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 NPHP4 261734 broad.mit.edu 37 1 5969267 5969267 + Missense_Mutation SNP G C C TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr1:5969267G>C uc001alq.1 - 12 1714 c.1448C>G c.(1447-1449)CCA>CGA p.P483R NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_Intron|NPHP4_uc001alt.1_Intron NM_015102 NP_055917 O75161 NPHP4_HUMAN nephroretinin 483 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity pancreas(1) 1 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) TACTGGCGCTGGCGGGCCTGG 0.642 PRAMEF2 65122 broad.mit.edu 37 1 12918957 12918957 + Silent SNP G A A TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr1:12918957G>A uc001aum.1 + 2 180 c.93G>A c.(91-93)CTG>CTA p.L31L NM_023014 NP_075390 O60811 PRAM2_HUMAN PRAME family member 2 31 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGGAGGAGCTGCCCAGGGTGC 0.622 MACF1 23499 broad.mit.edu 37 1 39753206 39753206 + Missense_Mutation SNP A T T TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr1:39753206A>T uc010ois.1 + 16 1977 c.1772A>T c.(1771-1773)GAA>GTA p.E591V MACF1_uc001cda.1_Missense_Mutation_p.E499V NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 591 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) 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) TTTGTGTATGAACTACTGTCT 0.463 FAAH 2166 broad.mit.edu 37 1 46871972 46871972 + Nonsense_Mutation SNP C T T TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr1:46871972C>T uc001cpu.2 + 7 965 c.883C>T c.(883-885)CGA>TGA p.R295* FAAH_uc001cpv.2_Intron NM_001441 NP_001432 O00519 FAAH1_HUMAN fatty acid amide hydrolase 295 Cytoplasmic (By similarity). fatty acid catabolic process cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(166;0.155) Propofol(DB00818)|Thiopental(DB00599) ACTGTGCCTGCGAGCCCTGCT 0.642 OREG0013458 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) HOOK1 51361 broad.mit.edu 37 1 60312821 60312821 + Missense_Mutation SNP A T T TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr1:60312821A>T uc009wad.2 + 11 995 c.893A>T c.(892-894)GAA>GTA p.E298V HOOK1_uc001czo.2_Missense_Mutation_p.E298V|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Missense_Mutation_p.E256V NM_015888 NP_056972 Q9UJC3 HOOK1_HUMAN hook homolog 1 298 Potential.|Sufficient for interaction with microtubules. early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport FHF complex|microtubule identical protein binding ovary(1)|breast(1) 2 all_cancers(7;0.000129) CTTGCAGAAGAAACAAGAGCC 0.348 PDE4B 5142 broad.mit.edu 37 1 66831413 66831413 + Missense_Mutation SNP C T T TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr1:66831413C>T uc001dcn.2 + 13 1539 c.1348C>T c.(1348-1350)CAT>TAT p.H450Y PDE4B_uc009war.2_Missense_Mutation_p.H358Y|PDE4B_uc001dco.2_Missense_Mutation_p.H450Y|PDE4B_uc001dcp.2_Missense_Mutation_p.H435Y|PDE4B_uc001dcq.2_Missense_Mutation_p.H278Y|PDE4B_uc009was.2_Missense_Mutation_p.H217Y NM_001037341 NP_001032418 Q07343 PDE4B_HUMAN phosphodiesterase 4B isoform 1 450 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) TGACGTTGATCATCCTGGAGT 0.418 SLC44A3 126969 broad.mit.edu 37 1 95322914 95322914 + Missense_Mutation SNP G A A TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr1:95322914G>A uc001dqv.3 + 10 1203 c.1096G>A c.(1096-1098)GGC>AGC p.G366S SLC44A3_uc001dqx.3_Missense_Mutation_p.G366S|SLC44A3_uc010otq.1_Missense_Mutation_p.G298S|SLC44A3_uc010otr.1_Missense_Mutation_p.G330S|SLC44A3_uc001dqw.3_Missense_Mutation_p.G318S|SLC44A3_uc010ots.1_Missense_Mutation_p.G286S|SLC44A3_uc009wds.2_Missense_Mutation_p.G269S|SLC44A3_uc010ott.1_Missense_Mutation_p.G286S|SLC44A3_uc010otu.1_RNA NM_001114106 NP_001107578 Q8N4M1 CTL3_HUMAN solute carrier family 44, member 3 isoform 1 366 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1) 1 all_lung(203;0.000712)|Lung NSC(277;0.00316) all cancers(265;0.039)|Epithelial(280;0.124) Choline(DB00122) TATGGAAGGCGGCCAAGTGGA 0.458 FLG2 388698 broad.mit.edu 37 1 152327770 152327770 + Missense_Mutation SNP G T T TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr1:152327770G>T uc001ezw.3 - 3 2565 c.2492C>A c.(2491-2493)TCT>TAT p.S831Y uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 831 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCAAAGCCAGAGGATTGTCC 0.517 GORAB 92344 broad.mit.edu 37 1 170508571 170508571 + Silent SNP C T T TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr1:170508571C>T uc001gha.2 + 2 384 c.357C>T c.(355-357)CCC>CCT p.P119P GORAB_uc009wvw.2_3'UTR|GORAB_uc001ggz.3_Silent_p.P119P|GORAB_uc009wvx.2_5'UTR|GORAB_uc001ghb.2_5'UTR|GORAB_uc001ghc.2_5'UTR NM_152281 NP_689494 Q5T7V8 GORAB_HUMAN golgin, RAB6-interacting isoform a 119 Golgi apparatus|nucleus 0 TCACCTCCCCCGTTGGTGATG 0.468 NEK7 140609 broad.mit.edu 37 1 198262082 198262082 + Silent SNP G A A TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr1:198262082G>A uc001gun.3 + 8 924 c.597G>A c.(595-597)ACG>ACA p.T199T NM_133494 NP_598001 Q8TDX7 NEK7_HUMAN NIMA-related kinase 7 199 Protein kinase. cytoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(2)|lung(1)|ovary(1) 4 CAGTTGGTACGCCTTATTACA 0.323 HNRNPU 3192 broad.mit.edu 37 1 245025769 245025769 + Missense_Mutation SNP C G G TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr1:245025769C>G uc001iaz.1 - 3 1089 c.871G>C c.(871-873)GAT>CAT p.D291H HNRNPU_uc001iax.1_5'Flank|HNRNPU_uc001iay.1_5'Flank|HNRNPU_uc001iba.1_Missense_Mutation_p.D272H|HNRNPU_uc001ibb.1_5'UTR NM_031844 NP_114032 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U 291 B30.2/SPRY. CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding 0 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) TTACAAGTATCAAGACAAACC 0.378 C10orf18 54906 broad.mit.edu 37 10 5804609 5804609 + Nonsense_Mutation SNP G A A TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr10:5804609G>A uc001iij.2 + 20 7914 c.7289G>A c.(7288-7290)TGG>TAG p.W2430* C10orf18_uc001iik.2_Nonsense_Mutation_p.W1274* NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 2430 ovary(1)|central_nervous_system(1) 2 AGTAGCTATTGGTAAGAACAC 0.343 MYO3A 53904 broad.mit.edu 37 10 26414537 26414537 + Missense_Mutation SNP G T T rs141374777 TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr10:26414537G>T uc001isn.2 + 19 2474 c.2114G>T c.(2113-2115)AGT>ATT p.S705I MYO3A_uc009xko.1_Missense_Mutation_p.S705I|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 705 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 TCATCACCAAGGTAAAAATTT 0.338 MPP7 143098 broad.mit.edu 37 10 28378639 28378639 + Nonsense_Mutation SNP G A A TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr10:28378639G>A uc001iua.1 - 14 1488 c.1084C>T c.(1084-1086)CGA>TGA p.R362* MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Nonsense_Mutation_p.R362*|MPP7_uc009xla.2_Nonsense_Mutation_p.R362*|MPP7_uc010qdv.1_RNA NM_173496 NP_775767 Q5T2T1 MPP7_HUMAN palmitoylated membrane protein 7 362 establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity ovary(1) 1 TTAGTTTGTCGCCGATACGGT 0.383 RUFY2 55680 broad.mit.edu 37 10 70139220 70139220 + Missense_Mutation SNP G T T TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr10:70139220G>T uc001job.2 - 12 1598 c.1271C>A c.(1270-1272)ACC>AAC p.T424N RUFY2_uc001jnz.1_RNA|RUFY2_uc001joa.2_5'Flank|RUFY2_uc001joc.2_Missense_Mutation_p.T355N|RUFY2_uc010qiw.1_Missense_Mutation_p.T331N|RUFY2_uc001jod.1_Missense_Mutation_p.T389N NM_017987 NP_060457 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain-containing 2 isoform a 438 Potential. nucleus metal ion binding ovary(1) 1 AATTTTATTGGTTTTTTCTTC 0.274 ZMIZ1 57178 broad.mit.edu 37 10 81058831 81058831 + Missense_Mutation SNP T G G TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr10:81058831T>G uc001kaf.2 + 16 2263 c.1691T>G c.(1690-1692)CTC>CGC p.L564R ZMIZ1_uc001kag.2_Missense_Mutation_p.L440R NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN retinoic acid induced 17 564 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding ovary(2)|breast(1)|skin(1) 4 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) GAGCTGCGGCTCACATTCCCT 0.647 MAPK8IP1 9479 broad.mit.edu 37 11 45923593 45923593 + Silent SNP A T T TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr11:45923593A>T uc001nbr.2 + 4 755 c.585A>T c.(583-585)TCA>TCT p.S195S NM_005456 NP_005447 Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting 195 JNK-binding domain (JBD). vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity ovary(2)|breast(1)|skin(1) 4 GBM - Glioblastoma multiforme(35;0.231) TGTCTCGATCATCCTCACCCC 0.527 DLAT 1737 broad.mit.edu 37 11 111899615 111899615 + Silent SNP G A A rs148153443 TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr11:111899615G>A uc001pmo.2 + 4 1265 c.606G>A c.(604-606)TCG>TCA p.S202S DLAT_uc009yyk.1_Silent_p.S202S|DLAT_uc010rwr.1_Intron NM_001931 NP_001922 P10515 ODP2_HUMAN dihydrolipoamide S-acetyltransferase precursor 202 glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial pyruvate dehydrogenase complex dihydrolipoyllysine-residue acetyltransferase activity|protein binding 0 all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557) NADH(DB00157) CCACTGCTTCGCCACCTACAC 0.532 HTR3A 3359 broad.mit.edu 37 11 113857602 113857602 + Silent SNP C A A TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr11:113857602C>A uc010rxb.1 + 7 1319 c.1086C>A c.(1084-1086)ATC>ATA p.I362I HTR3A_uc010rxa.1_Silent_p.I330I|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Silent_p.I309I NM_213621 NP_998786 P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A 324 Cytoplasmic (Potential). digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) CCGAGACCATCTTCATTGTGC 0.582 HTR3A 3359 broad.mit.edu 37 11 113857614 113857614 + Silent SNP G C C TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr11:113857614G>C uc010rxb.1 + 7 1331 c.1098G>C c.(1096-1098)CGG>CGC p.R366R HTR3A_uc010rxa.1_Silent_p.R334R|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Silent_p.R313R NM_213621 NP_998786 P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A 328 Cytoplasmic (Potential). digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) TCATTGTGCGGCTGGTGCACA 0.572 APOA5 116519 broad.mit.edu 37 11 116661604 116661604 + Missense_Mutation SNP G A A TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr11:116661604G>A uc001ppr.2 - 3 349 c.341C>T c.(340-342)GCG>GTG p.A114V ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Missense_Mutation_p.A114V|APOA5_uc009yzf.2_Missense_Mutation_p.A114V|APOA5_uc009yzg.2_Missense_Mutation_p.A140V NM_052968 NP_443200 Q6Q788 APOA5_HUMAN apolipoprotein AV precursor 114 Potential. acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding 0 all_hematologic(175;0.0487) all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149) CAGCTCGTGCGCCTCTGCCAT 0.662 GRIP1 23426 broad.mit.edu 37 12 66786170 66786170 + Missense_Mutation SNP C T T TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr12:66786170C>T uc001stk.2 - 18 2467 c.2226G>A c.(2224-2226)ATG>ATA p.M742I GRIP1_uc010sta.1_Missense_Mutation_p.M686I|GRIP1_uc001stj.2_Missense_Mutation_p.M524I|GRIP1_uc001stl.1_Missense_Mutation_p.M634I|GRIP1_uc001stm.2_Missense_Mutation_p.M742I NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 794 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) TGGAGGGGTACATGTCGGAGA 0.537 GOLGA3 2802 broad.mit.edu 37 12 133381337 133381337 + Missense_Mutation SNP T A A TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr12:133381337T>A uc001ukz.1 - 7 2121 c.1562A>T c.(1561-1563)GAC>GTC p.D521V GOLGA3_uc001ula.1_Missense_Mutation_p.D521V|GOLGA3_uc001ulb.2_Missense_Mutation_p.D521V NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 521 Potential. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) CCTCTGCATGTCCTCTACCTT 0.607 BRCA2 675 broad.mit.edu 37 13 32914389 32914389 + Missense_Mutation SNP A G G rs80358823 TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr13:32914389A>G uc001uub.1 + 11 6124 c.5897A>G c.(5896-5898)CAT>CGT p.H1966R NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 1966 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) GGGAAGCTTCATAAGTCAGTC 0.358 D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) SLITRK6 84189 broad.mit.edu 37 13 86370282 86370282 + Missense_Mutation SNP T G G TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr13:86370282T>G uc001vll.1 - 2 821 c.362A>C c.(361-363)CAC>CCC p.H121P SLITRK6_uc010afe.1_5'Flank NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 121 Extracellular (Potential).|LRR 2. integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TAAAGAATTGTGATTGATATG 0.353 SALL2 6297 broad.mit.edu 37 14 21991030 21991030 + Missense_Mutation SNP G T T TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr14:21991030G>T uc001wbe.2 - 2 3114 c.2832C>A c.(2830-2832)TTC>TTA p.F944L SALL2_uc010tly.1_Missense_Mutation_p.F942L|SALL2_uc010tlz.1_Missense_Mutation_p.F807L|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.F809L|SALL2_uc001wbg.1_Intron NM_005407 NP_005398 Q9Y467 SALL2_HUMAN sal-like 2 944 C2H2-type 7. DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|large_intestine(1) 3 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) CCTGCCTGCAGAAAACACAAG 0.597 ACIN1 22985 broad.mit.edu 37 14 23531439 23531439 + Missense_Mutation SNP C T T rs138390500 byFrequency TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr14:23531439C>T uc001wit.3 - 16 3539 c.3211G>A c.(3211-3213)GGG>AGG p.G1071R ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.G313R|ACIN1_uc001wiq.3_Missense_Mutation_p.G313R|ACIN1_uc001wir.3_Missense_Mutation_p.G344R|ACIN1_uc001wis.3_Missense_Mutation_p.G752R|ACIN1_uc010akg.2_Missense_Mutation_p.G1058R NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 1071 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) CATTTGACCCCGTGCAGAGCT 0.552 RPAP1 26015 broad.mit.edu 37 15 41819389 41819389 + Silent SNP C T T TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr15:41819389C>T uc001zod.2 - 13 1846 c.1722G>A c.(1720-1722)CGG>CGA p.R574R NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 574 nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) CCAGGGAATGCCGGGCCAGGC 0.612 SECISBP2L 9728 broad.mit.edu 37 15 49325161 49325161 + Splice_Site SNP C G G TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr15:49325161C>G uc001zxe.1 - 4 798 c.664_splice c.e4+1 p.D222_splice SECISBP2L_uc001zxd.1_Splice_Site_p.D222_splice|SECISBP2L_uc010bep.1_Splice_Site|SECISBP2L_uc010beq.1_Intron NM_014701 NP_055516 Q93073 SBP2L_HUMAN SECIS binding protein 2-like breast(1)|skin(1) 2 CCTTGCCTTACCAGTTTGCTG 0.393 SECISBP2L 9728 broad.mit.edu 37 15 49325180 49325180 + Missense_Mutation SNP C G G TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr15:49325180C>G uc001zxe.1 - 4 780 c.646G>C c.(646-648)GAT>CAT p.D216H SECISBP2L_uc001zxd.1_Missense_Mutation_p.D216H|SECISBP2L_uc010bep.1_5'UTR|SECISBP2L_uc010beq.1_Intron NM_014701 NP_055516 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 216 breast(1)|skin(1) 2 TGTGAAGCATCTACCAGAAGC 0.398 FBXO22 26263 broad.mit.edu 37 15 76225151 76225151 + Missense_Mutation SNP A G G TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr15:76225151A>G uc002bbk.2 + 7 1025 c.920A>G c.(919-921)CAG>CGG p.Q307R FBXO22_uc002bbl.2_Missense_Mutation_p.Q203R|FBXO22OS_uc002bbm.1_RNA NM_147188 NP_671717 Q8NEZ5 FBX22_HUMAN F-box only protein 22 isoform a 307 ubiquitin-dependent protein catabolic process ubiquitin-protein ligase activity 0 GCTGCGATGCAGCGCCTCAAA 0.527 TSC2 7249 broad.mit.edu 37 16 2138318 2138318 + Missense_Mutation SNP C T T TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr16:2138318C>T uc002con.2 + 41 5357 c.5251C>T c.(5251-5253)CGC>TGC p.R1751C TSC2_uc010bsd.2_Missense_Mutation_p.R1728C|TSC2_uc002coo.2_Missense_Mutation_p.R1684C|TSC2_uc010uvv.1_Missense_Mutation_p.R1648C|TSC2_uc010uvw.1_Missense_Mutation_p.R1636C|TSC2_uc002cop.2_Missense_Mutation_p.R1507C|TSC2_uc002coq.2_Missense_Mutation_p.R526C|TSC2_uc002cor.2_Missense_Mutation_p.R452C NM_000548 NP_000539 P49815 TSC2_HUMAN tuberous sclerosis 2 isoform 1 1751 Rap-GAP. Missing (in TSC2). RLR->QLQ: No effect. cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1) 10 Hepatocellular(780;0.0202) CAAGCGGCTCCGCCAGCGGGT 0.662 D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis RRAD 6236 broad.mit.edu 37 16 66957423 66957424 + Missense_Mutation DNP CA AC AC TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr16:66957423_66957424CA>AC uc002eqn.2 - 4 796_797 c.644_645TG>GT c.(643-645)GTG>GGT p.V215G RRAD_uc002eqo.2_Missense_Mutation_p.V215G NM_001128850 NP_001122322 P55042 RAD_HUMAN Ras-related associated with diabetes 215 small GTPase mediated signal transduction plasma membrane calmodulin binding|GTP binding|GTPase activity 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198) ACTCACCATCCACCGAGACCTC 0.634 ACADVL 37 broad.mit.edu 37 17 7125285 7125285 + Missense_Mutation SNP G A A rs140629318 TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr17:7125285G>A uc002gev.2 + 8 788 c.637G>A c.(637-639)GCT>ACT p.A213T DLG4_uc002get.3_5'Flank|DLG4_uc010vto.1_5'Flank|ACADVL_uc010vtp.1_Missense_Mutation_p.A223T|ACADVL_uc010vtq.1_Missense_Mutation_p.A259T|ACADVL_uc002gew.2_Missense_Mutation_p.A191T|ACADVL_uc002gex.2_Missense_Mutation_p.A137T NM_000018 NP_000009 P49748 ACADV_HUMAN acyl-Coenzyme A dehydrogenase, very long chain 213 Catalytic. A -> P (in ACADVLD). energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial inner membrane|mitochondrial nucleoid long-chain-acyl-CoA dehydrogenase activity ovary(3) 3 GACTGTGGCCGCTTTCTGTCT 0.572 TP53 7157 broad.mit.edu 37 17 7577149 7577149 + Frame_Shift_Del DEL A - - TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr17:7577149delA uc002gim.2 - 8 983 c.789delT c.(787-789)AATfs p.N263fs TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.N263fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.N131fs|TP53_uc010cng.1_Frame_Shift_Del_p.N131fs|TP53_uc002gii.1_Frame_Shift_Del_p.N131fs|TP53_uc010cnh.1_Frame_Shift_Del_p.N263fs|TP53_uc010cni.1_Frame_Shift_Del_p.N263fs|TP53_uc002gij.2_Frame_Shift_Del_p.N263fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 263 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). GN -> PD (in a sporadic cancer; somatic mutation).|N -> S (in a sporadic cancer; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> D (in sporadic cancers; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.N263fs*82(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.N263D(2)|p.N263I(2)|p.G262_S269delGNLLGRNS(2)|p.N263H(2)|p.E258fs*71(1)|p.S261_L264>R(1)|p.N263fs*84(1)|p.N263K(1)|p.G262fs*2(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTCCCAGTAGATTACCACTAC 0.517 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) SLC13A2 9058 broad.mit.edu 37 17 26823547 26823547 + Missense_Mutation SNP T C C TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr17:26823547T>C uc002hbh.2 + 11 1617 c.1550T>C c.(1549-1551)GTG>GCG p.V517A SLC13A2_uc010wam.1_Missense_Mutation_p.V473A|SLC13A2_uc010wan.1_Missense_Mutation_p.V566A|SLC13A2_uc010wao.1_Missense_Mutation_p.V474A|SLC13A2_uc002hbi.2_Missense_Mutation_p.V446A NM_003984 NP_003975 Q13183 S13A2_HUMAN solute carrier family 13, member 2 isoform b 517 Helical; (Potential). integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity 0 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) ATGTTGCCTGTGGCCACCCCG 0.617 MYO18A 399687 broad.mit.edu 37 17 27424842 27424842 + Missense_Mutation SNP C T T TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr17:27424842C>T uc002hdt.1 - 26 4224 c.4066G>A c.(4066-4068)GCG>ACG p.A1356T MYO18A_uc010wbc.1_Missense_Mutation_p.A898T|MYO18A_uc002hds.2_Missense_Mutation_p.A898T|MYO18A_uc010csa.1_Missense_Mutation_p.A1356T|MYO18A_uc002hdu.1_Missense_Mutation_p.A1356T|MYO18A_uc010wbd.1_Missense_Mutation_p.A1025T NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 1356 Potential. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity 0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) TTGATCTCCGCTGCCCGGATG 0.602 SUZ12 23512 broad.mit.edu 37 17 30320320 30320320 + Missense_Mutation SNP G A A TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr17:30320320G>A uc002hgs.2 + 11 1483 c.1261G>A c.(1261-1263)GAA>AAA p.E421K SUZ12_uc002hgt.2_Missense_Mutation_p.E398K NM_015355 NP_056170 Q15022 SUZ12_HUMAN joined to JAZF1 421 negative regulation of cell differentiation|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|methylated histone residue binding|zinc ion binding JAZF1/SUZ12(131) soft_tissue(98)|endometrium(33) 131 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231) TACTCCAAATGAAAACCGACA 0.264 T JAZF1 endometrial stromal tumours GNGT2 2793 broad.mit.edu 37 17 47284162 47284162 + Missense_Mutation SNP T C C TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr17:47284162T>C uc002ioo.1 - 4 474 c.167A>G c.(166-168)GAC>GGC p.D56G NM_031498 NP_113686 O14610 GBGT2_HUMAN guanine nucleotide binding protein-gamma 56 G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission extracellular region|heterotrimeric G-protein complex GTPase activity|signal transducer activity 0 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) GGGATTCTTGTCCTCAGGGAT 0.507 WIPI1 55062 broad.mit.edu 37 17 66417949 66417949 + Missense_Mutation SNP G A A TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr17:66417949G>A uc010dey.2 - 13 1397 c.1306C>T c.(1306-1308)CGT>TGT p.R436C WIPI1_uc002jhd.3_RNA|WIPI1_uc010wqo.1_Missense_Mutation_p.R354C|WIPI1_uc002jhe.3_RNA NM_017983 NP_060453 Q5MNZ9 WIPI1_HUMAN WD repeat domain, phosphoinositide interacting 436 macroautophagy|vesicle targeting, trans-Golgi to endosome autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding 0 TGATTTCCACGGCACAAGATT 0.468 CLUL1 27098 broad.mit.edu 37 18 633305 633305 + Missense_Mutation SNP C A A TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr18:633305C>A uc002kkp.2 + 6 1009 c.864C>A c.(862-864)GAC>GAA p.D288E CLUL1_uc010wys.1_Missense_Mutation_p.D340E|CLUL1_uc002kkq.2_Missense_Mutation_p.D288E NM_014410 NP_055225 Q15846 CLUL1_HUMAN clusterin-like 1 (retinal) precursor 288 cell death extracellular region ovary(2) 2 TAGCTCCTGACCACGGAGGCC 0.428 TCEB3C 162699 broad.mit.edu 37 18 44554624 44554624 + Silent SNP C T T TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr18:44554624C>T uc010xdb.1 - 1 1826 c.1590G>A c.(1588-1590)CCG>CCA p.P530P KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_145653 NP_663628 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 530 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding 0 TGGCCATCAGCGGGGCCACTT 0.368 SLC39A3 29985 broad.mit.edu 37 19 2733097 2733097 + Silent SNP G A A TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr19:2733097G>A uc002lwg.2 - 3 851 c.597C>T c.(595-597)AGC>AGT p.S199S SLC39A3_uc010xgy.1_Silent_p.S199S NM_144564 NP_653165 Q9BRY0 S39A3_HUMAN solute carrier family 39 (zinc transporter), 199 Helical; (Potential). integral to membrane|plasma membrane zinc ion transmembrane transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCACGAACAGGCTCACCACTT 0.716 OR2Z1 284383 broad.mit.edu 37 19 8841547 8841547 + Missense_Mutation SNP T C C TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr19:8841547T>C uc010xkg.1 + 1 157 c.157T>C c.(157-159)TCC>CCC p.S53P NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, 53 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 CCGTGTGGACTCCCGGCTCCA 0.542 ZNF844 284391 broad.mit.edu 37 19 12187394 12187394 + Missense_Mutation SNP T C C TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr19:12187394T>C uc002mtb.2 + 4 1602 c.1459T>C c.(1459-1461)TTT>CTT p.F487L ZNF844_uc010dym.1_Missense_Mutation_p.F330L NM_001136501 NP_001129973 Q08AG5 ZN844_HUMAN zinc finger protein 844 487 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GCCTTCATTTTTTCCACTTCC 0.448 CIC 23152 broad.mit.edu 37 19 42795881 42795881 + Frame_Shift_Del DEL C - - TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr19:42795881delC uc002otf.1 + 11 2910 c.2870delC c.(2869-2871)GCCfs p.A957fs NM_015125 NP_055940 Q96RK0 CIC_HUMAN capicua homolog 957 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1) 11 Prostate(69;0.00682) CAGAATGGTGCCCAGCCCCCC 0.602 T DUX4 soft tissue sarcoma GPR4 2828 broad.mit.edu 37 19 46094298 46094298 + Missense_Mutation SNP C T T TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr19:46094298C>T uc002pcm.2 - 2 1772 c.827G>A c.(826-828)AGC>AAC p.S276N OPA3_uc010xxk.1_Intron NM_005282 NP_005273 P46093 GPR4_HUMAN G protein-coupled receptor 4 276 Helical; Name=7; (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) ACAGTTGAGGCTGGTGAAAGC 0.647 GRLF1 2909 broad.mit.edu 37 19 47503900 47503901 + Frame_Shift_Ins INS - C C TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr19:47503900_47503901insC uc010ekv.2 + 6 4455_4456 c.4455_4456insC c.(4453-4458)ATGCAGfs p.M1485fs NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 1485_1486 Pro-rich. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) AGTCCCCAATGCAGCCACTGCT 0.649 ZNF71 58491 broad.mit.edu 37 19 57132720 57132721 + Frame_Shift_Ins INS - G G TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr19:57132720_57132721insG uc002qnm.3 + 3 303_304 c.65_66insG c.(64-66)ACGfs p.T22fs NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 22 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) GGGGAGGCCACGGGGGGACCCA 0.554 ATP6V1C2 245973 broad.mit.edu 37 2 10912727 10912727 + Missense_Mutation SNP G A A TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr2:10912727G>A uc002ras.2 + 8 738 c.629G>A c.(628-630)CGA>CAA p.R210Q ATP6V1C2_uc002rat.2_Missense_Mutation_p.R210Q NM_001039362 NP_001034451 Q8NEY4 VATC2_HUMAN vacuolar H+ ATPase C2 isoform a 210 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) GTGGTCCCTCGATCAACCAAG 0.507 TET3 200424 broad.mit.edu 37 2 74328397 74328397 + Silent SNP C T T TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr2:74328397C>T uc002skb.3 + 9 4077 c.4077C>T c.(4075-4077)CCC>CCT p.P1359P NM_144993 NP_659430 O43151 TET3_HUMAN tet oncogene family member 3 1359 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 GGCTGTTCCCCGGTGAGGGGC 0.657 RANBP2 5903 broad.mit.edu 37 2 109388156 109388156 + Splice_Site SNP G A A TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr2:109388156G>A uc002tem.3 + 21 7976 c.7850_splice c.e21-1 p.A2617_splice NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 TGGTGTTACAGCAAAAGAGAA 0.348 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C T T rs121913500 TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr2:209113112C>T uc002vcs.2 - 4 641 c.395G>A c.(394-396)CGT>CAT p.R132H IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H NM_005896 NP_005887 O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 Substrate. R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|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).|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 -> 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). 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(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1) central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1) 2868 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393 Mis gliobastoma SCLY 51540 broad.mit.edu 37 2 239002554 239002554 + Missense_Mutation SNP A T T TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr2:239002554A>T uc010fyv.2 + 9 1038 c.974A>T c.(973-975)GAC>GTC p.D325V SCLY_uc002vxm.3_Missense_Mutation_p.D292V|SCLY_uc002vxn.2_3'UTR|SCLY_uc010znq.1_Missense_Mutation_p.D119V|SCLY_uc010znr.1_Missense_Mutation_p.D231V|SCLY_uc002vxp.3_5'Flank NM_016510 NP_057594 Q96I15 SCLY_HUMAN selenocysteine lyase 325 cellular amino acid metabolic process cytosol pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity ovary(2) 2 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285) CACATGAGGGACGTCCGCGAC 0.622 SPTLC3 55304 broad.mit.edu 37 20 13052999 13052999 + Silent SNP C G G TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr20:13052999C>G uc002wod.1 + 3 688 c.399C>G c.(397-399)GCC>GCG p.A133A NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base 133 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups 0 Pyridoxal Phosphate(DB00114) TCTGCAGTGCCCCAGGGCCTC 0.438 ZNF831 128611 broad.mit.edu 37 20 57829379 57829379 + Missense_Mutation SNP G A A TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr20:57829379G>A uc002yan.2 + 5 4615 c.4615G>A c.(4615-4617)GCA>ACA p.A1539T NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1539 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) AGAGGGCAGAGCACAGACCCT 0.498 STAB1 23166 broad.mit.edu 37 3 52536060 52536060 + Missense_Mutation SNP G A A TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr3:52536060G>A uc003dej.2 + 4 444 c.370G>A c.(370-372)GGG>AGG p.G124R STAB1_uc003dei.1_Missense_Mutation_p.G124R NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 124 EGF-like 1.|Extracellular (Potential). cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CAATGGCCACGGGACCTGCTT 0.637 MINA 84864 broad.mit.edu 37 3 97664110 97664110 + Missense_Mutation SNP T C C TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr3:97664110T>C uc003drz.1 - 10 1822 c.1316A>G c.(1315-1317)AAG>AGG p.K439R MINA_uc003dry.1_Missense_Mutation_p.K110R|MINA_uc003dsa.1_Missense_Mutation_p.K438R|MINA_uc003dsb.1_Missense_Mutation_p.K439R|MINA_uc003dsc.1_Missense_Mutation_p.K438R NM_001042533 NP_001035998 Q8IUF8 MINA_HUMAN MYC induced nuclear antigen isoform a 439 ribosome biogenesis cytoplasm|nucleolus ovary(1) 1 TTTCAGGTCCTTGACAGAAAT 0.383 EAF2 55840 broad.mit.edu 37 3 121554141 121554141 + Missense_Mutation SNP C A A TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr3:121554141C>A uc003een.2 + 1 108 c.9C>A c.(7-9)AGC>AGA p.S3R IQCB1_uc010hre.1_5'Flank|IQCB1_uc003eek.2_5'Flank|IQCB1_uc010hrf.1_5'Flank|EAF2_uc003eem.2_RNA|EAF2_uc003eeo.2_5'UTR NM_018456 NP_060926 Q96CJ1 EAF2_HUMAN ELL associated factor 2 3 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein binding 0 GBM - Glioblastoma multiforme(114;0.0972) TTATGAATAGCGCAGCGGGAT 0.572 CLSTN2 64084 broad.mit.edu 37 3 140281698 140281698 + Missense_Mutation SNP G A A TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr3:140281698G>A uc003etn.2 + 14 2448 c.2258G>A c.(2257-2259)CGC>CAC p.R753H NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 753 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 CATCACATCCGCTACCGCAAC 0.552 HNSCC(16;0.037) LRRIQ4 344657 broad.mit.edu 37 3 169555374 169555374 + Silent SNP A G G TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr3:169555374A>G uc003fgb.2 + 5 1638 c.1638A>G c.(1636-1638)GGA>GGG p.G546G NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 546 0 ATAAGAAAGGAAAGAAGGATG 0.363 SLC7A14 57709 broad.mit.edu 37 3 170219101 170219101 + Missense_Mutation SNP G A A TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr3:170219101G>A uc003fgz.2 - 3 654 c.338C>T c.(337-339)CCC>CTC p.P113L CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 113 integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) TGTGGTCTTGGGGACTCGAAC 0.507 CSF2 1437 broad.mit.edu 37 5 131409784 131409784 + Missense_Mutation SNP T C C TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr5:131409784T>C uc003kwf.2 + 2 202 c.170T>C c.(169-171)GTA>GCA p.V57A NM_000758 NP_000749 P04141 CSF2_HUMAN colony stimulating factor 2 precursor 57 immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein extracellular space cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity 0 all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Sargramostim(DB00020) AATGAAACAGTAGAAGTCATC 0.517 PDE6A 5145 broad.mit.edu 37 5 149323959 149323959 + Missense_Mutation SNP C T T TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr5:149323959C>T uc003lrg.3 - 1 398 c.278G>A c.(277-279)CGC>CAC p.R93H NM_000440 NP_000431 P16499 PDE6A_HUMAN phosphodiesterase 6A 93 GAF 1. cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CAGGCTCATGCGGTCTGCCTG 0.522 SOX30 11063 broad.mit.edu 37 5 157065654 157065654 + Silent SNP G A A TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr5:157065654G>A uc003lxb.1 - 4 1806 c.1464C>T c.(1462-1464)AGC>AGT p.S488S SOX30_uc003lxc.1_Intron|SOX30_uc011dds.1_Silent_p.S183S NM_178424 NP_848511 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 isoform a 488 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus|nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity ovary(1)|central_nervous_system(1) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CACTGGAGACGCTGGGCTGGA 0.532 GMCL1L 64396 broad.mit.edu 37 5 177612831 177612831 + Missense_Mutation SNP G T T TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr5:177612831G>T uc003mit.1 - 1 1603 c.1470C>A c.(1468-1470)AAC>AAA p.N490K NR_003281 SubName: Full=Germ cell-less homolog 1 (Drosophila); SubName: Full=Putative uncharacterized protein FLJ13057; 0 TGCTGTCCAAGTTCATCACCA 0.358 FARS2 10667 broad.mit.edu 37 6 5613545 5613545 + Silent SNP A T T rs147628137 TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr6:5613545A>T uc010jnv.1 + 6 1545 c.1209A>T c.(1207-1209)GTA>GTT p.V403V FARS2_uc003mwr.2_Silent_p.V403V NM_006567 NP_006558 O95363 SYFM_HUMAN phenylalanyl-tRNA synthetase 2 precursor 403 FDX-ACB. phenylalanyl-tRNA aminoacylation|tRNA processing mitochondrial matrix|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding 0 Ovarian(93;0.11) all_hematologic(90;0.0104) L-Phenylalanine(DB00120) ACAAGTTTGTACATCCAAAGT 0.393 MDC1 9656 broad.mit.edu 37 6 30680501 30680501 + Silent SNP G A A TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr6:30680501G>A uc003nrg.3 - 5 1658 c.1218C>T c.(1216-1218)GAC>GAT p.D406D MDC1_uc003nrf.3_Silent_p.D60D|MDC1_uc011dmp.1_Silent_p.D278D|MDC1_uc003nrh.1_Silent_p.D278D|MDC1_uc003nri.2_Silent_p.D406D NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 406 Required for nuclear localization (NLS1). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 CTTCTTCCTCGTCATCTGTAT 0.522 Other_conserved_DNA_damage_response_genes LTA 4049 broad.mit.edu 37 6 31540609 31540609 + Silent SNP T C C TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr6:31540609T>C uc011dnu.1 + 2 303 c.90T>C c.(88-90)CCT>CCC p.P30P LTA_uc003nue.1_Silent_p.P30P|LTA_uc003nuf.2_5'Flank|LTA_uc003nuh.2_5'Flank|LTA_uc003nug.2_5'Flank|LTA_uc010jsr.2_5'Flank|TNF_uc003nui.2_5'Flank NM_001159740 NP_001153212 P01374 TNFB_HUMAN lymphotoxin alpha precursor 30 cell-cell signaling|induction of apoptosis|signal transduction extracellular space|membrane cytokine activity|tumor necrosis factor receptor binding 0 Etanercept(DB00005) TTCTGCTGCCTGGGGCCCAGG 0.632 GRM4 2914 broad.mit.edu 37 6 34003985 34003985 + Silent SNP G A A TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr6:34003985G>A uc003oir.3 - 8 2072 c.1902C>T c.(1900-1902)TTC>TTT p.F634F GRM4_uc011dsn.1_Silent_p.F587F|GRM4_uc010jvh.2_Silent_p.F634F|GRM4_uc010jvi.2_Silent_p.F326F|GRM4_uc003oio.2_Silent_p.F326F|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.F494F|GRM4_uc003oiq.2_Silent_p.F501F|GRM4_uc011dsm.1_Silent_p.F465F NM_000841 NP_000832 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 precursor 634 Helical; Name=2; (Potential). activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 6 L-Glutamic Acid(DB00142) CATAGCACAGGAAGATGCCTG 0.592 LAMA2 3908 broad.mit.edu 37 6 129663557 129663557 + Nonsense_Mutation SNP G T T TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr6:129663557G>T uc003qbn.2 + 30 4486 c.4381G>T c.(4381-4383)GGA>TGA p.G1461* LAMA2_uc003qbo.2_Nonsense_Mutation_p.G1461* NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1461 Laminin EGF-like 15. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AATTGTCAAGGGATTGCCAAA 0.403 HIVEP2 3097 broad.mit.edu 37 6 143093267 143093267 + Missense_Mutation SNP T C C TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr6:143093267T>C uc003qjd.2 - 5 3352 c.2609A>G c.(2608-2610)CAG>CGG p.Q870R NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 870 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) GGACTGCTGCTGCACCTGCTG 0.557 ARID1B 57492 broad.mit.edu 37 6 157488293 157488293 + Missense_Mutation SNP C T T TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr6:157488293C>T uc003qqn.2 + 9 2938 c.2786C>T c.(2785-2787)GCG>GTG p.A929V ARID1B_uc003qqo.2_Missense_Mutation_p.A942V|ARID1B_uc003qqp.2_Missense_Mutation_p.A929V|ARID1B_uc010kjl.2_Missense_Mutation_p.A127V NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 987 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) TACAGCATGGCGCCCGCCATG 0.597 ITGB8 3696 broad.mit.edu 37 7 20420296 20420296 + Missense_Mutation SNP A G G TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr7:20420296A>G uc003suu.2 + 5 1348 c.643A>G c.(643-645)AAT>GAT p.N215D ITGB8_uc011jyh.1_Missense_Mutation_p.N80D|ITGB8_uc003sut.2_Missense_Mutation_p.N215D NM_002214 NP_002205 P26012 ITB8_HUMAN integrin, beta 8 precursor 215 VWFA.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity skin(3) 3 CAGTGACTACAATTTAGACTG 0.388 MTERF 7978 broad.mit.edu 37 7 91503603 91503603 + Missense_Mutation SNP G A A rs148973867 TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr7:91503603G>A uc003ulb.1 - 2 549 c.505C>T c.(505-507)CGG>TGG p.R169W MTERF_uc010let.1_Intron|MTERF_uc003ulc.1_Missense_Mutation_p.R169W|MTERF_uc011khm.1_Missense_Mutation_p.R149W|MTERF_uc010leu.1_Missense_Mutation_p.R149W NM_006980 NP_008911 Q99551 MTERF_HUMAN mitochondrial transcription termination factor 169 Interaction with DNA. R->A: Strongly reduces affinity for DNA. Strongly reduces transcription termination. DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription mitochondrial nucleoid double-stranded DNA binding 0 all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176) TTATTGGACCGAAAAAAGGAT 0.398 ORC5L 5001 broad.mit.edu 37 7 103835638 103835638 + Missense_Mutation SNP G T T TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr7:103835638G>T uc003vcb.2 - 5 617 c.506C>A c.(505-507)ACT>AAT p.T169N ORC5L_uc011klp.1_Missense_Mutation_p.T37N|ORC5L_uc003vcc.2_Missense_Mutation_p.T169N|ORC5L_uc003vcd.2_Missense_Mutation_p.T169N NM_002553 NP_002544 O43913 ORC5_HUMAN origin recognition complex subunit 5 isoform 1 169 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle cytoplasm|nuclear origin of replication recognition complex|nucleoplasm ATP binding|DNA replication origin binding|identical protein binding 0 AAAGCATCCAGTATTTGGACG 0.343 STAR 6770 broad.mit.edu 37 8 38005844 38005844 + Silent SNP A G G TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr8:38005844A>G uc003xkv.1 - 3 444 c.180T>C c.(178-180)GGT>GGC p.G60G STAR_uc010lwc.1_Silent_p.G22G NM_001007243 NP_001007244 P49675 STAR_HUMAN steroidogenic acute regulatory protein isoform 60 C21-steroid hormone biosynthetic process mitochondrial intermembrane space cholesterol transporter activity ovary(1) 1 Colorectal(12;0.000442) all_lung(54;0.0151)|Lung NSC(58;0.0295) READ - Rectum adenocarcinoma(644;0.188) CTAGCCGAGAACCTGGATACA 0.577 GDF6 392255 broad.mit.edu 37 8 97157751 97157751 + Missense_Mutation SNP G C C TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr8:97157751G>C uc003yhp.2 - 2 508 c.408C>G c.(406-408)GAC>GAG p.D136E NM_001001557 NP_001001557 Q6KF10 GDF6_HUMAN growth differentiation factor 6 precursor 136 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(1)|breast(1)|pancreas(1) 3 Breast(36;2.67e-05) GCGAGAGATCGTCTGCGAGAT 0.557 IFNW1 3467 broad.mit.edu 37 9 21141019 21141019 + Missense_Mutation SNP C G G TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr9:21141019C>G uc003zol.1 - 1 1126 c.551G>C c.(550-552)AGA>ACA p.R184T NM_002177 NP_002168 P05000 IFNW1_HUMAN interferon, omega 1 precursor 184 cell cycle arrest|defense response|response to virus extracellular space cytokine activity|cytokine receptor binding 0 GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) ACTTCTCAGTCTTTCTTGCAT 0.383 IFNW1 3467 broad.mit.edu 37 9 21141108 21141108 + Silent SNP C G G TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr9:21141108C>G uc003zol.1 - 1 1037 c.462G>C c.(460-462)CTG>CTC p.L154L NM_002177 NP_002168 P05000 IFNW1_HUMAN interferon, omega 1 precursor 154 cell cycle arrest|defense response|response to virus extracellular space cytokine activity|cytokine receptor binding 0 GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) TCTTCTCTTTCAGGTAGACAC 0.473 TMEM2 23670 broad.mit.edu 37 9 74324239 74324239 + Missense_Mutation SNP C T T rs147272925 byFrequency TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr9:74324239C>T uc011lsa.1 - 17 3461 c.2921G>A c.(2920-2922)CGC>CAC p.R974H TMEM2_uc010mos.2_Missense_Mutation_p.R911H|TMEM2_uc011lsb.1_RNA NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 isoform a 974 integral to membrane ovary(2) 2 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) GCTTGGATGGCGGATCAGGTA 0.448 ZNF618 114991 broad.mit.edu 37 9 116811982 116811982 + Silent SNP G T T TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr9:116811982G>T uc004bid.2 + 15 2499 c.2400G>T c.(2398-2400)CCG>CCT p.P800P ZNF618_uc004bic.2_Silent_p.P707P|ZNF618_uc011lxi.1_Silent_p.P767P|ZNF618_uc011lxj.1_Silent_p.P768P|ZNF618_uc010mvb.2_Silent_p.P390P NM_133374 NP_588615 Q5T7W0 ZN618_HUMAN zinc finger protein 618 800 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGGTGCACCCGGCCCACAAGG 0.612 DEC1 50514 broad.mit.edu 37 9 118162691 118162691 + Missense_Mutation SNP C G G TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr9:118162691C>G uc004bjk.1 + 6 586 c.67C>G c.(67-69)CTT>GTT p.L23V DEC1_uc004bjl.1_Intron NM_017418 NP_059114 Q9P2X7 DEC1_HUMAN deleted in esophageal cancer 1 23 negative regulation of cell proliferation ovary(1) 1 tgagggccttcttgccgtgtt 0.000 ASTN2 23245 broad.mit.edu 37 9 119204775 119204775 + Silent SNP G T T TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr9:119204775G>T uc004bjs.1 - 21 3656 c.3555C>A c.(3553-3555)ACC>ACA p.T1185T ASTN2_uc004bjr.1_Silent_p.T1181T|ASTN2_uc004bjt.1_Silent_p.T1134T|ASTN2_uc004bjp.1_Silent_p.T278T|ASTN2_uc004bjq.1_Silent_p.T237T|ASTN2_uc011lxr.1_Silent_p.T237T|ASTN2_uc011lxs.1_Silent_p.T237T|ASTN2_uc011lxt.1_Silent_p.T237T|ASTN2_uc004bjo.1_5'UTR NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 1185 Extracellular (Potential).|Fibronectin type-III. integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 CCGTCCTCAGGGTCACCGTGC 0.512 GLT6D1 360203 broad.mit.edu 37 9 138517954 138517954 + Missense_Mutation SNP C T T TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chr9:138517954C>T uc010nbd.1 - 4 472 c.218G>A c.(217-219)CGG>CAG p.R73Q NM_182974 NP_892019 Q7Z4J2 GL6D1_HUMAN glycosyltransferase 6 domain containing 1 73 Lumenal (Potential). carbohydrate metabolic process integral to membrane transferase activity, transferring hexosyl groups ovary(1) 1 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05) AGTGATATTCCGCCTTCTGTA 0.498 MAGEB16 139604 broad.mit.edu 37 X 35820799 35820799 + Silent SNP A G G TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chrX:35820799A>G uc010ngt.1 + 2 765 c.486A>G c.(484-486)CTA>CTG p.L162L NM_001099921 NP_001093391 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 162 MAGE. lung(3)|ovary(2)|breast(1)|skin(1) 7 CTGAGCACCTAGAGATGATAT 0.468 WDR13 64743 broad.mit.edu 37 X 48458765 48458765 + Silent SNP C T T TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chrX:48458765C>T uc004dkh.1 + 6 729 c.582C>T c.(580-582)GAC>GAT p.D194D WDR13_uc010nif.1_Silent_p.D72D|WDR13_uc004dki.1_Silent_p.D102D|WDR13_uc004dkj.1_Silent_p.D194D|WDR13_uc004dkk.1_Silent_p.D102D|WDR13_uc004dkl.3_Silent_p.D102D|WDR13_uc011mme.1_Silent_p.D72D NM_017883 NP_060353 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 protein 194 WD 1. cytoplasm|nucleus ovary(2) 2 GCTCACTCGACGGCAGCATCT 0.632 ATRX 546 broad.mit.edu 37 X 76875916 76875916 + Nonsense_Mutation SNP G C C TCGA-27-2521-01A-01D-1494-08 TCGA-27-2521-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 3678d5f3-9a29-4750-b0a9-20e971ff6aa4 04c01b52-cf2f-4432-a541-c20085c3db62 g.chrX:76875916G>C uc004ecp.3 - 20 5451 c.5219C>G c.(5218-5220)TCA>TGA p.S1740* ATRX_uc004ecq.3_Nonsense_Mutation_p.S1702*|ATRX_uc004eco.3_Nonsense_Mutation_p.S1525* NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1740 Helicase ATP-binding. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) CCTCCTCCTTGATCGTATAGA 0.333 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome