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 ACHILLES_Top_Genes 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 pox_cutoff isArtifactMode oxoGCut FAF1 11124 broad.mit.edu 37 1 51253830 51253830 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr1:51253830C>G uc009vyx.1 - 5 272 c.209G>C c.(208-210)AGT>ACT p.S70T FAF1_uc009vyw.1_RNA|FAF1_uc001cse.1_Missense_Mutation_p.S70T NM_007051 NP_008982 Q9UNN5 FAF1_HUMAN FAS-associated factor 1 70 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity ovary(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) AGCTGGATGACTTGCTGGATT 0.423 NA 10 35 0 0 0.010729 0 0 USP33 23032 broad.mit.edu 37 1 78189060 78189060 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr1:78189060C>G uc001dht.2 - 13 1785 c.1438G>C c.(1438-1440)GAT>CAT p.D480H USP33_uc001dhs.2_Missense_Mutation_p.D201H|USP33_uc001dhu.2_Missense_Mutation_p.D449H|USP33_uc001dhv.2_Missense_Mutation_p.D285H|USP33_uc001dhw.2_Missense_Mutation_p.D480H NM_015017 NP_055832 Q8TEY7 UBP33_HUMAN ubiquitin specific protease 33 isoform 1 480 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(2)|ovary(1) 3 ATTGTTCCATCAAATATGTCT 0.323 Melanoma(152;72 1870 11110 26780 42647) NA 14 40 0 0 0.028581 0 0 LRIG2 9860 broad.mit.edu 37 1 113637318 113637318 + Silent SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr1:113637318G>C uc001edf.1 + 6 942 c.744G>C c.(742-744)CGG>CGC p.R248R LRIG2_uc009wgn.1_Silent_p.R145R NM_014813 NP_055628 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like 248 LRR 8.|Extracellular (Potential). cytoplasm|integral to membrane|plasma membrane ovary(3) 3 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) AAATGCAGCGGAATGGAATTA 0.358 NA 15 92 0 0 0.024245 0 0 SMG5 23381 broad.mit.edu 37 1 156235927 156235927 + Silent SNP A A G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr1:156235927A>G uc001foc.3 - 12 1649 c.1500T>C c.(1498-1500)AGT>AGC p.S500S SMG5_uc009wrv.2_5'UTR NM_015327 NP_056142 Q9UPR3 SMG5_HUMAN SMG5 homolog nonsense mediated mRNA decay 500 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding ovary(2)|skin(2)|pancreas(1) 5 Hepatocellular(266;0.158) CACCTTCAAGACTCTTGTCAG 0.532 NA 16 98 0 0 0.010504 0 0 KLHL20 27252 broad.mit.edu 37 1 173720961 173720961 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr1:173720961C>G uc001gjc.2 + 4 835 c.656C>G c.(655-657)TCC>TGC p.S219C KLHL20_uc010pmr.1_Missense_Mutation_p.S30C|KLHL20_uc009wwf.2_Missense_Mutation_p.S201C NM_014458 NP_055273 Q9Y2M5 KLH20_HUMAN kelch-like 20 219 BACK. cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity ovary(1) 1 GATATAATATCCAGTGATGAG 0.403 GBM(159;862 2695 6559 23041) NA 8 31 0 0 0.006214 0 0 HMCN1 83872 broad.mit.edu 37 1 186120395 186120395 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr1:186120395C>T uc001grq.1 + 94 14901 c.14672C>T c.(14671-14673)GCT>GTT p.A4891V HMCN1_uc001grs.1_Missense_Mutation_p.A460V NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4891 Nidogen G2 beta-barrel. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TTTGGAATTGCTTTCCTTAAT 0.398 NA 16 81 0 0 0.028581 0 0 ADIPOR1 51094 broad.mit.edu 37 1 202912932 202912932 + Silent SNP C C T rs145759019 TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr1:202912932C>T uc001gyq.3 - 6 1026 c.759G>A c.(757-759)GCG>GCA p.A253A ADIPOR1_uc010pqd.1_Silent_p.A177A|ADIPOR1_uc001gyr.3_Silent_p.A52A|ADIPOR1_uc001gys.3_Silent_p.A253A NM_015999 NP_057083 Q96A54 ADR1_HUMAN adiponectin receptor 1 253 Helical; Name=4; (Potential). fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity 0 BRCA - Breast invasive adenocarcinoma(75;0.141) GGTCCCACTGCGCCACAATGA 0.537 NA 9 51 0 0 0.013537 0 0 NFASC 23114 broad.mit.edu 37 1 204944417 204944417 + Missense_Mutation SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr1:204944417G>A uc001hbj.2 + 15 1905 c.1577G>A c.(1576-1578)CGG>CAG p.R526Q NFASC_uc001hbh.2_Missense_Mutation_p.R526Q|NFASC_uc010pqz.1_Missense_Mutation_p.R520Q|NFASC_uc010pra.1_Missense_Mutation_p.R537Q|NFASC_uc001hbi.2_Missense_Mutation_p.R537Q|NFASC_uc010prb.1_Missense_Mutation_p.R537Q|NFASC_uc010prc.1_Missense_Mutation_p.R93Q|NFASC_uc001hbk.1_Missense_Mutation_p.R347Q NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 526 Extracellular (Potential).|Ig-like C2-type 6. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AGGATCTACCGGATGCCCGAG 0.632 NA OREG0014142 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 75 0 0 0.010729 0 0 TARBP1 6894 broad.mit.edu 37 1 234566017 234566017 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr1:234566017C>G uc001hwd.2 - 15 2425 c.2425G>C c.(2425-2427)GTA>CTA p.V809L NM_005646 NP_005637 Q13395 TARB1_HUMAN TAR RNA binding protein 1 809 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity ovary(2)|skin(1) 3 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) ATGCTCACTACTCTCTGAATC 0.483 NA 9 44 0 0 0.010729 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37431192 37431192 + Missense_Mutation SNP A A T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr10:37431192A>T uc001iza.1 + 7 1298 c.1199A>T c.(1198-1200)GAA>GTA p.E400V NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 456 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 CCTACAAAAGAATCATCTACA 0.378 NA 4 20 0 0 0.021553 0 0 GFRA1 2674 broad.mit.edu 37 10 117884826 117884826 + Nonsense_Mutation SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr10:117884826G>A uc001lcj.2 - 6 1374 c.676C>T c.(676-678)CGA>TGA p.R226* GFRA1_uc001lci.2_Nonsense_Mutation_p.R221*|GFRA1_uc009xyr.2_Nonsense_Mutation_p.R221* NM_005264 NP_005255 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 isoform a 226 2. axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity ovary(1)|pancreas(1) 2 Lung NSC(174;0.21) all cancers(201;0.0337) ATGGTCTGTCGCCTCCGCTCT 0.562 Ovarian(128;329 1725 45498 46808 50759) NA 9 44 0 0 0.004482 0 0 DMBT1 1755 broad.mit.edu 37 10 124402690 124402690 + Missense_Mutation SNP G G T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr10:124402690G>T uc001lgk.1 + 53 7124 c.7018G>T c.(7018-7020)GCC>TCC p.A2340S DMBT1_uc001lgl.1_Missense_Mutation_p.A2330S|DMBT1_uc001lgm.1_Missense_Mutation_p.A1712S|DMBT1_uc009xzz.1_Missense_Mutation_p.A2339S|DMBT1_uc010qtx.1_Missense_Mutation_p.A1060S|DMBT1_uc009yab.1_Missense_Mutation_p.A1043S|DMBT1_uc009yac.1_Missense_Mutation_p.A634S NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 2340 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TCTTCGCATTGCCCGCTTCCG 0.577 Ovarian(182;93 2026 18125 22222 38972) NA 21 71 1.96292e-10 2.15166e-10 0.010504 1 0 NUP98 4928 broad.mit.edu 37 11 3800193 3800193 + Missense_Mutation SNP T T C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr11:3800193T>C uc001lyh.2 - 4 556 c.265A>G c.(265-267)AAT>GAT p.N89D NUP98_uc001lyi.2_Missense_Mutation_p.N89D|NUP98_uc001lyj.1_Missense_Mutation_p.N89D|NUP98_uc001lyk.1_Missense_Mutation_p.N89D|NUP98_uc010qxv.1_Intron NM_016320 NP_057404 P52948 NUP98_HUMAN nucleoporin 98kD isoform 1 89 Gly/Thr-rich. carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1) 12 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) AACAAGGTATTTGCTGTTCCT 0.478 NA T HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11 AML 6 70 0 0 0.00308 0 0 CNGA4 1262 broad.mit.edu 37 11 6265487 6265487 + Missense_Mutation SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr11:6265487G>C uc001mco.2 + 6 1683 c.1576G>C c.(1576-1578)GCT>CCT p.A526P CNGA4_uc010raa.1_3'UTR|CNGA4_uc001mcn.2_3'UTR NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 526 Cytoplasmic (Potential). response to stimulus|sensory perception of smell cAMP binding skin(1) 1 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTTAAGATTGCTTACCGCAT 0.592 NA 6 52 0 0 0.02938 0 0 OR10A5 144124 broad.mit.edu 37 11 6867169 6867169 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr11:6867169C>G uc001met.1 + 1 256 c.256C>G c.(256-258)CTG>GTG p.L86V NM_178168 NP_835462 Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, 86 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GCTGGGGACCCTGCTTGCCCA 0.498 Pancreas(44;21 1072 25662 28041 45559) NA 4 45 0 0 0.009096 0 0 CCDC73 493860 broad.mit.edu 37 11 32635535 32635535 + Missense_Mutation SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr11:32635535G>C uc001mtv.2 - 16 2373 c.2329C>G c.(2329-2331)CTT>GTT p.L777V NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN sarcoma antigen NY-SAR-79 777 ovary(1)|central_nervous_system(1) 2 Breast(20;0.112) TTAAGATGAAGATGGGAAATG 0.328 NA 9 38 0 0 0.004482 0 0 API5 8539 broad.mit.edu 37 11 43333683 43333683 + Silent SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr11:43333683G>C uc010rfh.1 + 1 179 c.6G>C c.(4-6)CCG>CCC p.P2P API5_uc010rfg.1_5'UTR|API5_uc001mxf.2_Silent_p.P2P|API5_uc010rfi.1_Silent_p.P2P NM_001142930 NP_001136402 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 isoform a 2 Not acetylated. anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 TCACCATGCCGACAGTAGAGG 0.647 Pancreas(1;98 122 5625 20895 49453) NA OREG0020900 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 25 0 0 0.004482 0 0 PLAC1L 219990 broad.mit.edu 37 11 59812153 59812153 + Missense_Mutation SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr11:59812153G>C uc001nol.2 + 3 438 c.253G>C c.(253-255)GAG>CAG p.E85Q NM_173801 NP_776162 Q86WS3 PLACL_HUMAN placenta-specific 1-like precursor 85 extracellular region ovary(2)|skin(1) 3 GGTAGTTTCTGAGGAAACTCT 0.398 NA 7 34 0 0 0.006214 0 0 ARL2 402 broad.mit.edu 37 11 64787927 64787927 + Missense_Mutation SNP A A G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr11:64787927A>G uc001och.3 + 4 470 c.376A>G c.(376-378)AAG>GAG p.K126E SNX15_uc001oci.3_Intron NM_001667 NP_001658 P36404 ARL2_HUMAN ADP-ribosylation factor-like 2 126 GTP (By similarity). cell cycle|centrosome organization|maintenance of protein location in nucleus|negative regulation of GTPase activity|positive regulation of cell-substrate adhesion|positive regulation of microtubule polymerization|small GTPase mediated signal transduction|tight junction assembly|tubulin complex assembly centrosome|lateral plasma membrane|mitochondrial intermembrane space|nucleus GTP binding|GTPase activity|GTPase inhibitor activity|protein binding 0 CTTTGCTAATAAGCAGGACCT 0.587 NA 4 29 0 0 0.021553 0 0 FAM89B 23625 broad.mit.edu 37 11 65341071 65341071 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr11:65341071C>T uc001oem.2 + 2 811 c.490C>T c.(490-492)CGT>TGT p.R164C FAM89B_uc001oen.2_3'UTR|FAM89B_uc001oel.2_Missense_Mutation_p.R177C|EHBP1L1_uc001oeo.3_5'Flank NM_152832 NP_690045 Q8N5H3 FA89B_HUMAN family with sequence similarity 89, member B 164 0 GCACAATGCCCGTGACCAGTG 0.662 NA 11 43 0 0 0.008291 0 0 LOC645332 645332 broad.mit.edu 37 11 67570529 67570529 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr11:67570529C>T uc001omt.3 - 2 126 c.103G>A c.(103-105)GAA>AAA p.E35K LOC645332_uc001omu.3_Missense_Mutation_p.E35K NR_024249 SubName: Full=cDNA FLJ57700, weakly similar to Protein FAM86A; 0 AACTTTGCTTCTAAGCTCTGT 0.478 NA 4 56 0 0 0.02938 0 0 SUV420H1 51111 broad.mit.edu 37 11 67925781 67925781 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr11:67925781C>G uc001onm.1 - 11 2288 c.2032G>C c.(2032-2034)GTG>CTG p.V678L SUV420H1_uc009yse.1_Missense_Mutation_p.V264L|SUV420H1_uc001onn.1_Missense_Mutation_p.V506L|SUV420H1_uc009ysf.2_Missense_Mutation_p.V438L NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 678 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 TCTGATGTCACAACTGAACAA 0.463 NA 10 34 0 0 0.008291 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr12:25398285C>A uc001rgp.1 - 2 215 c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 19 16 7.88262e-20 8.75278e-20 0.01892 1 0 ADAMTS20 80070 broad.mit.edu 37 12 43846118 43846118 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr12:43846118C>T uc010skx.1 - 14 2038 c.2038G>A c.(2038-2040)GGA>AGA p.G680R NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 680 Cys-rich. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GTTTCAGTTCCACAAGGAGTA 0.343 NA 24 37 0 0 0.024334 0 0 ARID2 196528 broad.mit.edu 37 12 46298746 46298746 + Nonsense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr12:46298746C>G uc001ros.1 + 21 5393 c.5393C>G c.(5392-5394)TCA>TGA p.S1798* ARID2_uc009zkg.1_Nonsense_Mutation_p.S1254*|ARID2_uc009zkh.1_Nonsense_Mutation_p.S1425*|ARID2_uc001rou.1_3'UTR NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1798 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AATAACTTATCAGTGCTAGCC 0.358 NA 6 34 0 0 0.00308 0 0 ACVRL1 94 broad.mit.edu 37 12 52309021 52309021 + Nonsense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr12:52309021C>G uc001rzj.2 + 7 1068 c.785C>G c.(784-786)TCA>TGA p.S262* ACVRL1_uc001rzk.2_Nonsense_Mutation_p.S262*|ACVRL1_uc010snm.1_Nonsense_Mutation_p.S88* NM_000020 NP_000011 P37023 ACVL1_HUMAN activin A receptor type II-like 1 precursor 262 Cytoplasmic (Potential).|Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity lung(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) TTCATCGCCTCAGACATGACC 0.423 NA Hereditary_Hemorrhagic_Telangiectasia 17 50 0 0 0.007413 0 0 RNF41 10193 broad.mit.edu 37 12 56600242 56600242 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr12:56600242C>G uc001skf.1 - 7 1312 c.943G>C c.(943-945)GAA>CAA p.E315Q RNF41_uc001ske.1_Missense_Mutation_p.E244Q|RNF41_uc001skg.1_Missense_Mutation_p.E315Q|RNF41_uc010sqg.1_Missense_Mutation_p.E250Q|RNF41_uc010sqh.1_Missense_Mutation_p.E244Q NM_005785 NP_005776 Q9H4P4 RNF41_HUMAN ring finger protein 41 isoform 1 315 apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding skin(1) 1 TATATCTCTTCCACGCCATGC 0.512 NA OREG0021921 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 144 0 0 0.010771 0 0 B4GALNT1 2583 broad.mit.edu 37 12 58023955 58023955 + Missense_Mutation SNP T T A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr12:58023955T>A uc001spg.1 - 6 1124 c.692A>T c.(691-693)CAG>CTG p.Q231L B4GALNT1_uc010sru.1_Missense_Mutation_p.Q176L|B4GALNT1_uc010srv.1_Missense_Mutation_p.Q231L|B4GALNT1_uc001sph.2_Missense_Mutation_p.Q231L|B4GALNT1_uc001spi.2_Missense_Mutation_p.Q231L NM_001478 NP_001469 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 231 Lumenal (Potential). lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity 0 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) TGTGTTGGTCTGGTAGCTTCG 0.577 NA 7 86 0 0 0.004482 0 0 PHLDA1 22822 broad.mit.edu 37 12 76424317 76424317 + Nonstop_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr12:76424317C>G uc001sxu.2 - 1 1240 c.1205G>C c.(1204-1206)TGA>TCA p.*402S NM_007350 NP_031376 Q8WV24 PHLA1_HUMAN pleckstrin homology-like domain, family A, 402 apoptosis cytoplasmic vesicle membrane|nucleolus|plasma membrane protein binding 0 Colorectal(145;0.09) CTGCCCCTTTCAGGCAGAGTT 0.443 NA 9 61 0 0 0.016723 0 0 PHLDA1 22822 broad.mit.edu 37 12 76424750 76424750 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr12:76424750C>G uc001sxu.2 - 1 807 c.772G>C c.(772-774)GAG>CAG p.E258Q NM_007350 NP_031376 Q8WV24 PHLA1_HUMAN pleckstrin homology-like domain, family A, 258 PH. apoptosis cytoplasmic vesicle membrane|nucleolus|plasma membrane protein binding 0 Colorectal(145;0.09) TCCTTGCCCTCTGCCATCACC 0.577 NA 8 33 0 0 0.006214 0 0 PHLDA1 22822 broad.mit.edu 37 12 76425191 76425191 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr12:76425191C>G uc001sxu.2 - 1 366 c.331G>C c.(331-333)GAG>CAG p.E111Q NM_007350 NP_031376 Q8WV24 PHLA1_HUMAN pleckstrin homology-like domain, family A, 111 apoptosis cytoplasmic vesicle membrane|nucleolus|plasma membrane protein binding 0 Colorectal(145;0.09) GCGCCGTCCTCGCCCCAGCGG 0.756 NA 4 4 0 0 0.009096 0 0 BTG1 694 broad.mit.edu 37 12 92538099 92538099 + Silent SNP A A G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr12:92538099A>G uc001tby.3 - 2 635 c.273T>C c.(271-273)AGT>AGC p.S91S BTG1_uc001tbv.1_5'Flank|BTG1_uc001tbw.1_5'Flank|BTG1_uc001tbx.1_5'Flank|BTG1_uc009zss.1_5'Flank|uc001tca.2_5'Flank NM_001731 NP_001722 P62324 BTG1_HUMAN B-cell translocation protein 1 91 cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|transcription cofactor activity 0 Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09) ACAGCTCCTGACTGCTCAGTC 0.507 NA T MYC BCLL OREG0022024 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 86 0 0 0.016522 0 0 CCDC64 92558 broad.mit.edu 37 12 120510394 120510394 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr12:120510394C>T uc001txl.1 + 6 1194 c.1169C>T c.(1168-1170)TCA>TTA p.S390L CCDC64_uc001txk.2_Missense_Mutation_p.S390L|CCDC64_uc009zwv.1_Intron|CCDC64_uc010sze.1_Intron|CCDC64_uc010szf.1_Missense_Mutation_p.S39L NM_207311 NP_997194 Q6ZP65 BICR1_HUMAN coiled-coil domain containing 64 390 Golgi to secretory granule transport|neuron projection development centrosome dynactin binding|Rab GTPase binding ovary(2) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGTGCTGACTCAGCCGTCTCC 0.567 NA 27 78 0 0 0.034045 0 0 CCDC64 92558 broad.mit.edu 37 12 120510439 120510439 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr12:120510439C>T uc001txl.1 + 6 1239 c.1214C>T c.(1213-1215)TCG>TTG p.S405L CCDC64_uc001txk.2_Missense_Mutation_p.S405L|CCDC64_uc009zwv.1_Intron|CCDC64_uc010sze.1_Intron|CCDC64_uc010szf.1_Missense_Mutation_p.S54L NM_207311 NP_997194 Q6ZP65 BICR1_HUMAN coiled-coil domain containing 64 405 Golgi to secretory granule transport|neuron projection development centrosome dynactin binding|Rab GTPase binding ovary(2) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCAGAAACCTCGTCCGCCAAG 0.567 NA 15 54 0 0 0.0333 0 0 GCN1L1 10985 broad.mit.edu 37 12 120613633 120613633 + Missense_Mutation SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr12:120613633G>C uc001txo.2 - 11 971 c.958C>G c.(958-960)CTG>GTG p.L320V NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 320 HEAT 2. regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CGCAGTGCCAGCACAGCTTCA 0.552 NA 7 30 0 0 0.02938 0 0 DIS3 22894 broad.mit.edu 37 13 73346337 73346337 + Missense_Mutation SNP T T G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr13:73346337T>G uc001vix.3 - 10 1837 c.1463A>C c.(1462-1464)GAT>GCT p.D488A DIS3_uc001viy.3_Missense_Mutation_p.D458A|DIS3_uc001viz.2_RNA NM_014953 NP_055768 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control isoform a 488 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1) 1 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) ATGTAGAGCATCGTCTATATC 0.363 NA Multiple Myeloma(4;0.011) 8 32 0 0 0.00308 0 0 ATP11A 23250 broad.mit.edu 37 13 113510301 113510301 + Missense_Mutation SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr13:113510301G>C uc001vsi.3 + 20 2408 c.2320G>C c.(2320-2322)GAC>CAC p.D774H ATP11A_uc001vsj.3_Missense_Mutation_p.D774H|ATP11A_uc001vsm.1_Missense_Mutation_p.D650H|ATP11A_uc010ago.2_RNA NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 774 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) GCCTCGAGAAGACGGGAGTTC 0.542 NA 27 100 0 0 0.034045 0 0 OR4N5 390437 broad.mit.edu 37 14 20612192 20612192 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr14:20612192C>G uc010tla.1 + 1 298 c.298C>G c.(298-300)CAG>GAG p.Q100E NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, 100 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) CTGCATCACTCAGCTCTTTTT 0.493 NA 9 75 0 0 0.004482 0 0 ZC3H14 79882 broad.mit.edu 37 14 89077222 89077222 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr14:89077222C>G uc001xww.2 + 16 2367 c.2142C>G c.(2140-2142)TTC>TTG p.F714L ZC3H14_uc010twd.1_Missense_Mutation_p.F713L|ZC3H14_uc010twe.1_Missense_Mutation_p.F708L|ZC3H14_uc001xwx.2_Missense_Mutation_p.F557L|ZC3H14_uc010twf.1_Missense_Mutation_p.F427L|ZC3H14_uc001xwy.2_Missense_Mutation_p.F549L|ZC3H14_uc010twg.1_Missense_Mutation_p.F403L|ZC3H14_uc001xxa.2_Missense_Mutation_p.F259L|ZC3H14_uc001xxc.2_Missense_Mutation_p.F258L|ZC3H14_uc001xxb.2_Missense_Mutation_p.F284L NM_024824 NP_079100 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 isoform 1 714 C3H1-type 5. cytoplasm|cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding ovary(2)|skin(1) 3 ACTGCACATTCTACCATCCCA 0.393 NA 20 84 0 0 0.027356 0 0 TTC7B 145567 broad.mit.edu 37 14 91161916 91161916 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr14:91161916C>G uc001xyp.2 - 6 827 c.705G>C c.(703-705)TTG>TTC p.L235F uc001xyr.1_5'Flank NM_001010854 NP_001010854 Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 235 TPR 2. binding ovary(2) 2 Melanoma(154;0.222) CTCCTCTTGTCAAGTTCCTGT 0.383 NA 6 34 0 0 0.021553 0 0 USP8 9101 broad.mit.edu 37 15 50769116 50769116 + Missense_Mutation SNP G G T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr15:50769116G>T uc001zym.3 + 10 1420 c.920G>T c.(919-921)TGT>TTT p.C307F USP8_uc001zyk.1_Missense_Mutation_p.V7F|USP8_uc001zyl.3_Missense_Mutation_p.C307F|USP8_uc001zyn.3_Missense_Mutation_p.C307F|USP8_uc010ufh.1_Missense_Mutation_p.C230F|USP8_uc010bev.1_Intron NM_001128611 NP_001122083 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 307 Rhodanese. cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1)|central_nervous_system(1) 2 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) TGGCTCCTTTGTTATCCCCAG 0.388 NA 16 63 1.33834e-09 1.45768e-09 0.007413 1 0 MYO5A 4644 broad.mit.edu 37 15 52622589 52622589 + Nonsense_Mutation SNP T T A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr15:52622589T>A uc002aby.2 - 34 4685 c.4441A>T c.(4441-4443)AAG>TAG p.K1481* MYO5A_uc002abx.3_Nonsense_Mutation_p.K1454*|MYO5A_uc010ugd.1_Nonsense_Mutation_p.K203*|MYO5A_uc002abz.1_RNA NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA isoform 1 1481 actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|central_nervous_system(1) 4 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) TCATCCTCCTTCTTGTATTCC 0.428 NA 28 141 0 0 0.015359 0 0 VPS13C 54832 broad.mit.edu 37 15 62169209 62169209 + Missense_Mutation SNP T T G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr15:62169209T>G uc002agz.2 - 75 10261 c.10187A>C c.(10186-10188)CAG>CCG p.Q3396P VPS13C_uc002aha.2_Missense_Mutation_p.Q3353P|VPS13C_uc002ahb.1_Missense_Mutation_p.Q3396P|VPS13C_uc002ahc.1_Missense_Mutation_p.Q3353P NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 3396 protein localization ovary(2) 2 CCATATAAGCTGATCTCTCTT 0.294 NA 10 97 0 0 0.010729 0 0 CRAMP1L 57585 broad.mit.edu 37 16 1705274 1705274 + Missense_Mutation SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr16:1705274G>C uc010uvh.1 + 8 1092 c.1092G>C c.(1090-1092)CAG>CAC p.Q364H CRAMP1L_uc002cmf.2_RNA NM_020825 NP_065876 Q96RY5 CRML_HUMAN Crm, cramped-like 364 nucleus DNA binding 0 TCTTGAAGCAGAAGTGGGCGC 0.552 NA 32 32 0 0 0.023175 0 0 CLUAP1 23059 broad.mit.edu 37 16 3562389 3562389 + Missense_Mutation SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr16:3562389G>A uc002cvk.1 + 5 511 c.406G>A c.(406-408)GAT>AAT p.D136N CLUAP1_uc002cvj.1_Missense_Mutation_p.D136N|CLUAP1_uc002cvl.1_Missense_Mutation_p.D136N|CLUAP1_uc002cvm.1_Intron NM_015041 NP_055856 Q96AJ1 CLUA1_HUMAN clusterin associated protein 1 isoform 1 136 nucleus protein binding ovary(1)|breast(1)|pancreas(1) 3 CCAGATTGCAGATTTGAAGGC 0.343 NA 3 55 0 0 0.009096 0 0 CREBBP 1387 broad.mit.edu 37 16 3781195 3781195 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr16:3781195C>T uc002cvv.2 - 30 5374 c.5170G>A c.(5170-5172)GAG>AAG p.E1724K CREBBP_uc002cvw.2_Missense_Mutation_p.E1686K NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1724 Interaction with TRERF1.|ZZ-type. ED -> VV (in Ref. 2; AAC51340). cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GGGCCTACCTCGCACACAGTG 0.652 NA T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybsyndrome 30 124 0 0 0.010818 0 0 CREBBP 1387 broad.mit.edu 37 16 3789613 3789613 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr16:3789613C>G uc002cvv.2 - 25 4450 c.4246G>C c.(4246-4248)GAA>CAA p.E1416Q CREBBP_uc002cvw.2_Missense_Mutation_p.E1378Q NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1416 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GAGCCGTATTCTTGGACGTGC 0.493 NA T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybsyndrome 11 42 0 0 0.028581 0 0 ITGAL 3683 broad.mit.edu 37 16 30490717 30490717 + Missense_Mutation SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr16:30490717G>A uc002dyi.3 + 6 687 c.511G>A c.(511-513)GAA>AAA p.E171K ITGAL_uc010veu.1_Intron|ITGAL_uc002dyj.3_Intron|ITGAL_uc010vev.1_Intron NM_002209 NP_002200 P20701 ITAL_HUMAN integrin alpha L isoform a precursor 171 VWFA.|Extracellular (Potential). blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity ovary(3)|lung(3)|central_nervous_system(3)|breast(1) 10 Efalizumab(DB00095) GCAGCCAGATGAATTTCAGAA 0.388 NSCLC(110;1462 1641 3311 33990 49495) NA 5 41 0 0 0.02938 0 0 SRCAP 10847 broad.mit.edu 37 16 30732535 30732535 + Silent SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr16:30732535G>A uc002dze.1 + 21 3664 c.3279G>A c.(3277-3279)CTG>CTA p.L1093L SRCAP_uc002dzf.2_Intron|SRCAP_uc002dzg.1_Silent_p.L950L|SRCAP_uc010bzz.1_Silent_p.L663L NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 1093 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) TGGGGGTCCTGAGTGGGACCT 0.602 NA 21 107 0 0 0.030593 0 0 ZNF267 10308 broad.mit.edu 37 16 31927690 31927690 + Missense_Mutation SNP G G A rs146914846 byFrequency TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr16:31927690G>A uc002ecs.3 + 4 2329 c.2120G>A c.(2119-2121)CGG>CAG p.R707Q NM_003414 NP_003405 Q14586 ZN267_HUMAN zinc finger protein 267 707 C2H2-type 14. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1)|skin(1) 4 ACTACACATCGGAGAAGTCAT 0.433 NA 3 77 0 0 0.014758 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53636079 53636079 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr16:53636079C>T uc002ehp.2 - 27 3921 c.3857G>A c.(3856-3858)GGT>GAT p.G1286D RPGRIP1L_uc002eho.3_Missense_Mutation_p.G1206D|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.G1240D|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.G1252D NM_015272 NP_056087 Q68CZ1 FTM_HUMAN RPGRIP1-like isoform a 1286 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding ovary(1) 1 all_cancers(37;0.0973) AATACCTTCACCATCTGCTCG 0.443 NA 14 38 0 0 0.007413 0 0 FHOD1 29109 broad.mit.edu 37 16 67267932 67267932 + Silent SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr16:67267932C>T uc002esl.2 - 13 1786 c.1674G>A c.(1672-1674)CTG>CTA p.L558L FHOD1_uc010ced.2_Silent_p.L365L|FHOD1_uc010vjh.1_Silent_p.L218L NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 558 FH1. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(2)|ovary(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) ACTCTACATTCAGCATGTCCT 0.617 NA 8 67 0 0 0.00308 0 0 FANCA 2175 broad.mit.edu 37 16 89815072 89815072 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr16:89815072C>T uc002fou.1 - 33 3385 c.3343G>A c.(3343-3345)GAG>AAG p.E1115K FANCA_uc010vpn.1_Missense_Mutation_p.E1115K|FANCA_uc010vpo.1_Missense_Mutation_p.E201K NM_000135 NP_000126 O15360 FANCA_HUMAN Fanconi anemia, complementation group A isoform 1115 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) CCTACCATCTCAGAGTTGACC 0.602 NA D|Mis|N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 3 27 0 0 0.004672 0 0 VPS53 55275 broad.mit.edu 37 17 556535 556535 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr17:556535C>T uc002frn.2 - 7 751 c.604G>A c.(604-606)GAA>AAA p.E202K VPS53_uc002frk.2_Intron|VPS53_uc010cjo.1_Missense_Mutation_p.E202K|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Missense_Mutation_p.E173K|VPS53_uc002fro.2_5'UTR|VPS53_uc010cjp.1_Intron NM_018289 NP_060759 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 isoform 2 202 protein transport endosome membrane|Golgi apparatus 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) GTTTACCTTTCGGAAAGCTGC 0.483 NA 4 110 0 0 0.009096 0 0 GEMIN4 50628 broad.mit.edu 37 17 650277 650277 + Missense_Mutation SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr17:650277G>A uc002frs.1 - 2 1125 c.1006C>T c.(1006-1008)CGC>TGC p.R336C GEMIN4_uc010vqa.1_3'UTR NM_015721 NP_056536 P57678 GEMI4_HUMAN gemin 4 336 rRNA processing|spliceosomal snRNP assembly Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex protein binding ovary(2)|kidney(1)|skin(1) 4 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.022) TGGCTGCTGCGGAGCACGGCC 0.632 NA 7 41 0 0 0.02938 0 0 SERPINF2 5345 broad.mit.edu 37 17 1657465 1657465 + Missense_Mutation SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr17:1657465G>C uc002ftk.1 + 10 1190 c.1113G>C c.(1111-1113)CAG>CAC p.Q371H SERPINF2_uc010vqr.1_Missense_Mutation_p.Q307H NM_000934 NP_000925 P08697 A2AP_HUMAN alpha-2-antiplasmin isoform a precursor 371 acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) Streptokinase(DB00086) TCTCCGAGCAGAGCCTGGTGG 0.677 NA 11 75 0 0 0.013537 0 0 TP53 7157 broad.mit.edu 37 17 7578507 7578507 + Nonsense_Mutation SNP G G T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr17:7578507G>T uc002gim.2 - 5 617 c.423C>A c.(421-423)TGC>TGA p.C141* TP53_uc002gig.1_Nonsense_Mutation_p.C141*|TP53_uc002gih.2_Nonsense_Mutation_p.C141*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.C9*|TP53_uc010cng.1_Nonsense_Mutation_p.C9*|TP53_uc002gii.1_Nonsense_Mutation_p.C9*|TP53_uc010cnh.1_Nonsense_Mutation_p.C141*|TP53_uc010cni.1_Nonsense_Mutation_p.C141*|TP53_uc002gij.2_Nonsense_Mutation_p.C141*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.C48*|TP53_uc002gio.2_Nonsense_Mutation_p.C9*|TP53_uc010vug.1_Nonsense_Mutation_p.C102* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 141 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> S (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.C141Y(61)|p.C141*(11)|p.C141R(10)|p.C141W(10)|p.0?(7)|p.C141C(4)|p.C141F(4)|p.C141fs*29(3)|p.N131fs*27(2)|p.C141S(2)|p.C141fs*8(2)|p.L137_W146del10(1)|p.K139fs*4(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.A138_V143delAKTCPV(1)|p.A138_P142delAKTCP(1)|p.C141A(1)|p.C141G(1)|p.C141_P142insXX(1)|p.K139_C141>N(1)|p.C141fs*5(1)|p.P142del(1)|p.P142fs*7(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) GCTGCACAGGGCAGGTCTTGG 0.577 Pancreas(47;798 1329 9957 10801) 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-Fraumensyndrome|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) 10 39 2.27111e-07 2.42725e-07 0.013537 1 0 MYH13 8735 broad.mit.edu 37 17 10248849 10248849 + Missense_Mutation SNP C C A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr17:10248849C>A uc002gmk.1 - 14 1438 c.1348G>T c.(1348-1350)GAC>TAC p.D450Y MYH13_uc010vvf.1_Missense_Mutation_p.D125Y NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 450 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 TGCTTGGTGTCCAGCTGCTGG 0.512 NA 45 93 5.39261e-20 6.02704e-20 0.01441 1 0 KRTAP4-4 84616 broad.mit.edu 37 17 39316759 39316759 + Missense_Mutation SNP T T C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr17:39316759T>C uc002hwc.2 - 1 225 c.185A>G c.(184-186)CAC>CGC p.H62R NM_032524 NP_115913 Q9BYR3 KRA44_HUMAN keratin associated protein 4.4 62 9.|26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR]. Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1). keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) GCAGCTGGGGTGGCAGCAGGT 0.662 NA 4 112 0 0 0.02938 0 0 TMEM106A 113277 broad.mit.edu 37 17 41365217 41365217 + Missense_Mutation SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr17:41365217G>A uc002idn.1 + 3 394 c.157G>A c.(157-159)GAT>AAT p.D53N TMEM106A_uc010why.1_Missense_Mutation_p.D5N|TMEM106A_uc010cze.1_Missense_Mutation_p.D53N|TMEM106A_uc010whz.1_Missense_Mutation_p.D53N NM_145041 NP_659478 Q96A25 T106A_HUMAN transmembrane protein 106A 53 integral to membrane 0 Breast(137;0.0164) BRCA - Breast invasive adenocarcinoma(366;0.0917) AGGAACTGCTGATGCCAGCTT 0.552 NA 12 116 0 0 0.006122 0 0 MSI2 124540 broad.mit.edu 37 17 55478817 55478817 + Silent SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr17:55478817C>T uc002iuz.1 + 6 563 c.390C>T c.(388-390)TTC>TTT p.F130F MSI2_uc010wnm.1_Silent_p.F108F|MSI2_uc002iva.2_Silent_p.F126F NM_138962 NP_620412 Q96DH6 MSI2H_HUMAN musashi 2 isoform a 130 RRM 2. cytoplasm nucleotide binding|RNA binding central_nervous_system(1)|pancreas(1) 2 Breast(9;1.78e-08) GBM - Glioblastoma multiforme(1;0.0025) AGCAATATTTCGAGCAGTTTG 0.488 NA T HOXA9 CML 20 61 0 0 0.027356 0 0 STRADA 92335 broad.mit.edu 37 17 61781922 61781922 + Silent SNP G G A rs147552949 TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr17:61781922G>A uc002jbm.2 - 11 1038 c.879C>T c.(877-879)AAC>AAT p.N293N STRADA_uc002jbn.2_Silent_p.N235N|STRADA_uc002jbo.2_Silent_p.N256N|STRADA_uc002jbp.2_Silent_p.N256N|STRADA_uc002jbq.2_Silent_p.N235N|STRADA_uc010wpq.1_Silent_p.N249N|STRADA_uc010wpr.1_Silent_p.N264N|STRADA_uc010ddw.2_Silent_p.N264N|STRADA_uc002jbr.2_3'UTR NM_001003787 NP_001003787 Q7RTN6 STRAA_HUMAN STE20-related kinase adaptor alpha isoform 1 293 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|kinase binding|protein kinase activity ovary(1) 1 GCACTGTGCCGTTCAGTTTCT 0.632 NA 21 74 0 0 0.021523 0 0 SLC9A3R1 9368 broad.mit.edu 37 17 72759559 72759559 + Silent SNP C C T rs147104235 byFrequency TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr17:72759559C>T uc002jlo.2 + 3 880 c.657C>T c.(655-657)ATC>ATT p.I219I SLC9A3R1_uc002jln.1_RNA|SLC9A3R1_uc002jlp.2_Silent_p.I63I NM_004252 NP_004243 O14745 NHRF1_HUMAN sodium/hydrogen exchanger regulatory factor 1 219 PDZ 2. apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association 0 TGTCCGCCATCAGGGCTGGCG 0.607 NA 8 23 0 0 0.008291 0 0 ROCK1 6093 broad.mit.edu 37 18 18586533 18586533 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr18:18586533C>G uc002kte.2 - 16 2605 c.1664G>C c.(1663-1665)AGG>ACG p.R555T NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 555 Interaction with FHOD1.|Potential. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) CGATTCTGTCCTAAGTAAGTC 0.348 NA 12 45 0 0 0.010729 0 0 SLC14A2 8170 broad.mit.edu 37 18 43216966 43216966 + Missense_Mutation SNP C C A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr18:43216966C>A uc010dnj.2 + 7 983 c.662C>A c.(661-663)TCT>TAT p.S221Y SLC14A2_uc002lbb.2_Missense_Mutation_p.S221Y|SLC14A2_uc002lbe.2_Missense_Mutation_p.S221Y NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 221 Helical; (Potential). apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 CCAGTTCTTTCTAGTGCCTTG 0.517 NA 42 154 6.4308e-24 7.23465e-24 0.01441 1 0 LINGO3 645191 broad.mit.edu 37 19 2290251 2290251 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr19:2290251C>G uc010dsx.1 - 2 1653 c.1525G>C c.(1525-1527)GAG>CAG p.E509Q SPPL2B_uc010dsw.1_Intron|uc002lvo.1_5'UTR NM_001101391 NP_001094861 P0C6S8 LIGO3_HUMAN leucine rich repeat and Ig domain containing 3 509 Extracellular (Potential). integral to membrane 0 TTGTGGGCCTCGCCCGGGGTC 0.726 NA 4 26 0 0 0.021553 0 0 MRPL4 51073 broad.mit.edu 37 19 10369342 10369342 + Silent SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr19:10369342C>T uc002mnm.2 + 9 874 c.720C>T c.(718-720)TTC>TTT p.F240F MRPL4_uc002mnn.2_Silent_p.F240F|MRPL4_uc002mno.2_Silent_p.F240F NM_146387 NP_666499 Q9BYD3 RM04_HUMAN mitochondrial ribosomal protein L4 isoform a 240 translation mitochondrion|ribosome structural constituent of ribosome ovary(1) 1 Renal(1328;0.0112) OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06) Lung(535;0.00705) TTAAGACCTTCAACTTGATCC 0.567 NA 10 82 0 0 0.010729 0 0 QTRT1 81890 broad.mit.edu 37 19 10823678 10823678 + Missense_Mutation SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr19:10823678G>A uc002mpr.2 + 9 1046 c.1021G>A c.(1021-1023)GCG>ACG p.A341T DNM2_uc010dxk.2_5'Flank NM_031209 NP_112486 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 341 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity skin(1) 1 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) CAACACGGCCGCGCTGCACCA 0.682 NA 7 23 0 0 0.008291 0 0 DCAF15 90379 broad.mit.edu 37 19 14070103 14070103 + Missense_Mutation SNP C C A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr19:14070103C>A uc002mxt.2 + 7 1037 c.1031C>A c.(1030-1032)CCT>CAT p.P344H DCAF15_uc002mxu.2_5'Flank NM_138353 NP_612362 Q66K64 DCA15_HUMAN DDB1 and CUL4 associated factor 15 344 central_nervous_system(1) 1 GAAGCCCGGCCTGCCCTGTGC 0.701 NA 3 25 0.00909568 0.00936965 0.009096 1 0 TSHZ3 57616 broad.mit.edu 37 19 31770038 31770038 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr19:31770038C>T uc002nsy.3 - 2 726 c.661G>A c.(661-663)GCT>ACT p.A221T NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 221 C2H2-type 1. negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) TCGTAGGCAGCGCTGCAGTCC 0.602 NA 14 146 0 0 0.007413 0 0 MAP4K1 11184 broad.mit.edu 37 19 39103253 39103253 + Silent SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr19:39103253G>A uc002oix.1 - 9 771 c.663C>T c.(661-663)CTC>CTT p.L221L MAP4K1_uc002oiy.1_Silent_p.L221L|MAP4K1_uc010xug.1_5'UTR NM_007181 NP_009112 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase 221 Protein kinase. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity skin(4)|lung(3)|ovary(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CTGCCTACCTGAGAGGGTGCA 0.607 NA 13 29 0 0 0.028581 0 0 PRX 57716 broad.mit.edu 37 19 40902612 40902612 + Silent SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr19:40902612C>G uc002onr.2 - 7 1916 c.1647G>C c.(1645-1647)CCG>CCC p.P549P PRX_uc002onq.2_Silent_p.P410P|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 549 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].|18. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding p.P549P(1) ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CTGACACTTTCGGCAGCTGTA 0.577 NA 3 172 0 0 0.014758 0 0 ZNF649 65251 broad.mit.edu 37 19 52394652 52394652 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr19:52394652C>T uc002pxy.2 - 5 1005 c.737G>A c.(736-738)AGG>AAG p.R246K ZNF577_uc010ydf.1_5'Flank NM_023074 NP_075562 Q9BS31 ZN649_HUMAN zinc finger protein 649 246 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) GAGCCTGTACCTCTTGTAGAA 0.502 NA 3 104 0 0 0.004672 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55340825 55340825 + Missense_Mutation SNP G G T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr19:55340825G>T uc002qhk.3 + 7 1073 c.1010G>T c.(1009-1011)AGA>ATA p.R337I KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.R262I|KIR3DL1_uc010esf.2_Missense_Mutation_p.R242I|KIR3DL1_uc010yfo.1_Missense_Mutation_p.R279I|KIR3DL1_uc002qhl.3_Intron NM_013289 NP_037421 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three 337 Extracellular (Potential). immune response|regulation of immune response integral to plasma membrane HLA-B specific inhibitory MHC class I receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1) 5 GBM - Glioblastoma multiforme(193;0.0192) GGTAACCCCAGACACCTGCAC 0.333 NA 10 80 0.00010058 0.000106168 0.013537 1 0 NLRP8 126205 broad.mit.edu 37 19 56466501 56466501 + Silent SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr19:56466501G>A uc002qmh.2 + 3 1148 c.1077G>A c.(1075-1077)ACG>ACA p.T359T NLRP8_uc010etg.2_Silent_p.T359T NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 359 NACHT. cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GGTTTAATACGATGGAAAAAA 0.453 NA 28 60 0 0 0.015359 0 0 USP34 9736 broad.mit.edu 37 2 61484020 61484020 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr2:61484020C>T uc002sbe.2 - 47 6136 c.6114G>A c.(6112-6114)ATG>ATA p.M2038I USP34_uc002sbf.2_Missense_Mutation_p.M188I NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 2038 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) AAATGTTCTTCATATCAGCCA 0.289 NA 5 48 0 0 0.014758 0 0 FBXO41 150726 broad.mit.edu 37 2 73493698 73493698 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr2:73493698C>T uc002sjb.1 - 3 1201 c.1201G>A c.(1201-1203)GAG>AAG p.E401K NM_001080410 NP_001073879 Q8TF61 FBX41_HUMAN F-box protein 41 340 Potential. intracellular protein binding|zinc ion binding breast(2)|pancreas(1) 3 AGCTGCCGCTCGGCACGGTCA 0.701 NA 4 26 0 0 0.009096 0 0 SNRNP200 23020 broad.mit.edu 37 2 96964614 96964614 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr2:96964614C>T uc002svu.2 - 7 907 c.821G>A c.(820-822)CGT>CAT p.R274H NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 274 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 ATCATAGAAACGACTGAGCTG 0.438 NA 35 78 0 0 0.015359 0 0 UGGT1 56886 broad.mit.edu 37 2 128870740 128870740 + Missense_Mutation SNP A A T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr2:128870740A>T uc002tps.2 + 6 782 c.604A>T c.(604-606)ATT>TTT p.I202F UGGT1_uc010fme.1_Missense_Mutation_p.I77F|UGGT1_uc002tpr.2_Missense_Mutation_p.I178F NM_020120 NP_064505 Q9NYU2 UGGG1_HUMAN UDP-glucose ceramide glucosyltransferase-like 1 202 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding ovary(1) 1 CTACTCTGAGATTGGCTCTGA 0.343 NA 27 63 0 0 0.027356 0 0 LOC401010 401010 broad.mit.edu 37 2 132200935 132200935 + Missense_Mutation SNP C C T rs71345556 by1000genomes TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr2:132200935C>T uc002tst.2 - 1 1533 c.1067G>A c.(1066-1068)AGT>AAT p.S356N NR_002826 SubName: Full=cDNA FLJ12694 fis, clone NT2RP1000358, highly similar to Homo sapiens mRNA; cDNA DKFZp564C186 (from clone DKFZp564C186); 0 CAGGTTGACACTGGACAGCTT 0.597 NA 3 16 0 0 0.004672 0 0 NCKAP5 344148 broad.mit.edu 37 2 133541671 133541671 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr2:133541671C>T uc002ttp.2 - 14 3087 c.2713G>A c.(2713-2715)GAC>AAC p.D905N NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 905 protein binding 0 TCTCCACTGTCACTAGACTCA 0.647 NA 26 53 0 0 0.009535 0 0 XIRP2 129446 broad.mit.edu 37 2 168105622 168105622 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr2:168105622C>G uc002udx.2 + 8 7738 c.7720C>G c.(7720-7722)CAA>GAA p.Q2574E XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.Q2399E|XIRP2_uc010fpq.2_Missense_Mutation_p.Q2352E|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2399 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TGTTAAAACTCAAAGCCAAAA 0.333 NA 15 54 0 0 0.0333 0 0 HDLBP 3069 broad.mit.edu 37 2 242187753 242187753 + Missense_Mutation SNP C C A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr2:242187753C>A uc002waz.2 - 13 1751 c.1523G>T c.(1522-1524)CGT>CTT p.R508L HDLBP_uc002wba.2_Missense_Mutation_p.R508L|HDLBP_uc002wbb.2_Missense_Mutation_p.R460L NM_203346 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 508 KH 5. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(3)|skin(1) 4 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) ATCCTTGGTACGCTCATTTTC 0.458 NA 24 72 2.44723e-14 2.69985e-14 0.024334 1 0 GAL3ST2 64090 broad.mit.edu 37 2 242741340 242741340 + Silent SNP A A G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr2:242741340A>G uc002wcj.1 + 3 395 c.264A>G c.(262-264)TCA>TCG p.S88S NM_022134 NP_071417 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 88 Lumenal (Potential). biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) CCGCCGGCTCACGCGTCCACC 0.642 NA 7 78 0 0 0.006214 0 0 SLC4A11 83959 broad.mit.edu 37 20 3211402 3211402 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr20:3211402C>T uc002wig.2 - 10 1354 c.1306G>A c.(1306-1308)GCG>ACG p.A436T SLC4A11_uc010zqe.1_Missense_Mutation_p.A463T|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.A420T NM_032034 NP_114423 Q8NBS3 S4A11_HUMAN solute carrier family 4 member 11 436 Helical; (Potential).|Membrane (bicarbonate transporter). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity ovary(1) 1 GCCAGGGGCGCGGTGGTCAGC 0.682 NSCLC(190;922 2139 10266 10292 38692) NA 3 38 0 0 0.004672 0 0 ANKRD5 63926 broad.mit.edu 37 20 10030698 10030698 + Nonsense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr20:10030698C>G uc002wno.2 + 7 1874 c.1481C>G c.(1480-1482)TCA>TGA p.S494* uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Nonsense_Mutation_p.S494*|ANKRD5_uc010gbz.2_Nonsense_Mutation_p.S305* NM_022096 NP_071379 Q9NU02 ANKR5_HUMAN ankyrin repeat domain protein 5 494 calcium ion binding ovary(1)|breast(1) 2 AAGGTATTTTCAAACATTAAT 0.383 NA 10 100 0 0 0.008291 0 0 CSRP2BP 57325 broad.mit.edu 37 20 18142502 18142502 + Missense_Mutation SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr20:18142502G>C uc002wqj.2 + 6 1343 c.721G>C c.(721-723)GAG>CAG p.E241Q CSRP2BP_uc002wqk.2_Missense_Mutation_p.E113Q|CSRP2BP_uc010zru.1_Missense_Mutation_p.E112Q NM_020536 NP_065397 Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 241 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity lung(3)|ovary(2)|skin(1) 6 CATTACTGTTGAGGGACTTAG 0.308 NA 20 85 0 0 0.014323 0 0 SALL4 57167 broad.mit.edu 37 20 50407635 50407635 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr20:50407635C>G uc002xwh.3 - 2 1488 c.1387G>C c.(1387-1389)GAC>CAC p.D463H SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN sal-like 4 463 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 TCTATGGGGTCAGGTACAGAG 0.532 NA 23 127 0 0 0.01892 0 0 LAMA5 3911 broad.mit.edu 37 20 60907449 60907449 + Silent SNP G G A rs142357165 TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr20:60907449G>A uc002ycq.2 - 28 3598 c.3531C>T c.(3529-3531)GCC>GCT p.A1177A NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 1177 Domain IV 1 (domain IV B). angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTGCCTGTTCGGCTGTGAGCC 0.627 NA 9 109 0 0 0.006214 0 0 KCNJ15 3772 broad.mit.edu 37 21 39671975 39671975 + Silent SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr21:39671975G>A uc002ywv.2 + 4 1094 c.792G>A c.(790-792)CTG>CTA p.L264L KCNJ15_uc002yww.2_Silent_p.L264L|KCNJ15_uc002ywx.2_Silent_p.L264L NM_002243 NP_002234 Q99712 IRK15_HUMAN potassium inwardly-rectifying channel J15 264 Cytoplasmic (By similarity). synaptic transmission integral to plasma membrane inward rectifier potassium channel activity ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 6 CGAGCCCCCTGAGAGACCTCA 0.547 NA 12 30 0 0 0.016723 0 0 SEPT5 5413 broad.mit.edu 37 22 19709227 19709227 + Missense_Mutation SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr22:19709227G>A uc002zpv.1 + 9 907 c.782G>A c.(781-783)CGG>CAG p.R261Q SEPT5_uc002zpw.1_RNA|SEPT5_uc002zpx.1_RNA|SEPT5_uc002zpy.1_5'UTR|SEPT5_uc002zpz.1_5'Flank NM_002688 NP_002679 Q99719 SEPT5_HUMAN septin 5 261 cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting plasma membrane|septin complex|synaptic vesicle GTP binding|GTPase activity|protein binding|structural molecule activity lung(1) 1 Colorectal(54;0.0993) CAGCGGGTCCGGGGCCGACTG 0.677 NA 27 82 0 0 0.012213 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr22:29091841G>A uc003adu.1 - 11 1188 c.1116C>T c.(1114-1116)TCC>TCT p.S372S CHEK2_uc003ads.1_Silent_p.S151S|CHEK2_uc010gvh.1_Silent_p.S281S|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Silent_p.S415S|CHEK2_uc003adv.1_Silent_p.S343S|CHEK2_uc003adw.1_Silent_p.S372S|CHEK2_uc003adx.1_Silent_p.S151S|CHEK2_uc003ady.1_Silent_p.S372S|CHEK2_uc003adz.1_Silent_p.S176S NM_007194 NP_009125 O96017 CHK2_HUMAN protein kinase CHK2 isoform a 372 Protein kinase. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(1) central_nervous_system(17)|stomach(1)|ovary(1)|lung(1) 20 CCAAAATCTTGGAGTGCCCAA 0.413 NA F breast Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer 3 37 0 0 0.004482 0 0 TIMP3 7078 broad.mit.edu 37 22 33255201 33255201 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr22:33255201C>T uc003anb.2 + 5 1659 c.473C>T c.(472-474)ACT>ATT p.T158I SYN3_uc003amx.2_Intron|SYN3_uc003amy.2_Intron|SYN3_uc003amz.2_Intron NM_000362 NP_000353 P35625 TIMP3_HUMAN tissue inhibitor of metalloproteinase 3 158 Mediates interaction with EFEMP1. negative regulation of membrane protein ectodomain proteolysis|visual perception metal ion binding|metalloendopeptidase inhibitor activity|protein binding lung(1) 1 TGCTTTGTGACTTCCAAGAAC 0.542 NA 72 61 0 0 0.01441 0 0 MCM5 4174 broad.mit.edu 37 22 35817407 35817407 + Silent SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr22:35817407C>T uc003anu.3 + 15 2023 c.1929C>T c.(1927-1929)CTC>CTT p.L643L MCM5_uc010gwr.2_Silent_p.L452L|MCM5_uc003anv.3_Silent_p.L600L|MCM5_uc003anw.1_Silent_p.L427L NM_006739 NP_006730 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 643 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(1) 1 CCCTGCGGCTCTTCCAAGTGT 0.612 NA 46 121 0 0 0.01441 0 0 TRIOBP 11078 broad.mit.edu 37 22 38154137 38154137 + Missense_Mutation SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr22:38154137G>C uc003atr.2 + 16 6476 c.6205G>C c.(6205-6207)GAG>CAG p.E2069Q TRIOBP_uc003atu.2_Missense_Mutation_p.E1897Q|TRIOBP_uc003atv.2_Missense_Mutation_p.E356Q|TRIOBP_uc003atw.2_Missense_Mutation_p.E356Q|TRIOBP_uc003atx.1_5'UTR|TRIOBP_uc010gxh.2_5'UTR NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 2069 Potential. actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) CGAGGCACTGGAGAAGGAGGT 0.662 NA 7 26 0 0 0.006214 0 0 APOBEC3A 200315 broad.mit.edu 37 22 39357577 39357577 + Silent SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr22:39357577G>A uc003awn.2 + 3 530 c.360G>A c.(358-360)GTG>GTA p.V120V APOBEC3A_uc011aob.1_Silent_p.V102V|APOBEC3A_uc011aoc.1_Silent_p.V120V NM_145699 NP_663745 P31941 ABC3A_HUMAN phorbolin 1 120 cellular response to xenobiotic stimulus|defense response to virus|DNA cytosine deamination|DNA demethylation|innate immune response|negative regulation of transposition|negative regulation of viral genome replication cytoplasm|nucleus cytidine deaminase activity|zinc ion binding ovary(1) 1 Melanoma(58;0.04) ACACACACGTGAGACTGCGTA 0.572 NA 46 131 0 0 0.01441 0 0 MLH1 4292 broad.mit.edu 37 3 37081768 37081768 + Silent SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr3:37081768C>G uc003cgl.2 + 14 1710 c.1650C>G c.(1648-1650)CTC>CTG p.L550L MLH1_uc011aye.1_Silent_p.L309L|MLH1_uc011ayb.1_Silent_p.L309L|MLH1_uc010hge.2_Silent_p.L550L|MLH1_uc003cgn.3_Silent_p.L309L|MLH1_uc011ayc.1_Silent_p.L452L|MLH1_uc011ayd.1_Silent_p.L309L|MLH1_uc003cgo.2_Silent_p.L309L|MLH1_uc010hgj.1_Silent_p.L192L|MLH1_uc010hgk.2_Silent_p.L192L|MLH1_uc010hgl.1_Silent_p.L125L|MLH1_uc010hgn.2_Silent_p.L192L|MLH1_uc010hgm.2_Intron|MLH1_uc010hgo.2_Intron|MLH1_uc010hgp.2_5'Flank|MLH1_uc010hgq.2_5'Flank NM_000249 NP_000240 P40692 MLH1_HUMAN MutL protein homolog 1 550 Interaction with EXO1. L -> P (in HNPCC2). mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding p.0?(1) large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1) 77 TATACCTTCTCAACACCACCA 0.463 1 D|Mis|N|F|S colorectal|endometrial|ovarian|CNS colorectal|endometrial|ovarian|CNS MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 13 51 0 0 0.007413 0 0 ITGA9 3680 broad.mit.edu 37 3 37565099 37565099 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr3:37565099C>T uc003chd.2 + 12 1377 c.1324C>T c.(1324-1326)CCT>TCT p.P442S ITGA9_uc003chc.2_Missense_Mutation_p.P442S NM_002207 NP_002198 Q13797 ITA9_HUMAN integrin, alpha 9 precursor 442 Extracellular (Potential).|Potential.|FG-GAP 7. axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|pancreas(1)|lung(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) AAATGGCTATCCTGGTAAGCT 0.383 NA 7 65 0 0 0.00308 0 0 GORASP1 64689 broad.mit.edu 37 3 39139759 39139759 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr3:39139759C>T uc003ciw.1 - 9 1389 c.1291G>A c.(1291-1293)GAC>AAC p.D431N GORASP1_uc003civ.1_RNA|GORASP1_uc003cix.1_RNA|GORASP1_uc003ciy.1_RNA|GORASP1_uc011ayw.1_Missense_Mutation_p.D336N|GORASP1_uc003ciz.1_Missense_Mutation_p.D276N NM_031899 NP_114105 Q9BQQ3 GORS1_HUMAN Golgi reassembly stacking protein 1 431 mitotic prophase|protein transport cytosol|Golgi apparatus|membrane ovary(2)|central_nervous_system(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) GCCTGGCTGTCCAGCCCCTCA 0.607 NA 20 47 0 0 0.012319 0 0 BOC 91653 broad.mit.edu 37 3 112991470 112991470 + Nonsense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr3:112991470C>G uc003dzx.2 + 7 1502 c.881C>G c.(880-882)TCA>TGA p.S294* BOC_uc003dzy.2_Nonsense_Mutation_p.S294*|BOC_uc003dzz.2_Nonsense_Mutation_p.S294*|BOC_uc003eab.2_5'UTR NM_033254 NP_150279 Q9BWV1 BOC_HUMAN brother of CDO precursor 294 Ig-like C2-type 3.|Extracellular (Potential). cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1) 6 Epithelial(53;0.227) GAGGAGGACTCAGGCACCTAC 0.617 NA 15 47 0 0 0.024245 0 0 C3orf15 89876 broad.mit.edu 37 3 119434438 119434438 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr3:119434438C>T uc003ede.3 + 6 607 c.530C>T c.(529-531)TCT>TTT p.S177F C3orf15_uc003edc.2_Missense_Mutation_p.S177F|C3orf15_uc010hqy.1_Missense_Mutation_p.S177F|C3orf15_uc010hqz.2_Missense_Mutation_p.S115F|C3orf15_uc011bjd.1_Missense_Mutation_p.S51F|C3orf15_uc011bje.1_Missense_Mutation_p.S157F|C3orf15_uc010hra.1_5'UTR NM_033364 NP_203528 Q7Z4T9 AAT1_HUMAN AAT1-alpha 177 mitochondrion protein binding ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(114;0.186) CCTCCTACTTCTACTAAGCAC 0.368 NA 37 175 0 0 0.01441 0 0 ZBBX 79740 broad.mit.edu 37 3 167023506 167023506 + Missense_Mutation SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr3:167023506G>C uc003fep.2 - 17 1973 c.1650C>G c.(1648-1650)ATC>ATG p.I550M ZBBX_uc011bpc.1_Missense_Mutation_p.I550M|ZBBX_uc003feq.2_Missense_Mutation_p.I521M NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 550 intracellular zinc ion binding ovary(2) 2 AGGATTCTTTGATGTCTTGAG 0.343 NA 16 31 0 0 0.006122 0 0 MCCC1 56922 broad.mit.edu 37 3 182738007 182738007 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr3:182738007C>G uc003fle.2 - 17 2025 c.1888G>C c.(1888-1890)GAC>CAC p.D630H MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Missense_Mutation_p.D513H|MCCC1_uc003flg.2_Missense_Mutation_p.D521H|MCCC1_uc011bqp.1_Missense_Mutation_p.D583H NM_020166 NP_064551 Q96RQ3 MCCA_HUMAN methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) 630 Biotinyl-binding. biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) ACTGGAATGTCAATCTCAATA 0.378 NA 6 46 0 0 0.02938 0 0 MUC4 4585 broad.mit.edu 37 3 195508133 195508133 + Missense_Mutation SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr3:195508133G>A uc011bto.1 - 3 10394 c.9934C>T c.(9934-9936)CCT>TCT p.P3312S MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_5'Flank|MUC4_uc011btg.1_5'Flank|MUC4_uc011bth.1_5'Flank|MUC4_uc011bti.1_5'Flank|MUC4_uc011btj.1_5'Flank|MUC4_uc011btk.1_5'Flank|MUC4_uc011btl.1_5'Flank|MUC4_uc011btm.1_5'Flank|MUC4_uc011btn.1_5'Flank|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACAGGAACAGGGGTGGCGTGA 0.592 NA 3 7 0 0 0.009096 0 0 HTT 3064 broad.mit.edu 37 4 3179079 3179079 + Missense_Mutation SNP G G T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr4:3179079G>T uc011bvq.1 + 35 4579 c.4434G>T c.(4432-4434)TTG>TTT p.L1478F NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 1476 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GCTTTGTATTGAAACAGTTTG 0.299 NA 8 18 3.86212e-05 4.102e-05 0.008291 1 0 EVC 2121 broad.mit.edu 37 4 5754640 5754640 + Silent SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr4:5754640G>A uc003gil.1 + 9 1360 c.1176G>A c.(1174-1176)GAG>GAA p.E392E EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron NM_153717 NP_714928 P57679 EVC_HUMAN Ellis van Creveld syndrome protein 392 muscle organ development integral to membrane ovary(1)|skin(1) 2 Myeloproliferative disorder(84;0.117) TCCAGGAGGAGACCAGGTGCC 0.627 NA 14 38 0 0 0.007413 0 0 TAPT1 202018 broad.mit.edu 37 4 16188416 16188416 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr4:16188416C>T uc010ied.1 - 6 915 c.834G>A c.(832-834)ATG>ATA p.M278I TAPT1_uc011bxd.1_Intron|TAPT1_uc011bxe.1_Missense_Mutation_p.M167I NM_153365 NP_699196 Q6NXT6 TAPT1_HUMAN transmembrane anterior posterior transformation 278 integral to membrane growth hormone-releasing hormone receptor activity 0 TATTAGACATCATGATAGTAA 0.318 NA 4 28 0 0 0.021553 0 0 ARAP2 116984 broad.mit.edu 37 4 36189162 36189162 + Missense_Mutation SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr4:36189162G>C uc003gsq.1 - 8 1927 c.1589C>G c.(1588-1590)TCT>TGT p.S530C ARAP2_uc003gsr.1_Missense_Mutation_p.S530C NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 530 PH 1. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 TGATATAGCAGAAAGGGGAAT 0.308 NA 16 34 0 0 0.012319 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr4:71346978T>C uc011cat.1 + 4 805 c.517T>C c.(517-519)TCT>CCT p.S173P MUC7_uc011cau.1_Missense_Mutation_p.S173P|MUC7_uc003hfj.2_Missense_Mutation_p.S173P|uc011cav.1_RNA NM_001145006 NP_001138478 Q8TAX7 MUC7_HUMAN mucin 7, secreted precursor 173 1.|Thr-rich. extracellular region protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522 NA 3 158 0 0 0.009096 0 0 ART3 419 broad.mit.edu 37 4 76997033 76997033 + Splice_Site SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr4:76997033G>C uc003hjo.2 + 2 111 c.-8_splice c.e2-1 ART3_uc003hji.2_Splice_Site|ART3_uc003hjj.2_Splice_Site|ART3_uc003hjk.2_Splice_Site|ART3_uc010ija.1_Splice_Site|ART3_uc003hjn.2_Splice_Site|ART3_uc003hjp.2_5'Flank|ART3_uc010ijb.2_5'Flank|ART3_uc003hjq.2_5'Flank NM_001130016 NP_001123488 Q13508 NAR3_HUMAN ADP-ribosyltransferase 3 isoform a protein ADP-ribosylation anchored to membrane|integral to plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity ovary(2) 2 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TTTTAATTTAGAAGAGAAAAA 0.358 NA 4 56 0 0 0.014758 0 0 FRAS1 80144 broad.mit.edu 37 4 79362436 79362436 + Nonsense_Mutation SNP G G T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr4:79362436G>T uc003hlb.2 + 41 6090 c.5650G>T c.(5650-5652)GAG>TAG p.E1884* FRAS1_uc003hkw.2_Nonsense_Mutation_p.E1884*|FRAS1_uc010ijj.1_Nonsense_Mutation_p.E304* NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1883 CSPG 7.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 TGGCTGCATTGAGAACACAGG 0.453 NA 6 6 0.00116845 0.00122579 0.021553 1 0 PITX2 5308 broad.mit.edu 37 4 111542381 111542381 + Missense_Mutation SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr4:111542381G>A uc003iad.2 - 4 911 c.329C>T c.(328-330)CCG>CTG p.P110L PITX2_uc003iac.2_Missense_Mutation_p.P117L|PITX2_uc003iae.2_Missense_Mutation_p.P64L|PITX2_uc010iml.2_Intron|PITX2_uc003iaf.2_Missense_Mutation_p.P110L|PITX2_uc003iag.1_Missense_Mutation_p.P117L NM_153426 NP_700475 Q99697 PITX2_HUMAN paired-like homeodomain transcription factor 2 110 Homeobox. P -> L (in RIEG1).|P -> R (in RIEG1). determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) GGACATGTCCGGGTAGCGGTT 0.622 NA 8 30 0 0 0.004482 0 0 PHF17 79960 broad.mit.edu 37 4 129793167 129793167 + Missense_Mutation SNP A A T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr4:129793167A>T uc003igk.2 + 11 2559 c.2279A>T c.(2278-2280)CAG>CTG p.Q760L PHF17_uc003igl.2_Missense_Mutation_p.Q748L|PHF17_uc011cgy.1_Missense_Mutation_p.Q760L NM_199320 NP_955352 Q6IE81 JADE1_HUMAN PHD finger protein 17 long isoform 760 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding 0 GGGGAACGGCAGCAGCAGGGA 0.532 NA 3 24 0 0 0.004672 0 0 DNAJC21 134218 broad.mit.edu 37 5 34954703 34954703 + Missense_Mutation SNP C C T rs141076061 TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr5:34954703C>T uc003jjc.2 + 12 1707 c.1480C>T c.(1480-1482)CGG>TGG p.R494W DNAJC21_uc003jjb.2_Missense_Mutation_p.R539W NM_001012339 NP_001012339 Q5F1R6 DJC21_HUMAN DnaJ homology subfamily A member 5 isoform 2 494 C2H2-type 2. protein folding ribosome heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding breast(1)|skin(1) 2 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) ATTTCCATCTCGGAATAAACT 0.388 NA 11 132 0 0 0.016723 0 0 RICTOR 253260 broad.mit.edu 37 5 38950389 38950389 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr5:38950389C>G uc003jlp.2 - 31 3585 c.3561G>C c.(3559-3561)AAG>AAC p.K1187N RICTOR_uc003jlo.2_Missense_Mutation_p.K1187N|RICTOR_uc010ivf.2_Missense_Mutation_p.K902N NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 1187 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) TACCAAAATTCTTGGTGAATT 0.363 NA 24 176 0 0 0.01892 0 0 RHOBTB3 22836 broad.mit.edu 37 5 95099311 95099311 + Missense_Mutation SNP A A G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr5:95099311A>G uc003klm.2 + 7 1685 c.1148A>G c.(1147-1149)AAA>AGA p.K383R NM_014899 NP_055714 O94955 RHBT3_HUMAN rho-related BTB domain containing 3 383 retrograde transport, endosome to Golgi Golgi apparatus ATP binding|ATPase activity|Rab GTPase binding lung(1)|skin(1) 2 all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.79e-16) TGCATTTTAAAAACACCAGGA 0.328 NA 8 38 0 0 0.006214 0 0 PCDH1 5097 broad.mit.edu 37 5 141244682 141244682 + Nonsense_Mutation SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr5:141244682G>C uc003llq.2 - 3 1331 c.1214C>G c.(1213-1215)TCA>TGA p.S405* PCDH1_uc003llp.2_Nonsense_Mutation_p.S405*|PCDH1_uc011dbf.1_Nonsense_Mutation_p.S383* NM_002587 NP_002578 Q08174 PCDH1_HUMAN protocadherin 1 isoform 1 precursor 405 Extracellular (Potential).|Cadherin 4. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) CACATCCTCTGAGATGTTAGC 0.557 Ovarian(132;1609 1739 4190 14731 45037) NA 6 89 0 0 0.021553 0 0 NEDD9 4739 broad.mit.edu 37 6 11190841 11190841 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr6:11190841C>G uc003mzv.2 - 5 1428 c.1261G>C c.(1261-1263)GAG>CAG p.E421Q NEDD9_uc010joz.2_Missense_Mutation_p.E421Q|NEDD9_uc003mzw.3_Missense_Mutation_p.E275Q NM_006403 NP_006394 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally 421 actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding 0 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) ACACCCATCTCAAGGGCCTGC 0.532 NA 10 54 0 0 0.010729 0 0 MDC1 9656 broad.mit.edu 37 6 30672941 30672941 + Missense_Mutation SNP T T C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr6:30672941T>C uc003nrg.3 - 10 4459 c.4019A>G c.(4018-4020)CAA>CGA p.Q1340R MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.Q947R NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1340 Pro-rich.|Interaction with the PRKDC complex. cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 GGTGACAGGTTGGTCTGTGGA 0.537 NA Other_conserved_DNA_damage_response_genes 4 252 0 0 0.00308 0 0 SHPRH 257218 broad.mit.edu 37 6 146276084 146276084 + Silent SNP A A T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr6:146276084A>T uc003qlf.2 - 2 774 c.375T>A c.(373-375)CCT>CCA p.P125P SHPRH_uc003qld.2_Silent_p.P125P|SHPRH_uc003qle.2_Silent_p.P125P|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Intron|SHPRH_uc003qlk.1_Silent_p.P125P NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 125 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) AACTCTGTGCAGGAAGAAGCT 0.338 NA 11 24 0 0 0.016723 0 0 MAD1L1 8379 broad.mit.edu 37 7 1997277 1997277 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr7:1997277C>T uc003slh.1 - 16 1849 c.1583G>A c.(1582-1584)CGG>CAG p.R528Q MAD1L1_uc003sle.1_Missense_Mutation_p.R257Q|MAD1L1_uc003slf.1_Missense_Mutation_p.R528Q|MAD1L1_uc003slg.1_Missense_Mutation_p.R528Q|MAD1L1_uc010ksh.1_Missense_Mutation_p.R528Q|MAD1L1_uc003sli.1_Missense_Mutation_p.R436Q|MAD1L1_uc010ksi.1_Missense_Mutation_p.R481Q|MAD1L1_uc010ksj.2_Missense_Mutation_p.R528Q NM_001013836 NP_001013858 Q9Y6D9 MD1L1_HUMAN MAD1-like 1 protein 528 Necessary for interaction with NEK2.|Potential. cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) CAGAGCTCGCCGCTCCAGCTG 0.637 NA 14 96 0 0 0.0333 0 0 RADIL 55698 broad.mit.edu 37 7 4917450 4917450 + Silent SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr7:4917450G>A uc003snj.1 - 2 494 c.321C>T c.(319-321)GCC>GCT p.A107A RADIL_uc003sng.1_RNA|RADIL_uc011jwd.1_RNA NM_018059 NP_060529 Q96JH8 RADIL_HUMAN Rap GTPase interactor 107 Ras-associating. cell adhesion|multicellular organismal development|signal transduction protein binding lung(2)|central_nervous_system(2)|pancreas(2)|breast(1) 7 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) CGTACTGGCCGGCCTGCCTGG 0.692 NA 12 88 0 0 0.010729 0 0 ADAM22 53616 broad.mit.edu 37 7 87778374 87778374 + Splice_Site SNP T T A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr7:87778374T>A uc003ujn.2 + 18 1645 c.1566_splice c.e18+2 p.Q522_splice ADAM22_uc003ujk.1_Splice_Site_p.Q522_splice|ADAM22_uc003ujl.1_Splice_Site_p.Q522_splice|ADAM22_uc003ujm.2_Splice_Site_p.Q522_splice|ADAM22_uc003ujo.2_Splice_Site_p.Q522_splice|ADAM22_uc003ujp.1_Splice_Site_p.Q574_splice NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 isoform 1 cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) TCAAGCCAGGTAATTTACAAA 0.388 NA 3 28 0 0 0.004672 0 0 ZNF789 285989 broad.mit.edu 37 7 99084102 99084102 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr7:99084102C>G uc003uqq.1 + 5 488 c.269C>G c.(268-270)TCT>TGT p.S90C ZNF789_uc010lfw.1_5'UTR|ZNF789_uc003uqr.1_Missense_Mutation_p.S32C NM_213603 NP_998768 Q5FWF6 ZN789_HUMAN zinc finger protein 789 isoform 1 90 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) TGGCTAGGTTCTGAAGCCAGA 0.373 NA 4 13 0 0 0.021553 0 0 FOXP2 93986 broad.mit.edu 37 7 114268618 114268618 + Missense_Mutation SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr7:114268618G>A uc003vhb.2 + 4 656 c.282G>A c.(280-282)ATG>ATA p.M94I FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.M119I|FOXP2_uc003vha.2_Missense_Mutation_p.M2I|FOXP2_uc011kmu.1_Missense_Mutation_p.M94I|FOXP2_uc011kmv.1_Missense_Mutation_p.M94I|FOXP2_uc010ljz.1_Missense_Mutation_p.M2I|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_Missense_Mutation_p.M94I|FOXP2_uc003vgw.2_Missense_Mutation_p.M119I|FOXP2_uc003vgx.2_Missense_Mutation_p.M94I|FOXP2_uc003vhd.2_Missense_Mutation_p.M94I|FOXP2_uc003vhc.2_Missense_Mutation_p.M119I NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I 94 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1) 8 TGGCCATGATGACTCCCCAGG 0.468 NA 10 162 0 0 0.016723 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121652803 121652803 + Missense_Mutation SNP A A G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr7:121652803A>G uc003vjy.2 + 12 4098 c.3703A>G c.(3703-3705)ATG>GTG p.M1235V PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 1235 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 AAGTGAAAACATGCTGCACTC 0.393 NA 9 130 0 0 0.004482 0 0 POLR2K 5440 broad.mit.edu 37 8 101163574 101163575 + Splice_Site DNP GG GG AC TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr8:101163574_101163575GG>AC uc003yjf.2 + 2 100 c.-8_splice c.e2-1 NM_005034 NP_005025 P53803 RPAB4_HUMAN DNA directed RNA polymerase II polypeptide K mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction nucleoplasm DNA binding|DNA-directed RNA polymerase activity|zinc ion binding 0 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.59e-09)|all cancers(13;1.74e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) TGTGATTTCAGGGGCTAACAAT 0.416 NA 11 69 0 0 0.004672 0 0 POLR2K 5440 broad.mit.edu 37 8 101164063 101164063 + Missense_Mutation SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr8:101164063G>A uc003yjf.2 + 3 181 c.73G>A c.(73-75)GAA>AAA p.E25K NM_005034 NP_005025 P53803 RPAB4_HUMAN DNA directed RNA polymerase II polypeptide K 25 C4-type (Potential). mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction nucleoplasm DNA binding|DNA-directed RNA polymerase activity|zinc ion binding 0 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.59e-09)|all cancers(13;1.74e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) GTGTCACACAGAAAATGAAAT 0.294 NA 4 18 0 0 0.009096 0 0 MTSS1 9788 broad.mit.edu 37 8 125577908 125577908 + Silent SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr8:125577908G>C uc003yrk.2 - 9 1353 c.819C>G c.(817-819)GTC>GTG p.V273V NDUFB9_uc011lim.1_Intron|MTSS1_uc011lin.1_Silent_p.V7V|MTSS1_uc011lio.1_Silent_p.V163V|MTSS1_uc003yri.2_Silent_p.V73V|MTSS1_uc003yrj.2_Silent_p.V273V|MTSS1_uc003yrl.2_Silent_p.V277V NM_014751 NP_055566 O43312 MTSS1_HUMAN metastasis suppressor 1 273 Ser-rich. actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding ovary(1) 1 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CTCACCTGCAGACACTGGACT 0.507 Esophageal Squamous(160;622 1893 3862 8546 12509) NA 13 39 0 0 0.024245 0 0 GRIN3A 116443 broad.mit.edu 37 9 104433325 104433325 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr9:104433325C>T uc004bbp.1 - 3 1970 c.1369G>A c.(1369-1371)GTC>ATC p.V457I GRIN3A_uc004bbq.1_Missense_Mutation_p.V457I NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 457 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) TCTGAGCTGACGATGGTGGAA 0.478 NA 40 148 0 0 0.01441 0 0 TLR4 7099 broad.mit.edu 37 9 120475322 120475322 + Missense_Mutation SNP T T G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr9:120475322T>G uc004bjz.2 + 3 1207 c.916T>G c.(916-918)TGT>GGT p.C306G TLR4_uc004bka.2_Missense_Mutation_p.C266G|TLR4_uc004bkb.2_Missense_Mutation_p.C106G NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 306 Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 CTTATTTAATTGTTTGACAAA 0.338 NA 12 55 0 0 0.020292 0 0 SLC25A25 114789 broad.mit.edu 37 9 130868088 130868088 + Silent SNP C C A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr9:130868088C>A uc004bte.2 + 6 755 c.726C>A c.(724-726)CTC>CTA p.L242L SLC25A25_uc004btb.2_Silent_p.L276L|SLC25A25_uc004btc.2_Silent_p.L262L|SLC25A25_uc004btd.2_Silent_p.L274L|SLC25A25_uc004btf.2_Silent_p.L139L NM_052901 NP_443133 Q6KCM7 SCMC2_HUMAN solute carrier family 25, member 25 isoform a 242 Solcar 1.|Mitochondrial matrix (Potential). transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding 0 CCAGGTCACTCTGGCGGGGCA 0.577 NA 15 76 6.31663e-08 6.79335e-08 0.024245 1 0 NUP188 23511 broad.mit.edu 37 9 131721149 131721149 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr9:131721149C>G uc004bws.1 + 7 463 c.441C>G c.(439-441)TTC>TTG p.F147L NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 147 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 TCACTTACTTCCAAGATGAAA 0.308 NA 3 28 0 0 0.009096 0 0 NTNG2 84628 broad.mit.edu 37 9 135073778 135073778 + Silent SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr9:135073778C>T uc004cbh.2 + 3 1415 c.639C>T c.(637-639)TTC>TTT p.F213F NM_032536 NP_115925 Q96CW9 NTNG2_HUMAN netrin G2 precursor 213 Laminin N-terminal. axonogenesis anchored to plasma membrane 0 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) ACGTGCGCTTCGAGGTGCGGG 0.667 NA 9 37 0 0 0.006214 0 0 ANAPC2 29882 broad.mit.edu 37 9 140077680 140077680 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr9:140077680C>G uc004clr.1 - 6 1256 c.1183G>C c.(1183-1185)GAC>CAC p.D395H ANAPC2_uc004clq.1_Missense_Mutation_p.D251H NM_013366 NP_037498 Q9UJX6 ANC2_HUMAN anaphase-promoting complex subunit 2 395 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity ovary(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) GTGATGATGTCACACGTGTTG 0.617 NA 39 139 0 0 0.010771 0 0 Unknown 0 broad.mit.edu 37 X 80185639 80185639 + Missense_Mutation SNP A A T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chrX:80185639A>T uc004eec.1 + 1 712 c.538A>T c.(538-540)AGT>TGT p.S180C SubName: Full=cDNA FLJ16670 fis, clone THYMU3001133, highly similar to Voltage-dependent anion-selective channel protein 1; SubName: Full=Voltage-dependent anion channel 1, isoform CRA_a; NA AGCAGGAAACAGTAACACGCG 0.493 NA 16 96 0 0 0.008871 0 0 FAM122C 159091 broad.mit.edu 37 X 133941655 133941655 + Silent SNP T T G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chrX:133941655T>G uc004exz.1 + 1 432 c.27T>G c.(25-27)GGT>GGG p.G9G FAM122C_uc010nru.1_Silent_p.G45G|FAM122C_uc004exw.2_Silent_p.G9G|FAM122C_uc004exx.2_RNA|FAM122C_uc011mvq.1_RNA|FAM122C_uc004exy.1_Silent_p.G9G NM_138819 NP_620174 Q6P4D5 F222C_HUMAN hypothetical protein LOC159091 9 0 Acute lymphoblastic leukemia(192;0.000127) TGAAACTAGGTTTCAAGTCGC 0.522 NA 18 125 0 0 0.01892 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994960 140994960 + Silent SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chrX:140994960G>A uc004fbt.2 + 4 2056 c.1770G>A c.(1768-1770)CTG>CTA p.L590L MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 590 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) AGGACTCCCTGTCTCCTCACT 0.567 NA HNSCC(15;0.026) 7 481 0 0 0.00308 0 0 MTMR1 8776 broad.mit.edu 37 X 149901147 149901147 + Nonsense_Mutation SNP C C A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chrX:149901147C>A uc004fei.2 + 9 1136 c.1001C>A c.(1000-1002)TCA>TAA p.S334* MTMR1_uc011mya.1_Nonsense_Mutation_p.S240*|MTMR1_uc004feg.1_Nonsense_Mutation_p.S334*|MTMR1_uc004feh.1_Nonsense_Mutation_p.S342*|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_RNA NM_003828 NP_003819 Q13613 MTMR1_HUMAN myotubularin-related protein 1 334 Myotubularin phosphatase. plasma membrane protein tyrosine phosphatase activity ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) AACGCACAGTCACACAAGCTT 0.423 NA 9 54 4.68919e-08 5.07501e-08 0.008291 1 0 F8 2157 broad.mit.edu 37 X 154197823 154197823 + Silent SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chrX:154197823C>G uc004fmt.2 - 7 963 c.792G>C c.(790-792)CTG>CTC p.L264L NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 264 Plastocyanin-like 2.|F5/8 type A 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GGCATCCAATCAGACCTGTAA 0.418 NA 27 67 0 0 0.034045 0 0 CD37 951 broad.mit.edu 37 19 49841253 49841253 + Frame_Shift_Del DEL G G - TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr19:49841253delG uc002pnd.2 + 5 535 c.414delG c.(412-414)GCGfs p.A138fs uc002pnb.1_Intron|CD37_uc002pnc.2_RNA|CD37_uc010yam.1_Frame_Shift_Del_p.A138fs|CD37_uc010yan.1_Frame_Shift_Del_p.A70fs|CD37_uc002pnf.3_Frame_Shift_Del_p.A110fs|CD37_uc002pne.2_Frame_Shift_Del_p.A70fs NM_001774 NP_001765 P11049 CD37_HUMAN CD37 antigen isoform A 138 Extracellular (Potential). integral to membrane 0 all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443) AGGAGACCGCGGCCGAGGAGA 0.632 NA 17 49 --- --- --- --- NA NA NA NA NA ALS2CR11 151254 broad.mit.edu 37 2 202352352 202352352 + Frame_Shift_Del DEL T T - TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr2:202352352delT uc002uye.2 - 15 1903 c.1855delA c.(1855-1857)ATTfs p.I619fs ALS2CR11_uc002uyf.2_Frame_Shift_Del_p.I1816fs|ALS2CR11_uc010fti.2_3'UTR NM_152525 NP_689738 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 619 large_intestine(1)|ovary(1)|skin(1) 3 CCTCTTTTAATTTTTTTTGGC 0.323 NA 7 55 --- --- --- --- NA NA NA NA NA NBEAL1 65065 broad.mit.edu 37 2 204030880 204030882 + In_Frame_Del DEL AAG AAG - TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 AAG AAG - - AAG AAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr2:204030880_204030882delAAG uc002uzt.3 + 36 5969_5971 c.5636_5638delAAG c.(5635-5640)AAAGAA>AAA p.E1881del NBEAL1_uc002uzs.3_In_Frame_Del_p.E591del NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 isoform 3 1881 binding ovary(1)|skin(1) 2 AGTGATGAGAAAGAAGAACAGGA 0.281 NA 15 33 --- --- --- --- NA NA NA NA NA LRRC14 9684 broad.mit.edu 37 8 145746499 145746502 + Frame_Shift_Del DEL TGAG TGAG - TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 TGAG TGAG - - TGAG TGAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr8:145746499_145746502delTGAG uc003zdk.1 + 4 1265_1268 c.1119_1122delTGAG c.(1117-1122)ACTGAGfs p.T373fs LRRC14_uc003zdl.1_Frame_Shift_Del_p.T373fs|LRRC14_uc003zdo.2_5'Flank NM_014665 NP_055480 Q15048 LRC14_HUMAN leucine rich repeat containing 14 373_374 LRR 4. 0 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TGGAGCTGACTGAGTGTCAGCTCG 0.593 NA 10 50 --- --- --- --- NA NA NA NA NA