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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut HIST1H1E 3008 broad.mit.edu 37 6 26156924 26156924 + Silent SNP G 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.chr6:26156924G>T uc003ngq.3 + 0 366 c.306G>T c.(304-306)tcG>tcT p.S102S HIST1H2BD_uc003ngr.3_5'Flank|HIST1H2BD_uc003ngs.3_5'Flank NM_005321 NP_005312 P10412 H14_HUMAN Homo sapiens histone cluster 1, H1e (HIST1H1E), mRNA. 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 70 3 0.150653 0.160069 1 1 0 CYP2D7P1 1564 broad.mit.edu 37 22 42538870 42538870 + Missense_Mutation SNP A C 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 uc003bci.3 - 2 475 c.94T>G c.(94-96)Tcg>Gcg p.S32A CYP2D7P1_uc003bcg.3_5'Flank|CYP2D7P1_uc010gyv.3_Intron|CYP2D7P1_uc010gyw.3_Non-coding_Transcript|CYP2D7P1_uc021wqk.1_5'Flank|CYP2D7P1_uc010gyx.1_Missense_Mutation_p.S32A Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1 (CYP2D7P1), non-coding RNA. endometrium(1) 1 CCATAGCGCGACAGGAACACC 0.687000 52 3 0 0 1 0 0 FLJ36000 284124 broad.mit.edu 37 17 21904204 21904204 + RNA SNP G 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.chr17:21904204G>T uc002gza.2 + 0 c.143G>T Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA. ctgccaggacggtgttcgggt 0.677000 174 11 0.010729 0.0121596 1 1 0 ZNF845 91664 broad.mit.edu 37 19 53855365 53855365 + Silent SNP A G 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.chr19:53855365A>G uc010ydv.1 + 3 1554 c.1437A>G c.(1435-1437)acA>acG p.T479T ZNF845_uc010ydw.1_Silent_p.T479T NM_138374 NP_612383 Q96IR2 ZN845_HUMAN Homo sapiens zinc finger protein 845 (ZNF845), mRNA. 479 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TCAGTCAGACATCATCCCTTG 0.378000 123 4 0 0 1 0 0 TOR1AIP2 163590 broad.mit.edu 37 1 179815714 179815714 + Missense_Mutation SNP C A 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 uc001gnl.3 - 6 1719 c.905G>T c.(904-906)cGg>cTg p.R302L TOR1AIP2_uc001gnk.3_Missense_Mutation_p.R302L NM_001199260 NP_001186189 Q8NFQ8 TOIP2_HUMAN Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript variant 3, mRNA. 302 endoplasmic reticulum membrane|integral to membrane protein binding p.R302L(2) cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2) 18 TCTTCCCTCCCGAGCTGCTGT 0.542000 141 4 1 1 1 1 0 MUC4 4585 broad.mit.edu 37 3 195511945 195511945 + Missense_Mutation SNP G A 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 uc021xjp.1 - 1 6662 c.6506C>T c.(6505-6507)gCa>gTa p.A2169V MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA. 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 12 3 0 0 1 0 0 PRB1 5542 broad.mit.edu 37 12 11506566 11506566 + Silent SNP C 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.chr12:11506566C>T uc001qzw.1 - 3 505 c.468G>A c.(466-468)aaG>aaA p.K156K PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron NM_005039 NP_005030 P04280 PRP1_HUMAN Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA. 157 15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5). extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) GTCCTTGTGGCTTTCCTGGAG 0.597000 69 6 0 0 1 0 0 GGT3P 2679 broad.mit.edu 37 22 18778601 18778601 + RNA SNP C 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.chr22:18778601C>T uc011ago.1 - 1 c.219G>A GGT3P_uc011agp.1_Non-coding_Transcript|GGT3P_uc002zob.1_Non-coding_Transcript Homo sapiens gamma-glutamyltransferase 3 pseudogene (GGT3P), non-coding RNA. GCTTGGCATCCGCGGCCACGG 0.627000 12 6 0 0 1 0 0 ZNF708 7562 broad.mit.edu 37 19 21476519 21476519 + Missense_Mutation SNP T C 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 uc002npq.1 - 3 1447 c.1249A>G c.(1249-1251)Aag>Gag p.K417E ZNF708_uc002npr.1_Missense_Mutation_p.K353E|ZNF708_uc010ecs.1_Missense_Mutation_p.K353E NM_021269 NP_067092 P17019 ZN708_HUMAN Homo sapiens zinc finger protein 708 (ZNF708), mRNA. 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 57 3 0 0 1 0 0 TAOK2 9344 broad.mit.edu 37 16 29998500 29998500 + Silent SNP G C 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 uc010bzm.2 + 14 2963 c.2928G>C c.(2926-2928)ctG>ctC p.L976L BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Silent_p.L856L|TAOK2_uc002dva.2_Silent_p.L969L|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Silent_p.L796L NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA. 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 88 3 0 0 1 0 0 BAGE1 0 broad.mit.edu 37 GL000237.1 2603 2603 + RNA SNP C G 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.chrGL000237.1:2603C>G uc011mgu.1 - 0 c.84G>C Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced. gttacaggctccagcctccag 0.612000 9 3 0 0 1 0 0 TUBA1B 10376 broad.mit.edu 37 12 49522057 49522057 + Missense_Mutation SNP C A 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.chr12:49522057C>A uc001rtm.3 - 3 1261 c.1040G>T c.(1039-1041)tGc>tTc p.C347F TUBA1B_uc021qxn.1_Missense_Mutation_p.C145F|TUBA1B_uc001rtl.3_Missense_Mutation_p.C312F|TUBA1A_uc010smg.1_5'UTR NM_006082 NP_006073 P68363 TBA1B_HUMAN Homo sapiens tubulin, alpha 1b (TUBA1B), mRNA. 347 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4) 12 GCCAGTGGGGCACCAATCCAC 0.557000 56 6 0.00307968 0.00373961 1 1 0 MYH10 4628 broad.mit.edu 37 17 8397110 8397110 + Missense_Mutation SNP C G 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 uc002glm.3 - 31 4246 c.4150G>C c.(4150-4152)Gag>Cag p.E1384Q MYH10_uc002gll.3_Missense_Mutation_p.E1353Q|MYH10_uc010cnx.3_Missense_Mutation_p.E1362Q NM_005964 NP_005955 P35580 MYH10_HUMAN Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA. 1353 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|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 71 3 0 0 1 0 0 CLASP2 23122 broad.mit.edu 37 3 33602361 33602361 + Frame_Shift_Del DEL 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 uc021wvc.1 - 27 3104 c.2893delA c.(2893-2895)atgfs p.M965fs CLASP2_uc003cfs.3_Frame_Shift_Del_p.M164fs|CLASP2_uc021wva.1_Frame_Shift_Del_p.M39fs|CLASP2_uc021wvb.1_Frame_Shift_Del_p.M744fs|CLASP2_uc011axt.1_Frame_Shift_Del_p.M557fs NM_015097 NP_055912 B2RTR1 B2RTR1_HUMAN Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA. 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 --- 164 --- --- 8 --- HTT 3064 broad.mit.edu 37 4 3076604 3076609 + In_Frame_Del DEL 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 uc021xkv.1 + 0 197_202 c.52_57delCAGCAG c.(52-57)cagcagdel p.QQ36del HTT-AS1_uc021xku.1_5'Flank NM_002111 NP_002102 P42858 HD_HUMAN Homo sapiens huntingtin (HTT), mRNA. 36 Poly-Gln. Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|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 --- 4 --- --- 3 ---