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 MRPL23 6150 broad.mit.edu 37 11 1977593 1977593 + Silent SNP G G A TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr11:1977593G>A ENST00000397298.3 + 5 490 c.405G>A c.(403-405)caG>caA p.Q135Q MRPL23_ENST00000397294.3_Intron|MRPL23_ENST00000397297.3_Intron|MRPL23_ENST00000381519.1_Silent_p.Q135Q|MRPL23_ENST00000381514.3_Intron NM_021134.3 NP_066957.3 Q16540 RM23_HUMAN mitochondrial ribosomal protein L23 135 translation mitochondrial large ribosomal subunit nucleotide binding|RNA binding|structural constituent of ribosome large_intestine(2)|lung(1)|ovary(1) 4 all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842) AGGAGAGGCAGCAGAGGCAGA 0.682000 4 81 0 0 1 0 0 MED31 51003 broad.mit.edu 37 17 6553677 6553677 + Splice_Site SNP A A G TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr17:6553677A>G ENST00000225728.3 - 2 210 c.106_splice c.e2+1 p.N35_splice MED31_ENST00000575197.1_Splice_Site_p.N35_splice|MED31_ENST00000574128.1_5'UTR NM_016060.2 NP_057144.1 Q9Y3C7 MED31_HUMAN mediator complex subunit 31 35 regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex protein binding cervix(1)|endometrium(1)|large_intestine(1) 3 ACAACTTACAATTAAGGTAAT 0.353000 6 185 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Silent_p.L113L|NBPF10_ENST00000369338.1_Silent_p.L113L NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) 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) AGGAGAAGTTACGGGAAGGGA 0.527000 3 73 0 0 1 0 0 NONO 4841 broad.mit.edu 37 X 70511735 70511735 + Silent SNP G G A TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chrX:70511735G>A ENST00000276079.8 + 4 466 c.261G>A c.(259-261)gaG>gaA p.E87E NONO_ENST00000373841.1_Silent_p.E87E|NONO_ENST00000373856.3_Silent_p.E87E|NONO_ENST00000535149.1_5'UTR NM_007363.4 NP_031389.3 Q15233 NONO_HUMAN non-POU domain containing, octamer-binding 87 DBHS.|RRM 1. DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|identical protein binding|nucleotide binding|RNA binding NONO/TFE3(2) endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 19 Renal(35;0.156) ACATCACTGAGGAAGAAATGA 0.423000 T TFE3 papillary renal cancer 10 99 0 0 1 0 0 GALT 2592 broad.mit.edu 37 9 34647938 34647938 + Missense_Mutation SNP G G A TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr9:34647938G>A ENST00000378842.3 + 5 529 c.487G>A c.(487-489)Gcc>Acc p.A163T GALT_ENST00000450095.2_Missense_Mutation_p.A54T|GALT_ENST00000556278.1_Intron NM_000155.3 NP_000146.2 P07902 GALT_HUMAN galactose-1-phosphate uridylyltransferase 163 galactose catabolic process cytosol UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1) 16 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.173) GGAGCTGGGTGCCCAGTACCC 0.587000 Galactosemia 30 44 0 0 1 0 0 MT-CO1 4512 broad.mit.edu 37 MT 6480 6480 + Missense_Mutation SNP G G A TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chrM:6480G>A ENST00000361624.2 + 1 577 c.577G>A c.(577-579)Gtc>Atc p.193_193insI mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 TAATCACAGCAGTCCTACTTC 0.498000 4 22 0 0 1 0 0 NAV1 89796 broad.mit.edu 37 1 201779154 201779154 + Silent SNP G G A TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr1:201779154G>A ENST00000367296.4 + 23 4902 c.4482G>A c.(4480-4482)gtG>gtA p.V1494V IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Silent_p.V1100V|NAV1_ENST00000367302.1_Silent_p.V1447V|NAV1_ENST00000295624.6_Silent_p.V1491V|NAV1_ENST00000367297.4_Silent_p.V1486V|NAV1_ENST00000367300.3_Silent_p.V1434V NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 1494 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 TCAGCCACGTGAAACGAGTGT 0.517000 15 139 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 43043255 43043255 + Missense_Mutation SNP T T A TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr20:43043255T>A ENST00000316099.3 + 5 690 c.601T>A c.(601-603)Tgg>Agg p.W201R HNF4A_ENST00000457232.1_Missense_Mutation_p.W179R|HNF4A_ENST00000443598.2_Missense_Mutation_p.W201R|HNF4A_ENST00000415691.1_Missense_Mutation_p.W201R NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 201 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TCTCGTTGAGTGGGCCAAGTA 0.622000 5 32 0 0 1 0 0 MT-CO1 4512 broad.mit.edu 37 MT 6984 6984 + Missense_Mutation SNP T T C TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chrM:6984T>C ENST00000361624.2 + 1 1081 c.1081T>C c.(1081-1083)Tca>Cca p.361_361insP mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 TATTAGCAAACTCATCACTAG 0.453000 5 21 0 0 1 0 0 BCL9 607 broad.mit.edu 37 1 147084886 147084886 + Missense_Mutation SNP G G T TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr1:147084886G>T ENST00000234739.3 + 5 998 c.258G>T c.(256-258)aaG>aaT p.K86N BCL9_ENST00000473292.1_Intron NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 86 Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) TGGGGCTGAAGAATGGGGCTG 0.592000 T """IGH@, IGL@""" B-ALL 20 50 1.96292e-10 1.96292e-10 1 1 0 MPDZ 8777 broad.mit.edu 37 9 13125351 13125351 + Silent SNP T T C TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr9:13125351T>C ENST00000319217.7 - 35 4918 c.4671A>G c.(4669-4671)aaA>aaG p.K1557K MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000381022.2_Silent_p.K1557K|MPDZ_ENST00000381015.4_Silent_p.K1557K|MPDZ_ENST00000546205.1_Silent_p.K1571K|MPDZ_ENST00000447879.1_Silent_p.K1524K|MPDZ_ENST00000538841.1_Silent_p.K416K|MPDZ_ENST00000541718.1_Silent_p.K1557K|MPDZ_ENST00000536827.1_Silent_p.K1524K NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 1557 PDZ 9. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) GGATGGTAAGTTTTACTGTCA 0.443000 29 32 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 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.Q2724Q(16)|p.Q2725Q(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) agcagcagcagcaacaacagc 0.562000 5 60 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32089285 32089285 + Missense_Mutation SNP A A G TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr5:32089285A>G ENST00000438447.1 + 20 6119 c.5731A>G c.(5731-5733)Acg>Gcg p.T1911A PDZD2_ENST00000282493.3_Missense_Mutation_p.T1911A O15018 PDZD2_HUMAN PDZ domain containing 2 1911 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GGCTGGGGGGACGGACCACAG 0.582000 3 154 0 0 1 0 0 CNRIP1 25927 broad.mit.edu 37 2 68544345 68544345 + Missense_Mutation SNP C C T rs34128476 byFrequency TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr2:68544345C>T ENST00000263655.3 - 2 879 c.274G>A c.(274-276)Gaa>Aaa p.E92K CNRIP1_ENST00000409559.3_Missense_Mutation_p.E92K|CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409862.1_Missense_Mutation_p.E92K NM_015463.2 NP_056278.1 Q96F85 CNRP1_HUMAN cannabinoid receptor interacting protein 1 92 protein binding kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1) 9 GTCACACCTTCTGTGTCATAT 0.493000 38 72 0 0 1 0 0 ALDH5A1 7915 broad.mit.edu 37 6 24505158 24505158 + Missense_Mutation SNP C C T TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr6:24505158C>T ENST00000357578.3 + 4 816 c.671C>T c.(670-672)aCt>aTt p.T224I ALDH5A1_ENST00000546278.1_Missense_Mutation_p.T136I|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.T196I|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.T224I NM_001080.3 NP_001071.1 P51649 SSDH_HUMAN aldehyde dehydrogenase 5 family, member A1 224 acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process mitochondrial matrix|soluble fraction succinate-semialdehyde dehydrogenase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1) 20 Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139) GCCGGCTGTACTGTCGTGGTG 0.592000 79 102 0 0 1 0 0 ZBTB49 166793 broad.mit.edu 37 4 4322849 4322849 + Missense_Mutation SNP G G A TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr4:4322849G>A ENST00000337872.4 + 8 2225 c.2104G>A c.(2104-2106)Gaa>Aaa p.E702K ZBTB49_ENST00000538529.1_Missense_Mutation_p.E185K|ZBTB49_ENST00000355834.3_Missense_Mutation_p.E580K NM_145291.3 NP_660334.3 Q6ZSB9 ZBT49_HUMAN zinc finger and BTB domain containing 49 702 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 28 AGCCGGTGGCGAACCACTGCA 0.602000 3 68 0 0 1 0 0 RELT 84957 broad.mit.edu 37 11 73105583 73105583 + Missense_Mutation SNP G G A rs146155880 TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr11:73105583G>A ENST00000064780.2 + 9 1111 c.850G>A c.(850-852)Gtg>Atg p.V284M RELT_ENST00000393580.2_Missense_Mutation_p.V284M NM_152222.1 NP_689408.1 Q969Z4 TR19L_HUMAN RELT tumor necrosis factor receptor 284 cytoplasm|integral to membrane|plasma membrane binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 12 TCTCCACACCGTGCAGGGCCT 0.697000 4 146 0 0 1 0 0 ACTA1 58 broad.mit.edu 37 1 229568532 229568532 + Silent SNP G G A TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr1:229568532G>A ENST00000366684.3 - 3 327 c.225C>T c.(223-225)caC>caT p.H75H ACTA1_ENST00000366683.2_Silent_p.H75H NM_001100.3 NP_001091.1 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 75 H -> L (in NEM3).|H -> R (in NEM3). muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1) 28 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) TGATGATGCCGTGCTCGATAG 0.582000 4 200 0 0 1 0 0 SETD5 55209 broad.mit.edu 37 3 9517666 9517666 + Missense_Mutation SNP C C T TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr3:9517666C>T ENST00000402466.1 + 24 4694 c.3926C>T c.(3925-3927)gCg>gTg p.A1309V SETD5_ENST00000406341.1_Missense_Mutation_p.A1407V|SETD5_ENST00000302463.6_Missense_Mutation_p.A1309V|SETD5_ENST00000407969.1_Missense_Mutation_p.A1426V|SETD5_ENST00000402198.1_Missense_Mutation_p.A1407V Q9C0A6 SETD5_HUMAN SET domain containing 5 1407 Ser-rich. NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) AGGGTATCTGCGGTTTCCAAT 0.567000 15 40 0 0 1 0 0 MSI1 4440 broad.mit.edu 37 12 120794808 120794808 + Missense_Mutation SNP T T G TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr12:120794808T>G ENST00000257552.2 - 9 637 c.549A>C c.(547-549)aaA>aaC p.K183N MSI1_ENST00000546622.1_5'UTR NM_002442.3 NP_002433.1 O43347 MSI1H_HUMAN musashi RNA-binding protein 1 183 RRM 2. nervous system development cytoplasm|nucleus nucleotide binding breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTGGCTGAGCTTTCTTACATT 0.542000 OREG0022190 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 55 0 0 1 0 0 TTC38 55020 broad.mit.edu 37 22 46669963 46669963 + Missense_Mutation SNP A A G TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr22:46669963A>G ENST00000381031.3 + 4 438 c.362A>G c.(361-363)aAt>aGt p.N121S TTC38_ENST00000445282.2_Missense_Mutation_p.N121S NM_017931.2 NP_060401.2 Q5R3I4 TTC38_HUMAN tetratricopeptide repeat domain 38 121 binding endometrium(4)|large_intestine(3)|lung(4)|ovary(1) 12 ACATTTGCCAATGGGTGAGGG 0.632000 4 38 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887612 12887612 + Missense_Mutation SNP T T C rs60558629 TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr1:12887612T>C ENST00000535591.1 - 3 440 c.245A>G c.(244-246)cAt>cGt p.H82R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 82 p.H82R(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAAGCACCCATGGGCCATAGC 0.488000 4 338 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137721851 137721851 + Silent SNP C C T rs138396959 TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr9:137721851C>T ENST00000371817.3 + 64 5511 c.5097C>T c.(5095-5097)aaC>aaT p.N1699N NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1699 Fibrillar collagen NC1. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCAAAGAAAACCCGGGCTCCT 0.537000 5 21 0 0 1 0 0 NIN 51199 broad.mit.edu 37 14 51192784 51192784 + Splice_Site SNP C C T TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr14:51192784C>T ENST00000245441.5 - 30 6269 c.6078_splice c.e30-1 p.G2027_splice NIN_ENST00000530997.2_Splice_Site_p.G2027_splice|NIN_ENST00000389868.3_3'UTR|NIN_ENST00000382043.4_Splice_Site_p.G1314_splice|NIN_ENST00000382041.3_Splice_Site_p.G2027_splice|NIN_ENST00000324330.9_3'UTR NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 2027 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) TCCTGGTTTCCCTGAAGGGAA 0.378000 T PDGFRB MPD 19 36 0 0 1 0 0 ATP6V0B 533 broad.mit.edu 37 1 44442971 44442971 + Missense_Mutation SNP C C T TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr1:44442971C>T ENST00000532642.1 + 7 771 c.674C>T c.(673-675)cCt>cTt p.P225L ATP6V0B_ENST00000498664.1_Intron|ATP6V0B_ENST00000236067.4_Intron|ATP6V0B_ENST00000472174.2_Intron|ATP6V0B_ENST00000471859.2_Intron Q99437 VATO_HUMAN ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b 116 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane hydrogen ion transmembrane transporter activity breast(2)|kidney(1)|large_intestine(3)|lung(3) 9 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) AAGTGCTCTCCTTCTCTACCT 0.478000 5 9 0 0 1 0 0 MAGED2 10916 broad.mit.edu 37 X 54841926 54841926 + Silent SNP T T C TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chrX:54841926T>C ENST00000375068.1 + 12 1865 c.1632T>C c.(1630-1632)agT>agC p.S544S MAGED2_ENST00000396224.1_Silent_p.S544S|MAGED2_ENST00000347546.3_Silent_p.S488S|MAGED2_ENST00000218439.4_Silent_p.S544S|MAGED2_ENST00000375053.2_Silent_p.S544S|MAGED2_ENST00000375058.1_Silent_p.S544S|MAGED2_ENST00000375060.1_Silent_p.S459S|MAGED2_ENST00000375062.4_Silent_p.S459S|MAGED2_ENST00000343474.6_Silent_p.S526S Q9UNF1 MAGD2_HUMAN melanoma antigen family D, 2 544 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 CCCAAGAGAGTGGcagtgcca 0.617000 4 11 0 0 1 0 0 MT-ND6 4541 broad.mit.edu 37 MT 14414 14414 + Missense_Mutation SNP T T C TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chrM:14414T>C ENST00000361681.2 - 1 259 c.260A>G c.(259-261)gAg>gGg p.E87G mitochondrially encoded NADH dehydrogenase 6 breast(1)|endometrium(10)|kidney(17)|urinary_tract(1) 29 TCACCAAGACCTCAACCCCTG 0.448000 5 30 0 0 1 0 0 PRMT3 10196 broad.mit.edu 37 11 20409654 20409654 + Missense_Mutation SNP G G A TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr11:20409654G>A ENST00000331079.6 + 2 335 c.118G>A c.(118-120)Gat>Aat p.D40N PRMT3_ENST00000437750.2_Intron NM_001145167.1|NM_005788.3 NP_001138639.1|NP_005779.1 O60678 ANM3_HUMAN protein arginine methyltransferase 3 40 zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1) 17 GGACGATGCAGATCTCCCCCA 0.677000 3 94 0 0 1 0 0 TTL 150465 broad.mit.edu 37 2 113251935 113251935 + Missense_Mutation SNP C C T TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr2:113251935C>T ENST00000233336.5 + 3 643 c.452C>T c.(451-453)tCa>tTa p.S151L NM_153712.4 NP_714923.1 Q8NG68 TTL_HUMAN tubulin tyrosine ligase 151 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity breast(1)|large_intestine(2)|ovary(1) 4 Ovarian(717;0.024) BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644) ATTGCAAAGTCATCAGCCGGT 0.428000 T ETV6 ALL 16 35 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37356590 37356590 + Missense_Mutation SNP G G A TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr1:37356590G>A ENST00000373091.3 - 2 239 c.223C>T c.(223-225)Ccc>Tcc p.P75S GRIK3_ENST00000373093.4_Missense_Mutation_p.P75S NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 75 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GTTGTGTTGGGCAGCAGAGTC 0.527000 5 215 0 0 1 0 0 LMLN 89782 broad.mit.edu 37 3 197746190 197746190 + Silent SNP G G A TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr3:197746190G>A ENST00000330198.4 + 12 1321 c.1299G>A c.(1297-1299)caG>caA p.Q433Q LMLN_ENST00000482695.1_Silent_p.Q418Q|LMLN_ENST00000420910.2_Silent_p.Q470Q|LMLN_ENST00000332636.5_Silent_p.Q381Q NM_033029.3 NP_149018.2 Q96KR4 LMLN_HUMAN leishmanolysin-like (metallopeptidase M8 family) 433 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) CTTGCAGACAGGACCAGAGAG 0.488000 3 105 0 0 1 0 0 SLC1A6 6511 broad.mit.edu 37 19 15063783 15063783 + Missense_Mutation SNP G G A TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr19:15063783G>A ENST00000430939.2 - 8 1393 c.1264C>T c.(1264-1266)Ccc>Tcc p.P422S SLC1A6_ENST00000600144.1_Missense_Mutation_p.P408S|SLC1A6_ENST00000221742.3_Missense_Mutation_p.P486S P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 486 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) TCTTCCGTGGGCAAGCCGACC 0.612000 4 213 0 0 1 0 0 BSPRY 54836 broad.mit.edu 37 9 116116526 116116526 + Missense_Mutation SNP A A G TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr9:116116526A>G ENST00000374183.4 + 2 247 c.208A>G c.(208-210)Att>Gtt p.I70V BSPRY_ENST00000462085.1_3'UTR NM_017688.2 NP_060158.2 Q5W0U4 BSPRY_HUMAN B-box and SPRY domain containing 70 calcium ion transport cytoplasm|membrane zinc ion binding breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 GCAGAACAAGATTGTGGACCA 0.507000 30 35 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 25 59 0 0 1 0 0 TNKS 8658 broad.mit.edu 37 8 9609296 9609296 + Missense_Mutation SNP G G A TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr8:9609296G>A ENST00000310430.6 + 19 3036 c.3010G>A c.(3010-3012)Gta>Ata p.V1004I TNKS_ENST00000518281.1_Missense_Mutation_p.V767I NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 1004 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) AGAGTTGGCCGTAGGAGGAGC 0.542000 4 172 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62839353 62839353 + Missense_Mutation SNP A A C TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr20:62839353A>C ENST00000536311.1 + 7 1168 c.804A>C c.(802-804)gaA>gaC p.E268D MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Missense_Mutation_p.E268D Q01538 MYT1_HUMAN myelin transcription factor 1 268 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E268E(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) aggaggaggaagaggaggagg 0.572000 3 9 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98816982 98816982 + Missense_Mutation SNP T T C TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr10:98816982T>C ENST00000266058.4 - 12 1387 c.1142A>G c.(1141-1143)tAc>tGc p.Y381C ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.Y381C NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 381 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CTGTAGGGTGTATAGGCCTCC 0.572000 3 62 0 0 1 0 0 MKLN1 4289 broad.mit.edu 37 7 131073683 131073683 + Nonsense_Mutation SNP A A T TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr7:131073683A>T ENST00000352689.6 + 4 392 c.352A>T c.(352-354)Aag>Tag p.K118* MKLN1_ENST00000421797.2_Nonsense_Mutation_p.K26*|MKLN1_ENST00000429546.1_Nonsense_Mutation_p.K26* NM_013255.4 NP_037387.2 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing kelch motifs 118 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 Melanoma(18;0.162) ATTCACCTTGAAGCATAAAAT 0.299000 9 20 0 0 1 0 0 CALCR 799 broad.mit.edu 37 7 93055811 93055811 + Missense_Mutation SNP C C T TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr7:93055811C>T ENST00000359558.2 - 16 1683 c.1384G>A c.(1384-1386)Gct>Act p.A462T CALCR_ENST00000360249.4_Missense_Mutation_p.A444T|CALCR_ENST00000426151.1_Missense_Mutation_p.A428T|CALCR_ENST00000421592.1_Missense_Mutation_p.A444T|CALCR_ENST00000394441.1_Missense_Mutation_p.A428T NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 444 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) GCGGCTGCAGCGCGAGCAGAG 0.592000 46 88 0 0 1 0 0 SDCCAG8 10806 broad.mit.edu 37 1 243471455 243471476 + Frame_Shift_Del DEL TGCAGACCATCGAAAGACTGGT TGCAGACCATCGAAAGACTGGT - rs149359674 byFrequency TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr1:243471455_243471476delTGCAGACCATCGAAAGACTGGT ENST00000366541.3 + 8 1023_1044 c.905_926delTGCAGACCATCGAAAGACTGGT c.(904-927)atfs p.MQTIERLV302fs SDCCAG8_ENST00000355875.4_Frame_Shift_Del_p.MQTIERLV259fs|SDCCAG8_ENST00000343783.6_Frame_Shift_Del_p.MQTIERLV157fs|SDCCAG8_ENST00000391846.1_Frame_Shift_Del_p.MQTIERLV302fs NM_006642.3 NP_006633.1 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 302 Sufficient for homodimerization (By similarity). establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding p.R307R(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) AATGTTCATATGCAGACCATCGAAAGACTGGTTAAGTAAGTA 0.423 22 197 --- --- --- --- KCNQ5 56479 broad.mit.edu 37 6 73331984 73331986 + In_Frame_Del DEL GCG GCG - TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr6:73331984_73331986delGCG ENST00000342056.2 + 1 465_467 c.67_69delGCG c.(67-69)del p.A27del KCNQ5_ENST00000414165.2_In_Frame_Del_p.A27del|KCNQ5_ENST00000403813.2_In_Frame_Del_p.A27del|KCNQ5_ENST00000402622.2_In_Frame_Del_p.A27del|KCNQ5_ENST00000370392.1_In_Frame_Del_p.A27del|KCNQ5_ENST00000370398.1_In_Frame_Del_p.A27del|KCNQ5_ENST00000355635.3_In_Frame_Del_p.A27del|KCNQ5_ENST00000355194.4_In_Frame_Del_p.A27del NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 27 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) GAgcggcgcagcggcggcggcgg 0.783 2 4 --- --- --- --- LMTK2 22853 broad.mit.edu 37 7 97736519 97736521 + In_Frame_Del DEL GCT GCT - TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr7:97736519_97736521delGCT ENST00000297293.5 + 1 323_325 c.30_32delGCT c.(28-33)agg>ag p.RL10del NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 10 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) TGCGGCGGAGGCTGCTGCTGCTG 0.764 2 4 --- --- --- --- PTCD1 26024 broad.mit.edu 37 7 99032605 99032607 + In_Frame_Del DEL CTC CTC - TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr7:99032605_99032607delCTC ENST00000292478.4 - 2 509_511 c.259_261delGAG c.(259-261)del p.E87del PTCD1_ENST00000485746.1_5'UTR|PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del|ATP5J2-PTCD1_ENST00000413834.1_In_Frame_Del_p.E136del NM_015545.3 NP_056360.2 pentatricopeptide repeat domain 1 p.E87K(1) endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1) 27 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) TCCCAAAACTCTCCTCCTCCTCC 0.606 7 185 --- --- --- --- JMJD1C 221037 broad.mit.edu 37 10 64967938 64967938 + Frame_Shift_Del DEL G G - TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr10:64967938delG ENST00000399262.2 - 10 3709 c.3491delC c.(3490-3492)cafs p.P1164fs JMJD1C_ENST00000399251.1_Frame_Shift_Del_p.P945fs|JMJD1C_ENST00000402544.1_Frame_Shift_Del_p.P945fs|JMJD1C_ENST00000542921.1_Frame_Shift_Del_p.P982fs NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1164 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) AAGATGTTCTGGTATCTTGCC 0.388 92 183 --- --- --- --- MXI1 4601 broad.mit.edu 37 10 111986020 111986020 + Frame_Shift_Del DEL T T - TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr10:111986020delT ENST00000239007.7 + 1 270 c.52delT c.(52-54)ttfs p.F18fs MXI1_ENST00000332674.5_Intron|MXI1_ENST00000361248.4_Intron|MXI1_ENST00000393134.1_Frame_Shift_Del_p.F18fs NM_005962.4 NP_005953.4 P50539 MXI1_HUMAN MAX interactor 1, dimerization protein 18 cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription corepressor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1) 10 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127) GGCTGCCGAGTTTTTGGAGCG 0.677 2 4 --- --- --- --- RP11-358H18.3 0 broad.mit.edu 37 11 17717451 17717452 + RNA INS - - GGGCCG rs77540938 TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr11:17717451_17717452insGGGCCG ENST00000524479.1 + 0 314 RP11-358H18.2_ENST00000529781.1_RNA gagaggggccagggccggggcc 0.797 3 3 --- --- --- --- RP11-64D24.4 0 broad.mit.edu 37 11 114239196 114239197 + RNA INS - - C rs71301679 by1000genomes TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr11:114239196_114239197insC ENST00000534904.2 - 0 304 acatggtgagaccccccccgcc 0.579 2 4 --- --- --- --- TRADD 8717 broad.mit.edu 37 16 67189037 67189039 + In_Frame_Del DEL GGC GGC - TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr16:67189037_67189039delGGC ENST00000345057.4 - 4 1056_1058 c.588_590delGCC c.(586-591)cca>cc p.PP196del TRADD_ENST00000486556.1_In_Frame_Del_p.PP136del NM_003789.3 NP_003780.1 Q15628 TRADD_HUMAN TNFRSF1A-associated via death domain 196 Death.|Poly-Pro. activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway cytoskeleton|cytosol|receptor complex binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1) 11 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) CTGGGCAGGTGGCGGCGGCGGCG 0.724 3 5 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7788146 7788148 + In_Frame_Del DEL GAG GAG - TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr17:7788146_7788148delGAG ENST00000380358.4 + 1 23_25 c.22_24delGAG c.(22-24)del p.E14del LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000570555.1_Intron NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 429 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) TCTGAGggacgaggaggaggagg 0.700 3 3 --- --- --- --- REXO1 57455 broad.mit.edu 37 19 1827021 1827023 + In_Frame_Del DEL GGA GGA - TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr19:1827021_1827023delGGA ENST00000170168.4 - 2 1859_1861 c.1765_1767delTCC c.(1765-1767)del p.S589del NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 589 Ser-rich. nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGCTggaggtggaggaggaggag 0.700 3 5 --- --- --- --- SBSN 374897 broad.mit.edu 37 19 36019046 36019047 + Frame_Shift_Del DEL CT CT - TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr19:36019046_36019047delCT ENST00000452271.2 - 1 165_166 c.137_138delAG c.(136-138)gfs p.E46fs SBSN_ENST00000518157.1_Frame_Shift_Del_p.E46fs NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 46 extracellular region p.E46fs*27(1) large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CCTTGCCCACCTCTCTCTCTGC 0.579 7 294 --- --- --- --- PTTG1IP 754 broad.mit.edu 37 21 46276194 46276196 + In_Frame_Del DEL GCA GCA - TCGA-EL-A3GU-01A-11D-A21A-08 TCGA-EL-A3GU-11A-21D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8595cf5-599e-46e5-b5ba-33521664356a 494c10c7-1916-4269-884e-186ef3bfdc19 g.chr21:46276194_46276196delGCA ENST00000330938.3 - 4 581_583 c.361_363delTGC c.(361-363)del p.C121del PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del NM_004339.3 NP_004330.1 P53801 PTTG_HUMAN pituitary tumor-transforming 1 interacting protein 121 Poly-Cys. protein import into nucleus cytoplasm|integral to membrane|nucleus ovary(1)|prostate(1) 2 Colorectal(79;0.0659) TCTTCCTCCTGCAGCAGCAGCAG 0.616 9 125 --- --- --- ---