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 CAPN13 92291 broad.mit.edu 37 2 30987143 30987143 + Missense_Mutation SNP T T C TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr2:30987143T>C ENST00000295055.8 - 6 730 c.554A>G c.(553-555)tAt>tGt p.Y185C CAPN13_ENST00000534090.2_Missense_Mutation_p.Y185C|CAPN13_ENST00000465960.2_5'UTR NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 185 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity p.Y185C(2) NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) GAGGAAGCCATAGTGCAGATC 0.577 9 22 --- --- --- --- SPTBN1 6711 broad.mit.edu 37 2 54753666 54753666 + Silent SNP G G A TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr2:54753666G>A ENST00000356805.4 + 2 392 c.111G>A c.(109-111)gcG>gcA p.A37A AC092839.3_ENST00000433475.1_RNA NM_003128.2 NP_003119.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 37 Actin-binding. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton p.A37A(1) NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) ACAGCTCTGCGCGGCTTTTTG 0.532 16 54 --- --- --- --- NGLY1 55768 broad.mit.edu 37 3 25778887 25778887 + Missense_Mutation SNP T T C TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr3:25778887T>C ENST00000428257.1 - 6 1048 c.941A>G c.(940-942)aAt>aGt p.N314S NGLY1_ENST00000280700.5_Missense_Mutation_p.N314S|NGLY1_ENST00000417874.2_Missense_Mutation_p.N272S|NGLY1_ENST00000396649.3_Missense_Mutation_p.N314S|NGLY1_ENST00000422724.2_Missense_Mutation_p.I163V NM_001145293.1 NP_001138765.1 Q96IV0 NGLY1_HUMAN N-glycanase 1 314 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding p.N314S(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 TGTAAAACAATTGGCCCACTC 0.413 8 61 --- --- --- --- SLC34A2 10568 broad.mit.edu 37 4 25678365 25678365 + Silent SNP C C T TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr4:25678365C>T ENST00000382051.3 + 13 2117 c.2067C>T c.(2065-2067)gcC>gcT p.A689A SLC34A2_ENST00000503434.1_Silent_p.A688A|SLC34A2_ENST00000504570.1_Silent_p.A688A NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 689 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity p.A689A(1) SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) AATGCACGGCCTTGTAGGGGA 0.562 T ROS1 NSCLC 12 56 --- --- --- --- TMEM184C 55751 broad.mit.edu 37 4 148545026 148545026 + Missense_Mutation SNP T T G TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr4:148545026T>G ENST00000296582.3 + 2 739 c.165T>G c.(163-165)ttT>ttG p.F55L TMEM184C_ENST00000508208.1_Missense_Mutation_p.F55L NM_018241.2 NP_060711.2 Q9NVA4 T184C_HUMAN transmembrane protein 184C 55 integral to membrane p.F55L(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1) 16 CTGGAATCTTTTTGCTGTTGA 0.323 23 66 --- --- --- --- FZD6 8323 broad.mit.edu 37 8 104340556 104340556 + Missense_Mutation SNP A A G TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr8:104340556A>G ENST00000358755.4 + 5 1770 c.1453A>G c.(1453-1455)Att>Gtt p.I485V FZD6_ENST00000522566.1_Missense_Mutation_p.I485V|FZD6_ENST00000523739.1_Missense_Mutation_p.I453V|FZD6_ENST00000540287.1_Missense_Mutation_p.I180V NM_001164616.1|NM_003506.3 NP_001158088.1|NP_003497.2 O60353 FZD6_HUMAN frizzled family receptor 6 485 angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding p.I485V(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) GATGACATTAATTGTTGGCAT 0.358 14 47 --- --- --- --- SLK 9748 broad.mit.edu 37 10 105761232 105761232 + Missense_Mutation SNP C C A TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr10:105761232C>A ENST00000369755.3 + 8 1440 c.895C>A c.(895-897)Ccc>Acc p.P299T SLK_ENST00000335753.4_Missense_Mutation_p.P299T NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 299 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity p.P299T(1) kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TTCCAACAAACCCATCCGAGA 0.388 7 32 --- --- --- --- KRTAP5-9 3846 broad.mit.edu 37 11 71259904 71259904 + Silent SNP C C T TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr11:71259904C>T ENST00000528743.2 + 1 439 c.201C>T c.(199-201)ggC>ggT p.G67G NM_005553.3 NP_005544.4 P26371 KRA59_HUMAN keratin associated protein 5-9 67 8 X 4 AA repeats of C-C-X-P. epidermis development keratin filament p.G67G(1) kidney(1)|large_intestine(1)|lung(6)|prostate(3) 11 CCTGTGGGGGCTCCAAGGGAG 0.627 8 159 --- --- --- --- BBS10 79738 broad.mit.edu 37 12 76740951 76740951 + Missense_Mutation SNP C C T TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr12:76740951C>T ENST00000393262.3 - 2 897 c.814G>A c.(814-816)Gga>Aga p.G272R NM_024685.3 NP_078961.3 Q8TAM1 BBS10_HUMAN Bardet-Biedl syndrome 10 272 cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis cilium ATP binding p.G272R(1) endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1) 19 AACTCTGATCCAGAAGTGGAA 0.373 Bardet-Biedl syndrome 12 26 --- --- --- --- RPS6KA5 9252 broad.mit.edu 37 14 91360831 91360831 + Missense_Mutation SNP T T G TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr14:91360831T>G ENST00000261991.3 - 13 1743 c.1570A>C c.(1570-1572)Atc>Ctc p.I524L RPS6KA5_ENST00000418736.2_Missense_Mutation_p.I524L|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.I445L NM_004755.2 NP_004746.2 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 5 524 Protein kinase 2. axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.I524L(2) endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) TTCCTCATGATGTAGCTGGCT 0.448 25 54 --- --- --- --- AP3B2 8120 broad.mit.edu 37 15 83346500 83346500 + Missense_Mutation SNP C C A TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr15:83346500C>A ENST00000261722.3 - 12 1508 c.1301G>T c.(1300-1302)gGa>gTa p.G434V AP3B2_ENST00000535348.1_Missense_Mutation_p.G402V|AP3B2_ENST00000535359.1_Missense_Mutation_p.G434V|RP11-752G15.3_ENST00000560650.1_RNA NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 434 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity p.G433V(1)|p.G434V(1) breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) TGCACAGCGTCCAATGGCCTG 0.537 4 14 --- --- --- --- IQGAP1 8826 broad.mit.edu 37 15 91027480 91027480 + Missense_Mutation SNP C C G TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr15:91027480C>G ENST00000268182.5 + 30 3941 c.3817C>G c.(3817-3819)Cca>Gca p.P1273A IQGAP1_ENST00000560738.1_Missense_Mutation_p.P701A NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1273 C1. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity p.P1273A(1) breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) TTGTGATGTCCCAGAGCTTCA 0.423 33 121 --- --- --- --- DNM1P46 196968 broad.mit.edu 37 15 100331077 100331077 + RNA SNP C C A TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr15:100331077C>A ENST00000341853.1 - 0 3114 NR_003260.1 GCGGCCCCTCCCCTCAGAGTA 0.517 4 91 --- --- --- --- TMEM105 284186 broad.mit.edu 37 17 79287646 79287646 + Missense_Mutation SNP C C A TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr17:79287646C>A ENST00000332900.1 - 3 744 c.195G>T c.(193-195)tgG>tgT p.W65C NM_178520.3 NP_848615.1 Q8N8V8 TM105_HUMAN transmembrane protein 105 65 integral to membrane NS(1)|large_intestine(3)|lung(1)|ovary(2) 7 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892) CACAGTCCCCCCAAGGAGACC 0.642 4 112 --- --- --- --- C20orf194 25943 broad.mit.edu 37 20 3236652 3236652 + Splice_Site SNP C C G TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr20:3236652C>G ENST00000252032.9 - 34 3328 c.3261G>C c.(3259-3261)caG>caC p.Q1087H C20orf194_ENST00000453730.2_3'UTR NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 1087 p.Q1087H(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 TGGAAACCACCTGCTTAGCTG 0.597 8 27 --- --- --- --- PTPRT 11122 broad.mit.edu 37 20 40735499 40735499 + Missense_Mutation SNP T T G TCGA-G9-6364-01A-21D-1786-08 TCGA-G9-6364-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4a3d716-cd83-4012-91ec-ff5e45784c98 a820bb95-2a8f-46cf-b111-46f108dc789a g.chr20:40735499T>G ENST00000373198.4 - 25 3609 c.3374A>C c.(3373-3375)aAt>aCt p.N1125T PTPRT_ENST00000373184.1_Missense_Mutation_p.N1116T|PTPRT_ENST00000373201.1_Missense_Mutation_p.N1096T|PTPRT_ENST00000373190.1_Missense_Mutation_p.N1105T|PTPRT_ENST00000356100.2_Missense_Mutation_p.N1115T|PTPRT_ENST00000373193.3_Missense_Mutation_p.N1109T|PTPRT_ENST00000373187.1_Missense_Mutation_p.N1106T NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.N1128T(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CACCCCTTCATTCTCGGCCAT 0.562 4 103 --- --- --- ---