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_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut PRAMEF11 440560 broad.mit.edu 37 1 12887606 12887606 + Missense_Mutation SNP C C G rs58074988 TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr1:12887606C>G uc001auk.2 - 3 447 c.251G>C c.(250-252)TGC>TCC p.C84S NM_001146344 NP_001139816 O60813 PRA11_HUMAN PRAME family member 11 84 0 ATTGAGGAAGCACCCATGGGC 0.483 NA 6 194 0 0 0 0 C1orf89 79363 broad.mit.edu 37 1 16559457 16559457 + Silent SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr1:16559457G>A uc001ayd.2 - 3 743 c.321C>T c.(319-321)GTC>GTT p.V107V NM_030907 NP_112169 Q9BU20 RSG1_HUMAN hypothetical protein LOC79363 107 Small GTPase-like. cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction cilium|microtubule basal body GTP binding 0 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.2e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649) GAAACATGACGACACGGCTGC 0.577 NA 22 58 0 0 0 0 AKR7L 246181 broad.mit.edu 37 1 19596120 19596120 + Silent SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr1:19596120G>A uc010ocx.1 - 5 561 c.561C>T c.(559-561)CTC>CTT p.L187L AKR7L_uc010ocy.1_Intron NM_201252 NP_957704 aflatoxin B1 aldehyde reductase 3 isoform 1 0 CAAAGTGCCTGAGGCAGGGGA 0.602 NA 20 42 0 0 0 0 MAP3K6 9064 broad.mit.edu 37 1 27682188 27682188 + Nonsense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr1:27682188G>A uc001bny.1 - 28 4009 c.3760C>T c.(3760-3762)CGA>TGA p.R1254* MAP3K6_uc009vsw.1_Nonsense_Mutation_p.R1246* NM_004672 NP_004663 O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 1254 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|lung(3)|ovary(1)|central_nervous_system(1) 9 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) AGGTCATCTCGAGTGGCATAG 0.512 NA 9 71 0 0 0 0 MACF1 23499 broad.mit.edu 37 1 39812685 39812685 + Missense_Mutation SNP C C A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr1:39812685C>A uc010oiu.1 + 5 6069 c.5938C>A c.(5938-5940)CTG>ATG p.L1980M MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 3545 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) GAAAGCTCAGCTGGATGCTCT 0.413 NA 14 36 9.31e-06 9.82e-06 1 0 YBX1 4904 broad.mit.edu 37 1 43166568 43166568 + Missense_Mutation SNP A A G TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr1:43166568A>G uc001chs.2 + 7 1028 c.857A>G c.(856-858)AAT>AGT p.N286S NM_004559 NP_004550 P67809 YBOX1_HUMAN nuclease sensitive element binding protein 1 286 CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding ovary(4)|upper_aerodigestive_tract(1) 5 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CGCAACTTCAATTACCGACGC 0.527 NA 12 33 0 0 0 0 TDRD10 126668 broad.mit.edu 37 1 154516537 154516537 + Missense_Mutation SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr1:154516537C>T uc009wow.2 + 9 1440 c.602C>T c.(601-603)ACG>ATG p.T201M TDRD10_uc001ffd.2_Missense_Mutation_p.T201M|TDRD10_uc001ffe.2_Missense_Mutation_p.T122M NM_001098475 NP_001091945 Q5VZ19 TDR10_HUMAN tudor domain containing 10 isoform a 201 nucleotide binding|RNA binding ovary(1) 1 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) CTGCTGGTGACGAGTATCGTC 0.622 NA 25 48 0 0 0 0 CCNJ 54619 broad.mit.edu 37 10 97817643 97817643 + Missense_Mutation SNP A A G TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr10:97817643A>G uc001klm.2 + 6 1123 c.764A>G c.(763-765)CAG>CGG p.Q255R uc001klg.1_Intron|uc001klj.1_Intron|uc009xvb.1_Intron|CCNJ_uc010qoq.1_Missense_Mutation_p.Q266R|CCNJ_uc001kln.2_Missense_Mutation_p.Q254R NM_019084 NP_061957 Q5T5M9 CCNJ_HUMAN cyclin J isoform 2 255 nucleus ovary(1) 1 Epithelial(162;6.1e-08)|all cancers(201;2.32e-06) GCAGGACCTCAGTCAGCGCAA 0.468 NA 31 17 0 0 0 0 HRAS 3265 broad.mit.edu 37 11 534285 534285 + Missense_Mutation SNP C C A rs104894226 TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr11:534285C>A uc001lpv.2 - 2 226 c.38G>T c.(37-39)GGT>GTT p.G13V HRAS_uc010qvw.1_Missense_Mutation_p.G13V|HRAS_uc010qvx.1_Missense_Mutation_p.G13V|HRAS_uc010qvy.1_RNA NM_005343 NP_005334 P01112 RASH_HUMAN v-Ha-ras Harvey rat sarcoma viral oncogene 13 GTP. G -> D (in FCSS).|G -> C (in FCSS). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G13R(33)|p.G13V(10)|p.G13D(9)|p.G13S(9)|p.G13C(6)|p.G13G(1)|p.G12_G13insAG(1) urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1) 749 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) CTTGCCCACACCGCCGGCGCC 0.642 6 Mis infrequent sarcomas|rare other types rhadomyosarcoma|ganglioneuroblastoma|bladder Costello_syndrome HNSCC(11;0.0054) 21 12 1.98e-07 2.12e-07 1 0 HRAS 3265 broad.mit.edu 37 11 534291 534291 + Missense_Mutation SNP G G T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr11:534291G>T uc001lpv.2 - 2 220 c.32C>A c.(31-33)GCC>GAC p.A11D HRAS_uc010qvw.1_Missense_Mutation_p.A11D|HRAS_uc010qvx.1_Missense_Mutation_p.A11D|HRAS_uc010qvy.1_RNA NM_005343 NP_005334 P01112 RASH_HUMAN v-Ha-ras Harvey rat sarcoma viral oncogene 11 GTP. activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.A11A(2)|p.G10_A11insG(1)|p.A11S(1) urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1) 749 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) CACACCGCCGGCGCCCACCAC 0.652 6 Mis infrequent sarcomas|rare other types rhadomyosarcoma|ganglioneuroblastoma|bladder Costello_syndrome HNSCC(11;0.0054) 19 11 3.99e-14 4.53e-14 1 0 DNHD1 144132 broad.mit.edu 37 11 6593070 6593070 + Missense_Mutation SNP T T A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr11:6593070T>A uc001mdw.3 + 43 14680 c.14116T>A c.(14116-14118)TCG>ACG p.S4706T DNHD1_uc001mea.3_Missense_Mutation_p.S975T|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.2_Missense_Mutation_p.S974T|DNHD1_uc010rao.1_Missense_Mutation_p.S964T|DNHD1_uc009yfg.2_Missense_Mutation_p.S331T NM_144666 NP_653267 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 isoform 1 4706 microtubule-based movement dynein complex microtubule motor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GACTGTGTACTCGTGTCCTGT 0.627 NA 13 54 0 0 0 0 ANO5 203859 broad.mit.edu 37 11 22276979 22276979 + Missense_Mutation SNP G G C TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr11:22276979G>C uc001mqi.2 + 13 1560 c.1243G>C c.(1243-1245)GTG>CTG p.V415L ANO5_uc001mqj.2_Missense_Mutation_p.V414L NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 415 Cytoplasmic (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 ATGGGACCTGGTGGACTTTGA 0.358 NA 52 82 0 0 0 0 MARK2 2011 broad.mit.edu 37 11 63668102 63668102 + Silent SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr11:63668102G>A uc001nxw.2 + 9 1419 c.840G>A c.(838-840)CTG>CTA p.L280L MARK2_uc001nxx.2_Silent_p.L280L|MARK2_uc001nxy.2_Silent_p.L280L|MARK2_uc001nxv.3_Silent_p.L280L|MARK2_uc001nxz.3_Silent_p.L247L|MARK2_uc009yoy.2_Silent_p.L247L NM_001039469 NP_001034558 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 280 Protein kinase. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 GTGAAAACCTGCTTAAGAAAT 0.507 NA 97 180 0 0 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826253 43826253 + Missense_Mutation SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr12:43826253C>T uc010skx.1 - 21 2950 c.2950G>A c.(2950-2952)GGA>AGA p.G984R ADAMTS20_uc001rno.1_Missense_Mutation_p.G138R|ADAMTS20_uc001rnp.1_Missense_Mutation_p.G138R NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 984 TSP type-1 4. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CTTTCCCCTCCTCCACAACTC 0.368 NA 18 35 0 0 0 0 LRP1 4035 broad.mit.edu 37 12 57601972 57601972 + Missense_Mutation SNP A A G TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr12:57601972A>G uc001snd.2 + 77 12477 c.12011A>G c.(12010-12012)CAC>CGC p.H4004R NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 4004 LDL-receptor class B 32.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GACGAGCCCCACGCCATTGTG 0.657 NA 7 12 0 0 0 0 PAN3 255967 broad.mit.edu 37 13 28771372 28771372 + Silent SNP A A T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr13:28771372A>T uc001urz.2 + 4 311 c.303A>T c.(301-303)GGA>GGT p.G101G PAN3_uc010tdo.1_Silent_p.G247G|PAN3_uc001ury.2_5'UTR|PAN3_uc001urx.2_Intron NM_175854 NP_787050 Q58A45 PAN3_HUMAN PABP1-dependent poly A-specific ribonuclease 247 Interaction with polyadenylate-binding protein. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity ovary(1) 1 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) TTCCGATGGGATCAAAGGCAC 0.493 NA 5 7 0 0 0 0 DNAJC15 29103 broad.mit.edu 37 13 43597852 43597852 + Silent SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr13:43597852C>T uc001uyy.2 + 1 491 c.90C>T c.(88-90)GAC>GAT p.D30D NM_013238 NP_037370 Q9Y5T4 DJC15_HUMAN DNAJ domain-containing 30 integral to membrane heat shock protein binding 0 Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737) CAGACGCCGACGTCGACCAGC 0.642 NA 4 9 0 0 0 0 ATP4B 496 broad.mit.edu 37 13 114304774 114304774 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr13:114304774G>A uc001vtz.2 - 6 703 c.661C>T c.(661-663)CCC>TCC p.P221S NM_000705 NP_000696 P51164 ATP4B_HUMAN hydrogen/potassium-exchanging ATPase 4B 221 Extracellular (Potential). ATP biosynthetic process integral to membrane|plasma membrane hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity ovary(1) 1 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.171) Rabeprazole(DB01129) GTGCCGTTGGGAGGGTAGTAC 0.622 NA 24 37 0 0 0 0 TPPP2 122664 broad.mit.edu 37 14 21499180 21499180 + Silent SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr14:21499180C>T uc001vzh.2 + 3 371 c.183C>T c.(181-183)AAC>AAT p.N61N NDRG2_uc010tll.1_Intron NM_173846 NP_776245 P59282 TPPP2_HUMAN tubulin polymerization-promoting protein family 61 cytoplasm 0 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) GGGCCAAGAACGCCCGAACCA 0.483 NA 12 23 0 0 0 0 TINF2 26277 broad.mit.edu 37 14 24709835 24709835 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr14:24709835G>A uc001woa.3 - 6 1193 c.851C>T c.(850-852)ACA>ATA p.T284I TINF2_uc010alm.2_Missense_Mutation_p.T108I|TINF2_uc001wob.3_Missense_Mutation_p.T284I|TINF2_uc010tof.1_Missense_Mutation_p.T249I|TINF2_uc001woc.3_3'UTR NM_001099274 NP_001092744 Q9BSI4 TINF2_HUMAN TERF1 (TRF1)-interacting nuclear factor 2 284 negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter protein binding|protein binding|telomeric DNA binding 0 GBM - Glioblastoma multiforme(265;0.0185) CAGCATGACTGTGGGGCGCTC 0.552 NA Ataxia_Pancytopenia_syndrome|Congenital_Dyskeratosis 17 28 0 0 0 0 TP53BP1 7158 broad.mit.edu 37 15 43720231 43720231 + Missense_Mutation SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr15:43720231C>T uc001zrs.2 - 18 3944 c.3796G>A c.(3796-3798)GAA>AAA p.E1266K TP53BP1_uc010udp.1_Missense_Mutation_p.E1266K|TP53BP1_uc001zrq.3_Missense_Mutation_p.E1271K|TP53BP1_uc001zrr.3_Missense_Mutation_p.E1271K|TP53BP1_uc010udq.1_Missense_Mutation_p.E1271K NM_005657 NP_005648 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 isoform 3 1266 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1) 7 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) ACTTTTCTTTCTACTTCTGTT 0.308 NA Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 39 90 0 0 0 0 SEC11A 23478 broad.mit.edu 37 15 85230875 85230875 + Missense_Mutation SNP C C G TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr15:85230875C>G uc002blb.1 - 3 660 c.292G>C c.(292-294)GTC>CTC p.V98L SEC11A_uc002blc.1_Missense_Mutation_p.V72L NM_014300 NP_055115 P67812 SC11A_HUMAN SEC11-like 1 98 Lumenal (Potential). energy reserve metabolic process|regulation of insulin secretion|signal peptide processing endoplasmic reticulum membrane|integral to membrane|microsome protein binding|serine-type peptidase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(143;0.199) ATCTTCAAGACTCGGTGAACT 0.343 NA 21 75 0 0 0 0 CACNA1H 8912 broad.mit.edu 37 16 1265063 1265063 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr16:1265063G>A uc002cks.2 + 28 5269 c.5021G>A c.(5020-5022)CGT>CAT p.R1674H CACNA1H_uc002ckt.2_Missense_Mutation_p.R1668H|CACNA1H_uc002cku.2_Missense_Mutation_p.R380H|CACNA1H_uc010brj.2_Missense_Mutation_p.R385H|CACNA1H_uc002ckv.2_Missense_Mutation_p.R374H NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, 1674 IV.|Cytoplasmic (Potential). aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(2) 2 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) TTTGGGTTCCGTCGGTTCTTC 0.622 NA 7 10 0 0 0 0 TBC1D24 57465 broad.mit.edu 37 16 2546268 2546268 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr16:2546268G>A uc002cql.2 + 2 259 c.119G>A c.(118-120)CGC>CAC p.R40H TBC1D24_uc002cqk.2_Missense_Mutation_p.R40H|TBC1D24_uc002cqm.2_Missense_Mutation_p.R40H|TBC1D24_uc010bsm.2_5'Flank NM_020705 NP_065756 Q9ULP9 TBC24_HUMAN TBC1 domain family, member 24 40 neuron projection development cytoplasm protein binding|Rab GTPase activator activity 0 CAGCTGGCGCGCCAGGGCTAC 0.642 NA 13 31 0 0 0 0 GRIN2A 2903 broad.mit.edu 37 16 9943686 9943686 + Missense_Mutation SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr16:9943686C>T uc002czo.3 - 5 1803 c.1255G>A c.(1255-1257)GTG>ATG p.V419M GRIN2A_uc010uym.1_Missense_Mutation_p.V419M|GRIN2A_uc010uyn.1_Missense_Mutation_p.V262M|GRIN2A_uc002czr.3_Missense_Mutation_p.V419M NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 419 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATGTCTTCCACGATGACGAAT 0.572 NA 24 45 0 0 0 0 ZFHX3 463 broad.mit.edu 37 16 72993515 72993515 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr16:72993515G>A uc002fck.2 - 2 1203 c.530C>T c.(529-531)GCG>GTG p.A177V ZFHX3_uc002fcl.2_Intron NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 177 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) CTTGCCCCCCGCGCCAGGGAG 0.637 NA 12 44 0 0 0 0 NEK8 284086 broad.mit.edu 37 17 27067575 27067575 + Missense_Mutation SNP C C G TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr17:27067575C>G uc002hcp.2 + 11 1512 c.1512C>G c.(1510-1512)ATC>ATG p.I504M NM_178170 NP_835464 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 504 RCC1 3. cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1) 6 Lung NSC(42;0.0158) TATGTGGTATCGATTCCTCCA 0.587 NA 28 43 0 0 0 0 NF1 4763 broad.mit.edu 37 17 29657375 29657375 + Nonsense_Mutation SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr17:29657375C>T uc002hgg.2 + 39 6004 c.5671C>T c.(5671-5673)CAG>TAG p.Q1891* NF1_uc002hgh.2_Nonsense_Mutation_p.Q1870*|NF1_uc002hgi.1_Nonsense_Mutation_p.Q903*|NF1_uc010cso.2_Nonsense_Mutation_p.Q79* NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 1891 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AATCGAGGGCCAGTTACTAGA 0.398 NA D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 5 69 0 0 0 0 NPEPPS 9520 broad.mit.edu 37 17 45663002 45663002 + Missense_Mutation SNP A A G TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr17:45663002A>G uc002ilr.3 + 6 1008 c.785A>G c.(784-786)GAT>GGT p.D262G NPEPPS_uc010wkt.1_Missense_Mutation_p.D258G|NPEPPS_uc010wku.1_Missense_Mutation_p.D226G|NPEPPS_uc010dba.1_Missense_Mutation_p.D107G|NPEPPS_uc010wkv.1_5'Flank NM_006310 NP_006301 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 262 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding 0 AGGTCAAAAGATGGTGTGTGT 0.418 NA 45 101 0 0 0 0 USP32 84669 broad.mit.edu 37 17 58257980 58257980 + Missense_Mutation SNP C C T rs17405746 TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr17:58257980C>T uc002iyo.1 - 33 4853 c.4567G>A c.(4567-4569)GGT>AGT p.G1523S USP32_uc002iyn.1_Missense_Mutation_p.G1193S NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN ubiquitin specific protease 32 1523 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|breast(2)|large_intestine(1) 5 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) TGGCCCCCACCCAGAATTCCT 0.443 NA 12 22 0 0 0 0 NEDD4L 23327 broad.mit.edu 37 18 55711935 55711935 + Missense_Mutation SNP G G A rs12968145 TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr18:55711935G>A uc002lgy.2 + 1 317 c.43G>A c.(43-45)GAC>AAC p.D15N NEDD4L_uc002lgz.2_Missense_Mutation_p.D15N|NEDD4L_uc002lgx.2_Missense_Mutation_p.D15N|NEDD4L_uc010xee.1_5'Flank|NEDD4L_uc002lha.1_5'Flank NM_001144967 NP_001138439 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally 15 C2. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity lung(4) 4 ACTTTCCGAAGACGAGGTGAG 0.741 NA 5 23 0 0 0 0 ZNF461 92283 broad.mit.edu 37 19 37130912 37130912 + Missense_Mutation SNP G G T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr19:37130912G>T uc002oem.2 - 6 563 c.335C>A c.(334-336)TCT>TAT p.S112Y ZNF461_uc002oen.2_Missense_Mutation_p.S81Y|ZNF461_uc010xtj.1_Missense_Mutation_p.S89Y NM_153257 NP_694989 Q8TAF7 ZN461_HUMAN gonadotropin inducible transcription repressor 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) CCTTTTTGGAGATAACTTCTG 0.348 NA 12 85 2.27e-07 2.42e-07 1 0 SNRPA 6626 broad.mit.edu 37 19 41268965 41268965 + Missense_Mutation SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr19:41268965C>T uc002ooz.2 + 4 1121 c.586C>T c.(586-588)CCC>TCC p.P196S SNRPA_uc002opa.2_Missense_Mutation_p.P146S NM_004596 NP_004587 P09012 SNRPA_HUMAN small nuclear ribonucleoprotein polypeptide A 196 Pro-rich. nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding skin(2)|ovary(1)|central_nervous_system(1) 4 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) AGGACAGATGCCCCCTGCCCA 0.607 NA 12 42 0 0 0 0 GRIK5 2901 broad.mit.edu 37 19 42563637 42563637 + Missense_Mutation SNP G G C TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr19:42563637G>C uc002osj.1 - 5 586 c.551C>G c.(550-552)TCC>TGC p.S184C GRIK5_uc010eib.1_Missense_Mutation_p.S103C NM_002088 NP_002079 Q16478 GRIK5_HUMAN glutamate receptor KA2 precursor 184 Extracellular (Potential). cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity 0 Prostate(69;0.059) L-Glutamic Acid(DB00142) CGTCTCCTTGGAGATGAGGAA 0.607 NA 13 68 0 0 0 0 MARK4 57787 broad.mit.edu 37 19 45774927 45774927 + Silent SNP C C T rs140158030 TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr19:45774927C>T uc002pbb.1 + 8 752 c.747C>T c.(745-747)CTC>CTT p.L249L MARK4_uc002paz.1_Missense_Mutation_p.S60L|MARK4_uc002pba.1_Silent_p.L249L|MARK4_uc002pbc.1_Silent_p.L115L Q96L34 MARK4_HUMAN RecName: Full=MAP/microtubule affinity-regulating kinase 4; EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1; 249 Protein kinase. microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding central_nervous_system(2)|large_intestine(1) 3 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) TGTACACCCTCGTCAGCGGCT 0.672 NA 68 42 0 0 0 0 ZNF347 84671 broad.mit.edu 37 19 53643919 53643919 + Missense_Mutation SNP C C A rs150489253 byFrequency TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr19:53643919C>A uc002qbb.1 - 5 2231 c.2162G>T c.(2161-2163)CGT>CTT p.R721L ZNF347_uc010eql.1_Missense_Mutation_p.R722L|ZNF347_uc002qbc.1_Missense_Mutation_p.R722L NM_032584 NP_115973 Q96SE7 ZN347_HUMAN zinc finger protein 347 721 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0179) TAGGCTTGAACGGACACTAAA 0.423 NA 41 168 4.16e-14 4.7e-14 1 0 EPN1 29924 broad.mit.edu 37 19 56203254 56203254 + Silent SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr19:56203254C>T uc002qlw.2 + 7 1239 c.897C>T c.(895-897)CCC>CCT p.P299P EPN1_uc002qlv.2_Silent_p.P274P|EPN1_uc010etd.2_Silent_p.P299P|EPN1_uc002qlx.2_Silent_p.P385P NM_001130072 NP_001123544 Q9Y6I3 EPN1_HUMAN epsin 1 isoform b 299 Ala/Gly/Pro-rich.|8 X 3 AA repeats of [ED]-P-W. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding 0 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) GGGGCGGCCCCCCTGTCCCTC 0.756 NA 9 29 0 0 0 0 AURKC 6795 broad.mit.edu 37 19 57743501 57743501 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr19:57743501G>A uc002qoe.2 + 3 394 c.205G>A c.(205-207)GTG>ATG p.V69M AURKC_uc002qoc.2_Missense_Mutation_p.V50M|AURKC_uc002qod.2_Missense_Mutation_p.V35M|AURKC_uc010etv.2_Missense_Mutation_p.V66M NM_001015878 NP_001015878 Q9UQB9 AURKC_HUMAN aurora kinase C isoform 1 69 Protein kinase. cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity lung(4)|ovary(2) 6 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) CCATTTCATTGTGGCCCTGAA 0.542 NA 34 30 0 0 0 0 NBAS 51594 broad.mit.edu 37 2 15557650 15557650 + Splice_Site SNP C C A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr2:15557650C>A uc002rcc.1 - 24 2789 c.2763_splice c.e24+1 p.S921_splice NBAS_uc010exl.1_Intron|NBAS_uc002rcd.1_Splice_Site NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein ovary(2)|liver(1)|skin(1) 4 ATAAAACCTACACTATTCATC 0.323 NA 13 20 0.000219431 0.00022769 1 0 HK2 3099 broad.mit.edu 37 2 75116479 75116479 + Missense_Mutation SNP G G A rs148653106 TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr2:75116479G>A uc002snd.2 + 17 4409 c.2483G>A c.(2482-2484)CGG>CAG p.R828Q NM_000189 NP_000180 P52789 HXK2_HUMAN hexokinase 2 828 Catalytic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity ovary(1)|lung(1) 2 GTGGTGGCCCGGCGGGCAGCC 0.607 NA 10 17 0 0 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098956 178098956 + Missense_Mutation SNP A A T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr2:178098956A>T uc002ulh.3 - 2 644 c.89T>A c.(88-90)CTT>CAT p.L30H NFE2L2_uc002ulg.3_Missense_Mutation_p.L14H|NFE2L2_uc010zfa.1_Missense_Mutation_p.L14H|NFE2L2_uc002uli.3_Missense_Mutation_p.L14H|NFE2L2_uc010fra.2_Missense_Mutation_p.L14H|NFE2L2_uc010frb.2_Missense_Mutation_p.L14H NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 30 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) ACTTACTCCAAGATCTATATC 0.363 NA Mis NSCLC|HNSCC HNSCC(56;0.16) 19 15 0 0 0 0 CASP8 841 broad.mit.edu 37 2 202131240 202131240 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr2:202131240G>A uc002uxr.1 + 3 240 c.31G>A c.(31-33)GGG>AGG p.G11R CASP8_uc010ftc.1_Missense_Mutation_p.G11R|CASP8_uc002uxo.1_Missense_Mutation_p.G11R|CASP8_uc002uxp.1_Missense_Mutation_p.G11R|CASP8_uc002uxq.1_Missense_Mutation_p.G11R|CASP8_uc002uxs.1_Missense_Mutation_p.G11R|CASP8_uc002uxt.1_Missense_Mutation_p.G70R|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.G11R|CASP8_uc002uxw.1_Missense_Mutation_p.G11R|CASP8_uc002uxy.1_Missense_Mutation_p.G11R|CASP8_uc002uxx.1_Missense_Mutation_p.G11R|CASP8_uc010ftf.2_Missense_Mutation_p.G11R NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor 11 DED 1. activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding|protein binding p.G11R(1) upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1) 5 TTATGATATTGGGGAACAACT 0.403 NA HNSCC(4;0.00038) 33 17 0 0 0 0 MPP4 58538 broad.mit.edu 37 2 202509991 202509991 + Missense_Mutation SNP T T A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr2:202509991T>A uc002uyk.3 - 22 2064 c.1856A>T c.(1855-1857)CAG>CTG p.Q619L ALS2CR4_uc002uyg.1_5'Flank|ALS2CR4_uc002uyh.1_5'Flank|MPP4_uc002uyi.3_Missense_Mutation_p.Q237L|MPP4_uc010ftj.2_Missense_Mutation_p.Q612L|MPP4_uc010zhq.1_Missense_Mutation_p.Q588L|MPP4_uc010zhr.1_Missense_Mutation_p.Q595L|MPP4_uc010zhs.1_Missense_Mutation_p.Q544L|MPP4_uc002uyj.3_Missense_Mutation_p.Q584L|MPP4_uc010zht.1_Missense_Mutation_p.Q561L|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.Q575L NM_033066 NP_149055 Q96JB8 MPP4_HUMAN membrane protein, palmitoylated 4 619 Potential. cytoplasm protein binding 0 AGGCTCCTCCTGAGCCTTCTG 0.443 NA 20 8 0 0 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3684688 3684688 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr20:3684688G>A uc002wja.2 - 4 757 c.757C>T c.(757-759)CTT>TTT p.L253F SIGLEC1_uc002wiz.3_Missense_Mutation_p.L253F|SIGLEC1_uc002wjc.2_Missense_Mutation_p.L164F NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 253 Ig-like C2-type 2.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 TCACCTGGAAGGATGTTCCTC 0.577 NA 18 38 0 0 0 0 CDS2 8760 broad.mit.edu 37 20 5169814 5169814 + Missense_Mutation SNP A A C TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr20:5169814A>C uc002wls.2 + 11 1340 c.1083A>C c.(1081-1083)AAA>AAC p.K361N CDS2_uc010zqt.1_RNA|CDS2_uc002wlu.2_Missense_Mutation_p.N313T|CDS2_uc010zqu.1_Missense_Mutation_p.K241N|CDS2_uc002wlv.2_Missense_Mutation_p.K263N|CDS2_uc010zqv.1_Missense_Mutation_p.K131N NM_003818 NP_003809 O95674 CDS2_HUMAN phosphatidate cytidylyltransferase 2 361 phospholipid biosynthetic process integral to membrane|mitochondrial inner membrane phosphatidate cytidylyltransferase activity 0 GTGGATTCAAACGAGCCTTTA 0.517 NA 23 41 0 0 0 0 PYGB 5834 broad.mit.edu 37 20 25239873 25239873 + Missense_Mutation SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr20:25239873C>T uc002wup.2 + 2 353 c.244C>T c.(244-246)CGC>TGC p.R82C NM_002862 NP_002853 P11216 PYGB_HUMAN brain glycogen phosphorylase 82 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 Pyridoxal Phosphate(DB00114) GCTTCCTCAGCGCATTTATTA 0.478 NA 10 27 0 0 0 0 DNTTIP1 116092 broad.mit.edu 37 20 44439538 44439538 + Silent SNP C C T rs148278422 TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr20:44439538C>T uc002xpk.2 + 12 878 c.810C>T c.(808-810)ATC>ATT p.I270I UBE2C_uc002xpl.2_5'Flank|UBE2C_uc002xpm.2_5'Flank|UBE2C_uc002xpn.2_5'Flank|UBE2C_uc002xpo.2_5'Flank|UBE2C_uc002xpp.2_5'Flank|UBE2C_uc002xpq.2_5'Flank NM_052951 NP_443183 Q9H147 TDIF1_HUMAN terminal deoxynucleotidyltransferase interacting 270 nucleus ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(115;0.0122) ACCTCCTCATCGAGGAGGACA 0.507 NA 14 28 0 0 0 0 TIAM1 7074 broad.mit.edu 37 21 32639127 32639127 + Silent SNP C C G TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr21:32639127C>G uc002yow.1 - 5 634 c.162G>C c.(160-162)GTG>GTC p.V54V TIAM1_uc011adk.1_Silent_p.V54V|TIAM1_uc011adl.1_Silent_p.V54V|TIAM1_uc002yox.1_Intron NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 54 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 ATCGGGTGCTCACTTCGGAGT 0.637 NA 10 31 0 0 0 0 TIAM1 7074 broad.mit.edu 37 21 32639148 32639148 + Silent SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr21:32639148C>T uc002yow.1 - 5 613 c.141G>A c.(139-141)GTG>GTA p.V47V TIAM1_uc011adk.1_Silent_p.V47V|TIAM1_uc011adl.1_Silent_p.V47V|TIAM1_uc002yox.1_Intron NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 47 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 TCCTGTGGATCACCTTCCCCG 0.627 NA 7 30 0 0 0 0 TTC3 7267 broad.mit.edu 37 21 38538338 38538338 + Silent SNP C C G TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr21:38538338C>G uc002yvz.2 + 33 3927 c.3822C>G c.(3820-3822)GTC>GTG p.V1274V TTC3_uc011aee.1_Silent_p.V964V|TTC3_uc002ywa.2_Silent_p.V1274V|TTC3_uc002ywb.2_Silent_p.V1274V|TTC3_uc010gnf.2_Silent_p.V1039V|TTC3_uc002ywc.2_Silent_p.V964V|TTC3_uc002ywd.1_Silent_p.V338V NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1274 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) CCAAAGGGGTCTCTTCTAATT 0.458 NA 30 53 0 0 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072531 17072531 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr22:17072531G>A uc002zlp.1 - 1 1170 c.910C>T c.(910-912)CTC>TTC p.L304F NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 304 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GCCAGTGTGAGGGTCTCCTCG 0.512 NA 53 81 0 0 0 0 SEC14L4 284904 broad.mit.edu 37 22 30891410 30891410 + Missense_Mutation SNP G G A rs145663781 byFrequency TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr22:30891410G>A uc003aid.2 - 5 354 c.254C>T c.(253-255)TCG>TTG p.S85L SEC14L4_uc011akz.1_Missense_Mutation_p.S85L|SEC14L4_uc003aie.2_Missense_Mutation_p.S70L|SEC14L4_uc003aif.2_Missense_Mutation_p.S31L NM_174977 NP_777637 Q9UDX3 S14L4_HUMAN SEC14p-like protein TAP3 isoform a 85 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity skin(1) 1 Vitamin E(DB00163) AAGACCACCCGAGTCATACAG 0.582 NA 25 44 0 0 0 0 C22orf9 23313 broad.mit.edu 37 22 45607844 45607844 + Missense_Mutation SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr22:45607844C>T uc003bfx.1 - 2 275 c.209G>A c.(208-210)GGG>GAG p.G70E C22orf9_uc003bfv.1_Missense_Mutation_p.G79E|C22orf9_uc003bfw.1_Missense_Mutation_p.G75E|C22orf9_uc010gzx.2_Missense_Mutation_p.G52E NM_001009880 NP_001009880 Q6ICG6 K0930_HUMAN hypothetical protein LOC23313 isoform b 70 protein binding 0 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024) CACCTTCCTCCCGTCTGCACC 0.617 NA 37 74 0 0 0 0 SETD2 29072 broad.mit.edu 37 3 47163754 47163754 + Nonsense_Mutation SNP G G C TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr3:47163754G>C uc003cqs.2 - 3 2425 c.2372C>G c.(2371-2373)TCA>TGA p.S791* SETD2_uc003cqv.2_Nonsense_Mutation_p.S780* NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 791 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) GTATATGTCTGAATCTTTGGT 0.358 NA N|F|S|Mis clear cell renal carcinoma 24 47 0 0 0 0 NPHP3 27031 broad.mit.edu 37 3 132423041 132423041 + Splice_Site SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr3:132423041C>T uc003epe.1 - 9 1601 c.1524_splice c.e9+1 p.K508_splice NPHP3_uc003epf.1_Splice_Site_p.K263_splice NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN nephrocystin 3 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding ovary(1) 1 CAAGCACTTACTTTCTCAAAT 0.343 NA 37 66 0 0 0 0 FNDC3B 64778 broad.mit.edu 37 3 172003763 172003763 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr3:172003763G>A uc003fhy.2 + 7 1010 c.838G>A c.(838-840)GAG>AAG p.E280K FNDC3B_uc003fhz.3_Missense_Mutation_p.E280K|FNDC3B_uc003fia.2_Missense_Mutation_p.E211K NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 280 Fibronectin type-III 1. endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) TTCGGGAATAGAGAAACCACA 0.353 NA 15 38 0 0 0 0 UGT2B10 7365 broad.mit.edu 37 4 69696413 69696413 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr4:69696413G>A uc003hee.2 + 6 1428 c.1403G>A c.(1402-1404)CGC>CAC p.R468H UGT2B10_uc011cam.1_Missense_Mutation_p.R384H NM_001075 NP_001066 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2B10 isoform 1 468 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 TTTGTCATGCGCCACAAAGGA 0.448 NA 39 60 0 0 0 0 KLKB1 3818 broad.mit.edu 37 4 187171481 187171481 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr4:187171481G>A uc003iyy.2 + 7 754 c.683G>A c.(682-684)CGG>CAG p.R228Q KLKB1_uc011clc.1_Missense_Mutation_p.G16R|KLKB1_uc011cld.1_Missense_Mutation_p.R190Q NM_000892 NP_000883 P03952 KLKB1_HUMAN plasma kallikrein B1 precursor 228 Apple 3. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity ovary(1) 1 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) TTTGTGTGTCGGACCATCTGC 0.463 NA 26 67 0 0 0 0 UGT3A1 133688 broad.mit.edu 37 5 35955843 35955843 + Missense_Mutation SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr5:35955843C>T uc003jjv.1 - 6 1356 c.1199G>A c.(1198-1200)CGA>CAA p.R400Q UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.R400Q|UGT3A1_uc011cor.1_Missense_Mutation_p.R366Q NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 400 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGCTACTACTCGGACCATGTT 0.483 NA 23 50 0 0 0 0 HCN1 348980 broad.mit.edu 37 5 45262411 45262411 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr5:45262411G>A uc003jok.2 - 8 2310 c.2285C>T c.(2284-2286)ACG>ATG p.T762M NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 762 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 ATTTTTCGGCGTGGAGCTGCC 0.438 NA 12 29 0 0 0 0 RAD17 5884 broad.mit.edu 37 5 68682287 68682287 + Missense_Mutation SNP A A G TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr5:68682287A>G uc003jwo.2 + 8 984 c.922A>G c.(922-924)AAC>GAC p.N308D RAD17_uc003jwg.2_Missense_Mutation_p.N297D|RAD17_uc003jwh.2_Missense_Mutation_p.N297D|RAD17_uc003jwi.2_Missense_Mutation_p.N297D|RAD17_uc003jwj.2_Missense_Mutation_p.N297D|RAD17_uc003jwk.2_Missense_Mutation_p.N297D|RAD17_uc003jwl.2_Missense_Mutation_p.N297D|RAD17_uc003jwm.2_Missense_Mutation_p.N132D|RAD17_uc003jwn.2_Missense_Mutation_p.N211D NM_133339 NP_579917 O75943 RAD17_HUMAN RAD17 homolog isoform 2 308 cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding 0 Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) TATAGAAGCTAACAAGGTAAG 0.284 NA Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 8 16 0 0 0 0 IQGAP2 10788 broad.mit.edu 37 5 75991296 75991296 + Silent SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr5:75991296G>A uc003kek.2 + 32 4233 c.4011G>A c.(4009-4011)ACG>ACA p.T1337T IQGAP2_uc011csv.1_Silent_p.T833T|IQGAP2_uc003kel.2_Silent_p.T833T|IQGAP2_uc010izw.1_Silent_p.T38T NM_006633 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 1337 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity ovary(6)|central_nervous_system(1) 7 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) ACCATGCCACGGACATGGTGA 0.433 NA 12 27 0 0 0 0 ARRDC3 57561 broad.mit.edu 37 5 90670932 90670932 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr5:90670932G>A uc003kjz.2 - 5 917 c.677C>T c.(676-678)GCA>GTA p.A226V NM_020801 NP_065852 Q96B67 ARRD3_HUMAN arrestin domain containing 3 226 signal transduction cytoplasm protein binding ovary(1)|breast(1) 2 all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207) OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22) GTAAATGGCTGCCTTTGGCAC 0.418 NA 20 38 0 0 0 0 NDST1 3340 broad.mit.edu 37 5 149901143 149901143 + Silent SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr5:149901143C>T uc003lsk.3 + 2 829 c.327C>T c.(325-327)TTC>TTT p.F109F NDST1_uc011dcj.1_Silent_p.F109F|NDST1_uc003lsl.2_Silent_p.F109F NM_001543 NP_001534 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan 109 Heparan sulfate N-deacetylase 1.|Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(1)|skin(1) 2 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCAGCCGCTTCAAATACCGCA 0.612 NA 25 80 0 0 0 0 GRIA1 2890 broad.mit.edu 37 5 153149755 153149755 + Missense_Mutation SNP A A T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr5:153149755A>T uc003lva.3 + 13 2415 c.2050A>T c.(2050-2052)ATG>TTG p.M684L GRIA1_uc003luy.3_Missense_Mutation_p.M684L|GRIA1_uc003luz.3_Missense_Mutation_p.M589L|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.M604L|GRIA1_uc011dcx.1_Missense_Mutation_p.M615L|GRIA1_uc011dcy.1_Missense_Mutation_p.M694L|GRIA1_uc011dcz.1_Missense_Mutation_p.M694L NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 684 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GTTTGAGAAGATGTGGACATA 0.463 NA 33 62 0 0 0 0 SNRNP48 154007 broad.mit.edu 37 6 7601664 7601664 + Missense_Mutation SNP G G A rs141422613 TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr6:7601664G>A uc003mxr.2 + 5 561 c.502G>A c.(502-504)GTA>ATA p.V168I SNRNP48_uc003mxs.2_RNA NM_152551 NP_689764 Q6IEG0 SNR48_HUMAN U11/U12 snRNP 48K 168 mRNA processing cytoplasm|U12-type spliceosomal complex metal ion binding 0 CTATGATTTCGTAGTTGAGGA 0.378 NA 23 32 0 0 0 0 HLA-DQA2 3118 broad.mit.edu 37 6 32714066 32714066 + Silent SNP C C T rs143176293 TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr6:32714066C>T uc003obx.2 + 4 721 c.663C>T c.(661-663)TGC>TGT p.C221C NM_020056 NP_064440 P01906 DQA2_HUMAN major histocompatibility complex, class II, DQ 221 Helical; (Potential). antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity 0 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTTTGGTCTGCGCCCTGGGGT 0.552 NA 28 57 0 0 0 0 ZNF318 24149 broad.mit.edu 37 6 43306213 43306213 + Missense_Mutation SNP C C A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr6:43306213C>A uc003oux.2 - 10 5601 c.5523G>T c.(5521-5523)TTG>TTT p.L1841F ZNF318_uc003ouw.2_Intron NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1841 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TTCCTGTCATCAATTTATTGG 0.378 NA 28 39 2.49e-11 2.78e-11 1 0 C6orf138 442213 broad.mit.edu 37 6 47846396 47846396 + Silent SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr6:47846396G>A uc011dwm.1 - 3 2218 c.2133C>T c.(2131-2133)CAC>CAT p.H711H C6orf138_uc011dwn.1_Silent_p.H475H NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 728 Helical; (Potential). integral to membrane hedgehog receptor activity central_nervous_system(1) 1 GTGGTGCACAGTGGTCAATGG 0.438 NA 8 11 0 0 0 0 DOPEY1 23033 broad.mit.edu 37 6 83845504 83845504 + Missense_Mutation SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr6:83845504C>T uc003pjs.1 + 20 3297 c.3037C>T c.(3037-3039)CGT>TGT p.R1013C DOPEY1_uc011dyy.1_Missense_Mutation_p.R1004C|DOPEY1_uc010kbl.1_Missense_Mutation_p.R1004C|DOPEY1_uc003pjt.2_5'Flank NM_015018 NP_055833 Q5JWR5 DOP1_HUMAN dopey family member 1 1013 protein transport ovary(2)|breast(1)|central_nervous_system(1) 4 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TTCAGTACAGCGTGTACAAGC 0.433 NA 40 62 0 0 0 0 LATS1 9113 broad.mit.edu 37 6 150005729 150005729 + Splice_Site SNP C C T rs34361382 TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr6:150005729C>T uc003qmu.1 - 4 1045 c.497_splice c.e4-1 p.G166_splice LATS1_uc010kif.1_Splice_Site_p.G61_splice|LATS1_uc003qmv.1_Splice_Site_p.G166_splice|LATS1_uc003qmw.2_Intron|LATS1_uc010kig.1_Intron NM_004690 NP_004681 O95835 LATS1_HUMAN LATS homolog 1 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) TGCACATTCCCTATGGTTATA 0.383 NA 18 33 0 0 0 0 C7orf57 136288 broad.mit.edu 37 7 48080963 48080963 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr7:48080963G>A uc003toh.3 + 3 300 c.88G>A c.(88-90)GAG>AAG p.E30K C7orf57_uc003toi.3_5'UTR NM_001100159 NP_001093629 Q8NEG2 CG057_HUMAN hypothetical protein LOC136288 30 ovary(1) 1 GAAGCGCTCTGAGAAGGCCGT 0.587 NA 9 25 0 0 0 0 GRM3 2913 broad.mit.edu 37 7 86415775 86415775 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr7:86415775G>A uc003uid.2 + 3 1766 c.667G>A c.(667-669)GGG>AGG p.G223R GRM3_uc010lef.2_Missense_Mutation_p.G221R|GRM3_uc010leg.2_Missense_Mutation_p.G95R|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 223 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GGGTGATTACGGGGAGACAGG 0.612 NA 26 42 0 0 0 0 PTDSS1 9791 broad.mit.edu 37 8 97311963 97311963 + Nonsense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr8:97311963G>A uc003yht.1 + 6 744 c.642G>A c.(640-642)TGG>TGA p.W214* PTDSS1_uc003yhu.1_Nonsense_Mutation_p.W68* NM_014754 NP_055569 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 214 phosphatidylserine biosynthetic process integral to membrane transferase activity ovary(1) 1 Breast(36;6.18e-05) Phosphatidylserine(DB00144) CCGAGTGCTGGTGGGATCAAG 0.493 NA 47 68 0 0 0 0 FLJ46321 389763 broad.mit.edu 37 9 84609395 84609395 + Missense_Mutation SNP C C G TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr9:84609395C>G uc004amn.2 + 4 4057 c.4010C>G c.(4009-4011)TCC>TGC p.S1337C NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 1337 integral to membrane 0 AGCAAATCTTCCCCAACCTTG 0.478 NA 5 9 0 0 0 0 FAM47B 170062 broad.mit.edu 37 X 34962352 34962352 + Nonsense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chrX:34962352G>A uc004ddi.1 + 1 1422 c.1404G>A c.(1402-1404)TGG>TGA p.W468* NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 468 ovary(3)|breast(1) 4 ACTTCAAGTGGGCTGGAGACC 0.433 NA 4 45 0 0 0 0 ELF4 2000 broad.mit.edu 37 X 129201147 129201147 + Missense_Mutation SNP G G A TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chrX:129201147G>A uc004evd.3 - 9 1926 c.1541C>T c.(1540-1542)TCT>TTT p.S514F ELF4_uc004eve.3_Missense_Mutation_p.S514F NM_001421 NP_001412 Q99607 ELF4_HUMAN E74-like factor 4 514 natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 AGGGGGCTGAGAGCTGGGCCC 0.642 NA T ERG AML 24 10 0 0 0 0 ITSN2 50618 broad.mit.edu 37 2 24471709 24471710 + Frame_Shift_Ins INS - - T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr2:24471709_24471710insT uc002rfe.2 - 26 3420_3421 c.3162_3163insA c.(3160-3165)AAACCTfs p.K1054fs ITSN2_uc002rff.2_Frame_Shift_Ins_p.K1027fs|ITSN2_uc002rfg.2_Frame_Shift_Ins_p.K1054fs|ITSN2_uc002rfh.1_RNA NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 1054_1055 SH3 4. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TACGTACCAGGTTTTTTATTTG 0.342 NA 24 70 --- --- --- --- NA NA NA NA ELF2 1998 broad.mit.edu 37 4 139980327 139980327 + Frame_Shift_Del DEL T T - TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr4:139980327delT uc003ihp.1 - 9 1762 c.1556delA c.(1555-1557)AAGfs p.K519fs ELF2_uc003ihm.1_Frame_Shift_Del_p.K471fs|ELF2_uc003ihn.1_Frame_Shift_Del_p.K459fs|ELF2_uc003iho.1_Frame_Shift_Del_p.K442fs|ELF2_uc011chc.1_Frame_Shift_Del_p.K334fs NM_201999 NP_973728 Q15723 ELF2_HUMAN E74-like factor 2 (ets domain transcription 531 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 all_hematologic(180;0.162) CTCTGGCCCCTTTATGACTGC 0.448 NA 63 144 --- --- --- --- NA NA NA NA HLA-B 3106 broad.mit.edu 37 6 31323136 31323137 + Frame_Shift_Ins INS - - ATGG rs41551415 TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr6:31323136_31323137insATGG uc003nth.2 - 4 906_907 c.852_853insCCAT c.(850-855)CATGTAfs p.H284fs HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_RNA|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Frame_Shift_Ins_p.H163fs|HLA-B_uc003nti.1_RNA|HLA-B_uc010jsn.1_RNA NM_005514 NP_005505 P01889 1B07_HUMAN major histocompatibility complex, class I, B 284_285 Alpha-3.|Ig-like C1-type.|Extracellular (Potential). antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity 0 TCATGCTGTACATGGCATGTGT 0.564 NA Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of 8 42 --- --- --- --- NA NA NA NA DST 667 broad.mit.edu 37 6 56496014 56496017 + Frame_Shift_Del DEL TATG TATG - TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr6:56496014_56496017delTATG uc003pdf.2 - 29 4063_4066 c.4035_4038delCATA c.(4033-4038)TACATAfs p.Y1345fs DST_uc003pcz.3_Frame_Shift_Del_p.Y1167fs|DST_uc011dxj.1_Frame_Shift_Del_p.Y1196fs|DST_uc011dxk.1_Frame_Shift_Del_p.Y1207fs|DST_uc003pcy.3_Frame_Shift_Del_p.Y841fs|DST_uc003pdb.2_Frame_Shift_Del_p.Y841fs|DST_uc003pdc.3_Frame_Shift_Del_p.Y841fs|DST_uc003pdd.3_Frame_Shift_Del_p.Y841fs NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 1167_1168 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|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 ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CATACTTATCTATGTAAGTGGAAG 0.299 NA 15 47 --- --- --- --- NA NA NA NA DST 667 broad.mit.edu 37 6 56496801 56496802 + Frame_Shift_Del DEL AG AG - TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 67b184fe-c4f4-49f3-938e-5370eb6246b9 a635afcc-e437-4cc7-80ff-b710698cfde3 g.chr6:56496801_56496802delAG uc003pdf.2 - 28 3771_3772 c.3743_3744delCT c.(3742-3744)TCTfs p.S1248fs DST_uc003pcz.3_Frame_Shift_Del_p.S1070fs|DST_uc011dxj.1_Frame_Shift_Del_p.S1099fs|DST_uc011dxk.1_Frame_Shift_Del_p.S1110fs|DST_uc003pcy.3_Frame_Shift_Del_p.S744fs|DST_uc003pdb.2_Frame_Shift_Del_p.S744fs|DST_uc003pdc.3_Frame_Shift_Del_p.S744fs|DST_uc003pdd.3_Frame_Shift_Del_p.S744fs NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 1070 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|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 ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTCGAACTTCAGAGATGTAGAG 0.361 NA 17 37 --- --- --- --- NA NA NA NA