Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut PIK3R3 8503 broad.mit.edu 37 1 46511672 46511672 + Missense_Mutation SNP C C T TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr1:46511672C>T uc001cpb.3 - 9 1861 c.1105G>A c.(1105-1107)GAG>AAG p.E369K PIK3R3_uc009vyb.2_Missense_Mutation_p.E310K|PIK3R3_uc009vyc.2_Missense_Mutation_p.E386K|PIK3R3_uc001cpc.3_Missense_Mutation_p.E369K|PIK3R3_uc010olw.1_Missense_Mutation_p.E415K|PIK3R3_uc010olv.1_Missense_Mutation_p.E159K NM_003629 NP_003620 Q92569 P55G_HUMAN phosphoinositide-3-kinase, regulatory subunit 3 369 SH2 2. insulin receptor signaling pathway|platelet activation|T cell costimulation 1-phosphatidylinositol-3-kinase activity|protein binding 0 Acute lymphoblastic leukemia(166;0.155) AGCAAGTCCTCTGCTTGTACT 0.398 NA 20 80 0 0 0 0 ASPM 259266 broad.mit.edu 37 1 197091638 197091638 + Missense_Mutation SNP C C A TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr1:197091638C>A uc001gtu.2 - 14 3735 c.3478G>T c.(3478-3480)GCT>TCT p.A1160S ASPM_uc001gtv.2_Missense_Mutation_p.A1160S|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 1160 CH 2. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TGACATATAGCGTCAAATGGC 0.413 NA 5 12 1.24e-05 2.22e-05 1 0 PGBD2 267002 broad.mit.edu 37 1 249212056 249212056 + Missense_Mutation SNP G G T TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr1:249212056G>T uc001ifh.2 + 3 1420 c.1273G>T c.(1273-1275)GCT>TCT p.A425S PGBD2_uc001ifg.2_Missense_Mutation_p.A174S|PGBD2_uc009xhd.2_Missense_Mutation_p.A422S NM_170725 NP_733843 Q6P3X8 PGBD2_HUMAN hypothetical protein LOC267002 isoform a 425 ovary(1) 1 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TTGCTCCAATGCTGTGGGCAT 0.517 NA 7 38 5.18e-06 9.47e-06 1 0 TALDO1 6888 broad.mit.edu 37 11 755976 755976 + Silent SNP G G A TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr11:755976G>A uc001lqz.2 + 2 245 c.195G>A c.(193-195)GCG>GCA p.A65A TALDO1_uc010qwl.1_Silent_p.A65A|TALDO1_uc001lra.2_Silent_p.A65A NM_006755 NP_006746 P37837 TALDO_HUMAN transaldolase 1 65 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712) TGGAGGAGGCGATTGCCTATG 0.632 NA 4 27 0 0 0 0 ATM 472 broad.mit.edu 37 11 108206667 108206667 + Missense_Mutation SNP A A C TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr11:108206667A>C uc001pkb.1 + 56 8632 c.8247A>C c.(8245-8247)AAA>AAC p.K2749N ATM_uc009yxr.1_Missense_Mutation_p.K2749N|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.K1401N NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 2749 PI3K/PI4K. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GGAAGAGGAAATTAACTATCT 0.328 NA D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 15 13 0 0 0 0 C3AR1 719 broad.mit.edu 37 12 8212707 8212707 + Silent SNP G G A TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr12:8212707G>A uc001qtv.1 - 2 167 c.75C>T c.(73-75)CTC>CTT p.L25L NM_004054 NP_004045 Q16581 C3AR_HUMAN complement component 3a receptor 1 25 Helical; Name=1; (Potential). blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity ovary(1) 1 Kidney(36;0.0893) TGACCATGGAGAGAATTACTG 0.488 NA 30 68 0 0 0 0 CUX2 23316 broad.mit.edu 37 12 111758147 111758147 + Missense_Mutation SNP G G T TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr12:111758147G>T uc001tsa.1 + 17 2487 c.2334G>T c.(2332-2334)GAG>GAT p.E778D NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 778 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 TCAAGTCCGAGATCGGCGACG 0.721 NA 18 39 5.39e-06 9.79e-06 1 0 GTF3A 2971 broad.mit.edu 37 13 28004707 28004707 + Missense_Mutation SNP A A T TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr13:28004707A>T uc001ure.2 + 4 631 c.437A>T c.(436-438)CAT>CTT p.H146L GTF3A_uc001urf.2_5'UTR|GTF3A_uc001urg.2_RNA NM_002097 NP_002088 Q92664 TF3A_HUMAN transcription factor IIIA 146 C2H2-type 4; atypical. regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter nucleoplasm DNA binding|protein binding|RNA binding|zinc ion binding 0 Lung SC(185;0.0156) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158) TTTAAGAAACATCAGCAGCTG 0.383 NA 9 9 0 0 0 0 MYCBP2 23077 broad.mit.edu 37 13 77662989 77662989 + Missense_Mutation SNP G G A TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr13:77662989G>A uc001vkf.2 - 62 10680 c.10589C>T c.(10588-10590)GCT>GTT p.A3530V MYCBP2_uc010aev.2_Missense_Mutation_p.A2934V|MYCBP2_uc001vke.2_Missense_Mutation_p.A150V NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 3530 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) AACTCGACAAGCAGATTTCCT 0.353 NA 17 20 0 0 0 0 JUB 84962 broad.mit.edu 37 14 23447604 23447604 + Nonsense_Mutation SNP G G A TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr14:23447604G>A uc001whz.2 - 2 1433 c.1057C>T c.(1057-1059)CAG>TAG p.Q353* JUB_uc001why.2_5'Flank NM_032876 NP_116265 Q96IF1 JUB_HUMAN ajuba isoform 1 353 LIM zinc-binding 1. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding 0 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0122) TCCAGGGCCTGGCAGGCATTG 0.542 NA 124 49 0 0 0 0 TM9SF1 10548 broad.mit.edu 37 14 24679887 24679887 + Silent SNP A A G TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr14:24679887A>G uc010tob.1 - 4 1159 c.525T>C c.(523-525)CCT>CCC p.P175P CHMP4A_uc001wni.2_Silent_p.P192P|CHMP4A_uc010toc.1_RNA|CHMP4A_uc001wnj.2_Silent_p.P192P NM_006405 NP_006396 O15321 TM9S1_HUMAN transmembrane 9 superfamily member 1 isoform a Error:Variant_position_missing_in_O15321_after_alignment autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane ovary(1) 1 GBM - Glioblastoma multiforme(265;0.0183) CAAAGCCCATAGGCCGAGAAA 0.507 NA 3 152 0 0 0 0 SOS2 6655 broad.mit.edu 37 14 50597456 50597456 + Missense_Mutation SNP T T C TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr14:50597456T>C uc001wxs.3 - 20 3198 c.3100A>G c.(3100-3102)AAA>GAA p.K1034E SOS2_uc010ans.2_5'UTR|SOS2_uc010tql.1_Missense_Mutation_p.K1001E NM_006939 NP_008870 Q07890 SOS2_HUMAN son of sevenless homolog 2 1034 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2) 2 all_epithelial(31;0.000822)|Breast(41;0.0065) CCAGGAGATTTTAAGGAAAAA 0.383 NA 6 56 0 0 0 0 EML5 161436 broad.mit.edu 37 14 89091394 89091394 + Silent SNP C C T TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr14:89091394C>T uc001xxg.2 - 36 5004 c.4818G>A c.(4816-4818)GCG>GCA p.A1606A EML5_uc001xxf.2_Silent_p.A393A|EML5_uc001xxh.1_Silent_p.A737A NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 1598 WD 23. cytoplasm|microtubule ovary(3) 3 TGTGAGCTCTCGCCACGATTC 0.502 NA 6 67 0 0 0 0 KLC1 3831 broad.mit.edu 37 14 104167058 104167058 + Missense_Mutation SNP C C T TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr14:104167058C>T uc001yno.2 + 14 2025 c.1717C>T c.(1717-1719)CGC>TGC p.R573C KLC1_uc010tyf.1_Silent_p.T616T|KLC1_uc001yns.2_RNA|XRCC3_uc001yny.3_Intron|XRCC3_uc001ynx.3_Intron|XRCC3_uc001ynz.3_Intron|XRCC3_uc001yoa.3_Intron NM_182923 NP_891553 Q07866 KLC1_HUMAN kinesin light chain 1 isoform 2 573 blood coagulation|microtubule-based movement|stress granule disassembly cytosol|kinesin complex|microtubule microtubule motor activity|protein binding 0 Melanoma(154;0.155)|all_epithelial(191;0.19) AAGACGCCACCGCTAACGTGA 0.627 NA 11 70 0 0 0 0 HERC2 8924 broad.mit.edu 37 15 28467346 28467346 + Missense_Mutation SNP T T C TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr15:28467346T>C uc001zbj.2 - 36 5586 c.5480A>G c.(5479-5481)AAC>AGC p.N1827S NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 1827 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TTCCTCAACGTTGTCACAACT 0.458 NA 9 29 0 0 0 0 ACTC1 70 broad.mit.edu 37 15 35082732 35082732 + Missense_Mutation SNP A A G TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr15:35082732A>G uc001ziu.1 - 7 1258 c.1015T>C c.(1015-1017)TAC>CAC p.Y339H uc001zit.1_Intron NM_005159 NP_005150 P68032 ACTC_HUMAN cardiac muscle alpha actin 1 proprotein 339 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) CAGACAGAGTATTTACGCTCA 0.478 NA 21 69 0 0 0 0 PKD1 5310 broad.mit.edu 37 16 2160250 2160250 + Missense_Mutation SNP C C G TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr16:2160250C>G uc002cos.1 - 15 5127 c.4918G>C c.(4918-4920)GGT>CGT p.G1640R PKD1_uc002cot.1_Missense_Mutation_p.G1640R NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 1640 Extracellular (Potential).|PKD 12. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 TAGCGGCCACCGCCCACCACC 0.617 NA 19 13 0 0 0 0 TAOK2 9344 broad.mit.edu 37 16 30002124 30002124 + Missense_Mutation SNP A A G rs140227077 TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr16:30002124A>G uc002dvc.1 + 18 3248 c.2465A>G c.(2464-2466)CAG>CGG p.Q822R uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron NM_004783 NP_004774 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 GATGAGACCCAGGAGGCAGAG 0.612 NA 18 34 0 0 0 0 ACACA 31 broad.mit.edu 37 17 35620680 35620680 + Missense_Mutation SNP G G A TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr17:35620680G>A uc002hnm.2 - 11 1317 c.1126C>T c.(1126-1128)CGT>TGT p.R376C ACACA_uc002hnk.2_Missense_Mutation_p.R298C|ACACA_uc002hnl.2_Missense_Mutation_p.R318C|ACACA_uc002hnn.2_Missense_Mutation_p.R376C|ACACA_uc002hno.2_Missense_Mutation_p.R413C|ACACA_uc010cuz.2_Missense_Mutation_p.R376C NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 376 Biotin carboxylation.|ATP-grasp. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GAGCAATCACGACCAAACAAA 0.433 NA 19 180 0 0 0 0 PSME3 10197 broad.mit.edu 37 17 40986550 40986550 + Missense_Mutation SNP A A G TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr17:40986550A>G uc002ibr.2 + 3 320 c.94A>G c.(94-96)AAT>GAT p.N32D PSME3_uc002ibp.2_5'UTR|PSME3_uc002ibq.2_Missense_Mutation_p.N32D|PSME3_uc002ibs.2_Missense_Mutation_p.N43D|PSME3_uc010whd.1_5'UTR NM_005789 NP_005780 P61289 PSME3_HUMAN proteasome activator subunit 3 isoform 1 32 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome activator complex endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding 0 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) CTTGGTGGCAAATTTTTTCCC 0.328 NA 33 86 0 0 0 0 RTTN 25914 broad.mit.edu 37 18 67801778 67801778 + Splice_Site SNP C C T TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr18:67801778C>T uc002lkp.2 - 23 2954 c.2886_splice c.e23-1 p.W962_splice RTTN_uc002lko.2_Splice_Site|RTTN_uc010xfb.1_Splice_Site_p.W50_splice NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) ATTAACAGACCTATTTCATAA 0.333 NA 4 31 0 0 0 0 SAFB2 9667 broad.mit.edu 37 19 5604923 5604923 + Missense_Mutation SNP T T C TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr19:5604923T>C uc002mcd.2 - 10 1533 c.1321A>G c.(1321-1323)AAC>GAC p.N441D NM_014649 NP_055464 Q14151 SAFB2_HUMAN scaffold attachment factor B2 441 RRM. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding 0 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) CTGCGGGCGTTCGTTACCACT 0.517 NA 7 47 0 0 0 0 S1PR5 53637 broad.mit.edu 37 19 10624909 10624909 + Missense_Mutation SNP A A T TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr19:10624909A>T uc002mot.1 - 2 836 c.779T>A c.(778-780)TTT>TAT p.F260Y S1PR5_uc002mou.1_Missense_Mutation_p.F260Y NM_030760 NP_110387 Q9H228 S1PR5_HUMAN endothelial differentiation, sphingolipid 260 Helical; Name=6; (By similarity). integral to membrane|plasma membrane lysosphingolipid and lysophosphatidic acid receptor activity central_nervous_system(1)|pancreas(1) 2 ACATGCCACAAAGGCCAGGAG 0.716 NA 7 4 0 0 0 0 ZNF574 64763 broad.mit.edu 37 19 42584699 42584699 + Silent SNP C C T TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr19:42584699C>T uc002osm.3 + 2 2110 c.1941C>T c.(1939-1941)TCC>TCT p.S647S ZNF574_uc002osk.3_Silent_p.S737S NM_022752 NP_073589 Q6ZN55 ZN574_HUMAN zinc finger protein 574 647 C2H2-type 15; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.059) CCTTCCCCTCCTCACTGCGGC 0.697 NA 16 64 0 0 0 0 IRGQ 126298 broad.mit.edu 37 19 44097383 44097383 + Missense_Mutation SNP C C T TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr19:44097383C>T uc002oww.2 - 2 785 c.667G>A c.(667-669)GCA>ACA p.A223T IRGQ_uc010eiv.2_Missense_Mutation_p.A223T NM_001007561 NP_001007562 Q8WZA9 IRGQ_HUMAN immunity-related GTPase family, Q 223 protein binding ovary(1)|pancreas(1) 2 Prostate(69;0.0199) TCTAGCCGTGCGCTGCCCAGG 0.682 NA 22 46 0 0 0 0 LILRB1 10859 broad.mit.edu 37 19 55144748 55144748 + Missense_Mutation SNP C C G TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr19:55144748C>G uc002qgj.2 + 8 1580 c.1240C>G c.(1240-1242)CCC>GCC p.P414A LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.P414A|LILRB1_uc002qgk.2_Missense_Mutation_p.P414A|LILRB1_uc002qgm.2_Missense_Mutation_p.P414A|LILRB1_uc010erq.2_Missense_Mutation_p.P414A|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 414 Extracellular (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) CCCCAGTGACCCCCTGGAGCT 0.622 NA HNSCC(37;0.09) 3 78 0 0 0 0 SF3B1 23451 broad.mit.edu 37 2 198285265 198285265 + Missense_Mutation SNP T T C TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr2:198285265T>C uc002uue.2 - 4 350 c.302A>G c.(301-303)TAT>TGT p.Y101C SF3B1_uc010fsk.1_RNA|SF3B1_uc002uuf.2_Missense_Mutation_p.Y101C|SF3B1_uc002uug.2_Missense_Mutation_p.Y101C NM_012433 NP_036565 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1 isoform 1 101 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding pancreas(3)|ovary(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.246) AAATGGATCATACTGAAAAGA 0.358 NA 37 23 0 0 0 0 KIF1A 547 broad.mit.edu 37 2 241689923 241689923 + Missense_Mutation SNP A A G TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr2:241689923A>G uc002vzy.2 - 26 2743 c.2597T>C c.(2596-2598)CTG>CCG p.L866P KIF1A_uc010fzk.2_Missense_Mutation_p.L967P|KIF1A_uc002vzz.1_Missense_Mutation_p.L967P NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 866 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) ACGGTGTACCAGGGGAACGGG 0.652 NA 3 52 0 0 0 0 CHGB 1114 broad.mit.edu 37 20 5903296 5903296 + Missense_Mutation SNP A A G TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr20:5903296A>G uc002wmg.2 + 4 812 c.506A>G c.(505-507)GAG>GGG p.E169G CHGB_uc010zqz.1_5'UTR NM_001819 NP_001810 P05060 SCG1_HUMAN chromogranin B precursor 169 Poly-Glu. extracellular region hormone activity breast(3)|skin(2)|ovary(1) 6 GAGGAGGAGGAGGGAGAGAAC 0.512 NA 3 47 0 0 0 0 FOXS1 2307 broad.mit.edu 37 20 30433105 30433105 + Missense_Mutation SNP G G T TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr20:30433105G>T uc002wwt.1 - 1 316 c.241C>A c.(241-243)CGC>AGC p.R81S NM_004118 NP_004109 O43638 FOXS1_HUMAN forkhead box S1 81 Fork-head. anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|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 ovary(1) 1 CGGTCATCGCGGGGCACCTTG 0.637 NA 17 62 6.5e-13 1.29e-12 1 0 GSS 2937 broad.mit.edu 37 20 33519179 33519179 + Silent SNP G G A TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr20:33519179G>A uc002xbg.2 - 11 1151 c.1071C>T c.(1069-1071)GCC>GCT p.A357A GSS_uc010zun.1_Silent_p.A229A|GSS_uc010zuo.1_Silent_p.A246A|GSS_uc010zup.1_Silent_p.A288A|GSS_uc002xbh.2_RNA|GSS_uc010gez.1_Silent_p.A87A NM_000178 NP_000169 P48637 GSHB_HUMAN glutathione synthetase 357 nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) ACCGGCTAGGGGCAGCAAGGG 0.562 NA 9 33 0 0 0 0 CABIN1 23523 broad.mit.edu 37 22 24439496 24439496 + Missense_Mutation SNP C C T TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr22:24439496C>T uc002zzi.1 + 6 603 c.476C>T c.(475-477)CCC>CTC p.P159L CABIN1_uc002zzj.1_Missense_Mutation_p.P159L|CABIN1_uc002zzl.1_Missense_Mutation_p.P159L|CABIN1_uc010guk.1_Missense_Mutation_p.P114L|CABIN1_uc002zzk.1_Missense_Mutation_p.P114L NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 159 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 GACCACTGGCCCTGTTTGGAT 0.512 NA 15 83 0 0 0 0 MYO18B 84700 broad.mit.edu 37 22 26164180 26164180 + Silent SNP T T C TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr22:26164180T>C uc003abz.1 + 4 547 c.297T>C c.(295-297)CCT>CCC p.P99P MYO18B_uc003aca.1_5'UTR|MYO18B_uc010guy.1_5'UTR|MYO18B_uc010guz.1_5'UTR|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 99 Ser-rich. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 CAAGCTCTCCTGGGAGCTCAG 0.582 NA 16 136 0 0 0 0 PARP15 165631 broad.mit.edu 37 3 122354785 122354785 + Silent SNP C C T TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr3:122354785C>T uc003efm.2 + 12 1941 c.1875C>T c.(1873-1875)TTC>TTT p.F625F PARP15_uc003efn.2_Silent_p.F430F|PARP15_uc003efo.1_Silent_p.F372F|PARP15_uc003efp.1_Silent_p.F391F|PARP15_uc011bjt.1_Silent_p.F322F NM_001113523 NP_001106995 Q460N3 PAR15_HUMAN poly (ADP-ribose) polymerase family, member 15 603 PARP catalytic. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NAD+ ADP-ribosyltransferase activity lung(3)|upper_aerodigestive_tract(1)|ovary(1) 5 GBM - Glioblastoma multiforme(114;0.0531) CTGGAGTCTTCACAAAGGGAC 0.488 NA 16 40 0 0 0 0 DNAJC13 23317 broad.mit.edu 37 3 132219737 132219737 + Missense_Mutation SNP C C T TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr3:132219737C>T uc003eor.2 + 39 4581 c.4516C>T c.(4516-4518)CGG>TGG p.R1506W NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1506 heat shock protein binding ovary(1)|breast(1) 2 GGATCTCTGTCGGGTACTATA 0.373 NA 35 79 0 0 0 0 MED12L 116931 broad.mit.edu 37 3 151112629 151112629 + Nonsense_Mutation SNP C C T TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr3:151112629C>T uc003eyp.2 + 37 5727 c.5689C>T c.(5689-5691)CAA>TAA p.Q1897* MED12L_uc011bnz.1_Nonsense_Mutation_p.Q1757* NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 1897 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ACTTCTCAGGCAAGCCCAGAC 0.512 NA 16 101 0 0 0 0 DGKG 1608 broad.mit.edu 37 3 185975671 185975671 + Silent SNP C C T TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr3:185975671C>T uc003fqa.2 - 17 2019 c.1482G>A c.(1480-1482)GGG>GGA p.G494G DGKG_uc003fqb.2_Silent_p.G455G|DGKG_uc003fqc.2_Silent_p.G469G|DGKG_uc011brx.1_Silent_p.G435G NM_001346 NP_001337 P49619 DGKG_HUMAN diacylglycerol kinase gamma isoform 1 494 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) AGCCAACTGTCCCATCTCCAC 0.448 NA 46 63 0 0 0 0 PGM2 55276 broad.mit.edu 37 4 37848566 37848566 + Missense_Mutation SNP T T G TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr4:37848566T>G uc011byb.1 + 9 1095 c.1022T>G c.(1021-1023)GTG>GGG p.V341G PGM2_uc011bya.1_Missense_Mutation_p.V202G|PGM2_uc011byc.1_Missense_Mutation_p.V181G NM_018290 NP_060760 Q96G03 PGM2_HUMAN phosphoglucomutase 2 341 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity ovary(1) 1 GAATGGAGGGTGTTTTCAGGC 0.428 NA 8 73 0 0 0 0 CWH43 80157 broad.mit.edu 37 4 49030675 49030675 + Silent SNP C C A TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr4:49030675C>A uc003gyv.2 + 10 1478 c.1296C>A c.(1294-1296)ATC>ATA p.I432I CWH43_uc011bzl.1_Silent_p.I405I NM_025087 NP_079363 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog 432 GPI anchor biosynthetic process integral to membrane skin(2)|ovary(1) 3 CTGCTGCCATCTGGCCTTTCA 0.448 NA 9 32 1.77e-08 3.33e-08 1 0 ADH1C 126 broad.mit.edu 37 4 100268199 100268199 + Missense_Mutation SNP C C T TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr4:100268199C>T uc003huu.2 - 3 308 c.223G>A c.(223-225)GAA>AAA p.E75K NM_000669 NP_000660 P00326 ADH1G_HUMAN class I alcohol dehydrogenase, gamma subunit 75 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) CAAACACTTTCCACGATGCCG 0.512 NA Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of 56 189 0 0 0 0 SYNPO2 171024 broad.mit.edu 37 4 119951990 119951990 + Missense_Mutation SNP C C A TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr4:119951990C>A uc003icm.3 + 4 2256 c.2060C>A c.(2059-2061)GCC>GAC p.A687D SYNPO2_uc010ina.2_Missense_Mutation_p.A687D|SYNPO2_uc010inb.2_Missense_Mutation_p.A687D|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.A615D NM_001128933 NP_001122405 Q9UMS6 SYNP2_HUMAN synaptopodin 2 isoform b 687 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding ovary(2) 2 TTGCAGGAGGCCAAAAGGAGA 0.463 NA 11 34 1.59e-06 2.92e-06 1 0 ANKH 56172 broad.mit.edu 37 5 14758681 14758681 + Missense_Mutation SNP T T A TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr5:14758681T>A uc003jfm.3 - 3 671 c.340A>T c.(340-342)ATC>TTC p.I114F NM_054027 NP_473368 Q9HCJ1 ANKH_HUMAN progressive ankylosis protein 114 Extracellular (Potential). locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity upper_aerodigestive_tract(1) 1 AGTTTATTGATAATGTAGTAT 0.418 NA 12 47 0 0 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140724693 140724693 + Missense_Mutation SNP G G C TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr5:140724693G>C uc003ljm.1 + 1 1093 c.1093G>C c.(1093-1095)GAA>CAA p.E365Q PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.E125Q|PCDHGA3_uc011dap.1_Missense_Mutation_p.E365Q NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 365 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTTGGAAGAGAAATTGCTCT 0.443 NA 34 44 0 0 0 0 RNF145 153830 broad.mit.edu 37 5 158630622 158630622 + Missense_Mutation SNP C C A TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr5:158630622C>A uc003lxp.2 - 2 317 c.4G>T c.(4-6)GCT>TCT p.A2S RNF145_uc011ddy.1_Missense_Mutation_p.A16S|RNF145_uc003lxo.1_Missense_Mutation_p.A30S|RNF145_uc011ddz.1_Missense_Mutation_p.A19S|RNF145_uc010jiq.1_Missense_Mutation_p.A32S|RNF145_uc011dea.1_Missense_Mutation_p.A18S NM_144726 NP_653327 Q96MT1 RN145_HUMAN ring finger protein 145 2 integral to membrane zinc ion binding ovary(3)|lung(1)|skin(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCCTTTGCAGCCATGTTGttt 0.363 NA 15 30 6.32e-08 1.18e-07 1 0 TBC1D9B 23061 broad.mit.edu 37 5 179320402 179320402 + Missense_Mutation SNP C C T TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr5:179320402C>T uc003mlh.2 - 5 680 c.643G>A c.(643-645)GAG>AAG p.E215K TBC1D9B_uc003mli.2_Missense_Mutation_p.E215K|TBC1D9B_uc003mlj.2_Missense_Mutation_p.E215K NM_198868 NP_942568 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 215 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(1)|skin(1) 2 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGGATGCTCTCGGGGAAGAGC 0.587 NA 17 14 0 0 0 0 FRS3 10817 broad.mit.edu 37 6 41738404 41738404 + Missense_Mutation SNP C C A TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr6:41738404C>A uc003orc.1 - 7 1676 c.1432G>T c.(1432-1434)GGC>TGC p.G478C NM_006653 NP_006644 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 478 fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding ovary(2) 2 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTGGCGGTGCCATCGTCTCGG 0.627 NA 17 64 3.41e-10 6.51e-10 1 0 PKHD1 5314 broad.mit.edu 37 6 51524466 51524466 + Silent SNP C C T TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr6:51524466C>T uc003pah.1 - 61 10734 c.10458G>A c.(10456-10458)TTG>TTA p.L3486L NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3486 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) TTTTGTTCCCCAATAGAAAAA 0.453 NA 14 32 0 0 0 0 FAM135A 57579 broad.mit.edu 37 6 71247998 71247998 + Silent SNP C C T TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr6:71247998C>T uc003pfj.2 + 18 4255 c.4122C>T c.(4120-4122)CTC>CTT p.L1374L FAM135A_uc003pfi.2_Silent_p.L1178L|FAM135A_uc003pfh.2_Silent_p.L1161L|FAM135A_uc003pfl.2_Silent_p.L1041L|FAM135A_uc003pfn.2_Silent_p.L580L|FAM135A_uc003pfo.1_Silent_p.L745L|FAM135A_uc010kan.1_Intron NM_001162529 NP_001156001 Q9P2D6 F135A_HUMAN hypothetical protein LOC57579 isoform c 1374 central_nervous_system(1) 1 CTCTAGGTCTCTGGTTTATGC 0.308 NA 11 14 0 0 0 0 TBX20 57057 broad.mit.edu 37 7 35288434 35288434 + Missense_Mutation SNP G G C TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr7:35288434G>C uc011kas.1 - 3 411 c.400C>G c.(400-402)CGG>GGG p.R134G NM_001077653 NP_001071121 Q9UMR3 TBX20_HUMAN T-box transcription factor TBX20 134 T-box. nucleus DNA binding central_nervous_system(1) 1 AAGGACACCCGGATGGTTGGA 0.478 NA 5 48 0 0 0 0 URGCP 55665 broad.mit.edu 37 7 43917489 43917489 + Missense_Mutation SNP T T C TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr7:43917489T>C uc003tiw.2 - 6 1630 c.1573A>G c.(1573-1575)AGG>GGG p.R525G URGCP_uc003tiu.2_Missense_Mutation_p.R482G|URGCP_uc003tiv.2_Missense_Mutation_p.R450G|URGCP_uc003tix.2_Missense_Mutation_p.R516G|URGCP_uc003tiy.2_Missense_Mutation_p.R482G|URGCP_uc003tiz.2_Missense_Mutation_p.R482G|URGCP_uc011kbj.1_Missense_Mutation_p.R482G NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 525 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 AGCTCAGCCCTGTGCTTCTCA 0.647 NA 3 89 0 0 0 0 MGC26647 219557 broad.mit.edu 37 7 88423535 88423535 + Missense_Mutation SNP A A G TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr7:88423535A>G uc003ujv.2 - 2 904 c.722T>C c.(721-723)CTG>CCG p.L241P ZNF804B_uc011khi.1_Intron NM_152706 NP_689919 Q8TBZ9 CG062_HUMAN hypothetical protein LOC219557 241 0 Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169) STAD - Stomach adenocarcinoma(171;0.229) CTCAGAATCCAGAGTGATGTG 0.403 NA 15 23 0 0 0 0 AKAP9 10142 broad.mit.edu 37 7 91659267 91659267 + Nonsense_Mutation SNP G G T TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr7:91659267G>T uc003ulg.2 + 15 4432 c.4207G>T c.(4207-4209)GGA>TGA p.G1403* AKAP9_uc003ule.2_Nonsense_Mutation_p.G1415*|AKAP9_uc003ulf.2_Nonsense_Mutation_p.G1403*|AKAP9_uc003uli.2_Nonsense_Mutation_p.G1028* NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 1415 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AATGTACCCTGGAAGTTGTGT 0.269 NA T BRAF papillary thyroid 47 47 1.4e-22 2.82e-22 1 0 C7orf64 84060 broad.mit.edu 37 7 92161858 92161858 + Missense_Mutation SNP A A G TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr7:92161858A>G uc003ulz.2 + 3 484 c.443A>G c.(442-444)AAT>AGT p.N148S C7orf64_uc011khu.1_Missense_Mutation_p.N148S|C7orf64_uc003uma.2_Missense_Mutation_p.N148S NM_032120 NP_115496 Q5RL73 CG064_HUMAN hypothetical protein LOC84060 148 nucleotide binding ovary(2) 2 ACTACTGAAAATAAAGGTATG 0.204 NA 22 18 0 0 0 0 PXDNL 137902 broad.mit.edu 37 8 52320774 52320774 + Missense_Mutation SNP G G A TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr8:52320774G>A uc003xqu.3 - 17 3511 c.3410C>T c.(3409-3411)TCG>TTG p.S1137L PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 1137 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GGTGGCAGCCGAATCCACGGC 0.522 NA 10 125 0 0 0 0 PXDNL 137902 broad.mit.edu 37 8 52336259 52336259 + Silent SNP G G A TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr8:52336259G>A uc003xqu.3 - 14 1772 c.1671C>T c.(1669-1671)TTC>TTT p.F557F NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 557 Ig-like C2-type 4. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CATCCACATGGAATTTACCAC 0.433 NA 9 38 0 0 0 0 KIAA1429 25962 broad.mit.edu 37 8 95531399 95531399 + Missense_Mutation SNP C C T TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr8:95531399C>T uc003ygo.1 - 9 2340 c.2327G>A c.(2326-2328)AGC>AAC p.S776N KIAA1429_uc003ygp.2_Missense_Mutation_p.S776N|KIAA1429_uc010maz.1_RNA NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 776 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) CTGAAAATGGCTGAACAGTTC 0.423 NA 8 55 0 0 0 0 UBR5 51366 broad.mit.edu 37 8 103287969 103287969 + Silent SNP T T A TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr8:103287969T>A uc003ykr.1 - 46 6630 c.6597A>T c.(6595-6597)GTA>GTT p.V2199V UBR5_uc003yks.1_Silent_p.V2199V NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 2199 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CTTCCATGAATACCCTGCCGA 0.423 NA 12 32 0 0 0 0 MTSS1 9788 broad.mit.edu 37 8 125597387 125597387 + Missense_Mutation SNP C C A TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr8:125597387C>A uc003yrk.2 - 6 935 c.401G>T c.(400-402)CGC>CTC p.R134L MTSS1_uc003yrj.2_Missense_Mutation_p.R134L|MTSS1_uc003yrl.2_Missense_Mutation_p.R134L NM_014751 NP_055566 O43312 MTSS1_HUMAN metastasis suppressor 1 134 IMD.|Potential. 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) TATCTCTTGGCGGGCTTTCTT 0.363 NA 49 115 9.87e-16 1.97e-15 1 0 RFX3 5991 broad.mit.edu 37 9 3263051 3263051 + Nonsense_Mutation SNP G G A TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr9:3263051G>A uc003zhr.2 - 14 1801 c.1489C>T c.(1489-1491)CGA>TGA p.R497* RFX3_uc010mhd.2_Nonsense_Mutation_p.R497*|RFX3_uc003zhs.1_Nonsense_Mutation_p.R497* NM_134428 NP_602304 P48380 RFX3_HUMAN regulatory factor X3 isoform b 497 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) GTGTATCTTCGCAGAGTCTGG 0.483 NA 23 98 0 0 0 0 FAM75A6 389730 broad.mit.edu 37 9 43627757 43627757 + Silent SNP A A G TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr9:43627757A>G uc011lrb.1 - 4 959 c.930T>C c.(928-930)TGT>TGC p.C310C NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 310 integral to membrane 0 CTTCCATCTGACAGGTCTCTG 0.532 NA 5 409 0 0 0 0 BSPRY 54836 broad.mit.edu 37 9 116131934 116131934 + Missense_Mutation SNP C C T TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr9:116131934C>T uc004bhg.3 + 6 769 c.721C>T c.(721-723)CCC>TCC p.P241S BSPRY_uc010muw.2_3'UTR NM_017688 NP_060158 Q5W0U4 BSPRY_HUMAN B-box and SPRY domain containing 241 B30.2/SPRY. calcium ion transport cytoplasm|membrane zinc ion binding breast(1) 1 GACAGTCAGCCCCTTCCTGCA 0.577 NA 14 84 0 0 0 0 COL5A1 1289 broad.mit.edu 37 9 137676879 137676879 + Missense_Mutation SNP A A C TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr9:137676879A>C uc004cfe.2 + 30 2911 c.2529A>C c.(2527-2529)GAA>GAC p.E843D NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 843 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) ATGGCCCTGAAGGCCCAAAGG 0.622 NA 34 29 0 0 0 0 SEC16A 9919 broad.mit.edu 37 9 139354513 139354513 + Missense_Mutation SNP C C T TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr9:139354513C>T uc004chx.2 - 14 5363 c.5054G>A c.(5053-5055)CGG>CAG p.R1685Q SEC16A_uc004chu.2_5'Flank|SEC16A_uc004chv.3_Missense_Mutation_p.R1075Q|SEC16A_uc004chw.2_Missense_Mutation_p.R1685Q|SEC16A_uc010nbn.2_Missense_Mutation_p.R1685Q NM_014866 NP_055681 O15027 SC16A_HUMAN SEC16 homolog A 1507 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane 0 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GGCAGGCATCCGTCCGGACAT 0.592 NA 11 8 0 0 0 0 MXRA5 25878 broad.mit.edu 37 X 3241944 3241944 + Silent SNP C C T TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chrX:3241944C>T uc004crg.3 - 5 1939 c.1782G>A c.(1780-1782)TCG>TCA p.S594S NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 594 Ig-like C2-type 2. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) GCAATGTCACCGACTCCCCTG 0.473 NA 5 14 0 0 0 0 GUCY2F 2986 broad.mit.edu 37 X 108718934 108718934 + Silent SNP A A G TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chrX:108718934A>G uc004eod.3 - 2 508 c.232T>C c.(232-234)TTA>CTA p.L78L GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 78 Extracellular (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 TCAATGGCTAATCGCGCAGCA 0.527 NA OREG0019905 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 17 0 0 0 0 ATP11C 286410 broad.mit.edu 37 X 138832233 138832233 + Nonsense_Mutation SNP C C A TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chrX:138832233C>A uc004faz.2 - 24 2887 c.2788G>T c.(2788-2790)GAA>TAA p.E930* ATP11C_uc004fax.2_Nonsense_Mutation_p.E138*|ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Nonsense_Mutation_p.E930* NM_173694 NP_775965 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C isoform a 930 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(5)|large_intestine(3) 8 Acute lymphoblastic leukemia(192;0.000127) ATGTGCTGTTCCAGTAGACTA 0.393 NA 5 59 1.24e-05 2.22e-05 1 0 ARHGAP4 393 broad.mit.edu 37 X 153186904 153186904 + Missense_Mutation SNP T T A TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chrX:153186904T>A uc004fjk.1 - 3 391 c.349A>T c.(349-351)AGC>TGC p.S117C ARHGAP4_uc011mzf.1_Missense_Mutation_p.S94C|ARHGAP4_uc004fjl.1_Missense_Mutation_p.S117C|ARHGAP4_uc010nup.1_RNA NM_001666 NP_001657 P98171 RHG04_HUMAN Rho GTPase activating protein 4 isoform 2 117 apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(1) 1 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGGGCCGCGCTCTCCCGGCTC 0.692 NA 7 7 0 0 0 0 SPRYD5 84767 broad.mit.edu 37 11 55658941 55658943 + In_Frame_Del DEL GTG GTG - TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr11:55658941_55658943delGTG uc010rip.1 + 7 1284_1286 c.1192_1194delGTG c.(1192-1194)GTGdel p.V399del SPRYD5_uc010riq.1_In_Frame_Del_p.V256del NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 399 B30.2/SPRY. intracellular zinc ion binding 0 all_epithelial(135;0.226) CTCCCCACTTGTGGTGCAATATG 0.448 NA 19 63 --- --- --- --- NA NA NA NA MLL2 8085 broad.mit.edu 37 12 49444269 49444276 + Frame_Shift_Del DEL GGGAACCA GGGAACCA - TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr12:49444269_49444276delGGGAACCA uc001rta.3 - 11 3095_3102 c.3095_3102delTGGTTCCC c.(3094-3102)CTGGTTCCCfs p.L1032fs NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1032_1034 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GGGAGTTTTGGGGAACCAGGGAATGCTG 0.611 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 9 45 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7578241 7578241 + Frame_Shift_Del DEL A A - TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a341860-44fb-493e-bd46-aeb6610842de a6b12650-683a-4397-9098-f44def6bca1f g.chr17:7578241delA uc002gim.2 - 6 802 c.608delT c.(607-609)GTGfs p.V203fs TP53_uc002gig.1_Frame_Shift_Del_p.V203fs|TP53_uc002gih.2_Frame_Shift_Del_p.V203fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.V71fs|TP53_uc010cng.1_Frame_Shift_Del_p.V71fs|TP53_uc002gii.1_Frame_Shift_Del_p.V71fs|TP53_uc010cnh.1_Frame_Shift_Del_p.V203fs|TP53_uc010cni.1_Frame_Shift_Del_p.V203fs|TP53_uc002gij.2_Frame_Shift_Del_p.V203fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.V110fs|TP53_uc002gio.2_Frame_Shift_Del_p.V71fs|TP53_uc010vug.1_Frame_Shift_Del_p.V164fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 203 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). VE -> LV (in a sporadic cancer; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|V -> L (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.V203E(6)|p.V203L(3)|p.V203fs*44(3)|p.V203V(3)|p.V203fs*6(2)|p.V203M(2)|p.K164_P219del(1)|p.N200fs*4(1)|p.V203A(1)|p.E204fs*5(1)|p.V203_E204>V*(1)|p.V203_E204>LV(1)|p.G199fs*42(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) CAAATACTCCACACGCAAATT 0.552 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 36 17 --- --- --- --- NA NA NA NA