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 GOLGA6L10 647042 broad.mit.edu 37 15 83014132 83014132 + Missense_Mutation SNP C C G TCGA-06-0178-01A-01D-1491-08 TCGA-06-0178-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4fa779b-d116-4696-b170-60f3e215e9fb c9f63961-b124-468a-bff1-62c1aedd1805 g.chr15:83014132C>G uc021ssz.1 - 5 551 c.415G>C c.(415-417)Gag>Cag p.E139Q LOC440295_uc002bhl.2_Intron|GOLGA6L9_uc021ssr.1_Intron|LOC440295_uc002bhm.2_Intron|GOLGA6L10_uc021sta.1_Non-coding_Transcript A6NI86 GG6LA_HUMAN Homo sapiens golgin A6 family-like 10 (GOLGA6L10), mRNA. 151 p.E151Q(4) endometrium(1)|kidney(4) 5 GCTGGGGGCTCTGGGGCCAGG 0.522 MYO1D 4642 broad.mit.edu 37 17 31203857 31203857 + Frame_Shift_Del DEL C C - TCGA-06-0178-01A-01D-1491-08 TCGA-06-0178-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4fa779b-d116-4696-b170-60f3e215e9fb c9f63961-b124-468a-bff1-62c1aedd1805 g.chr17:31203857delC uc002hho.1 - 0 46 c.34delG c.(34-36)gcafs p.A12fs MYO1D_uc002hhp.1_Frame_Shift_Del_p.A12fs|MYO1D_uc010wcb.2_Frame_Shift_Del_p.A12fs NM_015194 NP_056009 O94832 MYO1D_HUMAN Homo sapiens myosin ID (MYO1D), mRNA. 12 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(9;0.0362) ACGAAGTCTGCCTTGCCGAAT 0.726 SYNE1 23345 broad.mit.edu 37 6 152665261 152665261 + Missense_Mutation SNP C C A rs4645434 byFrequency TCGA-06-0178-01A-01D-1491-08 TCGA-06-0178-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4fa779b-d116-4696-b170-60f3e215e9fb c9f63961-b124-468a-bff1-62c1aedd1805 g.chr6:152665261C>A uc021zhb.1 - 71 12403 c.12180G>T c.(12178-12180)gaG>gaT p.E4060D SYNE1_uc003qot.4_Missense_Mutation_p.E3989D|SYNE1_uc003qou.4_Missense_Mutation_p.E4060D|SYNE1_uc010kja.2_Missense_Mutation_p.E765D NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 4060 E -> D (in dbSNP:rs4645434). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.E4060D(5) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GAGGACTTGGCTCTAAATCCG 0.498 HNSCC(10;0.0054) LPAL2 80350 broad.mit.edu 37 6 160898160 160898160 + Splice_Site SNP C C T rs2048328 by1000genomes TCGA-06-0178-01A-01D-1491-08 TCGA-06-0178-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4fa779b-d116-4696-b170-60f3e215e9fb c9f63961-b124-468a-bff1-62c1aedd1805 g.chr6:160898160C>T uc003qtj.2 - 9 c.1505_splice c.e9+1 LPAL2_uc011efy.2_Splice_Site Homo sapiens lipoprotein, Lp(a)-like 2, pseudogene (LPAL2), transcript variant 2, non-coding RNA. large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) CAAAGACATACTCATTTGGGT 0.453 SFT2D1 113402 broad.mit.edu 37 6 166739646 166739646 + Missense_Mutation SNP T T C rs11551053 byFrequency TCGA-06-0178-01A-01D-1491-08 TCGA-06-0178-10B-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4fa779b-d116-4696-b170-60f3e215e9fb c9f63961-b124-468a-bff1-62c1aedd1805 g.chr6:166739646T>C uc003qux.3 - 4 347 c.325A>G c.(325-327)Ata>Gta p.I109V NM_145169 NP_660152 Q8WV19 SFT2A_HUMAN Homo sapiens SFT2 domain containing 1 (SFT2D1), mRNA. 109 I -> V (in dbSNP:rs11551053). protein transport|vesicle-mediated transport integral to membrane p.I109V(2) NS(1)|central_nervous_system(1)|large_intestine(3)|upper_aerodigestive_tract(1) 6 Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199) OV - Ovarian serous cystadenocarcinoma(33;2.63e-19)|BRCA - Breast invasive adenocarcinoma(81;4.92e-06)|GBM - Glioblastoma multiforme(31;4.58e-05) AGGGTAAATATGAAACACAAC 0.413