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 NCDN 23154 broad.mit.edu 37 1 36028872 36028872 + Silent SNP G G T TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr1:36028872G>T ENST00000373243.2 + 5 1838 c.1455G>T c.(1453-1455)ggG>ggT p.G485G NCDN_ENST00000356090.4_Silent_p.G485G|NCDN_ENST00000373253.3_Silent_p.G468G NM_014284.2 NP_055099.1 Q9UBB6 NCDN_HUMAN neurochondrin 485 neuron projection development cytosol|dendrite|neuronal cell body breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TCAAGGAAGGGGCCCCCTCGC 0.627 13 48 --- --- --- --- MYEOV2 150678 broad.mit.edu 37 2 241066272 241066272 + Missense_Mutation SNP A A G rs142104600 TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr2:241066272A>G ENST00000307266.3 - 5 466 c.467T>C c.(466-468)aTg>aCg p.M156T NM_138336.1 NP_612209.1 Q8WXC6 MYOV2_HUMAN myeloma overexpressed 2 0 breast(1)|lung(5)|pancreas(1) 7 all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143) TCTGGTAAACATTAGCGCCTC 0.537 4 117 --- --- --- --- SCN10A 6336 broad.mit.edu 37 3 38802756 38802756 + Silent SNP G G T TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr3:38802756G>T ENST00000449082.2 - 6 809 c.810C>A c.(808-810)ggC>ggA p.G270G NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 270 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TTTTGAGGTTGCCCTTGAAGA 0.473 4 51 --- --- --- --- CCDC66 285331 broad.mit.edu 37 3 56627995 56627995 + Missense_Mutation SNP T T A TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr3:56627995T>A ENST00000394672.3 + 10 1413 c.1343T>A c.(1342-1344)cTc>cAc p.L448H CCDC66_ENST00000326595.7_Missense_Mutation_p.L414H|CCDC66_ENST00000436465.2_Missense_Mutation_p.L448H NM_001012506.4|NM_001141947.1 NP_001012524.4|NP_001135419.1 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 448 breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) ATGACTGCTCTCTTGGACCCA 0.373 18 76 --- --- --- --- KDR 3791 broad.mit.edu 37 4 55946268 55946268 + Missense_Mutation SNP C C T TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr4:55946268C>T ENST00000263923.4 - 30 4206 c.3911G>A c.(3910-3912)gGc>gAc p.G1304D RP11-530I17.1_ENST00000511222.1_RNA NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 1304 angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GGACTGGTAGCCGCTTGTCTG 0.507 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 5 111 --- --- --- --- FAM8A1 51439 broad.mit.edu 37 6 17605181 17605181 + Missense_Mutation SNP A A G TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr6:17605181A>G ENST00000259963.3 + 3 933 c.878A>G c.(877-879)gAt>gGt p.D293G NM_016255.2 NP_057339.1 Q9UBU6 FA8A1_HUMAN family with sequence similarity 8, member A1 293 RDD. integral to membrane endometrium(1)|large_intestine(2)|lung(3) 6 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.143) all cancers(50;0.176)|Epithelial(50;0.204) GAAGAAATAGATGAAGACACA 0.323 8 33 --- --- --- --- MUC17 140453 broad.mit.edu 37 7 100681501 100681501 + Silent SNP C C T TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr7:100681501C>T ENST00000306151.4 + 3 6868 c.6804C>T c.(6802-6804)agC>agT p.S2268S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2268 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AAGGTACCAGCATACCAACTT 0.488 42 270 --- --- --- --- LAMB1 3912 broad.mit.edu 37 7 107580636 107580636 + Missense_Mutation SNP C C T TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr7:107580636C>T ENST00000393561.1 - 23 3815 c.3631G>A c.(3631-3633)Gat>Aat p.D1211N LAMB1_ENST00000222399.6_Missense_Mutation_p.D1187N P07942 LAMB1_HUMAN laminin, beta 1 1187 Domain II. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATGATCACATCCCAGAGAGCA 0.572 11 94 --- --- --- --- C9orf43 257169 broad.mit.edu 37 9 116191656 116191656 + Missense_Mutation SNP G G T TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr9:116191656G>T ENST00000288462.4 + 14 1822 c.1376G>T c.(1375-1377)gGg>gTg p.G459V C9orf43_ENST00000374165.1_Missense_Mutation_p.G459V NM_152786.1 NP_689999.1 Q8TAL5 CI043_HUMAN chromosome 9 open reading frame 43 459 breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3) 15 CAGTCCTCTGGGGCAGAGTGA 0.527 3 31 --- --- --- --- PDE6C 5146 broad.mit.edu 37 10 95405746 95405746 + Missense_Mutation SNP G G C TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr10:95405746G>C ENST00000371447.3 + 15 2015 c.1877G>C c.(1876-1878)gGt>gCt p.G626A NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 626 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) AGACTTCATGGTTCTTCTATT 0.403 8 37 --- --- --- --- ZIC5 85416 broad.mit.edu 37 13 100617974 100617974 + Missense_Mutation SNP G G C TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr13:100617974G>C ENST00000267294.4 - 2 1882 c.1649C>G c.(1648-1650)cCc>cGc p.P550R NM_033132.3 NP_149123.2 Q96T25 ZIC5_HUMAN Zic family member 5 550 cell differentiation nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2) 9 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GCAGTAGTAGGGCTTGTCACT 0.493 19 81 --- --- --- --- ANKFN1 162282 broad.mit.edu 37 17 54558083 54558083 + Silent SNP G G A TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr17:54558083G>A ENST00000566473.2 + 16 2004 c.2004G>A c.(2002-2004)gtG>gtA p.V668V ANKFN1_ENST00000318698.2_Silent_p.V668V Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 668 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 TGGAAAGTGTGGATCATACTT 0.413 13 116 --- --- --- --- CLTC 1213 broad.mit.edu 37 17 57733350 57733350 + Missense_Mutation SNP G G A TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr17:57733350G>A ENST00000269122.3 + 6 1205 c.931G>A c.(931-933)Gcc>Acc p.A311T CLTC_ENST00000393043.1_Missense_Mutation_p.A311T|CLTC_ENST00000579456.1_Intron NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 311 Globular terminal domain. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity p.A311S(1) CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) ACCTCATGAAGCCACAGCTGG 0.378 T """ALK, TFE3""" """ALCL, renal """ 15 51 --- --- --- --- ZNF396 252884 broad.mit.edu 37 18 32949299 32949299 + Missense_Mutation SNP C C A TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr18:32949299C>A ENST00000306346.1 - 4 1019 c.888G>T c.(886-888)caG>caT p.Q296H ZNF396_ENST00000589332.1_Missense_Mutation_p.Q296H NM_145756.2 NP_665699.1 Q96N95 ZN396_HUMAN zinc finger protein 396 296 viral reproduction cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1) 7 TTCGTCGATGCTGAATCAGAA 0.448 3 48 --- --- --- --- GEMIN7 79760 broad.mit.edu 37 19 45593388 45593388 + Missense_Mutation SNP A A G TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chr19:45593388A>G ENST00000270257.4 + 3 263 c.16A>G c.(16-18)Aac>Gac p.N6D GEMIN7_ENST00000391951.2_Missense_Mutation_p.N6D|GEMIN7_ENST00000591607.1_Missense_Mutation_p.N6D|CTB-179K24.3_ENST00000586556.1_RNA|GEMIN7_ENST00000591747.1_Missense_Mutation_p.N6D|CTB-179K24.3_ENST00000586744.1_RNA NM_001007269.1|NM_001007270.1|NM_024707.2 NP_001007270.1|NP_001007271.1|NP_078983.1 Q9H840 GEMI7_HUMAN gem (nuclear organelle) associated protein 7 6 ncRNA metabolic process|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding endometrium(1)|kidney(1)|lung(4)|ovary(1) 7 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0131) AACTCCAGTGAACATTCCCGT 0.577 35 134 --- --- --- --- SSX5 6758 broad.mit.edu 37 X 48054234 48054234 + Silent SNP G G A TCGA-EJ-7785-01A-11D-2114-08 TCGA-EJ-7785-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b2182a4-8ac1-4d66-be12-cdd906a100a2 f10f7adf-7754-44c5-97cf-66a7b5138f24 g.chrX:48054234G>A ENST00000311798.1 - 4 301 c.249C>T c.(247-249)gcC>gcT p.A83A SSX5_ENST00000376923.1_Silent_p.A42A|SSX5_ENST00000347757.1_Silent_p.A42A NM_021015.3 NP_066295.3 O60225 SSX5_HUMAN synovial sarcoma, X breakpoint 5 42 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1) 18 TTTTCTCCGAGGCTTTCATCT 0.388 14 30 --- --- --- ---