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 HNRNPA0 10949 broad.mit.edu 37 5 137089260 137089260 + Missense_Mutation SNP G G A TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr5:137089260G>A ENST00000314940.4 - 1 779 c.496C>T c.(496-498)Cat>Tat p.H166Y NM_006805.3 NP_006796.1 Q13151 ROA0_HUMAN heterogeneous nuclear ribonucleoprotein A0 166 RRM 2. nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|RNA binding large_intestine(1)|lung(2)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCCACGCGATGGCCCTGAATC 0.642000 8 10 0 0 1 0 0 PRDM10 56980 broad.mit.edu 37 11 129814836 129814836 + Missense_Mutation SNP G G A TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr11:129814836G>A ENST00000358825.5 - 6 823 c.592C>T c.(592-594)Cgg>Tgg p.R198W PRDM10_ENST00000360871.3_Missense_Mutation_p.R198W|PRDM10_ENST00000528746.1_Missense_Mutation_p.R172W|PRDM10_ENST00000423662.2_Missense_Mutation_p.R112W|PRDM10_ENST00000526082.1_Missense_Mutation_p.R112W|PRDM10_ENST00000304538.6_Missense_Mutation_p.R112W NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 198 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) AGCACCGGCCGGTTGGGGATC 0.617000 4 56 0 0 1 0 0 KLHL14 57565 broad.mit.edu 37 18 30275430 30275430 + Silent SNP C C T TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr18:30275430C>T ENST00000359358.4 - 4 1593 c.1155G>A c.(1153-1155)ccG>ccA p.P385P NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 385 cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 AGTTACCATTCGGATTCCACT 0.418000 3 28 0 0 1 0 0 KRTAP4-5 85289 broad.mit.edu 37 17 39305839 39305839 + Missense_Mutation SNP A A T TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr17:39305839A>T ENST00000343246.4 - 1 215 c.181T>A c.(181-183)Tgc>Agc p.C61S NM_033188.3 NP_149445.3 Q9BYR2 KRA45_HUMAN keratin associated protein 4-5 61 27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC]. keratin filament central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ctggagatgcagcagctaggg 0.667000 3 29 0 0 1 0 0 AACS 65985 broad.mit.edu 37 12 125603203 125603203 + Nonsense_Mutation SNP G G A TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr12:125603203G>A ENST00000316519.6 + 10 1219 c.1013G>A c.(1012-1014)tGg>tAg p.W338* AACS_ENST00000316543.10_5'UTR|AACS_ENST00000261686.6_Nonsense_Mutation_p.W338* NM_023928.3 NP_076417.2 Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 338 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) TGGATGATGTGGAACTGGATG 0.652000 9 12 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29779937 29779937 + Missense_Mutation SNP G G A TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr10:29779937G>A ENST00000375398.2 - 24 4480 c.4031C>T c.(4030-4032)tCc>tTc p.S1344F SVIL_ENST00000535393.1_Missense_Mutation_p.S258F|SVIL_ENST00000538146.1_Missense_Mutation_p.S136F|SVIL_ENST00000375400.3_Missense_Mutation_p.S918F|SVIL_ENST00000355867.4_Missense_Mutation_p.S1344F O95425 SVIL_HUMAN supervillin 1344 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) CTCGGCCACGGAAGACGTCAA 0.587000 4 26 0 0 1 0 0 CELF1 10658 broad.mit.edu 37 11 47498502 47498502 + Missense_Mutation SNP G G A TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr11:47498502G>A ENST00000395290.2 - 9 905 c.896C>T c.(895-897)tCa>tTa p.S299L CELF1_ENST00000532048.1_Missense_Mutation_p.S326L|CELF1_ENST00000395292.2_Missense_Mutation_p.S297L|CELF1_ENST00000310513.5_Missense_Mutation_p.S296L|CELF1_ENST00000361904.3_Missense_Mutation_p.S297L|CELF1_ENST00000531165.1_Missense_Mutation_p.S328L|CELF1_ENST00000358597.3_Missense_Mutation_p.S300L NM_001025596.2|NM_001172640.1 NP_001020767.1|NP_001166111.1 Q92879 CELF1_HUMAN CUGBP, Elav-like family member 1 300 Ser-rich. embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference cytoplasm|nucleus|ribonucleoprotein complex BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2) 18 AGAGCTAGGTGAGGACCCTGC 0.463000 26 34 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88769470 88769470 + RNA SNP C C T TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr10:88769470C>T ENST00000444431.1 + 0 4070 RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding GGGAGGGAGACGGCTGCACGG 0.672000 36 81 0 0 1 0 0 ZNF773 374928 broad.mit.edu 37 19 58018648 58018648 + Missense_Mutation SNP C C A TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr19:58018648C>A ENST00000282292.4 + 4 1325 c.1185C>A c.(1183-1185)ttC>ttA p.F395L ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.F394L|ZNF773_ENST00000593916.1_Intron NM_198542.1 NP_940944.1 Q6PK81 ZN773_HUMAN zinc finger protein 773 395 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254) GTGGGAGATTCTTTAGTGAGA 0.423000 42 31 1.8453e-21 1.89261e-21 1 1 0 SPP2 6694 broad.mit.edu 37 2 234959502 234959502 + Silent SNP C C T TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr2:234959502C>T ENST00000168148.3 + 1 160 c.72C>T c.(70-72)taC>taT p.Y24Y SPP2_ENST00000492481.1_3'UTR|SPP2_ENST00000373368.1_Silent_p.Y24Y NM_006944.2 NP_008875.1 Q13103 SPP24_HUMAN secreted phosphoprotein 2, 24kDa 24 bone remodeling|skeletal system development extracellular region endopeptidase inhibitor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182) Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846) GAATGAACTACTGGTCTTGCT 0.473000 49 88 0 0 1 0 0 FAIM 55179 broad.mit.edu 37 3 138351879 138351879 + Silent SNP T T G TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr3:138351879T>G ENST00000338446.4 + 6 1283 c.600T>G c.(598-600)acT>acG p.T200T FAIM_ENST00000393034.2_Silent_p.T166T|FAIM_ENST00000393035.2_Silent_p.T166T|FAIM_ENST00000464668.1_Silent_p.T166T|FAIM_ENST00000360570.3_Silent_p.T188T NM_001033030.1 NP_001028202.1 Q9NVQ4 FAIM1_HUMAN Fas apoptotic inhibitory molecule 166 apoptosis cytoplasm kidney(1)|upper_aerodigestive_tract(1) 2 TTATTCATACTCTCATTGTGG 0.358000 33 42 0 0 1 0 0 CYP3A43 64816 broad.mit.edu 37 7 99453218 99453218 + Silent SNP C C T TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr7:99453218C>T ENST00000354829.2 + 8 778 c.675C>T c.(673-675)ctC>ctT p.L225L CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000312017.5_Silent_p.L225L|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000222382.5_Silent_p.L225L|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000417625.1_Silent_p.L115L NM_022820.3|NM_057095.1 NP_073731.1|NP_476436.1 Q9HB55 CP343_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 43 225 Missing (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) CTATAGCACTCTTTCCATTTC 0.279000 14 20 0 0 1 0 0 MLIP 90523 broad.mit.edu 37 6 53989659 53989659 + Missense_Mutation SNP G G A TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr6:53989659G>A ENST00000514921.1 + 3 721 c.608G>A c.(607-609)gGg>gAg p.G203E MLIP_ENST00000370876.2_Missense_Mutation_p.G141E|MLIP_ENST00000502396.1_Missense_Mutation_p.G214E|MLIP_ENST00000358276.5_Missense_Mutation_p.G197E|MLIP_ENST00000370877.2_Missense_Mutation_p.G151E|MLIP_ENST00000274897.5_Missense_Mutation_p.G203E|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000509997.1_Missense_Mutation_p.G151E Q5VWP3 MLIP_HUMAN muscular LMNA-interacting protein 203 nuclear envelope|PML body protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 CAAAAGCATGGGCAGGTAGGT 0.493000 9 18 0 0 1 0 0 PLA2G3 50487 broad.mit.edu 37 22 31535869 31535869 + Missense_Mutation SNP A A G TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr22:31535869A>G ENST00000215885.3 - 1 724 c.472T>C c.(472-474)Tgg>Cgg p.W158R NM_015715.3 NP_056530.2 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III 158 Phospholipase A2-like. cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 ACTCCACACCACAGTGTGCCA 0.622000 12 18 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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 16 39 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80408515 80408515 + Missense_Mutation SNP C C T TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr5:80408515C>T ENST00000265080.4 + 14 1992 c.1925C>T c.(1924-1926)gCc>gTc p.A642V NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 642 N-terminal Ras-GEF. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) ATCCGTTATGCCAGCGTGGAG 0.483000 4 205 0 0 1 0 0 CEP120 153241 broad.mit.edu 37 5 122754074 122754074 + Missense_Mutation SNP C C T TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr5:122754074C>T ENST00000306467.5 - 2 489 c.185G>A c.(184-186)aGg>aAg p.R62K CEP120_ENST00000328236.5_Missense_Mutation_p.R62K|CEP120_ENST00000395431.2_Missense_Mutation_p.R62K|CEP120_ENST00000306481.6_Missense_Mutation_p.R36K Q8N960 CE120_HUMAN centrosomal protein 120kDa 62 centrosome breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 29 AAGCGCTTTCCTGTCAATTTC 0.383000 19 23 0 0 1 0 0 CAPN9 10753 broad.mit.edu 37 1 230903392 230903392 + Missense_Mutation SNP G G C TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr1:230903392G>C ENST00000354537.1 + 5 724 c.642G>C c.(640-642)gaG>gaC p.E214D RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Missense_Mutation_p.E214D|CAPN9_ENST00000366666.2_Missense_Mutation_p.E151D NM_016452.1 NP_057536.1 O14815 CAN9_HUMAN calpain 9 214 Calpain catalytic. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) AGGCCCCCGAGAACTTCTATG 0.537000 39 51 0 0 1 0 0 TXNDC16 57544 broad.mit.edu 37 14 52985913 52985913 + Missense_Mutation SNP T T C TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr14:52985913T>C ENST00000281741.4 - 7 862 c.491A>G c.(490-492)tAt>tGt p.Y164C TXNDC16_ENST00000554399.1_Intron NM_001160047.1|NM_020784.2 NP_001153519.1|NP_065835.2 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 164 cell redox homeostasis extracellular region breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1) 21 Breast(41;0.0716) GGCTCTTACATATGAGAATAT 0.318000 22 10 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887612 12887612 + Missense_Mutation SNP T T C rs60558629 TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 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 4 124 0 0 1 0 0 NCAM2 4685 broad.mit.edu 37 21 22710761 22710761 + Silent SNP A A G TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr21:22710761A>G ENST00000400546.1 + 8 1200 c.951A>G c.(949-951)caA>caG p.Q317Q NCAM2_ENST00000284894.7_Silent_p.Q175Q|NCAM2_ENST00000535285.1_Silent_p.Q342Q NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 317 Ig-like C2-type 4. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) AGAATGGTCAAGTCACACTCG 0.393000 14 27 0 0 1 0 0 DNAI1 27019 broad.mit.edu 37 9 34493301 34493301 + Missense_Mutation SNP G G A TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr9:34493301G>A ENST00000242317.4 + 9 962 c.791G>A c.(790-792)aGg>aAg p.R264K DNAI1_ENST00000488369.1_3'UTR NM_012144.2 NP_036276.1 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 264 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1) 34 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) ATGGCCATGAGGAAGCTGACA 0.478000 Kartagener syndrome 18 30 0 0 1 0 0 CCR2 729230 broad.mit.edu 37 3 46399083 46399083 + Missense_Mutation SNP C C G TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr3:46399083C>G ENST00000292301.4 + 2 550 c.65C>G c.(64-66)aCc>aGc p.T22S CCR2_ENST00000465202.1_Intron|CCR2_ENST00000400888.2_Missense_Mutation_p.T22S|CCR2_ENST00000445132.2_Missense_Mutation_p.T22S NM_001123041.2 NP_001116513.2 P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 22 astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) GAAGTCACCACCTTTTTTGAT 0.468000 32 52 0 0 1 0 0 PTK7 0 broad.mit.edu 37 6 43109996 43109996 + Missense_Mutation SNP G G A TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr6:43109996G>A ENST00000230419.4 + 13 2227 c.2006G>A c.(2005-2007)aGc>aAc p.S669N PTK7_ENST00000349241.2_Missense_Mutation_p.S539N|PTK7_ENST00000352931.2_Intron|PTK7_ENST00000345201.2_Missense_Mutation_p.S629N|PTK7_ENST00000481273.1_Missense_Mutation_p.S677N NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 669 Ig-like C2-type 7. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) GCAGGCAACAGCTGCAACATC 0.597000 16 22 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 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 4 11 0 0 1 0 0 ZNF543 125919 broad.mit.edu 37 19 57835059 57835059 + Missense_Mutation SNP A A G TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr19:57835059A>G ENST00000321545.4 + 2 373 c.28A>G c.(28-30)Acc>Gcc p.T10A NM_213598.3 NP_998763.2 Q08ER8 ZN543_HUMAN zinc finger protein 543 10 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GGTGTCTGTGACCTTTGAGGA 0.493000 27 11 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33650337 33650337 + Missense_Mutation SNP A A G TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr6:33650337A>G ENST00000374316.5 + 35 5573 c.4513A>G c.(4513-4515)Acc>Gcc p.T1505A ITPR3_ENST00000605930.1_Missense_Mutation_p.T1505A Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 1505 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 GCTGCAGTCTACCACACGCCT 0.662000 25 42 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887606 12887606 + Missense_Mutation SNP C C G rs58074988 TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr1:12887606C>G ENST00000535591.1 - 3 446 c.251G>C c.(250-252)tGc>tCc p.C84S NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 84 p.C84S(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ATTGAGGAAGCACCCATGGGC 0.483000 4 125 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33578596 33578596 + Missense_Mutation SNP G G A TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr20:33578596G>A ENST00000262873.7 + 21 2251 c.2159G>A c.(2158-2160)cGc>cAc p.R720H NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 678 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) CACTTCGTCCGCTGCATTGTC 0.627000 26 26 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138452455 138452455 + Missense_Mutation SNP G G C TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr4:138452455G>C ENST00000344876.4 - 1 1174 c.788C>G c.(787-789)aCt>aGt p.T263S PCDH18_ENST00000412923.2_Missense_Mutation_p.T263S|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.T43S|PCDH18_ENST00000510305.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 263 Cadherin 3. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TAAGAGCAAAGTGCCAACCGG 0.413000 31 12 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29632654 29632654 + Missense_Mutation SNP A A G TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr20:29632654A>G ENST00000278882.3 + 8 849 c.469A>G c.(469-471)Aaa>Gaa p.K157E FRG1B_ENST00000358464.4_Missense_Mutation_p.K157E endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAAATAAGTAAAGAAGAGAG 0.308000 40 642 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9075528 9075528 + Missense_Mutation SNP G G A TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr19:9075528G>A ENST00000397910.4 - 3 12121 c.11918C>T c.(11917-11919)gCg>gTg p.A3973V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3975 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTTGGATGACGCTGAGTGGGC 0.488000 8 13 0 0 1 0 0 FUBP1 8880 broad.mit.edu 37 1 78422268 78422271 + Frame_Shift_Del DEL GTTT GTTT - TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr1:78422268_78422271delGTTT ENST00000370767.1 - 17 1778_1781 c.1691_1694delAAAC c.(1690-1695)ctfs p.QT564fs FUBP1_ENST00000436586.2_Frame_Shift_Del_p.QT585fs|FUBP1_ENST00000370768.2_Frame_Shift_Del_p.QT564fs Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 564 transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 TTGTCCATTAGTTTGAGTTGTAGT 0.407 """F, N""" oligodendroglioma 15 16 --- --- --- --- RBMXL1 494115 broad.mit.edu 37 1 89448604 89448605 + Frame_Shift_Ins INS - - GG TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr1:89448604_89448605insGG ENST00000399794.2 - 3 1620_1621 c.905_906insCC c.(904-906)ctcfs p.L302fs RBMXL1_ENST00000321792.5_Frame_Shift_Ins_p.L302fs|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron NM_001162536.2 NP_001156008.1 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 302 Ser-rich. nucleotide binding|RNA binding CACCATAAGATGGCGGGGGCCC 0.475 8 95 --- --- --- --- CCDC173 129881 broad.mit.edu 37 2 170506899 170506902 + Frame_Shift_Del DEL TCTT TCTT - TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr2:170506899_170506902delTCTT ENST00000447353.1 - 7 1194_1197 c.1089_1092delAAGA c.(1087-1092)gafs p.ER363fs NM_001085447.1 NP_001078916.1 coiled-coil domain containing 173 CATCTTTTTCTCTTTCTCTTTTTT 0.309 5 11 --- --- --- --- AC073321.4 0 broad.mit.edu 37 2 217475032 217475032 + RNA DEL A A - rs71401156 TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr2:217475032delA ENST00000441803.1 + 0 195 ATTTTATTTCAAAAAAAAAAA 0.373 4 2 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42795433 42795433 + Frame_Shift_Del DEL T T - TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chr19:42795433delT ENST00000572681.2 + 11 5308 c.5240delT c.(5239-5241)ggfs p.V1747fs CIC_ENST00000160740.3_Frame_Shift_Del_p.V838fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.V838fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 838 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) CAGCTTCAGGTGGCACCTGCC 0.682 """Mis, F, S""" oligodendroglioma 9 5 --- --- --- --- AC006157.2 0 broad.mit.edu 37 Y 2765300 2765300 + RNA DEL T T - TCGA-QH-A6X4-01A-51D-A32B-08 TCGA-QH-A6X4-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx efd92c1a-5310-48e7-887f-e1336b1cff21 ee07165f-dd39-44ce-bbd3-5ebaa3afeb95 g.chrY:2765300delT ENST00000515575.1 + 0 42 AGAATCAAAATTAAATGTATT 0.323 2 4 --- --- --- ---