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 C6orf136 221545 broad.mit.edu 37 6 30618837 30618837 + Nonsense_Mutation SNP G G T TCGA-DB-A64U-01A-11D-A29Q-08 TCGA-DB-A64U-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c389c4d-e9d7-4471-922e-ae545d0d9b65 4e28b253-e110-458f-b4f3-aa7de270d04a g.chr6:30618837G>T ENST00000293604.6 + 3 1277 c.1084G>T c.(1084-1086)Gag>Tag p.E362* C6orf136_ENST00000376471.4_Nonsense_Mutation_p.E47*|C6orf136_ENST00000376473.5_Nonsense_Mutation_p.E181*|C6orf136_ENST00000528347.2_Nonsense_Mutation_p.E38* NM_001161376.1 NP_001154848.1 Q5SQH8 CF136_HUMAN chromosome 6 open reading frame 136 181 endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 ATTCATCAATGAGATCCTCAA 0.488000 4 93 1 1 1 1 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-DB-A64U-01A-11D-A29Q-08 TCGA-DB-A64U-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c389c4d-e9d7-4471-922e-ae545d0d9b65 4e28b253-e110-458f-b4f3-aa7de270d04a g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 5 62 0 0 1 0 0 SEC14L1 6397 broad.mit.edu 37 17 75190803 75190803 + Silent SNP A A G TCGA-DB-A64U-01A-11D-A29Q-08 TCGA-DB-A64U-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c389c4d-e9d7-4471-922e-ae545d0d9b65 4e28b253-e110-458f-b4f3-aa7de270d04a g.chr17:75190803A>G ENST00000413679.2 + 7 822 c.519A>G c.(517-519)gaA>gaG p.E173E SEC14L1_ENST00000443798.4_Silent_p.E173E|SEC14L1_ENST00000591437.1_Silent_p.E139E|SEC14L1_ENST00000430767.4_Silent_p.E173E|SEC14L1_ENST00000436233.4_Silent_p.E173E|SEC14L1_ENST00000585618.1_Silent_p.E173E|SEC14L1_ENST00000392476.2_Silent_p.E173E|SEC14L1_ENST00000431431.2_Silent_p.E139E NM_001143998.1|NM_001143999.1|NM_003003.3 NP_001137470.1|NP_001137471.1|NP_002994.3 Q92503 S14L1_HUMAN SEC14-like 1 (S. cerevisiae) 173 PRELI/MSF1. transport Golgi apparatus|integral to membrane binding NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2) 31 TAGAAGAAGAAGGCATAACCT 0.423000 15 105 0 0 1 0 0 CTPS2 56474 broad.mit.edu 37 X 16608918 16608918 + Nonstop_Mutation SNP A A T TCGA-DB-A64U-01A-11D-A29Q-08 TCGA-DB-A64U-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c389c4d-e9d7-4471-922e-ae545d0d9b65 4e28b253-e110-458f-b4f3-aa7de270d04a g.chrX:16608918A>T ENST00000443824.1 - 18 2502 c.1759T>A c.(1759-1761)Tga>Aga p.*587R CTPS2_ENST00000380241.3_Nonstop_Mutation_p.*587R|CTPS2_ENST00000359276.4_Nonstop_Mutation_p.*587R|CTPS2_ENST00000483053.1_5'UTR NM_001144002.1 NP_001137474.1 Q9NRF8 PYRG2_HUMAN CTP synthase 2 0 glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process cytosol ATP binding|CTP synthase activity breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Hepatocellular(33;0.0997) TATTCATTTCAGCTTATTTCC 0.413000 15 36 0 0 1 0 0 EHMT2 10919 broad.mit.edu 37 6 31848860 31848860 + Silent SNP C C T TCGA-DB-A64U-01A-11D-A29Q-08 TCGA-DB-A64U-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c389c4d-e9d7-4471-922e-ae545d0d9b65 4e28b253-e110-458f-b4f3-aa7de270d04a g.chr6:31848860C>T ENST00000395728.3 - 25 3377 c.3378G>A c.(3376-3378)ggG>ggA p.G1126G EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Silent_p.G1035G|EHMT2_ENST00000375528.4_Silent_p.G1092G|EHMT2_ENST00000375537.4_Silent_p.G1069G Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 1069 SET. DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 AGATCAGCTCCCCGACATACC 0.532000 21 60 0 0 1 0 0 EMILIN1 11117 broad.mit.edu 37 2 27305238 27305238 + Missense_Mutation SNP G G A TCGA-DB-A64U-01A-11D-A29Q-08 TCGA-DB-A64U-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c389c4d-e9d7-4471-922e-ae545d0d9b65 4e28b253-e110-458f-b4f3-aa7de270d04a g.chr2:27305238G>A ENST00000380320.4 + 4 1298 c.799G>A c.(799-801)Ggc>Agc p.G267S NM_007046.3 NP_008977.1 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 267 cell adhesion collagen breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCATCATGGCGGCAGCAGCAG 0.672000 18 42 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A A G rs35873108 byFrequency TCGA-DB-A64U-01A-11D-A29Q-08 TCGA-DB-A64U-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c389c4d-e9d7-4471-922e-ae545d0d9b65 4e28b253-e110-458f-b4f3-aa7de270d04a g.chr12:132547138A>G ENST00000333577.4 + 48 8443 c.8334A>G c.(8332-8334)caA>caG p.Q2778Q EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q Q96L91 EP400_HUMAN E1A binding protein p400 2778 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2741Q(3)|p.Q2742Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcaacagcagcagc 0.602000 4 109 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DB-A64U-01A-11D-A29Q-08 TCGA-DB-A64U-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c389c4d-e9d7-4471-922e-ae545d0d9b65 4e28b253-e110-458f-b4f3-aa7de270d04a g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 8 38 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33628229 33628229 + Missense_Mutation SNP A A G TCGA-DB-A64U-01A-11D-A29Q-08 TCGA-DB-A64U-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c389c4d-e9d7-4471-922e-ae545d0d9b65 4e28b253-e110-458f-b4f3-aa7de270d04a g.chr11:33628229A>G ENST00000321505.4 + 13 4211 c.4031A>G c.(4030-4032)aAc>aGc p.N1344S KIAA1549L_ENST00000389726.3_Missense_Mutation_p.N1350S KIAA1549-like CTATTTGACAACTCCAGCAAG 0.542000 15 34 0 0 1 0 0 ZW10 9183 broad.mit.edu 37 11 113608372 113608372 + Silent SNP C C A TCGA-DB-A64U-01A-11D-A29Q-08 TCGA-DB-A64U-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c389c4d-e9d7-4471-922e-ae545d0d9b65 4e28b253-e110-458f-b4f3-aa7de270d04a g.chr11:113608372C>A ENST00000200135.3 - 14 2082 c.1938G>T c.(1936-1938)gtG>gtT p.V646V NM_004724.3 NP_004715.1 O43264 ZW10_HUMAN zw10 kinetochore protein 646 cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding p.V646V(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 18 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) AATATATATTCACTGGCAGGA 0.418000 72 33 1.49723e-40 1.7014e-40 1 1 0 SSPO 23145 broad.mit.edu 37 7 149530949 149530949 + RNA SNP C C T TCGA-DB-A64U-01A-11D-A29Q-08 TCGA-DB-A64U-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c389c4d-e9d7-4471-922e-ae545d0d9b65 4e28b253-e110-458f-b4f3-aa7de270d04a g.chr7:149530949C>T ENST00000378016.2 + 0 15478 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CACAGCTGTCCCTCTTGTGAT 0.577000 19 27 0 0 1 0 0 SNX14 57231 broad.mit.edu 37 6 86237978 86237978 + Splice_Site SNP A A G TCGA-DB-A64U-01A-11D-A29Q-08 TCGA-DB-A64U-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c389c4d-e9d7-4471-922e-ae545d0d9b65 4e28b253-e110-458f-b4f3-aa7de270d04a g.chr6:86237978A>G ENST00000314673.3 - 20 2172 c.e20+1 SNX14_ENST00000346348.3_Splice_Site|SNX14_ENST00000513865.1_Intron|SNX14_ENST00000508980.1_Splice_Site|SNX14_ENST00000505648.1_Splice_Site|SNX14_ENST00000369627.2_Splice_Site NM_153816.3 NP_722523.1 Q9Y5W7 SNX14_HUMAN sorting nexin 14 cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1) 22 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) TTGATGTTATACCTGTAGATA 0.343000 7 70 0 0 1 0 0 HSPB8 26353 broad.mit.edu 37 12 119617317 119617317 + Missense_Mutation SNP G G A TCGA-DB-A64U-01A-11D-A29Q-08 TCGA-DB-A64U-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c389c4d-e9d7-4471-922e-ae545d0d9b65 4e28b253-e110-458f-b4f3-aa7de270d04a g.chr12:119617317G>A ENST00000281938.2 + 1 871 c.200G>A c.(199-201)gGc>gAc p.G67D NM_014365.2 NP_055180.1 Q9UJY1 HSPB8_HUMAN heat shock 22kDa protein 8 67 G -> S (in a glioblastoma multiforme sample; somatic mutation). cell death|response to heat cytoplasm|nucleus identical protein binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 14 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTAAGGTCGGGCATGGTGCCC 0.692000 4 121 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20786709 20786709 + Missense_Mutation SNP A A G rs113434458 TCGA-DB-A64U-01A-11D-A29Q-08 TCGA-DB-A64U-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c389c4d-e9d7-4471-922e-ae545d0d9b65 4e28b253-e110-458f-b4f3-aa7de270d04a g.chr12:20786709A>G ENST00000359062.3 + 7 1883 c.1843A>G c.(1843-1845)Aca>Gca p.T615A PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 615 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) ACCAAGTAGAACAGGTAATTC 0.413000 12 28 0 0 1 0 0 SDHAP3 0 broad.mit.edu 37 5 1593261 1593261 + RNA SNP A A T TCGA-DB-A64U-01A-11D-A29Q-08 TCGA-DB-A64U-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c389c4d-e9d7-4471-922e-ae545d0d9b65 4e28b253-e110-458f-b4f3-aa7de270d04a g.chr5:1593261A>T ENST00000436493.2 - 0 364 CTCAGGGCACATGCCTGACCA 0.542000 4 65 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42799051 42799051 + Missense_Mutation SNP G G A TCGA-DB-A64U-01A-11D-A29Q-08 TCGA-DB-A64U-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c389c4d-e9d7-4471-922e-ae545d0d9b65 4e28b253-e110-458f-b4f3-aa7de270d04a g.chr19:42799051G>A ENST00000572681.2 + 21 7321 c.7253G>A c.(7252-7254)cGt>cAt p.R2418H CIC_ENST00000160740.3_Missense_Mutation_p.R1510H|CIC_ENST00000575354.2_Missense_Mutation_p.R1512H Q96RK0 CIC_HUMAN capicua transcriptional repressor 1512 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) TTGAAGATCCGTGAGGTGCGC 0.627000 """Mis, F, S""" oligodendroglioma 34 38 0 0 1 0 0 FSD1 79187 broad.mit.edu 37 19 4310577 4310577 + Silent SNP A A G TCGA-DB-A64U-01A-11D-A29Q-08 TCGA-DB-A64U-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c389c4d-e9d7-4471-922e-ae545d0d9b65 4e28b253-e110-458f-b4f3-aa7de270d04a g.chr19:4310577A>G ENST00000221856.6 + 6 621 c.474A>G c.(472-474)gcA>gcG p.A158A FSD1_ENST00000597590.1_Silent_p.A158A|FSD1_ENST00000598010.1_3'UTR NM_024333.2 NP_077309.1 Q9BTV5 FSD1_HUMAN fibronectin type III and SPRY domain containing 1 158 COS. cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) TGCTACAGGCACTCAAGTTCC 0.587000 37 74 0 0 1 0 0 EFCAB4B 84766 broad.mit.edu 37 12 3788091 3788091 + Missense_Mutation SNP C C T TCGA-DB-A64U-01A-11D-A29Q-08 TCGA-DB-A64U-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c389c4d-e9d7-4471-922e-ae545d0d9b65 4e28b253-e110-458f-b4f3-aa7de270d04a g.chr12:3788091C>T ENST00000440314.2 - 6 987 c.514G>A c.(514-516)Gtg>Atg p.V172M EFCAB4B_ENST00000252322.1_Missense_Mutation_p.V172M|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.V172M NM_001144958.1 NP_001138430.1 Q9BSW2 EFC4B_HUMAN EF-hand calcium binding domain 4B 172 activation of store-operated calcium channel activity|store-operated calcium entry cytoplasm calcium ion binding|protein binding breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264) TCTTCCAACACCTTTTGGGCT 0.498000 6 109 0 0 1 0 0 KRTAP4-2 85291 broad.mit.edu 37 17 39334308 39334308 + Missense_Mutation SNP G G A TCGA-DB-A64U-01A-11D-A29Q-08 TCGA-DB-A64U-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c389c4d-e9d7-4471-922e-ae545d0d9b65 4e28b253-e110-458f-b4f3-aa7de270d04a g.chr17:39334308G>A ENST00000377726.2 - 1 152 c.109C>T c.(109-111)Cgc>Tgc p.R37C NM_033062.3 NP_149051.1 Q9BYR5 KRA42_HUMAN keratin associated protein 4-2 37 20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ]. keratin filament kidney(2)|lung(4)|upper_aerodigestive_tract(1) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) CAGCTGGGGCGGCAGCAGGTG 0.657000 5 208 0 0 1 0 0 PDE6B 5158 broad.mit.edu 37 4 663881 663881 + Silent SNP C C A TCGA-DB-A64U-01A-11D-A29Q-08 TCGA-DB-A64U-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c389c4d-e9d7-4471-922e-ae545d0d9b65 4e28b253-e110-458f-b4f3-aa7de270d04a g.chr4:663881C>A ENST00000255622.6 + 22 2590 c.2547C>A c.(2545-2547)acC>acA p.T849T PDE6B_ENST00000496514.1_Silent_p.T850T|PDE6B_ENST00000429163.2_Silent_p.T571T NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 850 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 AGTCTTCAACCTGCTGTATCC 0.532000 38 112 4.92203e-23 5.35003e-23 1 1 0 FBXO11 80204 broad.mit.edu 37 2 48035296 48035297 + Frame_Shift_Del DEL AG AG - TCGA-DB-A64U-01A-11D-A29Q-08 TCGA-DB-A64U-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c389c4d-e9d7-4471-922e-ae545d0d9b65 4e28b253-e110-458f-b4f3-aa7de270d04a g.chr2:48035296_48035297delAG ENST00000403359.3 - 23 2816_2817 c.2744_2745delCT c.(2743-2745)tfs p.S915fs FBXO11_ENST00000316377.4_Frame_Shift_Del_p.S831fs|FBXO11_ENST00000434523.2_Frame_Shift_Del_p.S339fs|FBXO11_ENST00000405808.1_Intron|FBXO11_ENST00000402508.1_Frame_Shift_Del_p.S831fs NM_001190274.1 NP_001177203.1 Q86XK2 FBX11_HUMAN F-box protein 11 915 ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding p.0?(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TAGGTGGAGCAGAGTCATATAG 0.381 """Mis, F, D""" DLBCL 12 139 --- --- --- --- RP11-190P13.2 0 broad.mit.edu 37 3 114998227 114998227 + RNA DEL G G - TCGA-DB-A64U-01A-11D-A29Q-08 TCGA-DB-A64U-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c389c4d-e9d7-4471-922e-ae545d0d9b65 4e28b253-e110-458f-b4f3-aa7de270d04a g.chr3:114998227delG ENST00000459855.1 + 0 338 CAAACAGATTGGCACCTTTGC 0.478 2 4 --- --- --- --- SERAC1 84947 broad.mit.edu 37 6 158537270 158537270 + Frame_Shift_Del DEL C C - TCGA-DB-A64U-01A-11D-A29Q-08 TCGA-DB-A64U-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c389c4d-e9d7-4471-922e-ae545d0d9b65 4e28b253-e110-458f-b4f3-aa7de270d04a g.chr6:158537270delC ENST00000367102.2 - 15 1633 c.1492delG c.(1492-1494)agfs p.E498fs SERAC1_ENST00000367104.3_Frame_Shift_Del_p.R483fs|SERAC1_ENST00000367101.1_Frame_Shift_Del_p.E498fs Q96JX3 SRAC1_HUMAN serine active site containing 1 0 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 15 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) ACCAGCAGCTCTGAGCTTCCT 0.448 25 39 --- --- --- --- AE000661.37 0 broad.mit.edu 37 14 22892201 22892202 + RNA INS - - A TCGA-DB-A64U-01A-11D-A29Q-08 TCGA-DB-A64U-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c389c4d-e9d7-4471-922e-ae545d0d9b65 4e28b253-e110-458f-b4f3-aa7de270d04a g.chr14:22892201_22892202insA ENST00000514473.2 - 0 225 AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000537850.1_RNA actaaaaatacaaaaaaaaaaa 0.545 2 4 --- --- --- ---