278 broad.mit.edu 37 1 153430314 153430314 + Missense_Mutation SNP C C G TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr1:153430314C>G ENST00000368723.3 - 3 384 c.274G>C c.(274-276)Gga>Cga p.G92R S100A7_ENST00000368722.1_Missense_Mutation_p.G92R NM_002963.3 NP_002954.2 P31151 S10A7_HUMAN S100 calcium binding protein A7 92 angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus calcium ion binding|RAGE receptor binding|zinc ion binding breast(1)|large_intestine(2)|lung(5)|skin(2) 10 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GGCGCTGCTCCATGGCTCTGC 0.517000 4 121 0 0 1 0 0 GPR142 350383 broad.mit.edu 37 17 72366698 72366698 + Missense_Mutation SNP G G A TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr17:72366698G>A ENST00000335666.4 + 3 445 c.397G>A c.(397-399)Gtc>Atc p.V133I NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 133 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 CACGCCCCACGTCAGCGGGCT 0.617000 6 44 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113988206 113988206 + Missense_Mutation SNP A A T TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr8:113988206A>T ENST00000297405.5 - 7 1446 c.1202T>A c.(1201-1203)cTc>cAc p.L401H CSMD3_ENST00000352409.3_Missense_Mutation_p.L401H|CSMD3_ENST00000343508.3_Missense_Mutation_p.L361H|CSMD3_ENST00000455883.2_Intron NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 401 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGAATTTCTGAGACTCGTAAC 0.498000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 153 0 0 1 0 0 NCAPD3 23310 broad.mit.edu 37 11 134029936 134029936 + Missense_Mutation SNP C C G TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr11:134029936C>G ENST00000534548.2 - 29 3782 c.3718G>C c.(3718-3720)Gac>Cac p.D1240H NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 1240 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) GCAAAGAAGTCCTTGAGCTCA 0.473000 6 98 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45127107 45127107 + RNA SNP C C G rs147409399 by1000genomes TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr17:45127107C>G ENST00000575173.1 - 0 418 CCTTCGTTCACCCAAGAGCAT 0.592000 3 102 0 0 1 0 0 MCF2 4168 broad.mit.edu 37 X 138668623 138668623 + Missense_Mutation SNP C C T TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chrX:138668623C>T ENST00000520602.1 - 26 3011 c.2726G>A c.(2725-2727)aGt>aAt p.S909N MCF2_ENST00000370573.4_Intron|MCF2_ENST00000370576.4_Missense_Mutation_p.S849N|MCF2_ENST00000338585.6_Missense_Mutation_p.S865N|MCF2_ENST00000370578.4_Missense_Mutation_p.S994N|MCF2_ENST00000519895.1_Missense_Mutation_p.S925N|MCF2_ENST00000536274.1_Intron|MCF2_ENST00000414978.1_Missense_Mutation_p.S909N P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 849 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) TTCCTCAGTACTTATAAAAGC 0.383000 7 92 0 0 1 0 0 EPB42 2038 broad.mit.edu 37 15 43489545 43489545 + Silent SNP G G T TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr15:43489545G>T ENST00000300215.3 - 13 2578 c.2121C>A c.(2119-2121)acC>acA p.T707T EPB42_ENST00000540029.1_Silent_p.T599T|EPB42_ENST00000563128.1_Intron|EPB42_ENST00000441366.2_Silent_p.T677T P16452 EPB42_HUMAN erythrocyte membrane protein band 4.2 677 erythrocyte maturation|peptide cross-linking|regulation of cell shape cytoplasm|cytoskeleton|plasma membrane ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.7e-07) TTTTATAGTTGGTTAGGTTCT 0.483000 3 70 1 1 1 1 0 PKP4 8502 broad.mit.edu 37 2 159477861 159477861 + Silent SNP G G A TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr2:159477861G>A ENST00000389757.3 + 6 656 c.531G>A c.(529-531)caG>caA p.Q177Q PKP4_ENST00000389759.3_Silent_p.Q177Q NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 177 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 ACAGACAGCAGCATTCATTCA 0.453000 HNSCC(62;0.18) 3 100 0 0 1 0 0 INPP5B 3633 broad.mit.edu 37 1 38409493 38409493 + Silent SNP G G C TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr1:38409493G>C ENST00000373023.2 - 4 318 c.225C>G c.(223-225)gtC>gtG p.V75V INPP5B_ENST00000373021.1_Silent_p.V75V|INPP5B_ENST00000373024.3_Silent_p.V75V|INPP5B_ENST00000373026.1_Silent_p.V75V NM_005540.2 NP_005531.2 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 75 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1) 15 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) AATCCCGCGAGACTGGCACTA 0.582000 6 207 0 0 1 0 0 SLC24A1 9187 broad.mit.edu 37 15 65943130 65943130 + Silent SNP G G A TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr15:65943130G>A ENST00000261892.6 + 7 2930 c.2643G>A c.(2641-2643)gaG>gaA p.E881E SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000546330.1_Silent_p.E863E|SLC24A1_ENST00000537259.1_Silent_p.E863E|SLC24A1_ENST00000399033.4_Silent_p.E881E|SLC24A1_ENST00000544319.2_Silent_p.E767E|SLC24A1_ENST00000339868.6_Silent_p.E863E NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 881 Poly-Glu. response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 aggaggaagaggaggaggagg 0.562000 3 23 0 0 1 0 0 ZMAT1 84460 broad.mit.edu 37 X 101138612 101138612 + Missense_Mutation SNP C C T rs141908807 byFrequency TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chrX:101138612C>T ENST00000372782.3 - 7 1834 c.1787G>A c.(1786-1788)cGa>cAa p.R596Q ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.R596Q|ZMAT1_ENST00000458570.1_Missense_Mutation_p.R425Q NM_001011657.3 NP_001011657.2 A7MD47 A7MD47_HUMAN zinc finger, matrin-type 1 425 nucleus zinc ion binding p.R425Q(1) endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 TTTCTTTTTTCGATGCTTAAG 0.383000 4 65 0 0 1 0 0 GYPE 2996 broad.mit.edu 37 4 144826671 144826671 + Translation_Start_Site SNP C C T TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr4:144826671C>T ENST00000358615.4 - 0 41 GYPE_ENST00000437468.2_De_novo_Start_OutOfFrame NM_198682.2 NP_941391.2 P15421 GLPE_HUMAN glycophorin E (MNS blood group) integral to plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 all_hematologic(180;0.158) CCTGAGATCACGAGCTGGCTC 0.398000 4 62 0 0 1 0 0 MX1 4599 broad.mit.edu 37 21 42812881 42812881 + Missense_Mutation SNP A A G TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr21:42812881A>G ENST00000398600.2 + 11 1684 c.659A>G c.(658-660)aAt>aGt p.N220S MX1_ENST00000398598.3_Missense_Mutation_p.N220S|MX1_ENST00000455164.2_Missense_Mutation_p.N220S|MX1_ENST00000288383.6_Missense_Mutation_p.N197S NM_001144925.1 NP_001138397.1 P20591 MX1_HUMAN myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) 220 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 27 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) GTCCCCAGTAATGTGGACATC 0.572000 14 147 0 0 1 0 0 MTMR1 8776 broad.mit.edu 37 X 149931175 149931175 + Silent SNP C C T TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chrX:149931175C>T ENST00000445323.2 + 16 2116 c.1995C>T c.(1993-1995)tcC>tcT p.S665S MTMR1_ENST00000541925.1_Silent_p.S563S|MTMR1_ENST00000544228.1_Silent_p.S657S|MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000370390.3_Silent_p.S657S Q13613 MTMR1_HUMAN myotubularin related protein 1 657 plasma membrane protein tyrosine phosphatase activity p.S657S(1) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CCTCCCACTCCGCCACCTCCG 0.672000 20 62 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430948 37430948 + Missense_Mutation SNP C C G TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr10:37430948C>G ENST00000374660.1 + 7 1054 c.955C>G c.(955-957)Cca>Gca p.P319A ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 375 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ATTTACGTGGCCAGCAAAAGG 0.423000 3 88 0 0 1 0 0 KLF5 688 broad.mit.edu 37 13 73649937 73649937 + Silent SNP C C A TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr13:73649937C>A ENST00000377687.4 + 4 1823 c.1287C>A c.(1285-1287)ggC>ggA p.G429G KLF5_ENST00000539231.1_Silent_p.G338G NM_001730.3 NP_001721.2 Q13887 KLF5_HUMAN Kruppel-like factor 5 (intestinal) 429 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) AGCACACAGGCGCCAAGCCCT 0.607000 3 66 0.150653 0.154958 1 1 0 INTS5 80789 broad.mit.edu 37 11 62414648 62414648 + Silent SNP G G A TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr11:62414648G>A ENST00000330574.2 - 2 2956 c.2904C>T c.(2902-2904)cgC>cgT p.R968R NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 968 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 CCCGAATGAAGCGACCCCGCT 0.597000 5 171 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212431 26212431 + Silent SNP G G T TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chrX:26212431G>T ENST00000379034.1 + 2 617 c.468G>T c.(466-468)tcG>tcT p.S156S NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 156 Ser-rich. p.S156S(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 CCACTGGCTCGCCTGATGCAG 0.507000 3 65 0.004672 0.005256 1 1 0 ZC3H13 23091 broad.mit.edu 37 13 46619560 46619560 + Missense_Mutation SNP T T A TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr13:46619560T>A ENST00000242848.4 - 2 431 c.83A>T c.(82-84)gAg>gTg p.E28V ZC3H13_ENST00000282007.3_Missense_Mutation_p.E28V Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 28 nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) TCCAAGCCTCTCAAATACACT 0.403000 7 250 0 0 1 0 0 CATSPERD 257062 broad.mit.edu 37 19 5727298 5727298 + Missense_Mutation SNP C C A TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr19:5727298C>A ENST00000381624.3 + 3 207 c.146C>A c.(145-147)cCt>cAt p.P49H CATSPERD_ENST00000381614.2_5'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 49 integral to membrane TATTTTCATCCTACAACAACA 0.303000 3 93 0.00909568 0.00992256 1 1 0 SOWAHC 65124 broad.mit.edu 37 2 110373405 110373405 + Missense_Mutation SNP G G T TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr2:110373405G>T ENST00000356454.3 + 1 1495 c.1339G>T c.(1339-1341)Ggg>Tgg p.G447W NM_023016.3 NP_075392.2 Q53LP3 ANR57_HUMAN sosondowah ankyrin repeat domain family member C 447 CTCGGCTGAGGGGTGGGTCGG 0.552000 3 82 0.115264 0.122044 1 1 0 FBXO41 150726 broad.mit.edu 37 2 73486158 73486158 + Silent SNP C C T TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr2:73486158C>T ENST00000521871.1 - 13 2995 c.2580G>A c.(2578-2580)agG>agA p.R860R FBXO41_ENST00000520530.2_Silent_p.R860R|FBXO41_ENST00000295133.5_Silent_p.R921R Q8TF61 FBX41_HUMAN F-box protein 41 860 intracellular protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1) 13 AGAAGCCGGGCCTCCGTCGCA 0.677000 4 7 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 42 64 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731181 21731181 + Silent SNP C C T TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr17:21731181C>T ENST00000584755.1 + 2 880 c.483C>T c.(481-483)acC>acT p.T161T UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Silent_p.T161T|UBBP4_ENST00000583708.1_3'UTR endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 AGACCCTGACCGGCAAGACCA 0.537000 4 82 0 0 1 0 0 ORAI2 80228 broad.mit.edu 37 7 102087134 102087134 + Missense_Mutation SNP A A T TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr7:102087134A>T ENST00000356387.2 + 4 635 c.400A>T c.(400-402)Atc>Ttc p.I134F ORAI2_ENST00000473939.1_Missense_Mutation_p.I134F|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000478730.1_Missense_Mutation_p.I134F|ORAI2_ENST00000403646.3_Missense_Mutation_p.I134F NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3 NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 2 134 integral to membrane protein binding autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 CCTGAACTCCATCAGCGAGTC 0.627000 5 230 0 0 1 0 0 DBN1 1627 broad.mit.edu 37 5 176886214 176886214 + Silent SNP G G A TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr5:176886214G>A ENST00000292385.5 - 12 1626 c.1017C>T c.(1015-1017)agC>agT p.S339S DBN1_ENST00000512501.1_Silent_p.S69S|DBN1_ENST00000393565.1_Silent_p.S383S|DBN1_ENST00000309007.5_Silent_p.S337S|DBN1_ENST00000393563.4_Silent_p.S69S NM_080881.2 NP_543157.1 Q16643 DREB_HUMAN drebrin 1 337 actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity actomyosin|cytoplasm|dendrite actin binding|profilin binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2) 25 all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGTCAGACGGGCTCCGCGTGG 0.697000 4 215 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179454215 179454218 + Frame_Shift_Del DEL TTTG TTTG - TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr2:179454215_179454218delTTTG ENST00000589042.1 - 304 62458_62461 c.62234_62237delCAAA c.(62233-62238)agfs p.TK20745fs TTN_ENST00000359218.5_Frame_Shift_Del_p.TK11805fs|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.TK18177fs|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.TK19104fs|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.TK11872fs|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.TK11680fs|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19104 Fibronectin type-III 50. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACCTTCATTCTTTGTTTGCACTCT 0.402 10 35 --- --- --- --- AC092619.1 0 broad.mit.edu 37 2 239429499 239429501 + RNA DEL TGG TGG - TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr2:239429499_239429501delTGG ENST00000446979.1 - 0 718 NR_037809.1 gtgatggtgatggtggtgatggc 0.473 3 3 --- --- --- --- AC096582.1 0 broad.mit.edu 37 7 45905737 45905738 + In_Frame_Ins INS - - TGC TCGA-E3-A3E1-01A-11D-A20C-08 TCGA-E3-A3E1-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx d327ae2c-248b-4733-9115-0294a3875e62 e7c8d85b-e62d-42f9-9600-f635b50dd69e g.chr7:45905737_45905738insTGC ENST00000596600.1 - 1 307_308 c.308_309insGCA c.(307-309)cga>cGCAga p.103_103R>RR GGAGGGACTCTtgctgctgctg 0.624 2 4 --- --- --- ---