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 CNNM2 54805 broad.mit.edu 37 10 104678762 104678762 + Silent SNP C C T TCGA-M7-A723-01A-12D-A32B-08 TCGA-M7-A723-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18514ecc-f430-455b-8ee0-b9f5aff63989 d7b480d0-6d85-42ff-9c69-04d1d9fca8f9 g.chr10:104678762C>T ENST00000369878.3 + 1 649 c.525C>T c.(523-525)atC>atT p.I175I CNNM2_ENST00000433628.2_Silent_p.I175I|CNNM2_ENST00000369875.3_Silent_p.I175I NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin M2 175 ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) TCATCGAGATCGAGATCAAAC 0.637000 6 176 0 0 1 0 0 VPS39 23339 broad.mit.edu 37 15 42453958 42453958 + Missense_Mutation SNP C C T TCGA-M7-A723-01A-12D-A32B-08 TCGA-M7-A723-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18514ecc-f430-455b-8ee0-b9f5aff63989 d7b480d0-6d85-42ff-9c69-04d1d9fca8f9 g.chr15:42453958C>T ENST00000318006.5 - 24 2636 c.2474G>A c.(2473-2475)cGg>cAg p.R825Q VPS39_ENST00000348544.4_Missense_Mutation_p.R836Q NM_015289.2 NP_056104.2 Q96JC1 VPS39_HUMAN vacuolar protein sorting 39 homolog (S. cerevisiae) 836 protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) GTGTAAAATCCGCTCTTCCTG 0.517000 7 167 0 0 1 0 0 IGDCC4 57722 broad.mit.edu 37 15 65686765 65686765 + Silent SNP G G A rs144581941 byFrequency TCGA-M7-A723-01A-12D-A32B-08 TCGA-M7-A723-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18514ecc-f430-455b-8ee0-b9f5aff63989 d7b480d0-6d85-42ff-9c69-04d1d9fca8f9 g.chr15:65686765G>A ENST00000352385.2 - 9 1907 c.1698C>T c.(1696-1698)taC>taT p.Y566Y NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 566 Fibronectin type-III 2. integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 TTCCCAAACCGTATTCTATCT 0.602000 7 145 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22913059 22913059 + Missense_Mutation SNP G G A TCGA-M7-A723-01A-12D-A32B-08 TCGA-M7-A723-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18514ecc-f430-455b-8ee0-b9f5aff63989 d7b480d0-6d85-42ff-9c69-04d1d9fca8f9 g.chr1:22913059G>A ENST00000166244.3 + 4 982 c.910G>A c.(910-912)Gcc>Acc p.A304T EPHA8_ENST00000374644.4_Missense_Mutation_p.A304T|EPHA8_ENST00000538803.1_Missense_Mutation_p.A304T NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 304 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity p.A304T(2) breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) AGCTCCAGCCGCCCAAGCCTG 0.657000 3 39 0 0 1 0 0 USP29 0 broad.mit.edu 37 19 57641660 57641660 + Silent SNP T T G TCGA-M7-A723-01A-12D-A32B-08 TCGA-M7-A723-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18514ecc-f430-455b-8ee0-b9f5aff63989 d7b480d0-6d85-42ff-9c69-04d1d9fca8f9 g.chr19:57641660T>G ENST00000254181.4 + 4 2071 c.1617T>G c.(1615-1617)tcT>tcG p.S539S USP29_ENST00000598197.1_Silent_p.S539S NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 539 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GTTTATCTTCTTATTGCAATG 0.403000 6 159 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139397709 139397709 + Missense_Mutation SNP C C T TCGA-M7-A723-01A-12D-A32B-08 TCGA-M7-A723-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18514ecc-f430-455b-8ee0-b9f5aff63989 d7b480d0-6d85-42ff-9c69-04d1d9fca8f9 g.chr9:139397709C>T ENST00000277541.6 - 27 5167 c.5092G>A c.(5092-5094)Gac>Aac p.D1698N NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1698 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GCGGCCACGTCGGTGGCACTC 0.637000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 3 30 0 0 1 0 0 TEX14 56155 broad.mit.edu 37 17 56676544 56676544 + Missense_Mutation SNP G G A rs146894476 byFrequency TCGA-M7-A723-01A-12D-A32B-08 TCGA-M7-A723-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18514ecc-f430-455b-8ee0-b9f5aff63989 d7b480d0-6d85-42ff-9c69-04d1d9fca8f9 g.chr17:56676544G>A ENST00000389934.3 - 14 2279 c.2162C>T c.(2161-2163)aCg>aTg p.T721M TEX14_ENST00000240361.8_Missense_Mutation_p.T727M|TEX14_ENST00000349033.5_Missense_Mutation_p.T721M NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 727 cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTCCTCAGTCGTGGACATGTT 0.438000 4 214 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150917382 150917382 + Silent SNP C C T TCGA-M7-A723-01A-12D-A32B-08 TCGA-M7-A723-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18514ecc-f430-455b-8ee0-b9f5aff63989 d7b480d0-6d85-42ff-9c69-04d1d9fca8f9 g.chr5:150917382C>T ENST00000261800.5 - 11 9177 c.9165G>A c.(9163-9165)gcG>gcA p.A3055A NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3055 Cadherin 27. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding p.A3055A(1) NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGAATTCATGCGCCCCAGGGC 0.458000 3 48 0 0 1 0 0 MYO1E 4643 broad.mit.edu 37 15 59506877 59506877 + Missense_Mutation SNP T T A TCGA-M7-A723-01A-12D-A32B-08 TCGA-M7-A723-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18514ecc-f430-455b-8ee0-b9f5aff63989 d7b480d0-6d85-42ff-9c69-04d1d9fca8f9 g.chr15:59506877T>A ENST00000288235.4 - 11 1549 c.1150A>T c.(1150-1152)Att>Ttt p.I384F NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE 384 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) AGGACGCCAATGTTGTATTCT 0.423000 5 121 0 0 1 0 0 TMEM17 200728 broad.mit.edu 37 2 62728401 62728401 + Silent SNP C C T TCGA-M7-A723-01A-12D-A32B-08 TCGA-M7-A723-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18514ecc-f430-455b-8ee0-b9f5aff63989 d7b480d0-6d85-42ff-9c69-04d1d9fca8f9 g.chr2:62728401C>T ENST00000335390.5 - 4 751 c.540G>A c.(538-540)cgG>cgA p.R180R NM_198276.2 NP_938017.2 Q86X19 TMM17_HUMAN transmembrane protein 17 180 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 9 Lung NSC(7;0.0274)|all_lung(7;0.0568) LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169) TTGCAGAGAGCCGGTCAAAGT 0.428000 4 75 0 0 1 0 0