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 HTR1D 3352 broad.mit.edu 37 1 23520602 23520602 + Silent SNP G G C TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr1:23520602G>C uc001bgn.2 - 1 621 c.111C>G c.(109-111)CTC>CTG p.L37L NM_000864 NP_000855 P28221 5HT1D_HUMAN 5-hydroxytryptamine (serotonin) receptor 1D 37 Extracellular (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission integral to plasma membrane serotonin receptor activity 0 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185) Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315) GGGAGATCTTGAGCGCCTGGA 0.567 NA 9 126 0 0 0 0 GPATCH3 63906 broad.mit.edu 37 1 27226896 27226896 + Missense_Mutation SNP A A G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr1:27226896A>G uc001bne.2 - 1 67 c.38T>C c.(37-39)GTT>GCT p.V13A GPATCH3_uc009vsp.1_5'UTR NM_022078 NP_071361 Q96I76 GPTC3_HUMAN G patch domain containing 3 13 intracellular nucleic acid binding 0 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) TACCAGGTAAACTGTCGCCTC 0.592 NA 3 68 0 0 0 0 JAK1 3716 broad.mit.edu 37 1 65307005 65307005 + Missense_Mutation SNP C C G rs67572613 TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr1:65307005C>G uc001dbu.1 - 19 2821 c.2572G>C c.(2572-2574)GAA>CAA p.E858Q JAK1_uc009wam.1_Missense_Mutation_p.E846Q|JAK1_uc009wal.1_Missense_Mutation_p.E35Q NM_002227 NP_002218 P23458 JAK1_HUMAN janus kinase 1 858 interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1) 61 BRCA - Breast invasive adenocarcinoma(111;0.0485) GGTTTTTTTTCTGAAACAATA 0.473 NA Mis ALL 16 143 0 0 0 0 FCRLB 127943 broad.mit.edu 37 1 161697058 161697058 + Missense_Mutation SNP C C G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr1:161697058C>G uc001gbh.2 + 8 1121 c.887C>G c.(886-888)TCC>TGC p.S296C FCRLB_uc009wus.2_Missense_Mutation_p.S296C|FCRLB_uc001gbj.2_Missense_Mutation_p.P248A|FCRLB_uc001gbk.2_Silent_p.L261L|FCRLB_uc001gbl.2_Missense_Mutation_p.P241A|FCRLB_uc001gbm.2_Silent_p.L254L|FCRLB_uc001gbi.2_Missense_Mutation_p.S296C|FCRLB_uc001gbn.3_Silent_p.L298L NM_001002901 NP_001002901 Q6BAA4 FCRLB_HUMAN Fc receptor-like B 296 endoplasmic reticulum 0 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) GACCCGGCCTCCACCACCGCC 0.582 NA 3 47 0 0 0 0 GLUL 2752 broad.mit.edu 37 1 182355001 182355001 + Missense_Mutation SNP C C T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr1:182355001C>T uc001gpa.1 - 5 709 c.497G>A c.(496-498)GGA>GAA p.G166E GLUL_uc010pnt.1_5'Flank|GLUL_uc001gpb.1_Missense_Mutation_p.G166E|GLUL_uc001gpc.1_Missense_Mutation_p.G166E|GLUL_uc001gpd.1_Missense_Mutation_p.G166E NM_001033056 NP_001028228 P15104 GLNA_HUMAN glutamine synthetase 166 cell proliferation|glutamine biosynthetic process|neurotransmitter uptake cytosol|Golgi apparatus|mitochondrion ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding 0 Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134) TCTGTCTGCTCCCACACCACA 0.512 NA 14 176 0 0 0 0 PAPSS2 9060 broad.mit.edu 37 10 89472868 89472868 + Missense_Mutation SNP C C T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr10:89472868C>T uc001kex.2 + 3 445 c.182C>T c.(181-183)GCC>GTC p.A61V PAPSS2_uc001kew.2_Missense_Mutation_p.A61V|PAPSS2_uc009xtg.1_RNA NM_004670 NP_004661 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 61 Adenylyl-sulfate kinase. 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|skin(1) 2 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) ATAAGTTTTGCCCTGGAGGAG 0.473 NA 5 281 0 0 0 0 TNKS2 80351 broad.mit.edu 37 10 93602119 93602119 + Missense_Mutation SNP G G A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr10:93602119G>A uc001khp.2 + 16 2327 c.2030G>A c.(2029-2031)GGC>GAC p.G677D NM_025235 NP_079511 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related 677 positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding kidney(3)|skin(3)|ovary(1)|lung(1) 8 Colorectal(252;0.162) GATACCCAAGGCAGACATTCA 0.403 NA 5 104 0 0 0 0 PDCD11 22984 broad.mit.edu 37 10 105176373 105176373 + Silent SNP C C T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr10:105176373C>T uc001kwy.1 + 13 1731 c.1644C>T c.(1642-1644)TTC>TTT p.F548F NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 548 S1 motif 6. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) CACATGGCTTCATCATCAGGG 0.488 NA OREG0020494 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 131 0 0 0 0 PPP2R2D 55844 broad.mit.edu 37 10 133769208 133769208 + Missense_Mutation SNP A A G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr10:133769208A>G uc001lks.2 + 7 1247 c.1004A>G c.(1003-1005)TAT>TGT p.Y335C PPP2R2D_uc001lkr.2_Missense_Mutation_p.Y141C|PPP2R2D_uc001lkt.2_Missense_Mutation_p.Y141C|PPP2R2D_uc009yay.2_Missense_Mutation_p.Y203C NM_018461 NP_060931 Q66LE6 2ABD_HUMAN protein phosphatase 2, regulatory subunit B, 368 WD 6. cell division|exit from mitosis|mitosis|signal transduction cytoplasm|protein phosphatase type 2A complex protein phosphatase type 2A regulator activity skin(1) 1 all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21) ACCGGGTCCTATAACAACTTC 0.602 NA 5 39 0 0 0 0 IGSF22 283284 broad.mit.edu 37 11 18743146 18743146 + Missense_Mutation SNP C C T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr11:18743146C>T uc009yht.2 - 4 504 c.314G>A c.(313-315)GGC>GAC p.G105D IGSF22_uc001mpa.2_RNA NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 105 Ig-like 1. ovary(4)|large_intestine(2)|kidney(1) 7 GATGGGGATGCCGCTCTCCCT 0.592 NA OREG0020822 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 201 0 0 0 0 C11orf54 28970 broad.mit.edu 37 11 93488478 93488478 + Missense_Mutation SNP T T G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr11:93488478T>G uc009ywi.2 + 7 764 c.433T>G c.(433-435)TAC>GAC p.Y145D C11orf54_uc001pee.1_Intron|C11orf54_uc001pef.2_Missense_Mutation_p.Y145D|C11orf54_uc001peg.2_Missense_Mutation_p.Y145D|C11orf54_uc001peh.2_Missense_Mutation_p.Y145D|C11orf54_uc001pei.2_Missense_Mutation_p.Y126D|C11orf54_uc001pej.2_Missense_Mutation_p.Y126D|C11orf54_uc001pek.2_Missense_Mutation_p.Y34D NM_014039 NP_054758 Q9H0W9 CK054_HUMAN hypothetical protein LOC28970 145 nucleus hydrolase activity, acting on ester bonds|protein binding|zinc ion binding 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) ACTGGAGAAATACAGTGAGAA 0.423 NA 4 105 0 0 0 0 MLL 4297 broad.mit.edu 37 11 118390377 118390377 + Missense_Mutation SNP G G T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr11:118390377G>T uc001pta.2 + 32 11205 c.11182G>T c.(11182-11184)GTG>TTG p.V3728L MLL_uc001ptb.2_Missense_Mutation_p.V3731L NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3728 FYR C-terminal. apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) TGATGCAGTTGTGTTCCTCAT 0.502 NA T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 16 151 0.000566183 0.000656322 1 0 OR8D4 338662 broad.mit.edu 37 11 123777472 123777472 + Missense_Mutation SNP T T A rs139359205 TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr11:123777472T>A uc010saa.1 + 1 334 c.334T>A c.(334-336)TGC>AGC p.C112S NM_001005197 NP_001005197 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, 112 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TATTTCTGAATGCTACATGCT 0.478 NA 11 249 0 0 0 0 ESYT1 23344 broad.mit.edu 37 12 56527377 56527377 + Silent SNP C C T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr12:56527377C>T uc001sjq.2 + 12 1349 c.1299C>T c.(1297-1299)TTC>TTT p.F433F ESYT1_uc001sjr.2_Silent_p.F433F NM_015292 NP_056107 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 433 integral to membrane ovary(4)|skin(1) 5 TCTAGTGGTTCCCTCTACAAG 0.458 NA 6 100 0 0 0 0 PITPNM2 57605 broad.mit.edu 37 12 123498545 123498545 + Missense_Mutation SNP C C G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr12:123498545C>G uc001uej.1 - 3 262 c.123G>C c.(121-123)GAG>GAC p.E41D PITPNM2_uc001uek.1_Missense_Mutation_p.E41D|PITPNM2_uc009zxu.1_Missense_Mutation_p.E41D NM_020845 NP_065896 Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, 41 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) TCTCCAGGATCTCCACGCCGC 0.587 NA 4 108 0 0 0 0 HMGB1 3146 broad.mit.edu 37 13 31037677 31037677 + Missense_Mutation SNP C C G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr13:31037677C>G uc001usw.2 - 2 325 c.141G>C c.(139-141)GAG>GAC p.E47D HMGB1_uc001usz.2_Missense_Mutation_p.E47D|HMGB1_uc001usv.2_Missense_Mutation_p.E47D|HMGB1_uc001usx.2_Missense_Mutation_p.E47D|HMGB1_uc001usy.2_Intron|HMGB1_uc001uta.1_Missense_Mutation_p.E47D NM_002128 NP_002119 P09429 HMGB1_HUMAN high-mobility group box 1 47 HMG box 1. base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding ovary(1) 1 Lung SC(185;0.0257) all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232) CCTTCCACCTCTCTGAGCACT 0.408 NA 5 243 0 0 0 0 HMGB1 3146 broad.mit.edu 37 13 31037728 31037728 + Silent SNP C C T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr13:31037728C>T uc001usw.2 - 2 274 c.90G>A c.(88-90)AAG>AAA p.K30K HMGB1_uc001usz.2_Silent_p.K30K|HMGB1_uc001usv.2_Silent_p.K30K|HMGB1_uc001usx.2_Silent_p.K30K|HMGB1_uc001usy.2_Missense_Mutation_p.S15N|HMGB1_uc001uta.1_Silent_p.K30K NM_002128 NP_002119 P09429 HMGB1_HUMAN high-mobility group box 1 30 HMG box 1. base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding ovary(1) 1 Lung SC(185;0.0257) all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232) CATCTGGGTGCTTCTTCTTAT 0.408 NA 6 196 0 0 0 0 RNASE11 122651 broad.mit.edu 37 14 21052160 21052160 + Nonsense_Mutation SNP G G T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr14:21052160G>T uc010ahv.2 - 2 659 c.474C>A c.(472-474)TGC>TGA p.C158* RNASE11_uc010ahx.2_Nonsense_Mutation_p.C158*|RNASE11_uc010ahw.2_Nonsense_Mutation_p.C158*|RNASE11_uc001vxs.2_Nonsense_Mutation_p.C158* NM_145250 NP_660293 Q8TAA1 RNS11_HUMAN ribonuclease, RNase A family, 11 (non-active) 158 extracellular region nucleic acid binding|pancreatic ribonuclease activity ovary(3) 3 all_cancers(95;0.00238) all_lung(585;0.235) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.0139) TAGTGAACTGGCACACTGTAT 0.488 NA 9 85 0.00448238 0.00506988 1 0 PLCB2 5330 broad.mit.edu 37 15 40591135 40591135 + Silent SNP C C T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr15:40591135C>T uc001zld.2 - 9 1015 c.714G>A c.(712-714)AAG>AAA p.K238K PLCB2_uc010bbo.2_Silent_p.K238K|PLCB2_uc010ucm.1_Silent_p.K238K NM_004573 NP_004564 Q00722 PLCB2_HUMAN phospholipase C, beta 2 238 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3)|breast(3)|kidney(1)|pancreas(1) 8 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) TCAGGTGCTCCTTCGTCATGT 0.577 NA 9 164 0 0 0 0 DNAH3 55567 broad.mit.edu 37 16 21136514 21136514 + Silent SNP G G A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr16:21136514G>A uc010vbe.1 - 9 1386 c.1386C>T c.(1384-1386)TCC>TCT p.S462S DNAH3_uc002die.2_Silent_p.S433S NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 462 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) TCATGAAAAGGGAAACGAGGT 0.453 NA 8 113 0 0 0 0 FTSJD1 55783 broad.mit.edu 37 16 71319121 71319121 + Missense_Mutation SNP C C A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr16:71319121C>A uc010cga.2 - 3 1109 c.703G>T c.(703-705)GAT>TAT p.D235Y FTSJD1_uc002ezy.3_Missense_Mutation_p.D235Y|FTSJD1_uc002ezz.3_Missense_Mutation_p.D235Y NM_001099642 NP_001093112 Q8IYT2 FTSJ1_HUMAN FtsJ methyltransferase domain containing 1 235 S-adenosyl-L-methionine (By similarity). integral to membrane methyltransferase activity|nucleic acid binding skin(1) 1 AAACTCCCATCTGCAGTGACC 0.428 NA 19 75 9.77e-05 0.000114916 1 0 SLFN12L 342615 broad.mit.edu 37 17 33806816 33806816 + Missense_Mutation SNP G G A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr17:33806816G>A uc002hjn.2 - 3 1379 c.500C>T c.(499-501)GCC>GTC p.A167V NM_001145027 NP_001138499 schlafen family member 12-like ovary(1) 1 GCTCAACGTGGCAATCTGCGG 0.433 NA 3 35 0 0 0 0 OR4D2 124538 broad.mit.edu 37 17 56247483 56247483 + Missense_Mutation SNP C C A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr17:56247483C>A uc010wnp.1 + 1 467 c.467C>A c.(466-468)TCT>TAT p.S156Y NM_001004707 NP_001004707 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, 156 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 TTTGTCCACTCTATTGTCCAG 0.567 NA 12 120 3.07e-06 3.67e-06 1 0 ZNF676 163223 broad.mit.edu 37 19 22363822 22363822 + Missense_Mutation SNP C C T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr19:22363822C>T uc002nqs.1 - 3 1015 c.697G>A c.(697-699)GCT>ACT p.A233T NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 233 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CGATTAAAAGCTTTGCCACAT 0.363 NA 11 179 0 0 0 0 DPY19L3 147991 broad.mit.edu 37 19 32923652 32923652 + Missense_Mutation SNP G G C TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr19:32923652G>C uc002ntg.2 + 4 444 c.268G>C c.(268-270)GAG>CAG p.E90Q DPY19L3_uc002nth.1_Missense_Mutation_p.E90Q NM_207325 NP_997208 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 90 integral to membrane ovary(4) 4 Esophageal squamous(110;0.162) ATTCAGAACAGAGTGTGGCCT 0.408 NA 6 86 0 0 0 0 ZFP30 22835 broad.mit.edu 37 19 38126325 38126325 + Missense_Mutation SNP G G C TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr19:38126325G>C uc002ogv.1 - 6 1633 c.1117C>G c.(1117-1119)CAG>GAG p.Q373E ZFP30_uc002ogw.1_Missense_Mutation_p.Q373E|ZFP30_uc002ogx.1_Missense_Mutation_p.Q373E|ZFP30_uc010xtt.1_Missense_Mutation_p.Q372E NM_014898 NP_055713 Q9Y2G7 ZFP30_HUMAN zinc finger protein 30 homolog 373 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGTATTCTCTGATGGAGAGTT 0.408 NA 4 137 0 0 0 0 ACTN4 81 broad.mit.edu 37 19 39200969 39200969 + Nonsense_Mutation SNP C C G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr19:39200969C>G uc002oja.1 + 8 865 c.806C>G c.(805-807)TCA>TGA p.S269* ACTN4_uc010egc.1_Nonsense_Mutation_p.S269* NM_004924 NP_004915 O43707 ACTN4_HUMAN actinin, alpha 4 269 Actin-binding.|CH 2. platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity 0 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CATGCCTTTTCAGGAGCGCAG 0.607 NA 4 218 0 0 0 0 CACNG8 59283 broad.mit.edu 37 19 54466602 54466602 + Missense_Mutation SNP G G A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr19:54466602G>A uc002qcs.1 + 1 309 c.203G>A c.(202-204)GGG>GAG p.G68E NM_031895 NP_114101 Q8WXS5 CCG8_HUMAN voltage-dependent calcium channel gamma-8 69 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity 0 all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.162) CCCCACCGCGGGGGCGGCGGC 0.716 NA 3 14 0 0 0 0 LILRA2 11027 broad.mit.edu 37 19 55085362 55085362 + Missense_Mutation SNP C C T rs145704089 byFrequency TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr19:55085362C>T uc002qgg.3 + 1 106 c.17C>T c.(16-18)ACG>ATG p.T6M LILRA2_uc010ern.2_Missense_Mutation_p.T6M|LILRA2_uc002qgf.2_Missense_Mutation_p.T6M|LILRA2_uc010yfe.1_Missense_Mutation_p.T6M|LILRA2_uc010yff.1_Missense_Mutation_p.T6M|LILRA2_uc010ero.2_Missense_Mutation_p.T6M|LILRA2_uc010yfg.1_Missense_Mutation_p.T6M NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 6 defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) CCCATCCTCACGGTCCTGATC 0.602 NA 13 159 0 0 0 0 SULT6B1 391365 broad.mit.edu 37 2 37410658 37410658 + Splice_Site SNP C C G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr2:37410658C>G uc002rpu.2 - 3 220 c.199_splice c.e3-1 p.R67_splice SULT6B1_uc010yni.1_Splice_Site NM_001032377 NP_001027549 Q6IMI4 ST6B1_HUMAN sulfotransferase family, cytosolic, 6B, member cytoplasm sulfotransferase activity ovary(1)|breast(1)|central_nervous_system(1) 3 all_hematologic(82;0.248) CTTTCATTCTCTTAAAAATAT 0.328 NA 3 105 0 0 0 0 IMMT 10989 broad.mit.edu 37 2 86374882 86374882 + Silent SNP A A G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr2:86374882A>G uc002sqz.3 - 13 1864 c.1476T>C c.(1474-1476)GAT>GAC p.D492D IMMT_uc002sqy.3_Silent_p.D233D|IMMT_uc002srb.3_Silent_p.D481D|IMMT_uc002sra.3_Silent_p.D491D|IMMT_uc010ytd.1_Silent_p.D480D|IMMT_uc010yte.1_Silent_p.D445D|IMMT_uc002src.1_Silent_p.D228D NM_006839 NP_006830 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial isoform 1 492 Mitochondrial intermembrane (Potential). integral to mitochondrial inner membrane protein binding skin(1) 1 CTCGCAAGTGATCAGTGTGGG 0.478 NA 8 128 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179436108 179436108 + Silent SNP G G C TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr2:179436108G>C uc010zfg.1 - 275 67271 c.67047C>G c.(67045-67047)GTC>GTG p.V22349V uc002umo.2_Intron|uc002ump.1_RNA|TTN_uc010zfh.1_Silent_p.V16044V|TTN_uc010zfi.1_Silent_p.V15977V|TTN_uc010zfj.1_Silent_p.V15852V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 23276 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGGACAGTGTGACAACTGGAG 0.468 NA 6 157 0 0 0 0 VIL1 7429 broad.mit.edu 37 2 219313973 219313973 + Missense_Mutation SNP C C G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr2:219313973C>G uc002via.2 + 20 2463 c.2398C>G c.(2398-2400)CAG>GAG p.Q800E VIL1_uc010zke.1_Missense_Mutation_p.Q489E|VIL1_uc002vib.2_Missense_Mutation_p.Q800E NM_007127 NP_009058 P09327 VILI_HUMAN villin 1 800 Headpiece.|HP. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity ovary(1) 1 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGATTTCACTCAGGCCTTTGG 0.493 NA 6 353 0 0 0 0 UGT1A8 54576 broad.mit.edu 37 2 234527158 234527158 + Missense_Mutation SNP A A G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr2:234527158A>G uc002vup.2 + 1 868 c.805A>G c.(805-807)ATG>GTG p.M269V UGT1A8_uc010zmv.1_Missense_Mutation_p.M269V NM_019076 NP_061949 Q9HAW9 UD18_HUMAN UDP glycosyltransferase 1 family, polypeptide A8 269 drug metabolic process|fatty acid metabolic process|flavone metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme inhibitor activity|fatty acid binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|steroid binding ovary(2) 2 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008) GATGCCCAATATGATCTTCAT 0.433 NA 33 408 0 0 0 0 NEURL2 140825 broad.mit.edu 37 20 44519216 44519216 + Missense_Mutation SNP G G C TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr20:44519216G>C uc002xqg.1 - 1 686 c.415C>G c.(415-417)CCA>GCA p.P139A C20orf165_uc002xqf.2_5'Flank|CTSA_uc002xqh.2_5'Flank|CTSA_uc002xqj.3_5'Flank|CTSA_uc002xqi.2_5'Flank|CTSA_uc010zxi.1_5'Flank|CTSA_uc002xqk.3_5'Flank NM_080749 NP_542787 Q9BR09 NEUL2_HUMAN neuralized-like protein 2 139 NHR. intracellular signal transduction 0 Myeloproliferative disorder(115;0.0122) AGGAGGGTTGGAGGTCGGCTG 0.697 NA 6 54 0 0 0 0 DHX30 22907 broad.mit.edu 37 3 47882464 47882464 + Missense_Mutation SNP G G A rs139889547 TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr3:47882464G>A uc003cru.2 + 7 890 c.464G>A c.(463-465)CGT>CAT p.R155H DHX30_uc003crs.2_Missense_Mutation_p.R116H|DHX30_uc003crt.2_Missense_Mutation_p.R116H|DHX30_uc010hjr.1_Missense_Mutation_p.R183H NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 30 155 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) AGCTGGTGGCGTCCGGAACCC 0.617 NA 7 53 0 0 0 0 NISCH 11188 broad.mit.edu 37 3 52505975 52505975 + Missense_Mutation SNP T T G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr3:52505975T>G uc011beg.1 + 6 627 c.555T>G c.(553-555)TGT>TGG p.C185W NISCH_uc003ded.3_Missense_Mutation_p.C185W|NISCH_uc003dec.1_Missense_Mutation_p.C185W NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 185 Necessary for homooligomerization and targeting to endosomes. apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity ovary(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) ACTTCACCTGTCGCCTTAAGT 0.617 NA OREG0015615 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 64 0 0 0 0 FXR1 8087 broad.mit.edu 37 3 180666565 180666565 + Missense_Mutation SNP T T A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr3:180666565T>A uc003fkq.2 + 6 498 c.476T>A c.(475-477)ATT>AAT p.I159N FXR1_uc003fkp.2_Missense_Mutation_p.I74N|FXR1_uc003fkr.2_Missense_Mutation_p.I159N|FXR1_uc011bqj.1_Missense_Mutation_p.I73N|FXR1_uc003fks.2_Missense_Mutation_p.I73N|FXR1_uc011bqk.1_Missense_Mutation_p.I110N|FXR1_uc011bql.1_Missense_Mutation_p.I146N NM_005087 NP_005078 P51114 FXR1_HUMAN fragile X mental retardation-related protein 1 159 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(1) 1 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) GCATGCAGAATTTTTTACCAT 0.303 NA 6 169 0 0 0 0 CPLX1 10815 broad.mit.edu 37 4 786392 786392 + Silent SNP G G A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr4:786392G>A uc003gbi.2 - 3 227 c.36C>T c.(34-36)GCC>GCT p.A12A CPLX1_uc003gbj.2_Silent_p.A12A NM_006651 NP_006642 O14810 CPLX1_HUMAN complexin 1 12 glutamate secretion cytosol 0 Colorectal(103;0.187) TGTCCTTGGTGGCCCCTGGTA 0.662 NA 11 93 0 0 0 0 TBC1D1 23216 broad.mit.edu 37 4 38138875 38138875 + Silent SNP G G A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr4:38138875G>A uc003gtb.2 + 20 3769 c.3426G>A c.(3424-3426)ACG>ACA p.T1142T TBC1D1_uc011byd.1_Silent_p.T1133T|TBC1D1_uc010ifd.2_Silent_p.T929T|TBC1D1_uc003gtd.2_Silent_p.T154T NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, 1142 nucleus Rab GTPase activator activity ovary(1) 1 TGCTGCAGACGGTGGAGGAGC 0.642 NA 7 60 0 0 0 0 SHROOM3 57619 broad.mit.edu 37 4 77692006 77692006 + Missense_Mutation SNP G G C TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr4:77692006G>C uc011cbx.1 + 10 6530 c.5577G>C c.(5575-5577)GAG>GAC p.E1859D SHROOM3_uc003hkg.2_Missense_Mutation_p.E1637D NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 1859 ASD2. apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) CCCGTGTTGAGAATGTCCTTA 0.502 NA 6 157 0 0 0 0 EGF 1950 broad.mit.edu 37 4 110834553 110834553 + Missense_Mutation SNP C C T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr4:110834553C>T uc003hzy.3 + 1 514 c.62C>T c.(61-63)TCA>TTA p.S21L EGF_uc011cfu.1_Missense_Mutation_p.S21L|EGF_uc011cfv.1_Missense_Mutation_p.S21L NM_001963 NP_001954 P01133 EGF_HUMAN epidermal growth factor precursor 21 angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) GTTAGTCTCTCAGCACCGCAG 0.428 NA 4 75 0 0 0 0 ANK2 287 broad.mit.edu 37 4 114279449 114279449 + Silent SNP C C T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr4:114279449C>T uc003ibe.3 + 38 9775 c.9675C>T c.(9673-9675)CTC>CTT p.L3225L ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Silent_p.L527L|ANK2_uc011cgb.1_Silent_p.L3240L NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 3192 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CCAAGGACCTCCCCACCGTGC 0.478 NA 10 106 0 0 0 0 ANK2 287 broad.mit.edu 37 4 114279897 114279897 + Missense_Mutation SNP C C G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr4:114279897C>G uc003ibe.3 + 38 10223 c.10123C>G c.(10123-10125)CAG>GAG p.Q3375E ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.Q677E|ANK2_uc011cgb.1_Missense_Mutation_p.Q3390E NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 3342 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AGTGGCTCCTCAGGGACAGGA 0.468 NA 9 103 0 0 0 0 RICTOR 253260 broad.mit.edu 37 5 38944564 38944564 + Nonsense_Mutation SNP C C A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr5:38944564C>A uc003jlp.2 - 36 4921 c.4897G>T c.(4897-4899)GAG>TAG p.E1633* RICTOR_uc003jlo.2_Nonsense_Mutation_p.E1657*|RICTOR_uc010ivf.2_Nonsense_Mutation_p.E1310* NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 1633 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) AGCCCAGTCTCATGACATTTA 0.323 NA 9 214 2.18e-05 2.58e-05 1 0 SPZ1 84654 broad.mit.edu 37 5 79616171 79616171 + Missense_Mutation SNP C C T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr5:79616171C>T uc003kgn.2 + 1 382 c.137C>T c.(136-138)TCC>TTC p.S46F uc011ctk.1_RNA NM_032567 NP_115956 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 46 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(1) 1 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) TCCCCTTCCTCCTGGGGCTCT 0.403 NA 7 225 0 0 0 0 PITX1 5307 broad.mit.edu 37 5 134364577 134364577 + Missense_Mutation SNP G G C TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr5:134364577G>C uc010jea.2 - 3 1230 c.837C>G c.(835-837)AAC>AAG p.N279K PITX1_uc011cxy.1_Missense_Mutation_p.N279K NM_002653 NP_002644 P78337 PITX1_HUMAN paired-like homeodomain transcription factor 1 279 Interacts with PIT-1 (By similarity). nucleolus sequence-specific DNA binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) READ - Rectum adenocarcinoma(2;0.0607) CTAGGCTCGAGTTGCACGTGT 0.677 NA 3 27 0 0 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140740003 140740003 + Missense_Mutation SNP C C G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr5:140740003C>G uc003ljs.1 + 1 301 c.301C>G c.(301-303)CTG>GTG p.L101V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Missense_Mutation_p.L101V NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 101 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAGCAGCCTCTGTGTGTTCT 0.418 NA 9 140 0 0 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140784546 140784546 + Missense_Mutation SNP G G A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr5:140784546G>A uc003lkh.1 + 1 2027 c.2027G>A c.(2026-2028)GGC>GAC p.G676D PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.G676D NM_018921 NP_061744 Q9Y5G4 PCDG9_HUMAN protocadherin gamma subfamily A, 9 isoform 1 676 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGACCTGGGCAGTCTTCAG 0.592 NA 9 136 0 0 0 0 KIFC1 3833 broad.mit.edu 37 6 33372879 33372879 + Missense_Mutation SNP C C T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr6:33372879C>T uc003oef.3 + 7 1457 c.1007C>T c.(1006-1008)TCT>TTT p.S336F KIFC1_uc011drf.1_Missense_Mutation_p.S328F NM_002263 NP_002254 Q9BW19 KIFC1_HUMAN kinesin family member C1 336 Kinesin-motor. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity 0 CTGTTTCCCTCTGGCCCTGGT 0.682 NA 5 187 0 0 0 0 PHF3 23469 broad.mit.edu 37 6 64421505 64421505 + Missense_Mutation SNP C C G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr6:64421505C>G uc003pep.1 + 15 4047 c.4021C>G c.(4021-4023)CTA>GTA p.L1341V PHF3_uc003pen.2_Missense_Mutation_p.L1253V|PHF3_uc011dxs.1_Missense_Mutation_p.L610V NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 1341 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TAGACCTAATCTATTGTTGGG 0.373 NA 13 197 0 0 0 0 SASH1 23328 broad.mit.edu 37 6 148855896 148855896 + Missense_Mutation SNP C C T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr6:148855896C>T uc003qme.1 + 16 2429 c.1954C>T c.(1954-1956)CCC>TCC p.P652S SASH1_uc011eeb.1_Missense_Mutation_p.P413S|SASH1_uc003qmf.1_Missense_Mutation_p.P62S NM_015278 NP_056093 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 652 SAM 1. protein binding central_nervous_system(1) 1 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) GGAGCACATGCCCACTTTCCT 0.502 NA 4 132 0 0 0 0 RAET1G 353091 broad.mit.edu 37 6 150240360 150240360 + Silent SNP G G C TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr6:150240360G>C uc010kii.1 - 3 518 c.450C>G c.(448-450)CTC>CTG p.L150L uc003qni.1_RNA|RAET1G_uc003qnm.2_RNA NM_001001788 NP_001001788 Q6H3X3 RET1G_HUMAN retinoic acid early transcript 1G precursor 150 Extracellular (Potential).|MHC class I alpha-2 like. antigen processing and presentation|immune response integral to membrane|MHC class I protein complex protein binding 0 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.73e-12) CTGAGTCAAAGAGGAGGAAGA 0.493 NA 18 183 0 0 0 0 ESR1 2099 broad.mit.edu 37 6 152163869 152163869 + Missense_Mutation SNP A A G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr6:152163869A>G uc003qom.3 + 4 960 c.590A>G c.(589-591)TAT>TGT p.Y197C ESR1_uc010kin.2_Missense_Mutation_p.Y197C|ESR1_uc010kio.2_Missense_Mutation_p.Y197C|ESR1_uc010kip.2_Missense_Mutation_p.Y197C|ESR1_uc003qon.3_Missense_Mutation_p.Y197C|ESR1_uc003qoo.3_Missense_Mutation_p.Y197C|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_RNA|ESR1_uc011eeu.1_RNA|ESR1_uc011eev.1_Missense_Mutation_p.Y24C|ESR1_uc011eew.1_Missense_Mutation_p.M29V NM_001122742 NP_001116214 P03372 ESR1_HUMAN estrogen receptor alpha isoform 4 197 NR C4-type.|Nuclear receptor.|Mediates interaction with DNTTIP2. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding central_nervous_system(2)|ovary(1)|lung(1)|breast(1) 5 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) GGCTACCATTATGGAGTCTGG 0.453 NA 8 99 0 0 0 0 TYW1B 441250 broad.mit.edu 37 7 72040531 72040531 + Missense_Mutation SNP G G T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr7:72040531G>T uc011kej.1 - 17 2118 c.1959C>A c.(1957-1959)GAC>GAA p.D653E TYW1B_uc011keh.1_Intron|TYW1B_uc011kei.1_Missense_Mutation_p.D279E NM_001145440 NP_001138912 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B isoform 653 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity 0 GATGTCTTGTGTCCTTGGGAT 0.408 NA 5 101 0.00116845 0.00134112 1 0 MAGI2 9863 broad.mit.edu 37 7 77885568 77885568 + Missense_Mutation SNP C C A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr7:77885568C>A uc003ugx.2 - 10 1993 c.1739G>T c.(1738-1740)GGC>GTC p.G580V MAGI2_uc003ugy.2_Missense_Mutation_p.G580V|MAGI2_uc010ldx.1_Missense_Mutation_p.G189V|MAGI2_uc010ldy.1_Missense_Mutation_p.G189V|MAGI2_uc011kgr.1_Missense_Mutation_p.G412V|MAGI2_uc011kgs.1_Missense_Mutation_p.G417V NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 580 cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TGGATACGTGCCGTCTAGCTG 0.507 NA 4 60 0.000602214 0.000694633 1 0 ZNF804B 219578 broad.mit.edu 37 7 88964688 88964688 + Nonsense_Mutation SNP A A T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr7:88964688A>T uc011khi.1 + 4 2930 c.2392A>T c.(2392-2394)AAA>TAA p.K798* NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 798 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AAAATACTCAAAACGTAGATA 0.348 NA HNSCC(36;0.09) 9 72 0 0 0 0 SAMD9L 219285 broad.mit.edu 37 7 92761232 92761232 + Nonsense_Mutation SNP G G T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr7:92761232G>T uc003umh.1 - 5 5269 c.4053C>A c.(4051-4053)TAC>TAA p.Y1351* SAMD9L_uc003umj.1_Nonsense_Mutation_p.Y1351*|SAMD9L_uc003umi.1_Nonsense_Mutation_p.Y1351*|SAMD9L_uc010lfb.1_Nonsense_Mutation_p.Y1351*|SAMD9L_uc003umk.1_Nonsense_Mutation_p.Y1351*|SAMD9L_uc010lfc.1_Nonsense_Mutation_p.Y1351*|SAMD9L_uc010lfd.1_Nonsense_Mutation_p.Y1351*|SAMD9L_uc011khx.1_3'UTR NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1351 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TAGCATCTTTGTAGTTTGGAT 0.388 NA 40 232 5.59e-11 6.75e-11 1 0 CTTNBP2 83992 broad.mit.edu 37 7 117432666 117432666 + Missense_Mutation SNP A A G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr7:117432666A>G uc003vjf.2 - 4 676 c.584T>C c.(583-585)GTA>GCA p.V195A NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 195 Potential. ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TTTGGCCATTACGTCTTCGAG 0.483 NA 3 159 0 0 0 0 GNE 10020 broad.mit.edu 37 9 36227321 36227321 + Missense_Mutation SNP T T C TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr9:36227321T>C uc010mlh.2 - 7 1420 c.1205A>G c.(1204-1206)CAT>CGT p.H402R CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Missense_Mutation_p.H402R|GNE_uc011lpl.1_Missense_Mutation_p.H292R|GNE_uc010mli.2_Missense_Mutation_p.H433R|GNE_uc010mlj.2_Missense_Mutation_p.H397R NM_005476 NP_005467 Q9Y223 GLCNE_HUMAN UDP-N-acetylglucosamine-2-epimerase/N- 402 UDP-N-acetylglucosamine 2-epimerase. cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity 0 STAD - Stomach adenocarcinoma(86;0.228) TTCAAGAATATGGTCAATATC 0.408 NA 7 102 0 0 0 0 USP9X 8239 broad.mit.edu 37 X 41000632 41000632 + Missense_Mutation SNP A A G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chrX:41000632A>G uc004dfb.2 + 9 1742 c.1109A>G c.(1108-1110)CAT>CGT p.H370R USP9X_uc004dfc.2_Missense_Mutation_p.H370R NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 370 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 TACTATACTCATCGACATGGT 0.353 NA 7 33 0 0 0 0 CACNA1F 778 broad.mit.edu 37 X 49065126 49065126 + Missense_Mutation SNP G G A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chrX:49065126G>A uc004dnb.2 - 43 5067 c.5005C>T c.(5005-5007)CCC>TCC p.P1669S CACNA1F_uc010nip.2_Missense_Mutation_p.P1658S NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, 1669 Cytoplasmic (Potential). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) CGAGCTGAGGGCTGGGAGACC 0.567 NA 3 55 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578222 7578223 + Frame_Shift_Del DEL TC TC - TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr17:7578222_7578223delTC uc002gim.2 - 6 820_821 c.626_627delGA c.(625-627)AGAfs p.R209fs TP53_uc002gig.1_Frame_Shift_Del_p.R209fs|TP53_uc002gih.2_Frame_Shift_Del_p.R209fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.R77fs|TP53_uc010cng.1_Frame_Shift_Del_p.R77fs|TP53_uc002gii.1_Frame_Shift_Del_p.R77fs|TP53_uc010cnh.1_Frame_Shift_Del_p.R209fs|TP53_uc010cni.1_Frame_Shift_Del_p.R209fs|TP53_uc002gij.2_Frame_Shift_Del_p.R209fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.R116fs|TP53_uc002gio.2_Frame_Shift_Del_p.R77fs|TP53_uc010vug.1_Frame_Shift_Del_p.R170fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 209 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> I (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> K (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.R209fs*6(31)|p.R209*(9)|p.0?(7)|p.R209T(3)|p.R209K(3)|p.R209fs*35(2)|p.D207fs*6(2)|p.R209fs*38(2)|p.K164_P219del(1)|p.E204_N210delEYLDDRN(1)|p.R209fs*36(1)|p.D207_R213delDDRNTFR(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.R209R(1)|p.R209S(1)|p.R209I(1)|p.R209_R213delRNTFR(1)|p.D207_V216del10(1)|p.R209fs*7(1)|p.R209fs*5(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) GAAAAGTGTTTCTGTCATCCAA 0.535 111 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) 19 87 --- --- --- --- NA NA NA NA CELSR1 9620 broad.mit.edu 37 22 46777939 46777939 + Frame_Shift_Del DEL G G - TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr22:46777939delG uc003bhw.1 - 21 6892 c.6892delC c.(6892-6894)CTGfs p.L2298fs CELSR1_uc011arc.1_Frame_Shift_Del_p.L619fs NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 2298 Extracellular (Potential). central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GGCCTCAGCAGGGGGCCTTCT 0.667 NA 2 4 --- --- --- --- NA NA NA NA