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 HIST1H1E 3008 broad.mit.edu 37 6 26156924 26156924 + Silent SNP G G T TCGA-DA-A3F2-06A-11D-A20D-08 TCGA-DA-A3F2-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 635a1c2f-50dd-4f35-b90c-d83ca860fba1 330fdd5b-7536-4de7-be64-511963e75655 g.chr6:26156924G>T ENST00000304218.3 + 1 366 c.306G>T c.(304-306)tcG>tcT p.S102S NM_005321.2 NP_005312.1 P10412 H14_HUMAN histone cluster 1, H1e 102 H15. nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 26 CCGGCGCGTCGGGTTCCTTCA 0.612000 3 70 0.150653 0.159023 1 1 0 MUC4 4585 broad.mit.edu 37 3 195511945 195511945 + Missense_Mutation SNP G G A TCGA-DA-A3F2-06A-11D-A20D-08 TCGA-DA-A3F2-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 635a1c2f-50dd-4f35-b90c-d83ca860fba1 330fdd5b-7536-4de7-be64-511963e75655 g.chr3:195511945G>A ENST00000463781.3 - 2 6965 c.6506C>T c.(6505-6507)gCa>gTa p.A2169V MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A2169V|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 948 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.A2169V(4) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACCTGTGGATGCTGAGGAAGT 0.572000 3 12 0 0 1 0 0 TAOK2 9344 broad.mit.edu 37 16 29998500 29998500 + Silent SNP G G C TCGA-DA-A3F2-06A-11D-A20D-08 TCGA-DA-A3F2-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 635a1c2f-50dd-4f35-b90c-d83ca860fba1 330fdd5b-7536-4de7-be64-511963e75655 g.chr16:29998500G>C ENST00000308893.4 + 16 3950 c.2907G>C c.(2905-2907)ctG>ctC p.L969L TAOK2_ENST00000543033.1_Silent_p.L856L|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Silent_p.L796L NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 969 Leu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 TGCCCCTCCTGCTGCTGCTGC 0.711000 3 88 0 0 1 0 0 MYH10 4628 broad.mit.edu 37 17 8397110 8397110 + Missense_Mutation SNP C C G TCGA-DA-A3F2-06A-11D-A20D-08 TCGA-DA-A3F2-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 635a1c2f-50dd-4f35-b90c-d83ca860fba1 330fdd5b-7536-4de7-be64-511963e75655 g.chr17:8397110C>G ENST00000360416.3 - 32 4288 c.4150G>C c.(4150-4152)Gag>Cag p.E1384Q MYH10_ENST00000396239.1_Missense_Mutation_p.E1374Q|MYH10_ENST00000269243.4_Missense_Mutation_p.E1353Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E1369Q NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 1353 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TCCTCCTCCTCCTGCTGCTCC 0.587000 3 71 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-DA-A3F2-06A-11D-A20D-08 TCGA-DA-A3F2-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 635a1c2f-50dd-4f35-b90c-d83ca860fba1 330fdd5b-7536-4de7-be64-511963e75655 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 3 59 0 0 1 0 0 CYP2D7 1564 broad.mit.edu 37 22 42538870 42538870 + RNA SNP A A C rs2982057 by1000genomes TCGA-DA-A3F2-06A-11D-A20D-08 TCGA-DA-A3F2-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 635a1c2f-50dd-4f35-b90c-d83ca860fba1 330fdd5b-7536-4de7-be64-511963e75655 g.chr22:42538870A>C ENST00000433992.1 - 0 475 CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA endometrium(1) 1 CCATAGCGCGACAGGAACACC 0.687000 3 52 0 0 1 0 0 GGT3P 2679 broad.mit.edu 37 22 18778601 18778601 + RNA SNP C C T TCGA-DA-A3F2-06A-11D-A20D-08 TCGA-DA-A3F2-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 635a1c2f-50dd-4f35-b90c-d83ca860fba1 330fdd5b-7536-4de7-be64-511963e75655 g.chr22:18778601C>T ENST00000412448.1 - 0 804 GCTTGGCATCCGCGGCCACGG 0.627000 6 12 0 0 1 0 0 ZNF708 7562 broad.mit.edu 37 19 21476519 21476519 + Missense_Mutation SNP T T C TCGA-DA-A3F2-06A-11D-A20D-08 TCGA-DA-A3F2-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 635a1c2f-50dd-4f35-b90c-d83ca860fba1 330fdd5b-7536-4de7-be64-511963e75655 g.chr19:21476519T>C ENST00000356929.3 - 4 1446 c.1249A>G c.(1249-1251)Aag>Gag p.K417E NM_021269.2 NP_067092.2 P17019 ZN708_HUMAN zinc finger protein 708 417 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1) 32 TAGGGTTTCTTTCCAGTATGA 0.343000 3 57 0 0 1 0 0 TSPAN4 7106 broad.mit.edu 37 11 864455 864455 + Missense_Mutation SNP C C G TCGA-DA-A3F2-06A-11D-A20D-08 TCGA-DA-A3F2-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 635a1c2f-50dd-4f35-b90c-d83ca860fba1 330fdd5b-7536-4de7-be64-511963e75655 g.chr11:864455C>G ENST00000397404.1 + 5 533 c.274C>G c.(274-276)Ctg>Gtg p.L92V TSPAN4_ENST00000397408.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000346501.4_Missense_Mutation_p.L92V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000409531.1_Missense_Mutation_p.L111V|TSPAN4_ENST00000397411.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397397.2_Missense_Mutation_p.L92V NM_001025237.1 NP_001020408.1 O14817 TSN4_HUMAN tetraspanin 4 92 protein complex assembly integral to plasma membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCTGCTGCTGCTGGTGTTCCT 0.672000 4 175 0 0 1 0 0 MUC20 200958 broad.mit.edu 37 3 195453332 195453332 + Missense_Mutation SNP G G A TCGA-DA-A3F2-06A-11D-A20D-08 TCGA-DA-A3F2-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 635a1c2f-50dd-4f35-b90c-d83ca860fba1 330fdd5b-7536-4de7-be64-511963e75655 g.chr3:195453332G>A ENST00000320736.6 + 3 1471 c.1345G>A c.(1345-1347)Ggg>Agg p.G449R MUC20_ENST00000445522.2_Missense_Mutation_p.G585R|MUC20_ENST00000447234.2_Missense_Mutation_p.G620R|MUC20_ENST00000436408.1_Missense_Mutation_p.G620R NM_001098516.1|NM_152673.2 NP_001091986.1|NP_689886.2 Q8N307 MUC20_HUMAN mucin 20, cell surface associated 620 protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) CAGCAGCCGAGGGACGAACAG 0.612000 4 177 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109701290 109701290 + Missense_Mutation SNP T T C TCGA-DA-A3F2-06A-11D-A20D-08 TCGA-DA-A3F2-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 635a1c2f-50dd-4f35-b90c-d83ca860fba1 330fdd5b-7536-4de7-be64-511963e75655 g.chr9:109701290T>C ENST00000277225.5 + 7 6618 c.6329T>C c.(6328-6330)cTg>cCg p.L2110P ZNF462_ENST00000441147.2_Missense_Mutation_p.L1016P|ZNF462_ENST00000542028.1_Missense_Mutation_p.L67P|ZNF462_ENST00000457913.1_Missense_Mutation_p.L2170P Q96JM2 ZN462_HUMAN zinc finger protein 462 2110 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 GGAAAAGCCCTGACCCTCCCC 0.557000 6 340 0 0 1 0 0 TOR1AIP2 163590 broad.mit.edu 37 1 179815714 179815714 + Missense_Mutation SNP C C A TCGA-DA-A3F2-06A-11D-A20D-08 TCGA-DA-A3F2-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 635a1c2f-50dd-4f35-b90c-d83ca860fba1 330fdd5b-7536-4de7-be64-511963e75655 g.chr1:179815714C>A ENST00000367612.3 - 6 1292 c.905G>T c.(904-906)cGg>cTg p.R302L NM_001199260.1|NM_145034.4 NP_001186189.1|NP_659471.1 Q8NFQ8 TOIP2_HUMAN torsin A interacting protein 2 302 endoplasmic reticulum membrane|integral to membrane protein binding p.R302L(1) cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2) 18 TCTTCCCTCCCGAGCTGCTGT 0.542000 4 141 1 1 1 1 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-DA-A3F2-06A-11D-A20D-08 TCGA-DA-A3F2-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 635a1c2f-50dd-4f35-b90c-d83ca860fba1 330fdd5b-7536-4de7-be64-511963e75655 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 3 59 0 0 1 0 0 CLASP2 23122 broad.mit.edu 37 3 33602361 33602361 + Frame_Shift_Del DEL T T - TCGA-DA-A3F2-06A-11D-A20D-08 TCGA-DA-A3F2-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 635a1c2f-50dd-4f35-b90c-d83ca860fba1 330fdd5b-7536-4de7-be64-511963e75655 g.chr3:33602361delT ENST00000399362.4 - 28 3243 c.2890delA c.(2890-2892)tgfs p.M964fs CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs|CLASP2_ENST00000468888.2_Frame_Shift_Del_p.M965fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs|CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 966 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 TCAGCACCCATTTTTTTTAGT 0.343 8 163 --- --- --- --- HTT 3064 broad.mit.edu 37 4 3076604 3076609 + In_Frame_Del DEL CAGCAG CAGCAG - rs71180116 TCGA-DA-A3F2-06A-11D-A20D-08 TCGA-DA-A3F2-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 635a1c2f-50dd-4f35-b90c-d83ca860fba1 330fdd5b-7536-4de7-be64-511963e75655 g.chr4:3076604_3076609delCAGCAG ENST00000355072.5 + 1 197_202 c.52_57delCAGCAG c.(52-57)del p.QQ36del NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 36 Poly-Gln. establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CAAGTCCTTCcagcagcagcagcagc 0.704 3 4 --- --- --- --- LOC153910 153910 broad.mit.edu 37 6 142860298 142860299 + RNA INS - - T rs143051118 by1000genomes TCGA-DA-A3F2-06A-11D-A20D-08 TCGA-DA-A3F2-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 635a1c2f-50dd-4f35-b90c-d83ca860fba1 330fdd5b-7536-4de7-be64-511963e75655 g.chr6:142860298_142860299insT ENST00000447311.1 - 0 364 NR_027312.1 ttaggccagtatttttttttta 0.470 4 2 --- --- --- --- RP11-519G16.3 0 broad.mit.edu 37 15 45756124 45756128 + RNA DEL CTCCA CTCCA - rs71700299 TCGA-DA-A3F2-06A-11D-A20D-08 TCGA-DA-A3F2-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 635a1c2f-50dd-4f35-b90c-d83ca860fba1 330fdd5b-7536-4de7-be64-511963e75655 g.chr15:45756124_45756128delCTCCA ENST00000560077.1 + 0 41 RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA ccatcaccatctccacaccatcacc 0.551 2 4 --- --- --- --- LINC00162 378825 broad.mit.edu 37 21 46422090 46422091 + RNA INS - - A TCGA-DA-A3F2-06A-11D-A20D-08 TCGA-DA-A3F2-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 635a1c2f-50dd-4f35-b90c-d83ca860fba1 330fdd5b-7536-4de7-be64-511963e75655 g.chr21:46422090_46422091insA ENST00000422199.1 - 0 284 NR_024089.1 gggggttggggaagggtggggc 0.703 2 4 --- --- --- ---