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 GCG 2641 broad.mit.edu 37 2 163005635 163005635 + Silent SNP G G A TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr2:163005635G>A ENST00000418842.2 - 2 308 c.54C>T c.(52-54)agC>agT p.S18S GCG_ENST00000375497.3_Silent_p.S18S NM_002054.4 NP_002045.1 P01275 GLUC_HUMAN glucagon 18 cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion plasma membrane|soluble fraction hormone activity breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9) 14 Exenatide(DB01276)|Phentolamine(DB00692) AACGTTGCCAGCTGCCTTGTA 0.438 10 77 --- --- --- --- SPATA31A6 389730 broad.mit.edu 37 9 43627235 43627235 + Missense_Mutation SNP T T A TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr9:43627235T>A ENST00000332857.6 - 4 1480 c.1452A>T c.(1450-1452)caA>caT p.Q484H NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 TGGGCAGGAATTGGGGTGTGG 0.537 30 142 --- --- --- --- FAM171A1 221061 broad.mit.edu 37 10 15255016 15255016 + Silent SNP G G A TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr10:15255016G>A ENST00000378116.4 - 8 2577 c.2571C>T c.(2569-2571)caC>caT p.H857H NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 857 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 CCTCTTCCTCGTGGGCAGATC 0.592 6 68 --- --- --- --- TET1 80312 broad.mit.edu 37 10 70332588 70332588 + Missense_Mutation SNP G G C TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr10:70332588G>C ENST00000373644.4 + 2 702 c.493G>C c.(493-495)Gtc>Ctc p.V165L NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 165 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 AGACACCCAAGTCCTTCCTGA 0.398 4 39 --- --- --- --- BAHD1 22893 broad.mit.edu 37 15 40754435 40754435 + Missense_Mutation SNP G G A rs143007309 TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr15:40754435G>A ENST00000561234.1 + 3 2013 c.1754G>A c.(1753-1755)cGc>cAc p.R585H BAHD1_ENST00000416165.1_Missense_Mutation_p.R586H|BAHD1_ENST00000560846.1_Missense_Mutation_p.R586H Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 586 Arg-rich. heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 28 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) CGCCGTCGCCGCCGCACTAAT 0.647 4 95 --- --- --- --- PLCG2 5336 broad.mit.edu 37 16 81965227 81965227 + Missense_Mutation SNP A A G TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr16:81965227A>G ENST00000359376.3 + 25 2921 c.2707A>G c.(2707-2709)Atc>Gtc p.I903V NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 903 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 GTTTCAGAGCATCCGAGAGAT 0.577 5 61 --- --- --- --- ZCCHC14 23174 broad.mit.edu 37 16 87445898 87445898 + Missense_Mutation SNP C C A TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr16:87445898C>A ENST00000268616.4 - 12 2235 c.2018G>T c.(2017-2019)cGg>cTg p.R673L NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 673 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) CAGAGCAGTCCGGGGGTTTAT 0.507 9 73 --- --- --- --- TSR1 55720 broad.mit.edu 37 17 2236286 2236286 + Missense_Mutation SNP T T C TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr17:2236286T>C ENST00000301364.5 - 7 2353 c.1274A>G c.(1273-1275)gAa>gGa p.E425G NM_018128.4 NP_060598.3 Q2NL82 TSR1_HUMAN TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) Glu-rich. ribosome assembly nucleolus protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 20 ATCCTCATGTTCCATATCATC 0.448 5 28 --- --- --- --- ATG4D 84971 broad.mit.edu 37 19 10663643 10663643 + Missense_Mutation SNP A A G TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr19:10663643A>G ENST00000309469.4 + 10 1498 c.1325A>G c.(1324-1326)gAc>gGc p.D442G ATG4D_ENST00000540862.1_Missense_Mutation_p.D109G NM_032885.4 NP_116274.3 Q86TL0 ATG4D_HUMAN autophagy related 4D, cysteine peptidase 442 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 19 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) AGCCTGGACGACCTCTGCTCC 0.642 3 61 --- --- --- ---