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 ORM1 5004 broad.mit.edu 37 9 117086322 117086322 + Silent SNP C C G TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr9:117086322C>G ENST00000259396.8 + 3 360 c.282C>G c.(280-282)acC>acG p.T94T ORM1_ENST00000477456.1_3'UTR|ORM1_ENST00000538816.1_3'UTR NM_000607.2 NP_000598.2 P02763 A1AG1_HUMAN orosomucoid 1 94 acute-phase response|regulation of immune system process|transport extracellular space protein binding endometrium(2)|large_intestine(4)|lung(2) 8 Myeloproliferative disorder(63;0.163) Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706) TCTATAACACCACCTACCTGA 0.552000 30 224 0 0 1 0 0 ZNF2 7549 broad.mit.edu 37 2 95843249 95843249 + Translation_Start_Site SNP G G A TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr2:95843249G>A ENST00000398107.2 + 0 451 ZNF2_ENST00000425369.1_De_novo_Start_OutOfFrame|ZNF2_ENST00000453539.2_Missense_Mutation_p.V19I|ZNF2_ENST00000340539.5_Missense_Mutation_p.V19I|ZNF2_ENST00000295210.6_Missense_Mutation_p.V19I NM_001017396.1 NP_001017396.1 Q9BSG1 ZNF2_HUMAN zinc finger protein 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 12 Ovarian(717;0.00768) READ - Rectum adenocarcinoma(193;0.0222) ATTCGAAGACGTTGCCGTGGT 0.443000 46 130 0 0 1 0 0 C12orf71 728858 broad.mit.edu 37 12 27234344 27234344 + Silent SNP G G A TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr12:27234344G>A ENST00000429849.2 - 2 603 c.573C>T c.(571-573)atC>atT p.I191I NM_001080406.1 NP_001073875.1 A8MTZ7 CL071_HUMAN chromosome 12 open reading frame 71 191 endometrium(2)|large_intestine(1)|lung(4)|skin(1) 8 GCTCTGACAGGATTGAGGAGA 0.537000 55 51 0 0 1 0 0 AOC1 26 broad.mit.edu 37 7 150553564 150553564 + Silent SNP G G A TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr7:150553564G>A ENST00000493429.1 + 4 590 c.6G>A c.(4-6)ccG>ccA p.P2P AOC1_ENST00000360937.4_Silent_p.P2P|AOC1_ENST00000467291.1_Silent_p.P2P|AOC1_ENST00000416793.2_Silent_p.P2P amine oxidase, copper containing 1 p.P2P(1) GAGAGATGCCGGCCCTGGGCT 0.607000 27 35 0 0 1 0 0 TIMMDC1 51300 broad.mit.edu 37 3 119217604 119217604 + Silent SNP G G T TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr3:119217604G>T ENST00000494664.1 + 1 226 c.24G>T c.(22-24)ccG>ccT p.P8P TIMMDC1_ENST00000493694.1_Silent_p.P8P NM_016589.3 NP_057673.2 Q9NPL8 TIDC1_HUMAN translocase of inner mitochondrial membrane domain containing 1 8 integral to membrane|mitochondrial inner membrane protein transporter activity autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 15 CACCGGCACCGCGGAGCTTTC 0.602000 75 100 2.14232e-31 2.53696e-31 1 1 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T rs121913254 TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr1:115256530G>T ENST00000369535.4 - 3 434 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 84 106 2.67039e-37 3.24777e-37 1 1 0 RAP1A 5906 broad.mit.edu 37 1 112240072 112240072 + Missense_Mutation SNP G G A TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr1:112240072G>A ENST00000369709.3 + 4 315 c.136G>A c.(136-138)Gtc>Atc p.V46I RAP1A_ENST00000436150.2_Missense_Mutation_p.V46I|RAP1A_ENST00000356415.1_Missense_Mutation_p.V46I|RAP1A_ENST00000545460.1_Missense_Mutation_p.V46I|RAP1A_ENST00000494982.1_3'UTR NM_002884.2 NP_002875.1 P62834 RAP1A_HUMAN RAP1A, member of RAS oncogene family 46 activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion cytosol|plasma membrane GTP binding|GTPase activity endometrium(1)|large_intestine(2)|lung(3) 6 all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021) Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141) GCAAGTTGAAGTCGATTGCCA 0.358000 30 32 0 0 1 0 0 DIS3 22894 broad.mit.edu 37 13 73345948 73345948 + Silent SNP C C T TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr13:73345948C>T ENST00000377767.4 - 11 1690 c.1590G>A c.(1588-1590)gtG>gtA p.V530V DIS3_ENST00000545453.1_Silent_p.V368V|DIS3_ENST00000377780.4_Silent_p.V500V NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 530 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) CACAAAGATACACAGTTGTTC 0.338000 Multiple Myeloma(4;0.011) 7 73 0 0 1 0 0 TIFAB 497189 broad.mit.edu 37 5 134785192 134785192 + Silent SNP G G A TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr5:134785192G>A ENST00000537858.1 - 2 638 c.438C>T c.(436-438)gaC>gaT p.D146D NM_001099221.1 NP_001092691.1 Q6ZNK6 TIFAB_HUMAN TRAF-interacting protein with forkhead-associated domain, family member B 146 breast(1)|endometrium(1)|liver(1)|lung(5) 8 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTTCCCATTCGTCAGTTTCCT 0.572000 42 63 0 0 1 0 0 TIMMDC1 51300 broad.mit.edu 37 3 119217605 119217605 + Missense_Mutation SNP C C T TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr3:119217605C>T ENST00000494664.1 + 1 227 c.25C>T c.(25-27)Cgg>Tgg p.R9W TIMMDC1_ENST00000493694.1_Missense_Mutation_p.R9W NM_016589.3 NP_057673.2 Q9NPL8 TIDC1_HUMAN translocase of inner mitochondrial membrane domain containing 1 9 integral to membrane|mitochondrial inner membrane protein transporter activity autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 15 ACCGGCACCGCGGAGCTTTCT 0.602000 76 101 0 0 1 0 0 AMZ2P1 0 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 6 96 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70333190 70333190 + Missense_Mutation SNP C C T TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr11:70333190C>T ENST00000338508.4 - 32 3210 c.3211G>A c.(3211-3213)Gaa>Aaa p.E1071K SHANK2_ENST00000449833.2_Missense_Mutation_p.E475K|SHANK2_ENST00000409161.1_Missense_Mutation_p.E474K|SHANK2_ENST00000423696.2_Missense_Mutation_p.E691K Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 691 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GTCAGGCTTTCGTCAGGCCGC 0.701000 29 47 0 0 1 0 0 CCDC129 223075 broad.mit.edu 37 7 31592727 31592727 + Missense_Mutation SNP C C T TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr7:31592727C>T ENST00000319386.3 + 2 1082 c.89C>T c.(88-90)gCg>gTg p.A30V CCDC129_ENST00000407970.3_Missense_Mutation_p.A30V|CCDC129_ENST00000482748.1_Intron|CCDC129_ENST00000451887.2_Missense_Mutation_p.A56V Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 30 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 ACCAAAAGCGCGTGGGCTCCG 0.537000 10 7 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179476842 179476842 + Nonsense_Mutation SNP G G A TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr2:179476842G>A ENST00000589042.1 - 267 50520 c.50296C>T c.(50296-50298)Cga>Tga p.R16766* TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R15125*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R7701*|TTN_ENST00000359218.5_Nonsense_Mutation_p.R7826*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R14198*|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R7893*|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15125 Ig-like 101. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCAACATGTCGTTTTGTCACA 0.403000 16 14 0 0 1 0 0 HIST1H4E 8367 broad.mit.edu 37 6 26204872 26204872 + Translation_Start_Site SNP C C A rs144621549 TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr6:26204872C>A ENST00000360441.4 + 0 15 NM_003545.3 NP_003536.1 P62805 H4_HUMAN histone cluster 1, H4e CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 18 all_hematologic(11;0.196) GTGTGTTGGTCATGTCTGGTC 0.498000 46 67 4.01344e-20 4.63089e-20 1 1 0 FBXO11 80204 broad.mit.edu 37 2 48066036 48066036 + Silent SNP A A G TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr2:48066036A>G ENST00000403359.3 - 4 621 c.549T>C c.(547-549)tgT>tgC p.C183C FBXO11_ENST00000378314.3_Silent_p.C65C|FBXO11_ENST00000316377.4_Silent_p.C99C|FBXO11_ENST00000480038.1_5'UTR|FBXO11_ENST00000402508.1_Silent_p.C99C NM_001190274.1 NP_001177203.1 Q86XK2 FBX11_HUMAN F-box protein 11 183 F-box. 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) TGAAGCGTTTACATACACAAG 0.368000 """Mis, F, D""" DLBCL 28 27 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48686858 48686858 + Missense_Mutation SNP T T C TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr8:48686858T>C ENST00000314191.2 - 87 12316 c.12260A>G c.(12259-12261)aAc>aGc p.N4087S PRKDC_ENST00000338368.3_Missense_Mutation_p.N4056S|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 4088 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GGCACGAATGTTGTGATCTTT 0.512000 Non-homologous end-joining 9 12 0 0 1 0 0 LRRC3 81543 broad.mit.edu 37 21 45876948 45876948 + Missense_Mutation SNP C C T TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr21:45876948C>T ENST00000291592.4 + 2 738 c.421C>T c.(421-423)Cgc>Tgc p.R141C NM_030891.3 NP_112153.1 Q9BY71 LRRC3_HUMAN leucine rich repeat containing 3 141 integral to membrane protein binding endometrium(2)|kidney(1)|lung(1)|urinary_tract(1) 5 Breast(209;0.00908) COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195) CGCCAAGATACGCCTGTCCCA 0.672000 13 65 0 0 1 0 0 GLUD1P2 0 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 4 26 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45688322 45688322 + Silent SNP G G A TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr7:45688322G>A ENST00000297323.7 + 5 1096 c.1074G>A c.(1072-1074)tcG>tcA p.S358S ADCY1_ENST00000432715.1_Silent_p.S133S NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 358 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) ACTGCGTGTCGGGCCTCACCC 0.577000 15 41 0 0 1 0 0 PFKFB4 5210 broad.mit.edu 37 3 48561154 48561154 + Missense_Mutation SNP T T C TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr3:48561154T>C ENST00000232375.3 - 11 1314 c.1202A>G c.(1201-1203)tAc>tGc p.Y401C PFKFB4_ENST00000383734.2_Missense_Mutation_p.Y366C|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000416568.1_Missense_Mutation_p.Y394C|PFKFB4_ENST00000541519.1_Missense_Mutation_p.Y367C|PFKFB4_ENST00000536104.1_Missense_Mutation_p.Y390C NM_004567.2 NP_004558.1 Q16877 F264_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 401 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) GTCGAGGAAGTAGGCCAGCAG 0.602000 40 39 0 0 1 0 0 FCRL2 79368 broad.mit.edu 37 1 157739926 157739926 + Missense_Mutation SNP G G A TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr1:157739926G>A ENST00000361516.3 - 4 373 c.325C>T c.(325-327)Cct>Tct p.P109S FCRL2_ENST00000392274.3_Missense_Mutation_p.P109S|FCRL2_ENST00000368181.4_Intron NM_030764.3 NP_110391.2 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 109 Ig-like C2-type 2. cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GTCAGCACAGGACGTTGAAAG 0.532000 25 23 0 0 1 0 0 PITX2 5308 broad.mit.edu 37 4 111539567 111539567 + Missense_Mutation SNP G G C TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr4:111539567G>C ENST00000354925.2 - 7 2373 c.668C>G c.(667-669)tCg>tGg p.S223W PITX2_ENST00000394598.2_Missense_Mutation_p.S223W|PITX2_ENST00000306732.3_Missense_Mutation_p.S230W|PITX2_ENST00000394595.3_Silent_p.V154V|PITX2_ENST00000355080.5_Missense_Mutation_p.S177W NM_001204397.1 NP_001191326.1 Q99697 PITX2_HUMAN paired-like homeodomain 2 223 determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding p.S230L(1)|p.S223L(1) breast(1)|endometrium(3)|large_intestine(1)|lung(5) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) CATGCTGGACGACATGCTCAT 0.547000 32 38 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38889182 38889182 + Missense_Mutation SNP G G A TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr3:38889182G>A ENST00000302328.3 - 26 4577 c.4379C>T c.(4378-4380)aCg>aTg p.T1460M SCN11A_ENST00000456224.3_Missense_Mutation_p.T1422M|SCN11A_ENST00000450244.1_Missense_Mutation_p.T1460M NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1460 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TCTGAAGAGCGTCGGAGGGAA 0.493000 17 22 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11159811 11159811 + Missense_Mutation SNP A A G TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr5:11159811A>G ENST00000304623.8 - 12 2225 c.2036T>C c.(2035-2037)cTa>cCa p.L679P CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.L588P|CTNND2_ENST00000458100.2_Missense_Mutation_p.L246P|CTNND2_ENST00000359640.2_Missense_Mutation_p.L679P|CTNND2_ENST00000503622.1_Missense_Mutation_p.L342P NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 679 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 CAGTACTGCTAGGGCATCCTG 0.502000 12 121 0 0 1 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105420865 105420865 + Missense_Mutation SNP G G T TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr10:105420865G>T ENST00000369774.4 - 8 756 c.480C>A c.(478-480)gaC>gaA p.D160E SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.D22E|SH3PXD2A_ENST00000538130.1_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.D160E|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.D27E Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 160 cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) CGGCGGTGGCGTCGGCACCTG 0.692000 83 90 1.42954e-44 1.78693e-44 1 1 0 USH2A 7399 broad.mit.edu 37 1 215914751 215914751 + Missense_Mutation SNP G G T rs41303285 byFrequency TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr1:215914751G>T ENST00000366943.2 - 60 12063 c.11677C>A c.(11677-11679)Cca>Aca p.P3893T USH2A_ENST00000307340.3_Missense_Mutation_p.P3893T O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3893 Fibronectin type-III 24. P -> T (in dbSNP:rs41303285). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATTCCATTTGGTTTTTCAGGT 0.388000 HNSCC(13;0.011) 5 86 1 1 1 1 0 KIAA0754 643314 broad.mit.edu 37 1 39878974 39878974 + Missense_Mutation SNP C C G TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr1:39878974C>G ENST00000530275.1 + 1 2824 c.2629C>G c.(2629-2631)Ccc>Gcc p.P877A MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 877 Ala-rich. central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCCAGAGGAGCCCACCTCCCC 0.687000 6 15 0 0 1 0 0 OTOP1 133060 broad.mit.edu 37 4 4228226 4228226 + Silent SNP G G A TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr4:4228226G>A ENST00000296358.4 - 1 390 c.366C>T c.(364-366)cgC>cgT p.R122R NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 122 biomineral tissue development extracellular space|integral to membrane p.R122R(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGTCCTTGAGGCGGAAGAGGC 0.716000 4 8 0 0 1 0 0 OR52A1 23538 broad.mit.edu 37 11 5172912 5172912 + Missense_Mutation SNP G G A TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr11:5172912G>A ENST00000380367.1 - 2 1105 c.688C>T c.(688-690)Cgt>Tgt p.R230C OR52A1_ENST00000328942.1_Missense_Mutation_p.R230C Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, member 1 230 sensory perception of smell integral to plasma membrane olfactory receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGGGCAAACGAAAAACTGTG 0.423000 5 84 0 0 1 0 0 KCNN3 3782 broad.mit.edu 37 1 154842199 154842200 + In_Frame_Ins INS - - GCTGCT rs58327065 TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr1:154842199_154842200insGCTGCT ENST00000271915.3 - 1 556_557 c.241_242insAGCAGC c.(241-243)acc>AGCAGCacc p.80_81insSS NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 80 Poly-Gln. integral to membrane calmodulin binding p.Q80_P81insQQ(2) cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GGGATGCGGTGgctgctgctgc 0.698 5 10 --- --- --- --- SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 2 4 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32522327 32522328 + RNA INS - - CCCAGTAG rs144707340 by1000genomes TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr6:32522327_32522328insCCCAGTAG ENST00000411500.1 - 0 740 NR_001298.1 ACAGGGCTACCCCCAGTGACCT 0.510 5 9 --- --- --- --- FAM66B 0 broad.mit.edu 37 8 7191540 7191541 + RNA DEL CA CA - TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr8:7191540_7191541delCA ENST00000606573.1 - 0 703 GGGGTGcacgcacacacacaca 0.530 7 41 --- --- --- --- SLA 6503 broad.mit.edu 37 8 134050954 134050955 + Frame_Shift_Del DEL TC TC - TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr8:134050954_134050955delTC ENST00000338087.5 - 9 1464_1465 c.645_646delGA c.(643-648)gaacfs p.EN215fs TG_ENST00000377869.1_Intron|SLA_ENST00000517648.1_Frame_Shift_Del_p.EN188fs|SLA_ENST00000524345.1_Frame_Shift_Del_p.EN107fs|SLA_ENST00000395352.3_Frame_Shift_Del_p.EN232fs|TG_ENST00000519543.1_Intron|SLA_ENST00000427060.2_Frame_Shift_Del_p.EN255fs|TG_ENST00000220616.4_Intron|TG_ENST00000542445.1_Intron NM_001045556.2 NP_001039021.1 Q13239 SLAP1_HUMAN Src-like-adaptor 215 SLA C-terminal. endosome SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1) 17 all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037) BRCA - Breast invasive adenocarcinoma(115;0.000701) CCAAGCGGGTTCTCTGTTCCCT 0.530 29 34 --- --- --- --- ARHGAP32 9743 broad.mit.edu 37 11 129034263 129034263 + Frame_Shift_Del DEL T T - TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr11:129034263delT ENST00000310343.9 - 2 175 c.176delA c.(175-177)atfs p.N59fs NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 59 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 AGGGTGTACATTTCTATGTAG 0.348 2 4 --- --- --- --- ZIC2 7546 broad.mit.edu 37 13 100635008 100635010 + In_Frame_Del DEL CCA CCA - TCGA-EL-A4K6-01A-12D-A257-08 TCGA-EL-A4K6-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66eb4833-1b87-4fd9-a53d-26dc7ad6de29 1c4c0193-231e-4559-b362-94c10bbd7f67 g.chr13:100635008_100635010delCCA ENST00000376335.3 + 1 983_985 c.690_692delCCA c.(688-693)gcc>gc p.AH230del NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 230 Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-Ala. brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CAGCCGCGGCccaccaccaccac 0.621 13 88 --- --- --- ---