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 GRIK3 2899 broad.mit.edu 37 1 37282824 37282824 + Missense_Mutation SNP C C A TCGA-HC-A76X-01A-11D-A33T-08 TCGA-HC-A76X-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d9192ed-c94c-472c-b614-fc31cc044d3b f337b49f-54b4-4a3f-9b2e-075249ea8f13 g.chr1:37282824C>A ENST00000373091.3 - 13 1944 c.1928G>T c.(1927-1929)tGg>tTg p.W643L GRIK3_ENST00000373093.4_Missense_Mutation_p.W643L NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 643 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) CGTGAAGAACCACCAGATGCC 0.542 3 48 --- --- --- --- GBP7 388646 broad.mit.edu 37 1 89618421 89618421 + Missense_Mutation SNP C C A TCGA-HC-A76X-01A-11D-A33T-08 TCGA-HC-A76X-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d9192ed-c94c-472c-b614-fc31cc044d3b f337b49f-54b4-4a3f-9b2e-075249ea8f13 g.chr1:89618421C>A ENST00000294671.2 - 4 496 c.358G>T c.(358-360)Gtg>Ttg p.V120L NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 120 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) CTTAGAAGCACAGCCAGGGCA 0.468 14 29 --- --- --- --- AHCYL1 10768 broad.mit.edu 37 1 110555601 110555601 + Missense_Mutation SNP C C A TCGA-HC-A76X-01A-11D-A33T-08 TCGA-HC-A76X-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d9192ed-c94c-472c-b614-fc31cc044d3b f337b49f-54b4-4a3f-9b2e-075249ea8f13 g.chr1:110555601C>A ENST00000369799.5 + 5 927 c.560C>A c.(559-561)gCt>gAt p.A187D AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000393614.4_Missense_Mutation_p.A140D|AHCYL1_ENST00000359172.3_Missense_Mutation_p.A140D NM_001242673.1|NM_001242674.1|NM_006621.5 NP_001229602.1|NP_001229603.1|NP_006612.2 O43865 SAHH2_HUMAN adenosylhomocysteinase-like 1 187 one-carbon metabolic process endoplasmic reticulum adenosylhomocysteinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2) 18 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143) AATGAAGTAGCTGCAGCACTG 0.443 3 28 --- --- --- --- TTC13 79573 broad.mit.edu 37 1 231060649 231060649 + Missense_Mutation SNP C C T TCGA-HC-A76X-01A-11D-A33T-08 TCGA-HC-A76X-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d9192ed-c94c-472c-b614-fc31cc044d3b f337b49f-54b4-4a3f-9b2e-075249ea8f13 g.chr1:231060649C>T ENST00000366661.4 - 14 1666 c.1659G>A c.(1657-1659)atG>atA p.M553I TTC13_ENST00000414259.1_Missense_Mutation_p.M500I|TTC13_ENST00000366662.4_Missense_Mutation_p.M500I NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 553 binding central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) TCTTCCCATTCATTCGAACTT 0.433 34 47 --- --- --- --- HEATR1 55127 broad.mit.edu 37 1 236744591 236744591 + Missense_Mutation SNP C C T TCGA-HC-A76X-01A-11D-A33T-08 TCGA-HC-A76X-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d9192ed-c94c-472c-b614-fc31cc044d3b f337b49f-54b4-4a3f-9b2e-075249ea8f13 g.chr1:236744591C>T ENST00000366582.3 - 20 2800 c.2686G>A c.(2686-2688)Gtg>Atg p.V896M HEATR1_ENST00000366581.2_Missense_Mutation_p.V896M NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 896 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) GCACAGCCCACATAAAGAGCT 0.398 8 104 --- --- --- --- CPS1 1373 broad.mit.edu 37 2 211542610 211542610 + Splice_Site SNP G G A TCGA-HC-A76X-01A-11D-A33T-08 TCGA-HC-A76X-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d9192ed-c94c-472c-b614-fc31cc044d3b f337b49f-54b4-4a3f-9b2e-075249ea8f13 g.chr2:211542610G>A ENST00000233072.5 + 38 4600 c.e38-1 CPS1_ENST00000451903.2_Splice_Site|CPS1_ENST00000430249.2_Splice_Site NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TATATTTTCAGGTGACCAAAC 0.413 4 160 --- --- --- --- WDR48 57599 broad.mit.edu 37 3 39125653 39125653 + Missense_Mutation SNP A A C TCGA-HC-A76X-01A-11D-A33T-08 TCGA-HC-A76X-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d9192ed-c94c-472c-b614-fc31cc044d3b f337b49f-54b4-4a3f-9b2e-075249ea8f13 g.chr3:39125653A>C ENST00000302313.5 + 12 1209 c.1181A>C c.(1180-1182)aAa>aCa p.K394T WDR48_ENST00000396258.3_Missense_Mutation_p.K312T|WDR48_ENST00000544962.1_Missense_Mutation_p.K119T|WDR48_ENST00000418020.1_5'UTR NM_020839.2 NP_065890.1 Q8TAF3 WDR48_HUMAN WD repeat domain 48 394 interspecies interaction between organisms|protein deubiquitination lysosome|nucleus protein binding breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) TAGGCATGTAAAGTTGAAGAT 0.303 9 17 --- --- --- --- BDP1 55814 broad.mit.edu 37 5 70856003 70856003 + Missense_Mutation SNP G G T TCGA-HC-A76X-01A-11D-A33T-08 TCGA-HC-A76X-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d9192ed-c94c-472c-b614-fc31cc044d3b f337b49f-54b4-4a3f-9b2e-075249ea8f13 g.chr5:70856003G>T ENST00000358731.4 + 37 7698 c.7435G>T c.(7435-7437)Gct>Tct p.A2479S BDP1_ENST00000380675.2_3'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 2479 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AAGAACTGATGCTGCTCCTAA 0.413 3 39 --- --- --- --- VARS 7407 broad.mit.edu 37 6 31748517 31748517 + Missense_Mutation SNP G G C TCGA-HC-A76X-01A-11D-A33T-08 TCGA-HC-A76X-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d9192ed-c94c-472c-b614-fc31cc044d3b f337b49f-54b4-4a3f-9b2e-075249ea8f13 g.chr6:31748517G>C ENST00000375663.3 - 24 3202 c.2762C>G c.(2761-2763)gCt>gGt p.A921G VARS_ENST00000482996.1_5'UTR NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 921 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) AAACCGGAGAGCATCGGTGCC 0.602 20 32 --- --- --- --- GUCA1A 2978 broad.mit.edu 37 6 42146547 42146547 + Missense_Mutation SNP G G A TCGA-HC-A76X-01A-11D-A33T-08 TCGA-HC-A76X-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d9192ed-c94c-472c-b614-fc31cc044d3b f337b49f-54b4-4a3f-9b2e-075249ea8f13 g.chr6:42146547G>A ENST00000394237.1 + 5 1335 c.359G>A c.(358-360)cGc>cAc p.R120H GUCA1A_ENST00000541991.1_Missense_Mutation_p.R120H|GUCA1A_ENST00000053469.4_Missense_Mutation_p.R120H|GUCA1A_ENST00000372958.1_Missense_Mutation_p.R120H P43080 GUC1A_HUMAN guanylate cyclase activator 1A (retina) 120 EF-hand 3. signal transduction|visual perception membrane calcium ion binding|calcium sensitive guanylate cyclase activator activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 7 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CAGGCCATTCGCGCCATTAAC 0.587 63 106 --- --- --- --- DST 667 broad.mit.edu 37 6 56362658 56362658 + Missense_Mutation SNP C C T TCGA-HC-A76X-01A-11D-A33T-08 TCGA-HC-A76X-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d9192ed-c94c-472c-b614-fc31cc044d3b f337b49f-54b4-4a3f-9b2e-075249ea8f13 g.chr6:56362658C>T ENST00000370754.5 - 81 19996 c.19997G>A c.(19996-19998)cGc>cAc p.R6666H DST_ENST00000244364.6_Missense_Mutation_p.R4074H|DST_ENST00000340834.4_5'UTR|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.R6488H|DST_ENST00000370788.2_Missense_Mutation_p.R4291H|DST_ENST00000446842.2_Missense_Mutation_p.R6162H|DST_ENST00000361203.3_Missense_Mutation_p.R6377H|DST_ENST00000421834.2_Missense_Mutation_p.R4400H Q03001 DYST_HUMAN dystonin 6486 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ACTCACCTGGCGCAAGGCACC 0.373 5 15 --- --- --- --- GABRR2 2570 broad.mit.edu 37 6 90024832 90024832 + Missense_Mutation SNP A A C TCGA-HC-A76X-01A-11D-A33T-08 TCGA-HC-A76X-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d9192ed-c94c-472c-b614-fc31cc044d3b f337b49f-54b4-4a3f-9b2e-075249ea8f13 g.chr6:90024832A>C ENST00000402938.3 - 1 186 c.53T>G c.(52-54)gTg>gGg p.V18G GABRR2_ENST00000602399.1_Missense_Mutation_p.V43G|GABRR2_ENST00000602808.1_5'UTR NM_002043.3 NP_002034.3 P28476 GBRR2_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 2 43 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1) 21 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) TCTGCTCTCCACGAGAACCAT 0.478 5 159 --- --- --- --- VPS13B 157680 broad.mit.edu 37 8 100182325 100182325 + Missense_Mutation SNP C C T TCGA-HC-A76X-01A-11D-A33T-08 TCGA-HC-A76X-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d9192ed-c94c-472c-b614-fc31cc044d3b f337b49f-54b4-4a3f-9b2e-075249ea8f13 g.chr8:100182325C>T ENST00000395996.1 + 16 2378 c.2267C>T c.(2266-2268)cCt>cTt p.P756L VPS13B_ENST00000355155.1_Missense_Mutation_p.P756L|VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.P756L|VPS13B_ENST00000358544.2_Missense_Mutation_p.P756L Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 756 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TACTGCTTACCTGTACCAGTT 0.393 8 45 --- --- --- --- QSER1 79832 broad.mit.edu 37 11 32994952 32994952 + Missense_Mutation SNP G G C TCGA-HC-A76X-01A-11D-A33T-08 TCGA-HC-A76X-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d9192ed-c94c-472c-b614-fc31cc044d3b f337b49f-54b4-4a3f-9b2e-075249ea8f13 g.chr11:32994952G>C ENST00000399302.2 + 11 5163 c.4828G>C c.(4828-4830)Gaa>Caa p.E1610Q QSER1_ENST00000527788.1_Missense_Mutation_p.E1371Q NM_001076786.1 NP_001070254.1 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 1610 breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) GAATGCTTTGGAAAGTTTTCC 0.328 18 44 --- --- --- --- MYCBP2 23077 broad.mit.edu 37 13 77738587 77738587 + Splice_Site SNP A A G TCGA-HC-A76X-01A-11D-A33T-08 TCGA-HC-A76X-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d9192ed-c94c-472c-b614-fc31cc044d3b f337b49f-54b4-4a3f-9b2e-075249ea8f13 g.chr13:77738587A>G ENST00000407578.2 - 43 6814 c.e43+1 MYCBP2_ENST00000357337.6_Splice_Site|MYCBP2_ENST00000544440.2_Splice_Site|MYCBP2_ENST00000360084.5_Splice_Site NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GGCCACACTTACCAATAGGAA 0.368 3 31 --- --- --- --- CDC16 8881 broad.mit.edu 37 13 115016141 115016141 + Silent SNP G G A TCGA-HC-A76X-01A-11D-A33T-08 TCGA-HC-A76X-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d9192ed-c94c-472c-b614-fc31cc044d3b f337b49f-54b4-4a3f-9b2e-075249ea8f13 g.chr13:115016141G>A ENST00000360383.3 + 12 1287 c.1089G>A c.(1087-1089)ctG>ctA p.L363L CDC16_ENST00000375312.3_Silent_p.L269L|CDC16_ENST00000252457.5_Silent_p.L362L|CDC16_ENST00000375310.1_Silent_p.L269L|CDC16_ENST00000375308.1_Silent_p.L269L|CDC16_ENST00000356221.3_Silent_p.L363L|CDC16_ENST00000252458.6_Silent_p.L269L NM_001078645.1|NM_003903.3 NP_001072113.1|NP_003894.3 Q13042 CDC16_HUMAN cell division cycle 16 363 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule binding endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) CAGCACAGCTGATGAAAGGGT 0.433 19 18 --- --- --- --- RYR3 6263 broad.mit.edu 37 15 33895402 33895402 + Missense_Mutation SNP C C A TCGA-HC-A76X-01A-11D-A33T-08 TCGA-HC-A76X-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d9192ed-c94c-472c-b614-fc31cc044d3b f337b49f-54b4-4a3f-9b2e-075249ea8f13 g.chr15:33895402C>A ENST00000389232.4 + 18 2071 c.2001C>A c.(1999-2001)gaC>gaA p.D667E RYR3_ENST00000415757.3_Missense_Mutation_p.D667E NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 667 B30.2/SPRY 1. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TGATTATCGACCAGGTGGACC 0.567 37 91 --- --- --- --- PAQR5 54852 broad.mit.edu 37 15 69696052 69696052 + Missense_Mutation SNP T T C TCGA-HC-A76X-01A-11D-A33T-08 TCGA-HC-A76X-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d9192ed-c94c-472c-b614-fc31cc044d3b f337b49f-54b4-4a3f-9b2e-075249ea8f13 g.chr15:69696052T>C ENST00000340965.3 + 9 1552 c.884T>C c.(883-885)aTa>aCa p.I295T RP11-253M7.1_ENST00000558617.1_RNA|RP11-253M7.1_ENST00000560539.1_RNA|PAQR5_ENST00000395407.2_Missense_Mutation_p.I295T|PAQR5_ENST00000561153.1_Missense_Mutation_p.I295T NM_001104554.1 NP_001098024.1 Q9NXK6 MPRG_HUMAN progestin and adipoQ receptor family member V 295 cell differentiation|multicellular organismal development|oogenesis integral to membrane receptor activity|steroid binding endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1) 11 TTCTCTCAGATAGCTGGAGCC 0.473 3 65 --- --- --- --- USP22 23326 broad.mit.edu 37 17 20922442 20922442 + Nonsense_Mutation SNP T T A TCGA-HC-A76X-01A-11D-A33T-08 TCGA-HC-A76X-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d9192ed-c94c-472c-b614-fc31cc044d3b f337b49f-54b4-4a3f-9b2e-075249ea8f13 g.chr17:20922442T>A ENST00000261497.4 - 4 678 c.475A>T c.(475-477)Aag>Tag p.K159* USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Nonsense_Mutation_p.K147* NM_015276.1 NP_056091.1 Q9UPT9 UBP22_HUMAN ubiquitin specific peptidase 22 159 cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 15 GGGTTGTGCTTCAGCAGTTCA 0.478 51 78 --- --- --- --- PCOLCE 5118 broad.mit.edu 37 7 100205618 100205618 + Frame_Shift_Del DEL A A - TCGA-HC-A76X-01A-11D-A33T-08 TCGA-HC-A76X-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d9192ed-c94c-472c-b614-fc31cc044d3b f337b49f-54b4-4a3f-9b2e-075249ea8f13 g.chr7:100205618delA ENST00000223061.5 + 9 1522 c.1242delA c.(1240-1242)ccafs p.P414fs NM_002593.3 NP_002584.2 Q15113 PCOC1_HUMAN procollagen C-endopeptidase enhancer 414 NTR. multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) TCCTTCCTCCAGAGAGCTTTG 0.567 30 49 --- --- --- ---