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 CHERP 10523 broad.mit.edu 37 19 16640580 16640580 + Silent SNP T T C TCGA-XK-AAJU-01A-11D-A41K-08 TCGA-XK-AAJU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e27c976-6830-4deb-9456-5e3615bf7cb0 ccf76f57-aae5-4baf-a1cc-56a0a59c143b g.chr19:16640580T>C ENST00000546361.2 - 8 1159 c.1008A>G c.(1006-1008)caA>caG p.Q336Q CHERP_ENST00000198939.6_Silent_p.Q347Q|CTD-3222D19.2_ENST00000409035.1_Intron NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 336 Gln-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding p.Q336Q(2) endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 gctgctgctgttgctgctgct 0.667000 3 24 0 0 1 0 0 CHERP 10523 broad.mit.edu 37 19 16640583 16640583 + Silent SNP C C T TCGA-XK-AAJU-01A-11D-A41K-08 TCGA-XK-AAJU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e27c976-6830-4deb-9456-5e3615bf7cb0 ccf76f57-aae5-4baf-a1cc-56a0a59c143b g.chr19:16640583C>T ENST00000546361.2 - 8 1156 c.1005G>A c.(1003-1005)caG>caA p.Q335Q CHERP_ENST00000198939.6_Silent_p.Q346Q|CTD-3222D19.2_ENST00000409035.1_Intron NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 335 Gln-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 gctgctgttgctgctgctgct 0.667000 3 25 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18778612 18778612 + RNA SNP C C T rs1055042 by1000genomes TCGA-XK-AAJU-01A-11D-A41K-08 TCGA-XK-AAJU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e27c976-6830-4deb-9456-5e3615bf7cb0 ccf76f57-aae5-4baf-a1cc-56a0a59c143b g.chr22:18778612C>T ENST00000412448.1 - 0 793 GCGGCCACGGCAGCCCTGGTG 0.637000 4 11 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162298 90162298 + RNA SNP C C T TCGA-XK-AAJU-01A-11D-A41K-08 TCGA-XK-AAJU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e27c976-6830-4deb-9456-5e3615bf7cb0 ccf76f57-aae5-4baf-a1cc-56a0a59c143b g.chr16:90162298C>T ENST00000567960.1 + 0 1034 TUBB8P7_ENST00000564451.1_RNA TGCTGACTGGCTCCCCAACAA 0.502000 6 202 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628251 29628251 + Missense_Mutation SNP A A G TCGA-XK-AAJU-01A-11D-A41K-08 TCGA-XK-AAJU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e27c976-6830-4deb-9456-5e3615bf7cb0 ccf76f57-aae5-4baf-a1cc-56a0a59c143b g.chr20:29628251A>G ENST00000278882.3 + 6 633 c.253A>G c.(253-255)Aat>Gat p.N85D FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D|FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D p.N85D(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTGGCCTCAAATAGCTGCTT 0.358000 9 111 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-XK-AAJU-01A-11D-A41K-08 TCGA-XK-AAJU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e27c976-6830-4deb-9456-5e3615bf7cb0 ccf76f57-aae5-4baf-a1cc-56a0a59c143b g.chr17:39296167A>G ENST00000345847.4 - 1 572 c.573T>C c.(571-573)atT>atC p.I191I NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 3 10 0 0 1 0 0 CCDC178 374864 broad.mit.edu 37 18 30795529 30795529 + Missense_Mutation SNP G G A TCGA-XK-AAJU-01A-11D-A41K-08 TCGA-XK-AAJU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e27c976-6830-4deb-9456-5e3615bf7cb0 ccf76f57-aae5-4baf-a1cc-56a0a59c143b g.chr18:30795529G>A ENST00000383096.3 - 19 2245 c.2063C>T c.(2062-2064)aCa>aTa p.T688I CCDC178_ENST00000402325.1_Missense_Mutation_p.T688I|CCDC178_ENST00000403303.1_Missense_Mutation_p.T688I|CCDC178_ENST00000583930.1_Missense_Mutation_p.T688I|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Missense_Mutation_p.T688I|CCDC178_ENST00000579947.1_Missense_Mutation_p.T688I|CCDC178_ENST00000300227.8_Missense_Mutation_p.T650I coiled-coil domain containing 178 TATTTCAAGTGTCTGATCAAA 0.209000 4 8 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-XK-AAJU-01A-11D-A41K-08 TCGA-XK-AAJU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e27c976-6830-4deb-9456-5e3615bf7cb0 ccf76f57-aae5-4baf-a1cc-56a0a59c143b g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 3 32 0 0 1 0 0 KCNJ4 3761 broad.mit.edu 37 22 38823832 38823832 + Silent SNP A A C TCGA-XK-AAJU-01A-11D-A41K-08 TCGA-XK-AAJU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e27c976-6830-4deb-9456-5e3615bf7cb0 ccf76f57-aae5-4baf-a1cc-56a0a59c143b g.chr22:38823832A>C ENST00000303592.3 - 2 564 c.306T>G c.(304-306)ggT>ggG p.G102G NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 102 Poly-Gly.|Val/Gly/Ala/Pro stretch. synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) CTCCGCCACCAcccgccgccg 0.687000 8 28 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162304 90162304 + RNA SNP A A G TCGA-XK-AAJU-01A-11D-A41K-08 TCGA-XK-AAJU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e27c976-6830-4deb-9456-5e3615bf7cb0 ccf76f57-aae5-4baf-a1cc-56a0a59c143b g.chr16:90162304A>G ENST00000567960.1 + 0 1040 TUBB8P7_ENST00000564451.1_RNA CTGGCTCCCCAACAACGTAAA 0.502000 4 199 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803493 142803493 + RNA SNP T T C rs80149641 by1000genomes TCGA-XK-AAJU-01A-11D-A41K-08 TCGA-XK-AAJU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e27c976-6830-4deb-9456-5e3615bf7cb0 ccf76f57-aae5-4baf-a1cc-56a0a59c143b g.chr1:142803493T>C ENST00000423385.1 - 0 1472 TGTACATTTATTATTGATTTA 0.323000 8 61 0 0 1 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-XK-AAJU-01A-11D-A41K-08 TCGA-XK-AAJU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e27c976-6830-4deb-9456-5e3615bf7cb0 ccf76f57-aae5-4baf-a1cc-56a0a59c143b g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 4 59 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16255142 16255143 + Frame_Shift_Del DEL GA GA - TCGA-XK-AAJU-01A-11D-A41K-08 TCGA-XK-AAJU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e27c976-6830-4deb-9456-5e3615bf7cb0 ccf76f57-aae5-4baf-a1cc-56a0a59c143b g.chr1:16255142_16255143delGA ENST00000375759.3 + 11 2611_2612 c.2407_2408delGA c.(2407-2409)gfs p.E803fs NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 803 Arg-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GGAGAGAGTGGAGAGAGAGAGA 0.431 7 116 --- --- --- --- MBD4 8930 broad.mit.edu 37 3 129155548 129155548 + Frame_Shift_Del DEL T T - TCGA-XK-AAJU-01A-11D-A41K-08 TCGA-XK-AAJU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e27c976-6830-4deb-9456-5e3615bf7cb0 ccf76f57-aae5-4baf-a1cc-56a0a59c143b g.chr3:129155548delT ENST00000429544.2 - 3 1134 c.939delA c.(937-939)aafs p.K313fs MBD4_ENST00000503197.1_Frame_Shift_Del_p.K313fs|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000249910.1_Frame_Shift_Del_p.K313fs|MBD4_ENST00000507208.1_Frame_Shift_Del_p.K313fs|MBD4_ENST00000509587.1_Intron NM_001276270.1 NP_001263199.1 O95243 MBD4_HUMAN methyl-CpG binding domain protein 4 313 depyrimidination nucleoplasm DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1) 22 ATGATCTTTCTTTTTTTTTTA 0.373 Base excision repair (BER), DNA glycosylases 10 115 --- --- --- --- LINC00937 0 broad.mit.edu 37 12 8519552 8519554 + RNA DEL CCA CCA - rs75567061 TCGA-XK-AAJU-01A-11D-A41K-08 TCGA-XK-AAJU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e27c976-6830-4deb-9456-5e3615bf7cb0 ccf76f57-aae5-4baf-a1cc-56a0a59c143b g.chr12:8519552_8519554delCCA ENST00000544461.1 - 0 1081 RP11-113C12.4_ENST00000537764.1_RNA TACCAGCTTCccaccaccaccac 0.473 8 39 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25525716 25525716 + RNA DEL A A - TCGA-XK-AAJU-01A-11D-A41K-08 TCGA-XK-AAJU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e27c976-6830-4deb-9456-5e3615bf7cb0 ccf76f57-aae5-4baf-a1cc-56a0a59c143b g.chr13:25525716delA ENST00000429698.1 - 0 282 TGGAAGAAACAAAAAAAAGAA 0.383 5 1 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-XK-AAJU-01A-11D-A41K-08 TCGA-XK-AAJU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e27c976-6830-4deb-9456-5e3615bf7cb0 ccf76f57-aae5-4baf-a1cc-56a0a59c143b g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gcg>g p.EA38del MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.E38delE(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCGCCGCCGcctcctcctcctc 0.773 2 4 --- --- --- --- KRT10 3858 broad.mit.edu 37 17 38978766 38978768 + In_Frame_Del DEL TCC TCC - TCGA-XK-AAJU-01A-11D-A41K-08 TCGA-XK-AAJU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e27c976-6830-4deb-9456-5e3615bf7cb0 ccf76f57-aae5-4baf-a1cc-56a0a59c143b g.chr17:38978766_38978768delTCC ENST00000269576.5 - 1 79_81 c.70_72delGGA c.(70-72)del p.G24del TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 24 Gly-rich.|Head. Missing (in Ref. 1; AAA60544). epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) ctcctccacatcctcctcctcct 0.547 7 25 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085835 11085837 + RNA DEL CAT CAT - rs151194290 by1000genomes TCGA-XK-AAJU-01A-11D-A41K-08 TCGA-XK-AAJU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e27c976-6830-4deb-9456-5e3615bf7cb0 ccf76f57-aae5-4baf-a1cc-56a0a59c143b g.chr21:11085835_11085837delCAT ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccaccatcaccatcaccaccacc 0.586 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085940 11085942 + RNA DEL CAC CAC - TCGA-XK-AAJU-01A-11D-A41K-08 TCGA-XK-AAJU-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e27c976-6830-4deb-9456-5e3615bf7cb0 ccf76f57-aae5-4baf-a1cc-56a0a59c143b g.chr21:11085940_11085942delCAC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccaccaccatcaccaccaccacc 0.532 2 4 --- --- --- ---