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 MYH7 4625 broad.mit.edu 37 14 23887583 23887583 + Silent SNP C C T rs144465613 byFrequency TCGA-J4-AATV-01A-11D-A41K-08 TCGA-J4-AATV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fbdfb5d-faed-48d4-a2e3-daea6ac7e9b1 93f8b7dd-abc6-4e05-b850-16523635aa29 g.chr14:23887583C>T ENST00000355349.3 - 30 4167 c.4005G>A c.(4003-4005)tcG>tcA p.S1335S NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S1335S(3) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CATGCCGGGCCGACTGCAGTG 0.662000 4 37 0 0 1 0 0 TBC1D2 55357 broad.mit.edu 37 9 101014206 101014206 + Silent SNP G G A rs143910740 TCGA-J4-AATV-01A-11D-A41K-08 TCGA-J4-AATV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fbdfb5d-faed-48d4-a2e3-daea6ac7e9b1 93f8b7dd-abc6-4e05-b850-16523635aa29 g.chr9:101014206G>A ENST00000375066.5 - 2 463 c.372C>T c.(370-372)gcC>gcT p.A124A TBC1D2_ENST00000375064.1_Silent_p.A124A|TBC1D2_ENST00000342112.5_Intron NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 124 Interaction with CADH1.|PH. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) GCTTGGTGGCGGCCTGAGAAG 0.607000 3 57 0 0 1 0 0 EIF3J 8669 broad.mit.edu 37 15 44829572 44829572 + Missense_Mutation SNP G G T TCGA-J4-AATV-01A-11D-A41K-08 TCGA-J4-AATV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fbdfb5d-faed-48d4-a2e3-daea6ac7e9b1 93f8b7dd-abc6-4e05-b850-16523635aa29 g.chr15:44829572G>T ENST00000261868.5 + 2 232 c.94G>T c.(94-96)Ggc>Tgc p.G32C EIF3J_ENST00000424492.3_Missense_Mutation_p.G32C|EIF3J_ENST00000535391.1_Missense_Mutation_p.G32C NM_003758.2 NP_003749.2 O75822 EIF3J_HUMAN eukaryotic translation initiation factor 3, subunit J 32 Poly-Gly.|Sufficient for interaction with EIF3B. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity endometrium(1)|large_intestine(5)|liver(2)|skin(1) 9 all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758) GGGGGGCGGCGGCACTGCCGG 0.721000 2 2 1 1 1 1 0 ATP11C 286410 broad.mit.edu 37 X 138856996 138856996 + Missense_Mutation SNP A A G TCGA-J4-AATV-01A-11D-A41K-08 TCGA-J4-AATV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fbdfb5d-faed-48d4-a2e3-daea6ac7e9b1 93f8b7dd-abc6-4e05-b850-16523635aa29 g.chrX:138856996A>G ENST00000370557.1 - 19 3096 c.2069T>C c.(2068-2070)cTt>cCt p.L690P ATP11C_ENST00000370543.1_Missense_Mutation_p.L693P|ATP11C_ENST00000361648.2_Missense_Mutation_p.L693P|ATP11C_ENST00000359686.2_Missense_Mutation_p.L693P|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Missense_Mutation_p.L693P Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 693 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) GGTCTGGAAAAGGCGGCAGGC 0.453000 3 74 0 0 1 0 0 ZNF518A 9849 broad.mit.edu 37 10 97918507 97918507 + RNA SNP C C T TCGA-J4-AATV-01A-11D-A41K-08 TCGA-J4-AATV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fbdfb5d-faed-48d4-a2e3-daea6ac7e9b1 93f8b7dd-abc6-4e05-b850-16523635aa29 g.chr10:97918507C>T ENST00000534948.1 + 0 3285 Q6AHZ1 Z518A_HUMAN zinc finger protein 518A regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) TAAAGGCTTGCCACTTCATTG 0.383000 3 26 0 0 1 0 0 C1orf216 127703 broad.mit.edu 37 1 36181895 36181895 + Nonsense_Mutation SNP C C A TCGA-J4-AATV-01A-11D-A41K-08 TCGA-J4-AATV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fbdfb5d-faed-48d4-a2e3-daea6ac7e9b1 93f8b7dd-abc6-4e05-b850-16523635aa29 g.chr1:36181895C>A ENST00000270815.4 - 2 798 c.28G>T c.(28-30)Gag>Tag p.E10* C1orf216_ENST00000503824.1_5'UTR NM_152374.1 NP_689587.1 Q8TAB5 CA216_HUMAN chromosome 1 open reading frame 216 10 kidney(2)|lung(3)|skin(2)|urinary_tract(1) 8 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) TGGCCCCCCTCAGCTAGCCCT 0.572000 OREG0013357 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 18 1 1 1 1 0 CAPN6 827 broad.mit.edu 37 X 110494483 110494483 + Missense_Mutation SNP C C A TCGA-J4-AATV-01A-11D-A41K-08 TCGA-J4-AATV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fbdfb5d-faed-48d4-a2e3-daea6ac7e9b1 93f8b7dd-abc6-4e05-b850-16523635aa29 g.chrX:110494483C>A ENST00000324068.1 - 7 1092 c.925G>T c.(925-927)Gat>Tat p.D309Y CAPN6_ENST00000541758.1_Missense_Mutation_p.D54Y NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 309 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 TTCTTGCGATCTGATGCAGTC 0.398000 3 32 0.115264 0.129672 1 1 0 GTF3C1 2975 broad.mit.edu 37 16 27472773 27472773 + Silent SNP G G A TCGA-J4-AATV-01A-11D-A41K-08 TCGA-J4-AATV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fbdfb5d-faed-48d4-a2e3-daea6ac7e9b1 93f8b7dd-abc6-4e05-b850-16523635aa29 g.chr16:27472773G>A ENST00000356183.4 - 37 6243 c.6228C>T c.(6226-6228)gaC>gaT p.D2076D GTF3C1_ENST00000561623.1_Silent_p.D2051D NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 2076 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 TGGGGCTCTCGTCCAGGCTGG 0.617000 5 87 0 0 1 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185903 127185903 + Missense_Mutation SNP G G A TCGA-J4-AATV-01A-11D-A41K-08 TCGA-J4-AATV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fbdfb5d-faed-48d4-a2e3-daea6ac7e9b1 93f8b7dd-abc6-4e05-b850-16523635aa29 g.chrX:127185903G>A ENST00000371124.3 - 1 479 c.283C>T c.(283-285)Cgg>Tgg p.R95W NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 95 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 CCAAGCTCCCGCTCAAAGAGA 0.473000 4 166 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23887535 23887535 + Silent SNP C C T TCGA-J4-AATV-01A-11D-A41K-08 TCGA-J4-AATV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fbdfb5d-faed-48d4-a2e3-daea6ac7e9b1 93f8b7dd-abc6-4e05-b850-16523635aa29 g.chr14:23887535C>T ENST00000355349.3 - 30 4215 c.4053G>A c.(4051-4053)acG>acA p.T1351T NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1351 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.T1351T(1) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CCTTGGCCTCCGTCTCCTCCT 0.672000 3 69 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-J4-AATV-01A-11D-A41K-08 TCGA-J4-AATV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fbdfb5d-faed-48d4-a2e3-daea6ac7e9b1 93f8b7dd-abc6-4e05-b850-16523635aa29 g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 4 23 0 0 1 0 0 IKZF3 22806 broad.mit.edu 37 17 37985743 37985743 + Splice_Site SNP T T G TCGA-J4-AATV-01A-11D-A41K-08 TCGA-J4-AATV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fbdfb5d-faed-48d4-a2e3-daea6ac7e9b1 93f8b7dd-abc6-4e05-b850-16523635aa29 g.chr17:37985743T>G ENST00000346872.3 - 3 123 c.e3-2 IKZF3_ENST00000377958.2_Splice_Site|IKZF3_ENST00000351680.3_Splice_Site|IKZF3_ENST00000350532.3_Splice_Site|IKZF3_ENST00000346243.3_Splice_Site|IKZF3_ENST00000394189.2_Splice_Site|IKZF3_ENST00000467757.1_Splice_Site|IKZF3_ENST00000377944.3_Splice_Site|IKZF3_ENST00000377945.3_Splice_Site|IKZF3_ENST00000439016.2_Splice_Site|IKZF3_ENST00000535189.1_Intron|IKZF3_ENST00000439167.2_Intron|IKZF3_ENST00000377952.2_Splice_Site NM_012481.4 NP_036613.2 Q9UKT9 IKZF3_HUMAN IKAROS family zinc finger 3 (Aiolos) B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CTGCACTTTCTAAAAGATAAA 0.348000 4 59 0 0 1 0 0 ZNF106 64397 broad.mit.edu 37 15 42740292 42740292 + Missense_Mutation SNP C C A TCGA-J4-AATV-01A-11D-A41K-08 TCGA-J4-AATV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fbdfb5d-faed-48d4-a2e3-daea6ac7e9b1 93f8b7dd-abc6-4e05-b850-16523635aa29 g.chr15:42740292C>A ENST00000263805.4 - 3 3370 c.3044G>T c.(3043-3045)aGa>aTa p.R1015I ZNF106_ENST00000565380.1_Missense_Mutation_p.R243I|ZNF106_ENST00000565611.1_Missense_Mutation_p.R200I NM_022473.1 NP_071918.1 zinc finger protein 106 TCGTTTCTTTCTAATACTTTG 0.448000 4 124 0.014758 0.0177096 1 1 0 TRIM48 79097 broad.mit.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-J4-AATV-01A-11D-A41K-08 TCGA-J4-AATV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fbdfb5d-faed-48d4-a2e3-daea6ac7e9b1 93f8b7dd-abc6-4e05-b850-16523635aa29 g.chr11:55035844T>C ENST00000417545.2 + 4 660 c.574T>C c.(574-576)Tac>Cac p.Y192H NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 176 intracellular zinc ion binding p.Y192H(11)|p.Y176H(11) endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 AGACATATTATACAGGTGAGT 0.338000 4 70 0 0 1 0 0 NADK 65220 broad.mit.edu 37 1 1688587 1688588 + Frame_Shift_Ins INS - - C TCGA-J4-AATV-01A-11D-A41K-08 TCGA-J4-AATV-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fbdfb5d-faed-48d4-a2e3-daea6ac7e9b1 93f8b7dd-abc6-4e05-b850-16523635aa29 g.chr1:1688587_1688588insC ENST00000344463.4 - 6 958_959 c.737_738insG c.(736-738)ggcfs p.G246fs NADK_ENST00000342348.5_Intron|NADK_ENST00000378625.1_Frame_Shift_Ins_p.G246fs|NADK_ENST00000492768.1_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000341426.5_Intron O95544 NADK_HUMAN NAD kinase 131 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|protein binding NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1) 17 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) CTCCATGTGCACCCCAGGCCCC 0.634 2 4 --- --- --- ---