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 SDF4 51150 broad.mit.edu 37 1 1164118 1164118 + Missense_Mutation SNP G G A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr1:1164118G>A uc001adh.3 - 2 385 c.56C>T c.(55-57)GCT>GTT p.A19V SDF4_uc001adi.3_Missense_Mutation_p.A19V|SDF4_uc009vjv.2_Intron|SDF4_uc009vjw.2_RNA NM_016176 NP_057260 Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 isoform 2 19 cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis bleb|Golgi lumen|late endosome|soluble fraction calcium ion binding|calcium ion binding|identical protein binding|protein binding p.A19V(1) upper_aerodigestive_tract(1)|large_intestine(1) 2 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204) GCAGCACGGAGCCAGGCCAAT 0.692 NA 6 16 0 0 0 0 EPHA8 2046 broad.mit.edu 37 1 22902848 22902848 + Missense_Mutation SNP G G A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr1:22902848G>A uc001bfx.1 + 3 423 c.298G>A c.(298-300)GAG>AAG p.E100K EPHA8_uc001bfw.2_Missense_Mutation_p.E100K NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 100 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CGTCTATGCTGAGATCAAGTT 0.612 NA 11 54 0 0 0 0 COL16A1 1307 broad.mit.edu 37 1 32118423 32118423 + Missense_Mutation SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr1:32118423C>T uc001btk.1 - 71 5009 c.4644G>A c.(4642-4644)ATG>ATA p.M1548I COL16A1_uc001bti.1_Missense_Mutation_p.M162I|COL16A1_uc001btj.1_Missense_Mutation_p.M1346I NM_001856 NP_001847 Q07092 COGA1_HUMAN alpha 1 type XVI collagen precursor 1548 Triple-helical region 1 (COL1) with 2 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity ovary(8) 8 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) CTGTTGCACCCATCTTGCCAT 0.592 NA 9 25 0 0 0 0 C1orf173 127254 broad.mit.edu 37 1 75072310 75072310 + Silent SNP G G A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr1:75072310G>A uc001dgg.2 - 10 1683 c.1464C>T c.(1462-1464)GAC>GAT p.D488D uc001dgh.2_Intron|C1orf173_uc001dgi.3_Silent_p.D282D NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 488 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TTTCCTGGTCGTCTTCCAAGA 0.358 NA 70 50 0 0 0 0 LRRC8D 55144 broad.mit.edu 37 1 90398915 90398915 + Silent SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr1:90398915C>T uc001dnm.2 + 3 713 c.288C>T c.(286-288)AAC>AAT p.N96N LRRC8D_uc001dnn.2_Silent_p.N96N NM_001134479 NP_001127951 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member 96 integral to membrane protein binding ovary(2) 2 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) GGACAACAAACGACATTTCCT 0.498 NA 31 10 0 0 0 0 ABCD3 5825 broad.mit.edu 37 1 94953518 94953518 + Missense_Mutation SNP G G A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr1:94953518G>A uc001dqn.3 + 13 1238 c.1136G>A c.(1135-1137)CGT>CAT p.R379H ABCD3_uc010oto.1_Missense_Mutation_p.R403H|ABCD3_uc010otp.1_Missense_Mutation_p.R306H|ABCD3_uc009wdr.2_Intron|ABCD3_uc001dqo.3_Missense_Mutation_p.R67H NM_002858 NP_002849 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D, member 3 379 peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances skin(1) 1 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) TTGGCTGGGCGTGAAATGACT 0.323 NA 17 72 0 0 0 0 ZNF687 57592 broad.mit.edu 37 1 151260525 151260525 + Silent SNP G G A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr1:151260525G>A uc001exq.2 + 2 1856 c.1758G>A c.(1756-1758)AAG>AAA p.K586K ZNF687_uc001exp.1_Silent_p.K595K|ZNF687_uc009wmo.2_Silent_p.K586K|ZNF687_uc009wmp.2_Silent_p.K586K NM_020832 NP_065883 Q8N1G0 ZN687_HUMAN zinc finger protein 687 586 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding central_nervous_system(3)|ovary(1) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GTGAACACAAGGACAAGGGGC 0.607 NA 13 53 0 0 0 0 DARC 2532 broad.mit.edu 37 1 159175312 159175312 + Missense_Mutation SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr1:159175312C>T uc001fto.2 + 2 323 c.83C>T c.(82-84)TCT>TTT p.S28F DARC_uc001ftp.3_Missense_Mutation_p.S30F NM_002036 NP_002027 Q16570 DUFFY_HUMAN Duffy blood group antigen isoform b 28 Extracellular (Potential). defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity ovary(1)|lung(1) 2 all_hematologic(112;0.0429) GTATGGAATTCTTCCTATGGT 0.537 NA 11 54 0 0 0 0 NLRP3 114548 broad.mit.edu 37 1 247597516 247597516 + Silent SNP C C T rs143175395 TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr1:247597516C>T uc001icr.2 + 7 2577 c.2439C>T c.(2437-2439)TTC>TTT p.F813F NLRP3_uc001ics.2_Silent_p.F813F|NLRP3_uc001icu.2_Silent_p.F813F|NLRP3_uc001icw.2_Silent_p.F756F|NLRP3_uc001icv.2_Silent_p.F756F|NLRP3_uc010pyw.1_Silent_p.F791F NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 813 LRR 3. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TCGGTGACTTCGGAATCAGAC 0.567 NA 60 32 0 0 0 0 SFMBT2 57713 broad.mit.edu 37 10 7205769 7205769 + Missense_Mutation SNP C C G TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr10:7205769C>G uc009xio.1 - 21 2739 c.2648G>C c.(2647-2649)AGA>ACA p.R883T SFMBT2_uc001ijn.1_Missense_Mutation_p.R883T|SFMBT2_uc010qay.1_Missense_Mutation_p.R718T NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 883 SAM. regulation of transcription, DNA-dependent nucleus p.R883T(1) ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 CACTTTGACTCTCTCGATCTG 0.567 NA 8 23 0 0 0 0 CELF2 10659 broad.mit.edu 37 10 11308601 11308601 + Silent SNP G G A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr10:11308601G>A uc001iki.3 + 6 650 c.558G>A c.(556-558)CAG>CAA p.Q186Q CELF2_uc010qbi.1_Intron|CELF2_uc010qbj.1_Silent_p.Q186Q|CELF2_uc001ikk.2_Silent_p.Q193Q|CELF2_uc001ikl.3_Silent_p.Q193Q|CELF2_uc010qbk.1_Intron|CELF2_uc010qbl.1_Silent_p.Q162Q|CELF2_uc010qbm.1_Intron|CELF2_uc001iko.3_Silent_p.Q162Q|CELF2_uc001ikp.3_Silent_p.Q162Q|CELF2_uc010qbn.1_Silent_p.Q170Q|CELF2_uc010qbo.1_Silent_p.Q75Q|CELF2_uc010qbp.1_Intron NM_001025077 NP_001020248 O95319 CELF2_HUMAN CUG triplet repeat, RNA binding protein 2 186 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding 0 CAATGGCACAGAATGCAATCA 0.448 NA 11 20 0 0 0 0 CUBN 8029 broad.mit.edu 37 10 16962010 16962010 + Missense_Mutation SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr10:16962010C>T uc001ioo.2 - 44 6825 c.6773G>A c.(6772-6774)CGC>CAC p.R2258H NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2258 CUB 16. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity p.R2258H(1) ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CAGCTGTATGCGTGTTTCCGG 0.438 NA 8 26 0 0 0 0 ZNF488 118738 broad.mit.edu 37 10 48370659 48370659 + Missense_Mutation SNP C C T rs149252316 TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr10:48370659C>T uc001jex.2 + 2 289 c.127C>T c.(127-129)CGG>TGG p.R43W ZNF488_uc001jey.2_5'UTR NM_153034 NP_694579 Q96MN9 ZN488_HUMAN zinc finger protein 488 43 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGAGCTGGGCCGGGGCTGCAA 0.677 NA 13 64 0 0 0 0 PCDH15 65217 broad.mit.edu 37 10 55582486 55582486 + Missense_Mutation SNP G G T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr10:55582486G>T uc001jju.1 - 33 5395 c.5000C>A c.(4999-5001)CCT>CAT p.P1667H PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1664H|PCDH15_uc010qhw.1_Missense_Mutation_p.P1627H|PCDH15_uc010qhx.1_Missense_Mutation_p.P1598H|PCDH15_uc010qhy.1_Missense_Mutation_p.P1674H|PCDH15_uc010qhz.1_Missense_Mutation_p.P1669H|PCDH15_uc010qia.1_Missense_Mutation_p.P1647H|PCDH15_uc010qib.1_Missense_Mutation_p.P1644H NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1667 Cytoplasmic (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.P1674H(1)|p.P1667H(1) pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TGAGAAGTGAGGCCTGGGAAA 0.418 NA HNSCC(58;0.16) 37 38 7.83e-31 9.33e-31 1 0 RHOBTB1 9886 broad.mit.edu 37 10 62632017 62632017 + Missense_Mutation SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr10:62632017C>T uc001jli.2 - 11 2285 c.1847G>A c.(1846-1848)TGT>TAT p.C616Y RHOBTB1_uc001jlh.2_Missense_Mutation_p.C616Y|RHOBTB1_uc001jlj.2_Missense_Mutation_p.C616Y|RHOBTB1_uc001jlk.2_Missense_Mutation_p.C616Y|RHOBTB1_uc009xpe.1_Missense_Mutation_p.C554Y|RHOBTB1_uc009xpd.2_Intron|RHOBTB1_uc001jll.2_Missense_Mutation_p.C366Y NM_014836 NP_055651 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 616 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding upper_aerodigestive_tract(1) 1 Prostate(12;0.0112) GTGGTGCAAACACCAGGCGGC 0.468 NA 11 53 0 0 0 0 CYP2C19 1557 broad.mit.edu 37 10 96580294 96580294 + Missense_Mutation SNP G G T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr10:96580294G>T uc010qnz.1 + 6 861 c.861G>T c.(859-861)TTG>TTT p.L287F CYP2C19_uc010qny.1_Missense_Mutation_p.L265F NM_000769 NP_000760 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, 287 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity ovary(4)|central_nervous_system(1)|skin(1) 6 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TTGAAAACTTGGTAATCACTG 0.413 NA 12 56 6.4e-05 6.93e-05 1 0 FGFR2 2263 broad.mit.edu 37 10 123274743 123274743 + Missense_Mutation SNP A A G TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr10:123274743A>G uc010qtk.1 - 9 1822 c.1175T>C c.(1174-1176)GTG>GCG p.V392A FGFR2_uc010qtg.1_Missense_Mutation_p.V280A|FGFR2_uc010qth.1_Missense_Mutation_p.V277A|FGFR2_uc010qti.1_Missense_Mutation_p.V303A|FGFR2_uc010qtj.1_Missense_Mutation_p.V393A|FGFR2_uc010qtl.1_Intron|FGFR2_uc010qtm.1_Missense_Mutation_p.V277A|FGFR2_uc001lfl.3_Missense_Mutation_p.V393A|FGFR2_uc001lfm.2_Missense_Mutation_p.V304A|FGFR2_uc001lfn.3_RNA|FGFR2_uc001lfg.3_Missense_Mutation_p.V2A NM_000141 NP_000132 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 1 392 Helical; (Potential). angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding p.V392A(1) endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1) 96 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) GACTGTTACCACCATACAGGC 0.522 5 Mis gastric. NSCLC|endometrial Crouzon|Pfeiffer|and Apert syndromes Apert_syndrome|Saethre-Chotzen_syndrome 29 37 0 0 0 0 DCHS1 8642 broad.mit.edu 37 11 6648366 6648366 + Silent SNP A A G TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr11:6648366A>G uc001mem.1 - 14 6314 c.5904T>C c.(5902-5904)CGT>CGC p.R1968R NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 1968 Cadherin 19.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCGGGGCAGACGTAGGCGCA 0.612 NA 23 53 0 0 0 0 CPT1A 1374 broad.mit.edu 37 11 68566776 68566776 + Silent SNP C C T rs143731699 TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr11:68566776C>T uc001oog.3 - 6 773 c.603G>A c.(601-603)CGG>CGA p.R201R CPT1A_uc001oof.3_Silent_p.R201R|CPT1A_uc009ysj.2_Silent_p.R201R NM_001876 NP_001867 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A liver isoform 201 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity skin(2) 2 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) GTGCTGTCATCCGTTTGAAGT 0.393 NA 86 137 0 0 0 0 ATN1 1822 broad.mit.edu 37 12 7046142 7046142 + Missense_Mutation SNP C C A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr12:7046142C>A uc001qrw.1 + 5 1949 c.1712C>A c.(1711-1713)TCT>TAT p.S571Y ATN1_uc001qrx.1_Missense_Mutation_p.S571Y NM_001007026 NP_001007027 P54259 ATN1_HUMAN atrophin-1 571 Poly-Ser. cell death|central nervous system development cytoplasm|nucleus protein domain specific binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 GTCTCTTCCTCTTCCAACTCT 0.632 NA 15 80 1.15e-07 1.3e-07 1 0 GYS2 2998 broad.mit.edu 37 12 21692267 21692267 + Silent SNP G G A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr12:21692267G>A uc001rfb.2 - 15 2070 c.1815C>T c.(1813-1815)TAC>TAT p.Y605Y NM_021957 NP_068776 P54840 GYS2_HUMAN glycogen synthase 2 605 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity lung(1)|skin(1) 2 TGGCATGCTGGTAATACTATT 0.328 NA 49 94 0 0 0 0 OSBPL8 114882 broad.mit.edu 37 12 76767187 76767187 + Silent SNP A A G TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr12:76767187A>G uc001sye.1 - 18 2334 c.1854T>C c.(1852-1854)GTT>GTC p.V618V OSBPL8_uc001syf.1_Silent_p.V576V|OSBPL8_uc001syg.1_Silent_p.V576V|OSBPL8_uc001syh.1_Silent_p.V593V NM_020841 NP_065892 Q9BZF1 OSBL8_HUMAN oxysterol-binding protein-like protein 8 isoform 618 lipid transport lipid binding ovary(1) 1 ATATTTGATTAACACAGTCAC 0.294 NA 3 65 0 0 0 0 ZC3H13 23091 broad.mit.edu 37 13 46543408 46543408 + Missense_Mutation SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr13:46543408C>T uc010tfw.1 - 13 3277 c.3271G>A c.(3271-3273)GGT>AGT p.G1091S ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Missense_Mutation_p.G1091S|ZC3H13_uc001vat.1_Missense_Mutation_p.G1091S NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 1091 nucleic acid binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) GGGGTACTACCAGGAGTCGTG 0.378 NA 11 40 0 0 0 0 SUCLA2 8803 broad.mit.edu 37 13 48528631 48528631 + Missense_Mutation SNP G G C TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr13:48528631G>C uc001vbs.2 - 7 921 c.864C>G c.(862-864)ATC>ATG p.I288M SUCLA2_uc010tgb.1_Missense_Mutation_p.I228M|SUCLA2_uc010tgc.1_Missense_Mutation_p.I154M|SUCLA2_uc010tgd.1_Missense_Mutation_p.I228M|SUCLA2_uc001vbt.1_RNA NM_003850 NP_003841 Q9P2R7 SUCB1_HUMAN succinate-CoA ligase, ADP-forming, beta subunit 288 ATP-grasp. succinyl-CoA pathway|tricarboxylic acid cycle mitochondrial matrix ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity central_nervous_system(1) 1 all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;2.1e-06) Succinic acid(DB00139) GTAGATCAAAGATTTTCTTTT 0.393 NA 13 42 0 0 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453707 84453707 + Nonsense_Mutation SNP G G A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr13:84453707G>A uc001vlk.2 - 1 2822 c.1936C>T c.(1936-1938)CGA>TGA p.R646* NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 646 Cytoplasmic (Potential). integral to membrane p.R646*(1) ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GACCGCTTTCGGTTCCTCAGG 0.562 NA 10 15 0 0 0 0 RNASE12 493901 broad.mit.edu 37 14 21058491 21058491 + Missense_Mutation SNP A A T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr14:21058491A>T uc001vxt.2 - 1 492 c.392T>A c.(391-393)CTT>CAT p.L131H RNASE11_uc010ahv.2_5'Flank|RNASE11_uc010ahx.2_5'Flank|RNASE11_uc010ahw.2_5'Flank|RNASE11_uc001vxs.2_5'Flank|uc001vxu.1_5'Flank NM_001024822 NP_001019993 Q5GAN4 RNS12_HUMAN ribonuclease, RNase A family, 12 (non-active) 131 extracellular region nucleic acid binding|pancreatic ribonuclease activity p.L131H(1) upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(95;0.00238) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.013) ACAAGTGACAAGAACAAACCC 0.463 NA 41 57 0 0 0 0 ACTC1 70 broad.mit.edu 37 15 35084363 35084363 + Missense_Mutation SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr15:35084363C>T uc001ziu.1 - 5 979 c.736G>A c.(736-738)GAT>AAT p.D246N uc001zit.1_Intron NM_005159 NP_005150 P68032 ACTC_HUMAN cardiac muscle alpha actin 1 proprotein 246 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding p.D246N(1) upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) ACTTGGCCATCAGGCAGTTCA 0.522 NA 6 34 0 0 0 0 CYP11A1 1583 broad.mit.edu 37 15 74630346 74630346 + Silent SNP G G A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr15:74630346G>A uc002axt.2 - 9 1688 c.1533C>T c.(1531-1533)TTC>TTT p.F511F CYP11A1_uc002axs.2_Silent_p.F353F|CYP11A1_uc010bjm.1_Silent_p.F353F|CYP11A1_uc010bjn.1_RNA|CYP11A1_uc010bjo.1_Silent_p.F429F NM_000781 NP_000772 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, 511 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding ovary(2) 2 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) TAAAGGGCCAGAAGGTGAAGG 0.552 NA 13 33 0 0 0 0 MPG 4350 broad.mit.edu 37 16 129429 129429 + Silent SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr16:129429C>T uc002cfn.2 + 3 363 c.45C>T c.(43-45)TGC>TGT p.C15C MPG_uc002cfm.2_5'UTR|MPG_uc010bqp.2_5'UTR|MPG_uc002cfo.2_Silent_p.C10C NM_002434 NP_002425 P29372 3MG_HUMAN N-methylpurine-DNA glycosylase isoform a 15 depurination|DNA dealkylation involved in DNA repair nucleoplasm alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding ovary(1)|skin(1) 2 all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239) TACAGTTTTGCCGACGGATGG 0.547 NA BER_DNA_glycosylases 3 49 0 0 0 0 HN1L 90861 broad.mit.edu 37 16 1747824 1747824 + Missense_Mutation SNP C C G TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr16:1747824C>G uc002cmg.2 + 4 384 c.348C>G c.(346-348)TTC>TTG p.F116L HN1L_uc010uvi.1_Missense_Mutation_p.F144L|HN1L_uc010brt.2_RNA|HN1L_uc010bru.2_Missense_Mutation_p.L69V|HN1L_uc010uvj.1_Missense_Mutation_p.L97V|HN1L_uc010uvk.1_Missense_Mutation_p.F103L NM_144570 NP_653171 Q9H910 HN1L_HUMAN hematological and neurological expressed 1-like 116 cytoplasm|nucleus p.F116L(1) upper_aerodigestive_tract(1) 1 ATCATGTTTTCTTATGTGAAG 0.393 NA 28 80 0 0 0 0 ALG1 56052 broad.mit.edu 37 16 5123195 5123195 + Missense_Mutation SNP C C G TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr16:5123195C>G uc002cym.2 + 3 369 c.328C>G c.(328-330)CAG>GAG p.Q110E ALG1_uc002cyj.2_5'UTR|ALG1_uc002cyn.2_Missense_Mutation_p.Q110E|ALG1_uc010bue.2_5'UTR|ALG1_uc010uxy.1_5'UTR NM_019109 NP_061982 Q9BT22 ALG1_HUMAN beta-1,4-mannosyltransferase 110 Lumenal (Potential). dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane chitobiosyldiphosphodolichol beta-mannosyltransferase activity p.Q110E(1) upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(90;0.0164) AGTTGTACTTCAGGCTATGTA 0.517 NA 9 38 0 0 0 0 GRIN2A 2903 broad.mit.edu 37 16 10273897 10273897 + Silent SNP G G A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr16:10273897G>A uc002czo.3 - 2 920 c.372C>T c.(370-372)ATC>ATT p.I124I GRIN2A_uc010uym.1_Silent_p.I124I|GRIN2A_uc002czr.3_Silent_p.I124I|GRIN2A_uc010buk.2_Silent_p.I124I NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 124 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) GAATGCCCAAGATGGGGACGA 0.612 NA 12 27 0 0 0 0 LOC81691 81691 broad.mit.edu 37 16 20856517 20856517 + Missense_Mutation SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr16:20856517C>T uc002dhv.2 + 18 2341 c.2078C>T c.(2077-2079)CCA>CTA p.P693L ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Missense_Mutation_p.P662L|LOC81691_uc002dhw.2_Missense_Mutation_p.P436L|LOC81691_uc002dhy.3_Missense_Mutation_p.P693L NM_030941 NP_112203 Q96IC2 REXON_HUMAN exonuclease NEF-sp isoform 1 693 nucleolus exonuclease activity|nucleotide binding|RNA binding ovary(1)|kidney(1) 2 ACAAGGCTCCCAGGGCTTCGT 0.577 NA 4 13 0 0 0 0 CDH16 1014 broad.mit.edu 37 16 66950205 66950205 + Missense_Mutation SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr16:66950205C>T uc002eql.2 - 4 330 c.257G>A c.(256-258)CGA>CAA p.R86Q CDH16_uc010cdy.2_Missense_Mutation_p.R86Q|CDH16_uc002eqm.2_Missense_Mutation_p.R86Q NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 86 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R86Q(1) ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) CTGCTCCTCTCGGTCCAGGGC 0.622 NA 18 31 0 0 0 0 CHST6 4166 broad.mit.edu 37 16 75513510 75513510 + Missense_Mutation SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr16:75513510C>T uc002fef.2 - 3 397 c.217G>A c.(217-219)GCG>ACG p.A73T CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.A73T NM_021615 NP_067628 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) 73 Lumenal (Potential). keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 ACGTGCCACGCGGGCTCCATT 0.662 NA 12 19 0 0 0 0 TMEM93 83460 broad.mit.edu 37 17 3572587 3572587 + Silent SNP C C G rs1148572 TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr17:3572587C>G uc002fwf.1 + 2 300 c.147C>G c.(145-147)CTC>CTG p.L49L TAX1BP3_uc002fwc.2_5'Flank|P2RX5_uc002fwd.2_RNA|TAX1BP3_uc002fwe.1_5'Flank|TMEM93_uc002fwg.1_Silent_p.L49L|P2RX5_uc002fwh.1_3'UTR NM_031298 NP_112588 Q9BV81 TMM93_HUMAN transmembrane protein 93 49 Helical; (Potential). integral to membrane 0 TCACCGGCCTCTACGGCTTCA 0.637 NA 11 30 0 0 0 0 NLGN2 57555 broad.mit.edu 37 17 7319416 7319416 + Missense_Mutation SNP G G A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr17:7319416G>A uc002ggt.1 + 6 1697 c.1624G>A c.(1624-1626)GCC>ACC p.A542T NM_020795 NP_065846 Q8NFZ4 NLGN2_HUMAN neuroligin 2 precursor 542 Extracellular (Potential). cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity central_nervous_system(1) 1 Prostate(122;0.157) GACCAACTTCGCCAAGACTGG 0.517 NA 12 25 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7576853 7576853 + Silent SNP C C T rs11575996 TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr17:7576853C>T uc002gim.2 - 9 1187 c.993G>A c.(991-993)CAG>CAA p.Q331Q TP53_uc002gig.1_Intron|TP53_uc002gih.2_Silent_p.Q331Q|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Silent_p.Q199Q|TP53_uc010cng.1_Silent_p.Q199Q|TP53_uc002gii.1_Silent_p.Q199Q|TP53_uc010cnh.1_Silent_p.Q331Q|TP53_uc010cni.1_Silent_p.Q331Q|TP53_uc002gij.2_Silent_p.Q331Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 331 Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2. Q -> R (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> H (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.Q331*(14)|p.0?(7)|p.Q331P(3)|p.Q331fs*6(1)|p.I332fs*49(1)|p.?(1)|p.Q331Q(1)|p.Q331R(1)|p.Q331H(1)|p.Q331fs*14(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) GACTTAGTACCTGAAGGGTGA 0.453 111 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) 18 41 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577082 7577082 + Missense_Mutation SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr17:7577082C>T uc002gim.2 - 8 1050 c.856G>A c.(856-858)GAA>AAA p.E286K TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E286K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E154K|TP53_uc010cng.1_Missense_Mutation_p.E154K|TP53_uc002gii.1_Missense_Mutation_p.E154K|TP53_uc010cnh.1_Missense_Mutation_p.E286K|TP53_uc010cni.1_Missense_Mutation_p.E286K|TP53_uc002gij.2_Missense_Mutation_p.E286K NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 286 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> V (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> G (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in LFS; germline mutation and 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.E286K(52)|p.E286*(14)|p.E286G(14)|p.0?(7)|p.E286V(6)|p.E286Q(5)|p.?(2)|p.E286D(2)|p.E286E(2)|p.R283fs*16(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.E286A(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.E285_L289delEEENL(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) AGATTCTCTTCCTCTGTGCGC 0.557 111 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) 22 20 0 0 0 0 SEZ6 124925 broad.mit.edu 37 17 27287979 27287979 + Missense_Mutation SNP C C G TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr17:27287979C>G uc002hdp.2 - 6 1447 c.1253G>C c.(1252-1254)GGA>GCA p.G418A SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.G418A|SEZ6_uc002hdq.1_Missense_Mutation_p.G293A NM_178860 NP_849191 Q53EL9 SEZ6_HUMAN seizure related 6 homolog isoform 1 418 Extracellular (Potential).|CUB 1. integral to membrane|plasma membrane large_intestine(1)|central_nervous_system(1) 2 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) GCGGATCACTCCGCCGCAAGC 0.607 NA 23 113 0 0 0 0 GAS2L2 246176 broad.mit.edu 37 17 34079822 34079822 + Silent SNP C C A rs147495893 by1000genomes TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr17:34079822C>A uc002hjv.1 - 1 76 c.48G>T c.(46-48)CCG>CCT p.P16P NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 16 cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGCACACAGGCGGCCCTAGGG 0.657 NA 16 51 9.17e-09 1.04e-08 1 0 G6PC3 92579 broad.mit.edu 37 17 42148497 42148497 + Missense_Mutation SNP T T C TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr17:42148497T>C uc002iex.2 + 1 380 c.164T>C c.(163-165)ATC>ACC p.I55T G6PC3_uc002iey.2_5'UTR|G6PC3_uc010czo.2_5'UTR|G6PC3_uc002iez.2_5'UTR|G6PC3_uc002ifa.1_Missense_Mutation_p.I55T NM_138387 NP_612396 Q9BUM1 G6PC3_HUMAN glucose-6-phosphatase catalytic subunit 3 55 Helical; (Potential). gluconeogenesis|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity skin(1) 1 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.113) CGTGTGGGCATCGCGGTGCTC 0.612 NA 10 26 0 0 0 0 SLC25A39 51629 broad.mit.edu 37 17 42397759 42397759 + Missense_Mutation SNP G G A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr17:42397759G>A uc002ign.2 - 10 1001 c.847C>T c.(847-849)CGC>TGC p.R283C SLC25A39_uc002igm.2_Missense_Mutation_p.R275C|SLC25A39_uc002igo.2_Missense_Mutation_p.R275C|SLC25A39_uc010wiw.1_Missense_Mutation_p.R260C|SLC25A39_uc010czu.2_Missense_Mutation_p.R151C NM_001143780 NP_001137252 Q9BZJ4 S2539_HUMAN solute carrier family 25, member 39 isoform a 283 Solcar 3. heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane p.R275C(1) upper_aerodigestive_tract(1) 1 Prostate(33;0.0233) BRCA - Breast invasive adenocarcinoma(366;0.189) GCGACCTGGCGTTGGGTCTTT 0.652 NA 29 21 0 0 0 0 BAHCC1 57597 broad.mit.edu 37 17 79409052 79409052 + Missense_Mutation SNP G G A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr17:79409052G>A uc002kaf.2 + 3 677 c.677G>A c.(676-678)AGA>AAA p.R226K BAHCC1_uc002kae.2_5'Flank NM_001080519 NP_001073988 Q9P281 BAHC1_HUMAN BAH domain and coiled-coil containing 1 226 DNA binding ovary(1) 1 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116) GAGCTGGGCAGAGAGAAGGCG 0.692 NA 6 22 0 0 0 0 LAMA1 284217 broad.mit.edu 37 18 7044739 7044739 + Missense_Mutation SNP A A G TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr18:7044739A>G uc002knm.2 - 7 1052 c.958T>C c.(958-960)TCC>CCC p.S320P LAMA1_uc010wzj.1_5'UTR NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 320 Laminin EGF-like 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTATTGCCGGAGGACACGGTT 0.468 NA 22 120 0 0 0 0 C19orf21 126353 broad.mit.edu 37 19 758639 758639 + Missense_Mutation SNP C C T rs138693251 TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr19:758639C>T uc002lpo.2 + 2 1776 c.1693C>T c.(1693-1695)CGG>TGG p.R565W NM_173481 NP_775752 Q8IVT2 CS021_HUMAN hypothetical protein LOC126353 565 Potential. p.R565W(1) upper_aerodigestive_tract(1) 1 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCAGAGGAGCGGAGAAATGC 0.607 NA 25 42 0 0 0 0 C19orf29 58509 broad.mit.edu 37 19 3613305 3613305 + Missense_Mutation SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr19:3613305C>T uc002lyh.2 - 9 1590 c.1537G>A c.(1537-1539)GCG>ACG p.A513T C19orf29_uc010xho.1_5'UTR|C19orf29_uc010dtn.2_Missense_Mutation_p.A361T|C19orf29_uc002lyi.3_Missense_Mutation_p.A513T|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA NM_001080543 NP_001074012 Q8WUQ7 CS029_HUMAN chromosome 19 open reading frame 29 513 catalytic step 2 spliceosome protein binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) TCGGCCTCCGCGGGGCCGCCC 0.781 NA 8 9 0 0 0 0 DPP9 91039 broad.mit.edu 37 19 4679886 4679886 + Silent SNP G G A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr19:4679886G>A uc002mba.2 - 21 2805 c.2547C>T c.(2545-2547)GTC>GTT p.V849V NM_139159 NP_631898 Q86TI2 DPP9_HUMAN dipeptidylpeptidase 9 820 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) TCAGTTGGGAGACGAGGAAGT 0.602 NA 3 11 0 0 0 0 ZNRF4 148066 broad.mit.edu 37 19 5455843 5455843 + Missense_Mutation SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr19:5455843C>T uc002mca.3 + 1 418 c.341C>T c.(340-342)GCG>GTG p.A114V NM_181710 NP_859061 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 precursor 114 Extracellular (Potential). integral to membrane zinc ion binding large_intestine(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) GTGGACTTTGCGGATCTGCCG 0.667 NA 4 109 0 0 0 0 ACTL9 284382 broad.mit.edu 37 19 8807822 8807822 + Silent SNP G G A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr19:8807822G>A uc002mkl.2 - 1 1351 c.1230C>T c.(1228-1230)ATC>ATT p.I410I NM_178525 NP_848620 Q8TC94 ACTL9_HUMAN actin-like 9 410 cytoplasm|cytoskeleton large_intestine(2)|pancreas(1) 3 TGCGGTACACGATATAGGGAC 0.632 NA 21 36 0 0 0 0 OR7D2 162998 broad.mit.edu 37 19 9296557 9296557 + Missense_Mutation SNP A A G TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr19:9296557A>G uc002mkz.1 + 1 288 c.100A>G c.(100-102)ATG>GTG p.M34V NM_175883 NP_787079 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, 34 Helical; Name=1; (Potential). regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M34V(1) ovary(2)|upper_aerodigestive_tract(1) 3 GTTCCTGTCCATGTACCTGGT 0.512 NA 3 27 0 0 0 0 ZNF653 115950 broad.mit.edu 37 19 11598501 11598501 + Silent SNP G G T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr19:11598501G>T uc002mrz.1 - 4 830 c.777C>A c.(775-777)ACC>ACA p.T259T NM_138783 NP_620138 Q96CK0 ZN653_HUMAN zinc finger protein 653 259 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGCACAGCGGGGTACCCTGCT 0.682 NA 26 47 8.25e-16 9.59e-16 1 0 ZNF708 7562 broad.mit.edu 37 19 21493405 21493405 + Missense_Mutation SNP C C A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr19:21493405C>A uc002npq.1 - 2 226 c.28G>T c.(28-30)GCC>TCC p.A10S ZNF708_uc002npr.1_Intron|ZNF708_uc010ecs.1_Intron NM_021269 NP_067092 P17019 ZN708_HUMAN zinc finger protein 708 10 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(4)|skin(2) 6 AATTCTATGGCCACATCCATA 0.388 NA 28 45 1.51e-07 1.69e-07 1 0 ZNF534 147658 broad.mit.edu 37 19 52941603 52941603 + Missense_Mutation SNP C C A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr19:52941603C>A uc002pzk.2 + 4 990 c.929C>A c.(928-930)CCT>CAT p.P310H ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.P297H NM_001143939 NP_001137411 Q76KX8 ZN534_HUMAN zinc finger protein 534 isoform 2 310 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGAGAGAAGCCTTACAAATGT 0.393 NA 5 28 0.000602214 0.000640273 1 0 CYP1B1 1545 broad.mit.edu 37 2 38301497 38301497 + Silent SNP G G A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr2:38301497G>A uc002rqo.2 - 3 1438 c.1035C>T c.(1033-1035)CTC>CTT p.L345L NM_000104 NP_000095 Q16678 CP1B1_HUMAN cytochrome P450, family 1, subfamily B, 345 L -> F (in POAG). visual perception|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding ovary(1)|central_nervous_system(1) 2 all_hematologic(82;0.21) Estrone(DB00655) ACCTGGTGAAGAGGAGGAGCA 0.602 NA 6 16 0 0 0 0 SMYD5 10322 broad.mit.edu 37 2 73447180 73447180 + Silent SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr2:73447180C>T uc002siw.2 + 3 236 c.207C>T c.(205-207)GCC>GCT p.A69A SMYD5_uc010yre.1_Intron|SMYD5_uc002six.1_5'Flank NM_006062 NP_006053 Q6GMV2 SMYD5_HUMAN SMYD family member 5 69 metal ion binding 0 CACCGTCAGCCTGTGACCACT 0.483 NA 20 27 0 0 0 0 SEMA4F 10505 broad.mit.edu 37 2 74902408 74902408 + Silent SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr2:74902408C>T uc002sna.1 + 10 1380 c.1269C>T c.(1267-1269)GGC>GGT p.G423G SEMA4F_uc010ffq.1_Silent_p.G390G|SEMA4F_uc010ffr.1_Silent_p.G35G|SEMA4F_uc002snb.1_Silent_p.G35G|SEMA4F_uc002snc.1_Silent_p.G268G NM_004263 NP_004254 O95754 SEM4F_HUMAN semaphorin W precursor 423 Sema.|Extracellular (Potential). cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity ovary(2)|pancreas(1)|skin(1) 4 CAGCTGATGGCCACCCCCTGC 0.587 NA OREG0014721 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 25 0 0 0 0 NEB 4703 broad.mit.edu 37 2 152539188 152539188 + Silent SNP G G A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr2:152539188G>A uc010fnx.2 - 29 3122 c.2931C>T c.(2929-2931)GAC>GAT p.D977D NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 977 Nebulin 23. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) CATTGAGGATGTCTGAAGCTC 0.468 NA 13 10 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179642181 179642181 + Silent SNP G G T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr2:179642181G>T uc010zfg.1 - 26 4835 c.4611C>A c.(4609-4611)GGC>GGA p.G1537G TTN_uc010zfh.1_Silent_p.G1491G|TTN_uc010zfi.1_Silent_p.G1491G|TTN_uc010zfj.1_Silent_p.G1491G|TTN_uc002unb.2_Silent_p.G1537G|uc002unc.1_RNA NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1537 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) TTGAAGATCTGCCTGCCCTGT 0.363 NA 10 25 6.43e-13 7.35e-13 1 0 TTN 7273 broad.mit.edu 37 2 179647599 179647599 + Nonsense_Mutation SNP G G A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr2:179647599G>A uc010zfg.1 - 18 3258 c.3034C>T c.(3034-3036)CGA>TGA p.R1012* TTN_uc010zfh.1_Nonsense_Mutation_p.R966*|TTN_uc010zfi.1_Nonsense_Mutation_p.R966*|TTN_uc010zfj.1_Nonsense_Mutation_p.R966*|TTN_uc002unb.2_Nonsense_Mutation_p.R1012* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1012 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R1012*(2) 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) CAAGTAAATCGCCCGCTGTCT 0.502 NA 20 29 0 0 0 0 PER2 8864 broad.mit.edu 37 2 239180022 239180022 + Missense_Mutation SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr2:239180022C>T uc002vyc.2 - 6 940 c.703G>A c.(703-705)GAT>AAT p.D235N PER2_uc010znv.1_Missense_Mutation_p.D235N|PER2_uc010znw.1_Missense_Mutation_p.D235N|PER2_uc010fyx.1_Missense_Mutation_p.D235N NM_022817 NP_073728 O15055 PER2_HUMAN period 2 235 PAS 1. circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity upper_aerodigestive_tract(1)|breast(1) 2 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) ACGCCCACATCGTGAGGCGCC 0.522 NA 19 64 0 0 0 0 SCRT2 85508 broad.mit.edu 37 20 644433 644433 + Missense_Mutation SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr20:644433C>T uc002wec.2 - 2 1384 c.806G>A c.(805-807)CGC>CAC p.R269H SRXN1_uc002web.2_Intron NM_033129 NP_149120 Q9NQ03 SCRT2_HUMAN scratch 2 protein 269 C2H2-type 5; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTGGCGGCAGCGGTAGTGCTT 0.701 NA 7 6 0 0 0 0 DSCAM 1826 broad.mit.edu 37 21 41719759 41719759 + Missense_Mutation SNP T T C TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr21:41719759T>C uc002yyq.1 - 6 1500 c.1048A>G c.(1048-1050)AAT>GAT p.N350D DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 350 Extracellular (Potential).|Ig-like C2-type 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ATTTCACCATTGCGGTACCAG 0.502 NA 5 129 0 0 0 0 EFCAB6 64800 broad.mit.edu 37 22 44004470 44004470 + Missense_Mutation SNP T T C TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr22:44004470T>C uc003bdy.1 - 22 2788 c.2573A>G c.(2572-2574)GAA>GGA p.E858G EFCAB6_uc003bdz.1_Missense_Mutation_p.E706G|EFCAB6_uc010gzi.1_Missense_Mutation_p.E706G|EFCAB6_uc010gzj.1_Intron NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 858 EF-hand 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding p.E858G(1) ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) ATTATCGGTTTCTAGAAAATT 0.403 NA 12 34 0 0 0 0 SETD5 55209 broad.mit.edu 37 3 9489625 9489625 + Missense_Mutation SNP A A G TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr3:9489625A>G uc003brt.2 + 15 2473 c.2038A>G c.(2038-2040)ACT>GCT p.T680A SETD5_uc003brs.1_Missense_Mutation_p.T661A|SETD5_uc003bru.2_Missense_Mutation_p.T582A|SETD5_uc003brv.2_Missense_Mutation_p.T569A|SETD5_uc010hck.2_Missense_Mutation_p.T162A|SETD5_uc003brx.2_Missense_Mutation_p.T349A NM_001080517 NP_001073986 Q9C0A6 SETD5_HUMAN SET domain containing 5 680 ovary(2) 2 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) GTCTGACCCAACTGTGGTGTC 0.443 NA 2 10 0 0 0 0 ITIH1 3697 broad.mit.edu 37 3 52819104 52819104 + Silent SNP T T C TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr3:52819104T>C uc003dfs.2 + 12 1476 c.1452T>C c.(1450-1452)GAT>GAC p.D484D ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Silent_p.D85D|ITIH1_uc010hmo.1_Silent_p.D38D|ITIH1_uc003dfu.2_5'Flank NM_002215 NP_002206 P19827 ITIH1_HUMAN inter-alpha (globulin) inhibitor H1 484 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) TGGATGTGGATTTGCAGTACC 0.562 NA 22 44 0 0 0 0 TMPRSS7 344805 broad.mit.edu 37 3 111794206 111794206 + Missense_Mutation SNP G G C TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr3:111794206G>C uc010hqb.2 + 13 1614 c.1444G>C c.(1444-1446)GGA>CGA p.G482R TMPRSS7_uc011bhr.1_Missense_Mutation_p.G337R NM_001042575 NP_001036040 Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 608 Extracellular (Potential).|Peptidase S1. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity ovary(1)|kidney(1) 2 CCGCATCATCGGAGGCACAGA 0.552 NA 7 180 0 0 0 0 CHST2 9435 broad.mit.edu 37 3 142841109 142841109 + Missense_Mutation SNP G G A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr3:142841109G>A uc003evm.2 + 2 2340 c.1451G>A c.(1450-1452)CGG>CAG p.R484Q NM_004267 NP_004258 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) 484 Lumenal (Potential). inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity ovary(3) 3 AATGCCTGGCGGACCGCCCTC 0.612 NA 6 67 0 0 0 0 TTC14 151613 broad.mit.edu 37 3 180322057 180322057 + Silent SNP G G A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr3:180322057G>A uc003fkk.2 + 4 663 c.531G>A c.(529-531)GGG>GGA p.G177G TTC14_uc003fkl.2_Silent_p.G177G|TTC14_uc003fkm.2_Silent_p.G177G NM_133462 NP_597719 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 isoform a 177 S1 motif. RNA binding ovary(1) 1 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) GTAACCATGGGGATCCTTTAT 0.323 NA 66 56 0 0 0 0 C3orf21 152002 broad.mit.edu 37 3 194947478 194947478 + Silent SNP G G A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr3:194947478G>A uc003fum.3 - 2 720 c.612C>T c.(610-612)ATC>ATT p.I204I C3orf21_uc011bsw.1_Silent_p.I58I NM_152531 NP_689744 Q8NBI6 CC021_HUMAN hypothetical protein LOC152002 204 integral to membrane transferase activity, transferring glycosyl groups 0 all_cancers(143;9.33e-09)|Ovarian(172;0.0634) Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146) GBM - Glioblastoma multiforme(46;1.36e-05) AGAGGAAGAAGATGGAGTCAC 0.537 NA 8 67 0 0 0 0 RNF168 165918 broad.mit.edu 37 3 196199094 196199094 + Missense_Mutation SNP C C G TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr3:196199094C>G uc003fwq.2 - 6 1850 c.1312G>C c.(1312-1314)GAG>CAG p.E438Q RNF168_uc010iah.2_Missense_Mutation_p.E271Q|uc010iag.1_5'Flank NM_152617 NP_689830 Q8IYW5 RN168_HUMAN ring finger protein 168 438 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding 0 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) TTATGTCTCTCAAACAGTAGA 0.413 NA 48 195 0 0 0 0 GUF1 60558 broad.mit.edu 37 4 44688655 44688655 + Missense_Mutation SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr4:44688655C>T uc003gww.3 + 8 1070 c.863C>T c.(862-864)TCT>TTT p.S288F GUF1_uc010ifz.1_RNA NM_021927 NP_068746 Q8N442 GUF1_HUMAN GUF1 GTPase homolog 288 translation mitochondrial inner membrane GTP binding|GTPase activity p.S288F(1) upper_aerodigestive_tract(1) 1 AAAATTGTATCTGCACATACT 0.363 NA 15 90 0 0 0 0 USP53 54532 broad.mit.edu 37 4 120213723 120213723 + Missense_Mutation SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr4:120213723C>T uc003ics.3 + 18 3645 c.2579C>T c.(2578-2580)TCT>TTT p.S860F USP53_uc003icr.3_Missense_Mutation_p.S860F|USP53_uc003icu.3_Missense_Mutation_p.S483F NM_019050 NP_061923 Q70EK8 UBP53_HUMAN ubiquitin specific protease 53 860 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity ovary(1)|breast(1)|kidney(1)|skin(1) 4 AATGAACCATCTTCATTATGG 0.388 NA 18 42 0 0 0 0 FAT4 79633 broad.mit.edu 37 4 126240974 126240974 + Missense_Mutation SNP G G C TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr4:126240974G>C uc003ifj.3 + 1 3408 c.3408G>C c.(3406-3408)AGG>AGC p.R1136S NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1136 Cadherin 11.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GAGAAGTAAGGTATTCTTTTG 0.433 NA 29 131 0 0 0 0 KIAA0922 23240 broad.mit.edu 37 4 154542878 154542878 + Missense_Mutation SNP G G C TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr4:154542878G>C uc003inm.3 + 28 3785 c.3733G>C c.(3733-3735)GAG>CAG p.E1245Q KIAA0922_uc010ipp.2_Missense_Mutation_p.E1246Q|KIAA0922_uc010ipq.2_Missense_Mutation_p.E1014Q NM_015196 NP_056011 A2VDJ0 T131L_HUMAN hypothetical protein LOC23240 isoform 2 1245 Cytoplasmic (Potential). integral to membrane p.E1098Q(1) upper_aerodigestive_tract(1)|ovary(1) 2 all_hematologic(180;0.093) Renal(120;0.118) CAGTGACTTTGAGAGGTCTGA 0.428 NA 7 27 0 0 0 0 ATG10 83734 broad.mit.edu 37 5 81549160 81549160 + Silent SNP G G C TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr5:81549160G>C uc003khs.2 + 8 1008 c.579G>C c.(577-579)CTG>CTC p.L193L ATG10_uc003khr.2_Silent_p.L193L|ATG10_uc010jas.2_Silent_p.L157L NM_001131028 NP_001124500 Q9H0Y0 ATG10_HUMAN APG10 autophagy 10-like 193 autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport cytoplasm Atg12 ligase activity|protein binding 0 Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30) CATCATGGCTGAGCATTGTAG 0.413 NA 14 57 0 0 0 0 IL3 3562 broad.mit.edu 37 5 131398259 131398259 + Missense_Mutation SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr5:131398259C>T uc003kwe.1 + 4 388 c.335C>T c.(334-336)ACG>ATG p.T112M NM_000588 NP_000579 P08700 IL3_HUMAN interleukin 3 precursor 112 cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein extracellular space cytokine activity|growth factor activity|interleukin-3 receptor binding ovary(2)|central_nervous_system(1) 3 all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105) Amlexanox(DB01025) GCCGCACCCACggtaagctgt 0.308 NA OREG0016762 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 137 0 0 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559041 140559041 + Missense_Mutation SNP G G A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr5:140559041G>A uc011dai.1 + 1 1612 c.1426G>A c.(1426-1428)GCC>ACC p.A476T PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 476 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGCGTCAGCGCCACAGACAG 0.657 NA 18 122 0 0 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140755613 140755613 + Missense_Mutation SNP T T G TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr5:140755613T>G uc003ljy.1 + 1 1963 c.1963T>G c.(1963-1965)TCC>GCC p.S655A 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_uc011dau.1_Missense_Mutation_p.S655A NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 655 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCCCTCTCTCCGCCACTGT 0.706 NA 11 33 0 0 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140764535 140764535 + Missense_Mutation SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr5:140764535C>T uc003lka.1 + 1 2069 c.2069C>T c.(2068-2070)ACG>ATG p.T690M 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|PCDHGB4_uc003lkc.1_5'Flank|PCDHGA7_uc003ljz.1_Missense_Mutation_p.T690M|PCDHGB4_uc011dav.1_5'Flank NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 690 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) TATGACCTCACGTTGTACCTG 0.632 NA 27 27 0 0 0 0 GABRG2 2566 broad.mit.edu 37 5 161569195 161569195 + Nonsense_Mutation SNP C C G TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr5:161569195C>G uc003lyz.3 + 7 1153 c.795C>G c.(793-795)TAC>TAG p.Y265* GABRG2_uc010jjc.2_Nonsense_Mutation_p.Y305*|GABRG2_uc003lyy.3_Nonsense_Mutation_p.Y265*|GABRG2_uc011dej.1_Nonsense_Mutation_p.Y170* NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 265 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) TGTCTGTCTACTTTGATCTGA 0.403 NA 4 128 0 0 0 0 WWC1 23286 broad.mit.edu 37 5 167896016 167896016 + Silent SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr5:167896016C>T uc003lzu.2 + 23 3429 c.3336C>T c.(3334-3336)GAC>GAT p.D1112D WWC1_uc003lzv.2_Silent_p.D1117D|WWC1_uc011den.1_Silent_p.D1118D|WWC1_uc003lzw.2_Silent_p.D910D NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 isoform 3 1112 ADDV motif.|Interaction with histone H3. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity ovary(2)|skin(2)|breast(1) 5 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) CTGCAGATGACGTCTAATCGC 0.418 NA 8 24 0 0 0 0 GRM6 2916 broad.mit.edu 37 5 178416069 178416069 + Silent SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr5:178416069C>T uc003mjr.2 - 6 1400 c.1221G>A c.(1219-1221)GCG>GCA p.A407A GRM6_uc010jla.1_Intron|GRM6_uc003mjs.1_Silent_p.A27A NM_000843 NP_000834 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 precursor 407 Extracellular (Potential). detection of visible light|visual perception integral to plasma membrane lung(4)|ovary(2)|breast(1)|pancreas(1) 8 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) TGGCGTACACCGCATCAATCA 0.647 NA 4 17 0 0 0 0 GRM4 2914 broad.mit.edu 37 6 34101144 34101144 + Missense_Mutation SNP G G A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr6:34101144G>A uc003oir.3 - 1 300 c.130C>T c.(130-132)CGC>TGC p.R44C GRM4_uc011dsn.1_Missense_Mutation_p.R44C|GRM4_uc010jvh.2_Missense_Mutation_p.R44C|GRM4_uc010jvi.2_5'UTR|GRM4_uc010jvk.1_Intron NM_000841 NP_000832 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 precursor 44 Extracellular (Potential). activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.R44C(2) lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 6 L-Glutamic Acid(DB00142) CCATCTATGCGGATGGAATTC 0.612 NA 9 27 0 0 0 0 GPR116 221395 broad.mit.edu 37 6 46846093 46846093 + Silent SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr6:46846093C>T uc003oyo.3 - 10 1375 c.1086G>A c.(1084-1086)AAG>AAA p.K362K GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Silent_p.K362K|GPR116_uc010jzi.1_Silent_p.K34K|GPR116_uc003oyr.2_Silent_p.K362K NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 362 Ig-like 1.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|skin(1) 2 Lung(136;0.192) CTATTTTCTTCTTGCACTCAT 0.328 NA 9 35 0 0 0 0 HCRTR2 3062 broad.mit.edu 37 6 55113499 55113499 + Missense_Mutation SNP C C G TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr6:55113499C>G uc003pcl.2 + 2 601 c.286C>G c.(286-288)CTT>GTT p.L96V HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Missense_Mutation_p.L31V NM_001526 NP_001517 O43614 OX2R_HUMAN orexin receptor 2 96 Helical; Name=2; (Potential). feeding behavior integral to plasma membrane neuropeptide receptor activity p.L96V(2) ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1) 6 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CATAGTCAATCTTTCTCTGGC 0.458 NA 76 95 0 0 0 0 KIAA0415 9907 broad.mit.edu 37 7 4825265 4825265 + Missense_Mutation SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr7:4825265C>T uc003sne.2 + 9 1165 c.1082C>T c.(1081-1083)CCG>CTG p.P361L KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_5'Flank NM_014855 NP_055670 O43299 K0415_HUMAN hypothetical protein LOC9907 361 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding central_nervous_system(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15) CGCGGGGACCCGGCCTCTGTG 0.697 NA 5 2 0 0 0 0 FBXL18 80028 broad.mit.edu 37 7 5540952 5540952 + Silent SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr7:5540952C>T uc003soo.2 - 3 1042 c.948G>A c.(946-948)CCG>CCA p.P316P FBXL18_uc003son.3_Silent_p.P316P NM_024963 NP_079239 Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 316 central_nervous_system(2)|ovary(1) 3 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) TGAAGTAGAACGGGTTGTTGA 0.597 NA 12 15 0 0 0 0 PCLO 27445 broad.mit.edu 37 7 82579315 82579315 + Missense_Mutation SNP G G A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr7:82579315G>A uc003uhx.2 - 6 10878 c.10589C>T c.(10588-10590)CCA>CTA p.P3530L PCLO_uc003uhv.2_Missense_Mutation_p.P3530L|PCLO_uc010lec.2_Missense_Mutation_p.P495L NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3461 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GGTTCCAACTGGTTCAGTTTG 0.463 NA 13 21 0 0 0 0 COL1A2 1278 broad.mit.edu 37 7 94056511 94056511 + Silent SNP T T C TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr7:94056511T>C uc003ung.1 + 48 3642 c.3171T>C c.(3169-3171)GGT>GGC p.G1057G COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 1057 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GCCCTGCTGGTCCTTCTGGCC 0.587 NA HNSCC(75;0.22) 7 12 0 0 0 0 CYP3A4 1576 broad.mit.edu 37 7 99364768 99364768 + Missense_Mutation SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr7:99364768C>T uc003urv.1 - 8 888 c.784G>A c.(784-786)GAA>AAA p.E262K CYP3A4_uc003urw.1_Missense_Mutation_p.E261K|CYP3A4_uc011kiz.1_Missense_Mutation_p.E221K|CYP3A4_uc011kja.1_Missense_Mutation_p.E213K|CYP3A4_uc011kjb.1_Missense_Mutation_p.E112K NM_017460 NP_059488 P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, 262 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity central_nervous_system(3)|ovary(1) 4 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) TGTGTATCTTCGAGGCGACTT 0.308 NA 16 33 0 0 0 0 EPHB4 2050 broad.mit.edu 37 7 100403272 100403272 + Silent SNP T T G TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr7:100403272T>G uc003uwn.1 - 15 3020 c.2529A>C c.(2527-2529)CCA>CCC p.P843P EPHB4_uc003uwm.1_Silent_p.P750P|EPHB4_uc010lhj.1_Silent_p.P843P NM_004444 NP_004435 P54760 EPHB4_HUMAN EPH receptor B4 precursor 843 Cytoplasmic (Potential).|Protein kinase. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1) 15 Lung NSC(181;0.041)|all_lung(186;0.0581) TGGGACAGTCTGGGGGCGGGG 0.607 NA 7 96 0 0 0 0 PTN 5764 broad.mit.edu 37 7 136938277 136938277 + Missense_Mutation SNP C C G TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr7:136938277C>G uc003vtq.2 - 3 586 c.223G>C c.(223-225)GAG>CAG p.E75Q PTN_uc010lmx.2_Missense_Mutation_p.E75Q|PTN_uc003vtr.1_Missense_Mutation_p.E75Q NM_002825 NP_002816 P21246 PTN_HUMAN pleiotrophin 75 E -> G (in Ref. 9; AAV38498). nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway endoplasmic reticulum|extracellular space growth factor activity|heparin binding|protein phosphatase inhibitor activity p.E75Q(1) upper_aerodigestive_tract(1)|pancreas(1) 2 TGCTTGCACTCAGCTCCAGTC 0.537 NA 11 53 0 0 0 0 CSMD1 64478 broad.mit.edu 37 8 3611465 3611465 + Silent SNP G G A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr8:3611465G>A uc011kwk.1 - 6 1308 c.918C>T c.(916-918)AAC>AAT p.N306N NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 306 Extracellular (Potential).|CUB 2. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGAACTGAGCGTTAAATCCTT 0.418 NA 19 8 0 0 0 0 MTUS1 57509 broad.mit.edu 37 8 17611496 17611496 + Silent SNP G G T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr8:17611496G>T uc003wxv.2 - 2 2295 c.1821C>A c.(1819-1821)GCC>GCA p.A607A MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Silent_p.A607A|MTUS1_uc010lsz.2_Silent_p.A607A NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN mitochondrial tumor suppressor 1 isoform 1 607 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle ovary(1)|skin(1) 2 Colorectal(111;0.0778) TCGATTTCACGGCAGATGTTG 0.433 NA 109 35 4.07e-57 4.87e-57 1 0 ADCY8 114 broad.mit.edu 37 8 131880186 131880186 + Missense_Mutation SNP G G C TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr8:131880186G>C uc003ytd.3 - 9 2372 c.2116C>G c.(2116-2118)CAA>GAA p.Q706E ADCY8_uc010mds.2_Intron NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 706 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TCCCTCATTTGAGAATACTGT 0.358 NA HNSCC(32;0.087) 19 61 0 0 0 0 TG 7038 broad.mit.edu 37 8 133978854 133978854 + Silent SNP C C A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr8:133978854C>A uc003ytw.2 + 30 5639 c.5598C>A c.(5596-5598)GTC>GTA p.V1866V TG_uc010mdw.2_Silent_p.V625V|TG_uc011ljb.1_Silent_p.V235V|TG_uc011ljc.1_Silent_p.V20V|TG_uc010mdx.1_Intron NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 1866 Type IIIB. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGGTCATTGTCAATGGAAATC 0.453 NA 47 96 3.22e-24 3.82e-24 1 0 CDKN2A 1029 broad.mit.edu 37 9 21971186 21971186 + Nonsense_Mutation SNP G G A rs121913387 TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr9:21971186G>A uc003zpk.2 - 2 384 c.172C>T c.(172-174)CGA>TGA p.R58* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P113L NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 58 ANK 2. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.R58*(68)|p.?(14)|p.M53_R58del(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*89(1)|p.R58R(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.R58fs*61(1)|p.R58fs*62(1)|p.G55fs*86(1)|p.R58Q(1)|p.P113L(1)|p.A57fs*85(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCCGCCACTCGGGCGCTGCCC 0.677 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 10 1 0 0 0 0 FLJ46321 389763 broad.mit.edu 37 9 84608276 84608276 + Missense_Mutation SNP G G A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr9:84608276G>A uc004amn.2 + 4 2938 c.2891G>A c.(2890-2892)CGT>CAT p.R964H NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 964 integral to membrane 0 TCTAAGTCCCGTAGTCGAAGC 0.517 NA 47 90 0 0 0 0 ZNF883 169834 broad.mit.edu 37 9 115760008 115760008 + Missense_Mutation SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr9:115760008C>T uc011lwy.1 - 5 1771 c.532G>A c.(532-534)GAA>AAA p.E178K NM_001101338 NP_001094808 P0CG24 ZN883_HUMAN hypothetical protein LOC169834 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TAGGATTTTTCCTCAGAATGA 0.403 NA 21 27 0 0 0 0 RGS3 5998 broad.mit.edu 37 9 116267802 116267802 + Silent SNP C C T rs142637936 TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr9:116267802C>T uc004bhq.2 + 12 1187 c.978C>T c.(976-978)TCC>TCT p.S326S RGS3_uc004bhr.2_Silent_p.S214S|RGS3_uc004bhs.2_Silent_p.S216S|RGS3_uc004bht.2_Silent_p.S45S|RGS3_uc010muy.2_Silent_p.S45S|RGS3_uc004bhu.2_5'UTR NM_144488 NP_652759 P49796 RGS3_HUMAN regulator of G-protein signalling 3 isoform 6 326 PDZ. inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 CCGTGGATTCCGGTAAGTTAT 0.572 NA 15 19 0 0 0 0 GSN 2934 broad.mit.edu 37 9 124064328 124064328 + Missense_Mutation SNP C C A TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr9:124064328C>A uc004blf.1 + 2 293 c.232C>A c.(232-234)CTG>ATG p.L78M GSN_uc004bld.1_Missense_Mutation_p.L27M|GSN_uc010mvq.1_Missense_Mutation_p.L38M|GSN_uc010mvr.1_Missense_Mutation_p.L38M|GSN_uc010mvu.1_Missense_Mutation_p.L27M|GSN_uc010mvt.1_Missense_Mutation_p.L27M|GSN_uc010mvs.1_Missense_Mutation_p.L27M|GSN_uc004ble.1_Missense_Mutation_p.L27M|GSN_uc010mvv.1_Missense_Mutation_p.L27M|GSN_uc011lyh.1_Missense_Mutation_p.L44M|GSN_uc011lyi.1_Missense_Mutation_p.L27M|GSN_uc011lyj.1_Missense_Mutation_p.L51M NM_000177 NP_000168 P06396 GELS_HUMAN gelsolin isoform a precursor 78 Actin-severing (Potential).|Gelsolin-like 1. actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding breast(2)|ovary(1) 3 GAAGTTCGATCTGGTGCCCGT 0.572 NA 29 112 9.39e-14 1.08e-13 1 0 ADAMTS13 11093 broad.mit.edu 37 9 136307841 136307841 + Silent SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr9:136307841C>T uc004cdv.3 + 18 2655 c.2211C>T c.(2209-2211)TGC>TGT p.C737C ADAMTS13_uc004cdp.3_Intron|ADAMTS13_uc004cdt.1_Silent_p.C737C|ADAMTS13_uc004cdu.1_Silent_p.C706C|ADAMTS13_uc004cdw.3_Silent_p.C737C|ADAMTS13_uc004cdx.3_Silent_p.C706C|ADAMTS13_uc004cdy.1_Intron|ADAMTS13_uc004cdz.3_Silent_p.C407C|ADAMTS13_uc004cds.1_Silent_p.C262C|ADAMTS13_uc004cdr.1_Intron NM_139025 NP_620594 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 737 cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|kidney(1) 6 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CAGAGGCCTGCGTGCTCGAAC 0.657 NA 38 31 0 0 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138714065 138714065 + Missense_Mutation SNP C C G TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr9:138714065C>G uc004cgr.3 - 11 2442 c.2442G>C c.(2440-2442)ATG>ATC p.M814I CAMSAP1_uc004cgq.3_Missense_Mutation_p.M704I|CAMSAP1_uc010nbg.2_Missense_Mutation_p.M536I NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 814 cytoplasm|microtubule ovary(1)|central_nervous_system(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) CAAAGCTGGTCATCTTCACGC 0.587 NA 18 101 0 0 0 0 XPNPEP2 7512 broad.mit.edu 37 X 128887212 128887212 + Silent SNP C C G TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chrX:128887212C>G uc004eut.1 + 11 1339 c.1095C>G c.(1093-1095)CTC>CTG p.L365L NM_003399 NP_003390 O43895 XPP2_HUMAN X-prolyl aminopeptidase 2, membrane-bound 365 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 AGGCCCTCCTCAAGGCCAGCC 0.537 NA 33 51 0 0 0 0 ABL2 27 broad.mit.edu 37 1 179077623 179077632 + Frame_Shift_Del DEL GAGTGGTTGG GAGTGGTTGG - TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr1:179077623_179077632delGAGTGGTTGG uc001gmj.3 - 12 3057_3066 c.2770_2779delCCAACCACTC c.(2770-2781)CCAACCACTCACfs p.P924fs ABL2_uc010pnf.1_Frame_Shift_Del_p.P821fs|ABL2_uc010png.1_Frame_Shift_Del_p.P800fs|ABL2_uc010pnh.1_Frame_Shift_Del_p.P903fs|ABL2_uc001gmg.3_Frame_Shift_Del_p.P806fs|ABL2_uc001gmi.3_Frame_Shift_Del_p.P909fs|ABL2_uc001gmh.3_Frame_Shift_Del_p.P888fs|ABL2_uc010pne.1_Frame_Shift_Del_p.P785fs NM_007314 NP_009298 P42684 ABL2_HUMAN arg tyrosine kinase isoform b 924_927 F-actin-binding (By similarity).|Pro-rich. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(8)|breast(3)|ovary(2)|central_nervous_system(1) 14 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) TTGTGGTTGTGAGTGGTTGGGAGGACGGGG 0.557 NA T ETV6 AML 8 81 --- --- --- --- NA NA NA NA OR4C11 219429 broad.mit.edu 37 11 55371152 55371152 + Frame_Shift_Del DEL T T - TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr11:55371152delT uc010rii.1 - 1 698 c.698delA c.(697-699)AAGfs p.K233fs NM_001004700 NP_001004700 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, 233 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GGAGAGAGCCTTTTTCTTCCC 0.418 NA 47 7 --- --- --- --- NA NA NA NA YY1 7528 broad.mit.edu 37 14 100705745 100705749 + Frame_Shift_Del DEL GCGGT GCGGT - TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 81f3c96a-54bb-4629-a64e-7c8dae66e11a 9289d7b1-076c-410c-a6d3-9e0e5df933fc g.chr14:100705745_100705749delGCGGT uc001ygy.1 + 1 644_648 c.164_168delGCGGT c.(163-168)GGCGGTfs p.G55fs NM_003403 NP_003394 P25490 TYY1_HUMAN YY1 transcription factor 55_56 Gly-rich. cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding 0 Melanoma(154;0.152) gaggacggcggcggtggcgaccacg 0.298 NA 10 12 --- --- --- --- NA NA NA NA