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 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-TT-A6YO-01A-11D-A35I-08 TCGA-TT-A6YO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d78ff96-7fc0-4605-9721-5b0d9f1cb94d 5ebd3ab8-698e-4360-a13c-48761a724828 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 5 47 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-TT-A6YO-01A-11D-A35I-08 TCGA-TT-A6YO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d78ff96-7fc0-4605-9721-5b0d9f1cb94d 5ebd3ab8-698e-4360-a13c-48761a724828 g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 5 47 0.00198382 0.00212552 1 1 0 KLHL23 151230 broad.mit.edu 37 2 170591547 170591547 + Missense_Mutation SNP A A C TCGA-TT-A6YO-01A-11D-A35I-08 TCGA-TT-A6YO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d78ff96-7fc0-4605-9721-5b0d9f1cb94d 5ebd3ab8-698e-4360-a13c-48761a724828 g.chr2:170591547A>C ENST00000392647.2 + 2 267 c.23A>C c.(22-24)gAt>gCt p.D8A KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.D8A NM_144711.5 NP_653312.2 Q8NBE8 KLH23_HUMAN kelch-like family member 23 8 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1) 16 GGACAAGAAGATTATATTTAT 0.313000 3 75 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-TT-A6YO-01A-11D-A35I-08 TCGA-TT-A6YO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d78ff96-7fc0-4605-9721-5b0d9f1cb94d 5ebd3ab8-698e-4360-a13c-48761a724828 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 4 115 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-TT-A6YO-01A-11D-A35I-08 TCGA-TT-A6YO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d78ff96-7fc0-4605-9721-5b0d9f1cb94d 5ebd3ab8-698e-4360-a13c-48761a724828 g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 5 49 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-TT-A6YO-01A-11D-A35I-08 TCGA-TT-A6YO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d78ff96-7fc0-4605-9721-5b0d9f1cb94d 5ebd3ab8-698e-4360-a13c-48761a724828 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 16 0 0 1 0 0 ACE 1636 broad.mit.edu 37 17 61560491 61560491 + Missense_Mutation SNP C C T TCGA-TT-A6YO-01A-11D-A35I-08 TCGA-TT-A6YO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d78ff96-7fc0-4605-9721-5b0d9f1cb94d 5ebd3ab8-698e-4360-a13c-48761a724828 g.chr17:61560491C>T ENST00000290866.4 + 9 1468 c.1444C>T c.(1444-1446)Cgt>Tgt p.R482C ACE_ENST00000538928.1_Intron|ACE_ENST00000584529.1_Intron|ACE_ENST00000428043.1_Missense_Mutation_p.R482C NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 482 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CTTTAGTGGGCGTACCCCCCC 0.552000 5 143 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17023376 17023376 + RNA SNP C C T rs613579 by1000genomes TCGA-TT-A6YO-01A-11D-A35I-08 TCGA-TT-A6YO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d78ff96-7fc0-4605-9721-5b0d9f1cb94d 5ebd3ab8-698e-4360-a13c-48761a724828 g.chr1:17023376C>T ENST00000492551.1 - 0 1571 NR_026567.1 CCAGTAGCTCCGAGTTGTCGC 0.617000 6 24 0 0 1 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150526285 150526285 + Missense_Mutation SNP G G T TCGA-TT-A6YO-01A-11D-A35I-08 TCGA-TT-A6YO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d78ff96-7fc0-4605-9721-5b0d9f1cb94d 5ebd3ab8-698e-4360-a13c-48761a724828 g.chr1:150526285G>T ENST00000271643.4 + 6 1054 c.818G>T c.(817-819)gGc>gTc p.G273V RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.G273V|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.G273V|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.G273V NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 273 apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GGAGAAGGTGGCTTCTTCCGT 0.657000 3 26 1 1 1 1 0 BCRP7 100133163 broad.mit.edu 37 22 18845995 18845995 + RNA SNP T T C TCGA-TT-A6YO-01A-11D-A35I-08 TCGA-TT-A6YO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d78ff96-7fc0-4605-9721-5b0d9f1cb94d 5ebd3ab8-698e-4360-a13c-48761a724828 g.chr22:18845995T>C ENST00000412938.1 + 0 3353 CATCCCGTCCTGCGCAGGCCG 0.592000 4 26 0 0 1 0 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89100689 89100689 + RNA SNP C C T rs80169119 TCGA-TT-A6YO-01A-11D-A35I-08 TCGA-TT-A6YO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d78ff96-7fc0-4605-9721-5b0d9f1cb94d 5ebd3ab8-698e-4360-a13c-48761a724828 g.chr2:89100689C>T ENST00000393525.3 + 0 1163 AGATGTGATGCTAGAGTACAA 0.358000 4 87 0 0 1 0 0 GABRB2 2561 broad.mit.edu 37 5 160763709 160763709 + Silent SNP C C T rs138163747 byFrequency TCGA-TT-A6YO-01A-11D-A35I-08 TCGA-TT-A6YO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d78ff96-7fc0-4605-9721-5b0d9f1cb94d 5ebd3ab8-698e-4360-a13c-48761a724828 g.chr5:160763709C>T ENST00000274547.2 - 7 826 c.609G>A c.(607-609)acG>acA p.T203T GABRB2_ENST00000520240.1_Silent_p.T203T|GABRB2_ENST00000353437.6_Silent_p.T203T|GABRB2_ENST00000393959.1_Silent_p.T203T|GABRB2_ENST00000517901.1_Silent_p.T140T|GABRB2_ENST00000517547.1_Silent_p.T43T NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 203 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GTTCAATTTTCGTTACTCCTG 0.378000 3 59 0 0 1 0 0 RP11-739N20.2 0 broad.mit.edu 37 1 204363980 204363980 + RNA DEL A A - TCGA-TT-A6YO-01A-11D-A35I-08 TCGA-TT-A6YO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d78ff96-7fc0-4605-9721-5b0d9f1cb94d 5ebd3ab8-698e-4360-a13c-48761a724828 g.chr1:204363980delA ENST00000443515.1 + 0 146 tttgtttttcaaaaaaaaaaa 0.308 4 2 --- --- --- --- KCNV2 169522 broad.mit.edu 37 9 2718201 2718201 + Frame_Shift_Del DEL C C - TCGA-TT-A6YO-01A-11D-A35I-08 TCGA-TT-A6YO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d78ff96-7fc0-4605-9721-5b0d9f1cb94d 5ebd3ab8-698e-4360-a13c-48761a724828 g.chr9:2718201delC ENST00000382082.3 + 1 700 c.462delC c.(460-462)gafs p.D154fs NM_133497.3 NP_598004.1 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 154 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 35 GBM - Glioblastoma multiforme(50;0.0257) TCGACCGCGACCCGGCCGTCT 0.652 2 4 --- --- --- --- RTN4RL2 349667 broad.mit.edu 37 11 57243790 57243790 + Frame_Shift_Del DEL C C - TCGA-TT-A6YO-01A-11D-A35I-08 TCGA-TT-A6YO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d78ff96-7fc0-4605-9721-5b0d9f1cb94d 5ebd3ab8-698e-4360-a13c-48761a724828 g.chr11:57243790delC ENST00000335099.3 + 3 986 c.669delC c.(667-669)ttfs p.F223fs NM_178570.1 NP_848665.1 Q86UN3 R4RL2_HUMAN reticulon 4 receptor-like 2 223 axon regeneration anchored to plasma membrane receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(2) 6 GCGCGGCCTTCCGCGGCCTCA 0.716 2 4 --- --- --- --- PPP1R16B 26051 broad.mit.edu 37 20 37464689 37464689 + Frame_Shift_Del DEL G G - TCGA-TT-A6YO-01A-11D-A35I-08 TCGA-TT-A6YO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d78ff96-7fc0-4605-9721-5b0d9f1cb94d 5ebd3ab8-698e-4360-a13c-48761a724828 g.chr20:37464689delG ENST00000299824.1 + 2 310 c.121delG c.(121-123)agfs p.E41fs PPP1R16B_ENST00000373331.2_Frame_Shift_Del_p.E41fs NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 41 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) GGCACAGTACGAGCAGGACTT 0.672 2 4 --- --- --- --- MECP2 4204 broad.mit.edu 37 X 153363122 153363122 + Translation_Start_Site DEL T T - TCGA-TT-A6YO-01A-11D-A35I-08 TCGA-TT-A6YO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d78ff96-7fc0-4605-9721-5b0d9f1cb94d 5ebd3ab8-698e-4360-a13c-48761a724828 g.chrX:153363122delT ENST00000303391.6 - 0 90 MECP2_ENST00000453960.2_Start_Codon_Del|MECP2_ENST00000407218.1_De_novo_Start_OutOfFrame NM_004992.3 NP_004983.1 P51608 MECP2_HUMAN methyl CpG binding protein 2 (Rett syndrome) negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1) 23 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) gcggcggcCATTTTCCGGACG 0.766 2 4 --- --- --- ---