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 PTCHD2 57540 broad.mit.edu 37 1 11596425 11596426 + Missense_Mutation DNP GC GC TT TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr1:11596425_11596426GC>TT uc001ash.3 + 21 3999_4000 c.3861_3862GC>TT c.(3859-3864)CGGCAC>CGTTAC p.H1288Y NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1288 Extracellular (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) AGGCCGTGCGGCACGTGGGCGT 0.673 NA 25 29 0 0 0 0 EPHA10 284656 broad.mit.edu 37 1 38227471 38227471 + Silent SNP G G A TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr1:38227471G>A uc009vvi.2 - 3 542 c.456C>T c.(454-456)ATC>ATT p.I152I EPHA10_uc001cbw.3_Silent_p.I152I NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN EPH receptor A10 isofom 3 152 Extracellular (Potential). extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity breast(4)|stomach(3)|lung(1) 8 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CGATCGTGTCGATTTTGCGGG 0.662 NA 13 28 0 0 0 0 HOOK1 51361 broad.mit.edu 37 1 60314747 60314747 + Silent SNP T T G TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr1:60314747T>G uc009wad.2 + 13 1236 c.1134T>G c.(1132-1134)GTT>GTG p.V378V HOOK1_uc001czo.2_Silent_p.V378V|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Silent_p.V336V NM_015888 NP_056972 Q9UJC3 HOOK1_HUMAN hook homolog 1 378 Potential.|Sufficient for interaction with microtubules. early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport FHF complex|microtubule identical protein binding ovary(1)|breast(1) 2 all_cancers(7;0.000129) GACATTAGGTTCAAGATCTTC 0.338 NA 20 51 0 0 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144879069 144879069 + Silent SNP G G A TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr1:144879069G>A uc001elw.3 - 27 4672 c.4381C>T c.(4381-4383)CTG>TTG p.L1461L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.L1417L|PDE4DIP_uc001elv.3_Silent_p.L468L NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1461 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TCCTCAGCCAGCTTCTCTTCT 0.517 NA T PDGFRB MPD 15 221 0 0 0 0 NOTCH2NL 388677 broad.mit.edu 37 1 145281460 145281460 + Silent SNP A A G TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr1:145281460A>G uc001emn.3 + 4 760 c.390A>G c.(388-390)AAA>AAG p.K130K NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Silent_p.K130K|NOTCH2NL_uc001emo.2_Silent_p.K130K|NOTCH2NL_uc010oyh.1_RNA NM_203458 NP_982283 Q7Z3S9 NT2NL_HUMAN Notch homolog 2 N-terminal like protein 130 EGF-like 4. cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding ovary(1) 1 TCTCCTGCAAATGCCTCACAG 0.537 NA 37 404 0 0 0 0 CHRNB2 1141 broad.mit.edu 37 1 154543837 154543837 + Missense_Mutation SNP C C T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr1:154543837C>T uc001ffg.2 + 5 802 c.538C>T c.(538-540)CGC>TGC p.R180C NM_000748 NP_000739 P17787 ACHB2_HUMAN neuronal nicotinic acetylcholine receptor beta 2 180 Extracellular (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) GACCTACGACCGCACAGAGAT 0.577 NA 5 48 0 0 0 0 SLC9A11 284525 broad.mit.edu 37 1 173490489 173490489 + Missense_Mutation SNP C C G TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr1:173490489C>G uc001giz.2 - 22 3113 c.2690G>C c.(2689-2691)GGA>GCA p.G897A SLC9A11_uc009wwe.2_Missense_Mutation_p.G455A NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 897 cNMP. sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 CATTTCACCTCCTTTACAAAT 0.318 NA 7 51 0 0 0 0 CEP350 9857 broad.mit.edu 37 1 179983098 179983098 + Missense_Mutation SNP C C G TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr1:179983098C>G uc001gnt.2 + 10 1893 c.1510C>G c.(1510-1512)CTA>GTA p.L504V CEP350_uc009wxl.2_Missense_Mutation_p.L503V|CEP350_uc001gnu.2_Missense_Mutation_p.L338V NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 504 centrosome|nucleus|spindle ovary(4) 4 TATAAAGAAACTAGCTTCATC 0.368 NA 18 43 0 0 0 0 XPR1 9213 broad.mit.edu 37 1 180794421 180794421 + Missense_Mutation SNP C C T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr1:180794421C>T uc001goi.2 + 9 1267 c.1075C>T c.(1075-1077)CTT>TTT p.L359F XPR1_uc009wxm.2_Missense_Mutation_p.L359F|XPR1_uc009wxn.2_Missense_Mutation_p.L359F NM_004736 NP_004727 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 359 Helical; (Potential). integral to plasma membrane G-protein coupled receptor activity 0 GGTTTTCTTCCTTATCAACCC 0.423 NA 40 117 0 0 0 0 FAM5C 339479 broad.mit.edu 37 1 190067993 190067993 + Missense_Mutation SNP T T C TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr1:190067993T>C uc001gse.1 - 8 1688 c.1456A>G c.(1456-1458)ATT>GTT p.I486V FAM5C_uc010pot.1_Missense_Mutation_p.I384V NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 486 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TCAAAGCCAATATAGTGATCG 0.522 NA 22 158 0 0 0 0 CDNF 441549 broad.mit.edu 37 10 14870200 14870200 + Missense_Mutation SNP T T C TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr10:14870200T>C uc001inb.1 - 2 225 c.187A>G c.(187-189)ATA>GTA p.I63V CDNF_uc010qbv.1_Missense_Mutation_p.I63V|CDNF_uc001inc.1_5'UTR NM_001029954 NP_001025125 Q49AH0 CDNF_HUMAN arginine-rich, mutated in early stage 63 extracellular region growth factor activity 0 TCTTTCTCTATAGTGTCCAGC 0.368 NA 29 105 0 0 0 0 PCDH15 65217 broad.mit.edu 37 10 55955480 55955480 + Missense_Mutation SNP G G T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr10:55955480G>T uc001jju.1 - 11 1663 c.1268C>A c.(1267-1269)CCT>CAT p.P423H PCDH15_uc010qhq.1_Missense_Mutation_p.P428H|PCDH15_uc010qhr.1_Missense_Mutation_p.P423H|PCDH15_uc010qhs.1_Missense_Mutation_p.P428H|PCDH15_uc010qht.1_Missense_Mutation_p.P423H|PCDH15_uc010qhu.1_Missense_Mutation_p.P423H|PCDH15_uc001jjv.1_Missense_Mutation_p.P401H|PCDH15_uc010qhv.1_Missense_Mutation_p.P423H|PCDH15_uc010qhw.1_Missense_Mutation_p.P386H|PCDH15_uc010qhx.1_Missense_Mutation_p.P423H|PCDH15_uc010qhy.1_Missense_Mutation_p.P428H|PCDH15_uc010qhz.1_Missense_Mutation_p.P423H|PCDH15_uc010qia.1_Missense_Mutation_p.P401H|PCDH15_uc010qib.1_Missense_Mutation_p.P401H|PCDH15_uc001jjw.2_Missense_Mutation_p.P423H NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 423 Cadherin 4.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TATTCTTAAAGGTGAAGTCAA 0.368 NA HNSCC(58;0.16) 10 108 4.69e-08 5.6e-08 1 0 ZNF365 22891 broad.mit.edu 37 10 64148197 64148197 + Silent SNP G G A TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr10:64148197G>A uc001jmc.2 + 3 1101 c.786G>A c.(784-786)GAG>GAA p.E262E ZNF365_uc001jly.3_Silent_p.E277E|ZNF365_uc001jmb.3_Silent_p.E262E|ZNF365_uc001jlz.3_Silent_p.E262E|ZNF365_uc001jma.3_RNA NM_199451 NP_955523 Q70YC4 TALAN_HUMAN zinc finger protein 365 isoform C Error:Variant_position_missing_in_Q70YC4_after_alignment ovary(1)|skin(1) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) CGGCAGCTGAGAAGGAGGTTC 0.458 NA 7 57 0 0 0 0 TET1 80312 broad.mit.edu 37 10 70333405 70333405 + Missense_Mutation SNP C C T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr10:70333405C>T uc001jok.3 + 2 1815 c.1310C>T c.(1309-1311)CCA>CTA p.P437L NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 437 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 CCTGTTCCTCCAAATCCAATT 0.468 NA 27 102 0 0 0 0 AVPI1 60370 broad.mit.edu 37 10 99437758 99437758 + Silent SNP C C T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr10:99437758C>T uc001koh.1 - 3 423 c.312G>A c.(310-312)CTG>CTA p.L104L AVPI1_uc001koi.2_Silent_p.L104L NM_021732 NP_068378 Q5T686 AVPI1_HUMAN vasopressin-induced protein, 32kDa 104 cell cycle breast(1) 1 Colorectal(252;0.162) Epithelial(162;8.37e-11)|all cancers(201;7.94e-09) GTGGGTTGGCCAGTGCAGAGT 0.522 NA 26 62 0 0 0 0 C10orf125 282969 broad.mit.edu 37 10 135168929 135168929 + Missense_Mutation SNP A A T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr10:135168929A>T uc001lmt.2 - 6 428 c.410T>A c.(409-411)CTC>CAC p.L137H C10orf125_uc001lms.2_3'UTR NM_001098483 NP_001091953 A2VDF0 FUCM_HUMAN hypothetical protein LOC282969 isoform 1 137 fucose metabolic process fucose binding|racemase and epimerase activity, acting on carbohydrates and derivatives 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;6.94e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06) GTTTCCGTAGAGGGCCGTCTC 0.662 NA 5 22 0 0 0 0 LUZP2 338645 broad.mit.edu 37 11 24750809 24750809 + Missense_Mutation SNP G G A TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr11:24750809G>A uc001mqs.2 + 2 391 c.157G>A c.(157-159)GAT>AAT p.D53N LUZP2_uc009yif.2_5'UTR|LUZP2_uc009yig.2_Missense_Mutation_p.D53N NM_001009909 NP_001009909 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 precursor 53 Potential. extracellular region ovary(1)|skin(1) 2 AAGAGAACTTGATGGAATTAA 0.403 NA 4 62 0 0 0 0 LGALS12 85329 broad.mit.edu 37 11 63276452 63276452 + Missense_Mutation SNP G G A TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr11:63276452G>A uc001nxa.2 + 3 768 c.427G>A c.(427-429)GAG>AAG p.E143K LGALS12_uc001nxb.2_Missense_Mutation_p.E143K|LGALS12_uc001nxc.2_Missense_Mutation_p.E144K|LGALS12_uc001nxd.2_Missense_Mutation_p.E82K|LGALS12_uc001nxe.2_Missense_Mutation_p.E82K|LGALS12_uc009yot.2_Missense_Mutation_p.E103K NM_033101 NP_149092 Q96DT0 LEG12_HUMAN lectin, galactoside-binding, soluble, 12 isoform 143 Galectin 1. apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding ovary(2) 2 CTTCGGGAATGAGGAAGTGAA 0.592 NA 10 27 0 0 0 0 SLC29A2 3177 broad.mit.edu 37 11 66134014 66134014 + Missense_Mutation SNP C C T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr11:66134014C>T uc001oht.2 - 8 984 c.755G>A c.(754-756)AGT>AAT p.S252N SLC29A2_uc001ohs.2_Missense_Mutation_p.S132N|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Missense_Mutation_p.S132N|SLC29A2_uc001ohu.2_Missense_Mutation_p.S252N|SLC29A2_uc001ohv.2_Intron|uc001ohw.1_5'Flank NM_001532 NP_001523 Q14542 S29A2_HUMAN solute carrier family 29 (nucleoside 252 cell proliferation|nucleobase, nucleoside and nucleotide metabolic process basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus nucleoside transmembrane transporter activity ovary(1) 1 TTTCTGGGGACTACTGGGAAT 0.577 NA 7 52 0 0 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27829391 27829391 + Missense_Mutation SNP G G T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr12:27829391G>T uc001ric.1 + 18 1869 c.1492G>T c.(1492-1494)GGG>TGG p.G498W PPFIBP1_uc010sjr.1_Missense_Mutation_p.G329W|PPFIBP1_uc001rib.1_Missense_Mutation_p.G481W|PPFIBP1_uc001ria.2_Missense_Mutation_p.G467W|PPFIBP1_uc001rid.1_Missense_Mutation_p.G345W|PPFIBP1_uc001rif.1_5'Flank NM_003622 NP_003613 Q86W92 LIPB1_HUMAN PTPRF interacting protein binding protein 1 498 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) soft_tissue(3)|kidney(1)|skin(1) 5 Lung SC(9;0.0873) CAGGCCATTTGGGACCCTTCC 0.552 NA 11 227 7.04e-09 8.48e-09 1 0 SENP1 29843 broad.mit.edu 37 12 48468185 48468185 + Missense_Mutation SNP T T C TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr12:48468185T>C uc001rqx.2 - 8 1308 c.862A>G c.(862-864)ACT>GCT p.T288A SENP1_uc001rqw.2_Missense_Mutation_p.T288A|SENP1_uc001rqy.2_Missense_Mutation_p.T89A|SENP1_uc001rqz.2_Missense_Mutation_p.T89A|SENP1_uc009zkx.2_Missense_Mutation_p.T288A NM_014554 NP_055369 Q9P0U3 SENP1_HUMAN sentrin/SUMO-specific protease 1 288 activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus endopeptidase activity|SUMO-specific protease activity pancreas(2)|lung(1) 3 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) TGATGAAGAGTACCAGAATCT 0.408 NA 18 98 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49446699 49446699 + Missense_Mutation SNP T T C TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr12:49446699T>C uc001rta.3 - 8 1111 c.1111A>G c.(1111-1113)AGA>GGA p.R371G NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 371 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 ACCACTTACCTGCTACACACC 0.547 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 30 91 0 0 0 0 AQP6 363 broad.mit.edu 37 12 50367087 50367087 + Missense_Mutation SNP C C T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr12:50367087C>T uc001rvr.1 + 1 468 c.131C>T c.(130-132)TCA>TTA p.S44L AQP6_uc001rvp.1_Intron|AQP6_uc001rvq.1_RNA NM_001652 NP_001643 Q13520 AQP6_HUMAN aquaporin 6 44 Helical; (Potential). excretion|odontogenesis integral to plasma membrane|transport vesicle membrane anion channel activity|water channel activity 0 GGCGTGGGCTCAGTCATGCGC 0.607 NA 23 80 0 0 0 0 BBS10 79738 broad.mit.edu 37 12 76741323 76741323 + Missense_Mutation SNP A A T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr12:76741323A>T uc001syd.1 - 2 526 c.442T>A c.(442-444)TAC>AAC p.Y148N NM_024685 NP_078961 Q8TAM1 BBS10_HUMAN Bardet-Biedl syndrome 10 148 cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis cilium ATP binding ovary(1)|skin(1) 2 CTACTTAGGTACTGGTCCATA 0.393 NA Bardet-Biedl_syndrome 11 65 0 0 0 0 HAL 3034 broad.mit.edu 37 12 96377733 96377733 + Missense_Mutation SNP T T C TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr12:96377733T>C uc001tem.1 - 15 1540 c.1243A>G c.(1243-1245)AAG>GAG p.K415E HAL_uc009zti.1_RNA|HAL_uc010suw.1_Missense_Mutation_p.K207E|HAL_uc010sux.1_Missense_Mutation_p.K415E NM_002108 NP_002099 P42357 HUTH_HUMAN histidine ammonia-lyase 415 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity ovary(2)|skin(1) 3 L-Histidine(DB00117) ATGATGTTCTTCACAAATGCT 0.338 NA 21 39 0 0 0 0 DHRS1 115817 broad.mit.edu 37 14 24760813 24760813 + Missense_Mutation SNP A A G TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr14:24760813A>G uc001woj.1 - 7 942 c.673T>C c.(673-675)TCT>CCT p.S225P DHRS1_uc010aln.1_Intron|DHRS1_uc001wok.2_Missense_Mutation_p.S225P NM_138452 NP_612461 Q96LJ7 DHRS1_HUMAN dehydrogenase/reductase (SDR family) member 1 225 endoplasmic reticulum binding|oxidoreductase activity 0 GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442) GTTTCCGCAGATGAGAAGGCT 0.488 NA 34 218 0 0 0 0 SYT16 83851 broad.mit.edu 37 14 62567240 62567240 + Nonsense_Mutation SNP C C T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr14:62567240C>T uc001xfu.1 + 6 1950 c.1753C>T c.(1753-1755)CAG>TAG p.Q585* SYT16_uc010tse.1_Nonsense_Mutation_p.Q143* NM_031914 NP_114120 Q17RD7 SYT16_HUMAN synaptotagmin XIV-like 585 C2 2. central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GGCCCTCTTTCAGCTGTCTGA 0.502 NA 15 31 0 0 0 0 SYNE2 23224 broad.mit.edu 37 14 64496627 64496627 + Missense_Mutation SNP C C G TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr14:64496627C>G uc001xgm.2 + 44 6959 c.6729C>G c.(6727-6729)AAC>AAG p.N2243K SYNE2_uc001xgl.2_Missense_Mutation_p.N2243K NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2243 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CTGTGCAAAACTTGGACGGTC 0.338 NA 5 25 0 0 0 0 MTFMT 123263 broad.mit.edu 37 15 65313852 65313852 + Missense_Mutation SNP C C A TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr15:65313852C>A uc002aof.3 - 4 671 c.645G>T c.(643-645)ATG>ATT p.M215I NM_139242 NP_640335 Q96DP5 FMT_HUMAN mitochondrial methionyl-tRNA formyltransferase 215 mitochondrion methionyl-tRNA formyltransferase activity|methyltransferase activity ovary(2) 2 Tetrahydrofolic acid(DB00116) GGAATTATACCATGTTGGCAC 0.383 NA 20 50 1.02e-10 1.24e-10 1 0 RGS11 8786 broad.mit.edu 37 16 321023 321023 + Silent SNP C C A TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr16:321023C>A uc002cgj.1 - 13 942 c.939G>T c.(937-939)GGG>GGT p.G313G RGS11_uc002cgi.1_Silent_p.G292G|RGS11_uc010bqs.1_Silent_p.G302G|RGS11_uc002cgk.1_Silent_p.G129G NM_183337 NP_899180 O94810 RGS11_HUMAN regulator of G-protein signalling 11 isoform 1 313 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity lung(1)|pancreas(1) 2 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) AGTGGGCCCGCCCCACGGGGT 0.682 NA 3 36 0.00024832 0.000276538 1 0 SRRM2 23524 broad.mit.edu 37 16 2812431 2812431 + Missense_Mutation SNP G G T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr16:2812431G>T uc002crk.2 + 11 2451 c.1902G>T c.(1900-1902)AGG>AGT p.R634S SRRM2_uc002crj.1_Missense_Mutation_p.R538S|SRRM2_uc002crl.1_Missense_Mutation_p.R634S|SRRM2_uc010bsu.1_Missense_Mutation_p.R538S NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 634 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 TACGACGCAGGTCTCGTAGTA 0.622 NA 22 80 3.6e-14 4.48e-14 1 0 ACSM2A 123876 broad.mit.edu 37 16 20480920 20480920 + Missense_Mutation SNP G G T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr16:20480920G>T uc010bwe.2 + 5 714 c.475G>T c.(475-477)GCT>TCT p.A159S ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Missense_Mutation_p.A80S|ACSM2A_uc002dhf.3_Missense_Mutation_p.A159S|ACSM2A_uc002dhg.3_Missense_Mutation_p.A159S|ACSM2A_uc010vay.1_Missense_Mutation_p.A80S NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 159 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 GGCTATTGTTGCTGGGGATGA 0.458 NA 52 128 2.76e-25 3.52e-25 1 0 DNAH3 55567 broad.mit.edu 37 16 21069448 21069448 + Missense_Mutation SNP T T A TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr16:21069448T>A uc010vbe.1 - 27 3883 c.3883A>T c.(3883-3885)ACC>TCC p.T1295S NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1295 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) ACCTCCTGGGTCCAAAAGATG 0.478 NA 16 36 0 0 0 0 GTF3C1 2975 broad.mit.edu 37 16 27476027 27476027 + Missense_Mutation SNP C C G TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr16:27476027C>G uc002dov.1 - 34 5526 c.5486G>C c.(5485-5487)AGA>ACA p.R1829T GTF3C1_uc002dou.2_Missense_Mutation_p.R1829T NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1829 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 GGGGTCTTCTCTCTGGATGTC 0.672 NA 17 69 0 0 0 0 CNOT1 23019 broad.mit.edu 37 16 58592411 58592411 + Missense_Mutation SNP G G T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr16:58592411G>T uc002env.2 - 18 2591 c.2298C>A c.(2296-2298)TTC>TTA p.F766L CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.F766L|CNOT1_uc002enx.2_Missense_Mutation_p.F766L|CNOT1_uc002enz.1_Missense_Mutation_p.F195L NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 766 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) CAATACCACTGAATGCAGTGG 0.463 NA 10 35 6.4e-05 7.32e-05 1 0 TP53 7157 broad.mit.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C rs121912666 TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr17:7578190T>C uc002gim.2 - 6 853 c.659A>G c.(658-660)TAT>TGT p.Y220C TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.2_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.1_Missense_Mutation_p.Y181C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 220 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> N (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y220C(205)|p.Y220N(12)|p.Y220H(9)|p.Y220S(9)|p.0?(7)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(2)|p.Y127C(2)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.?(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*1(1)|p.Y220fs*2(1)|p.V218fs*26(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) AGGCGGCTCATAGGGCACCAC 0.557 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 12 20 0 0 0 0 DNAH2 146754 broad.mit.edu 37 17 7734767 7734767 + Silent SNP G G C TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr17:7734767G>C uc002giu.1 + 80 12533 c.12519G>C c.(12517-12519)GGG>GGC p.G4173G DNAH2_uc010cnm.1_Silent_p.G1111G NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 4173 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) ACTATGAGGGGACTCAAAAAC 0.527 NA 12 37 0 0 0 0 RNF135 84282 broad.mit.edu 37 17 29326075 29326075 + Missense_Mutation SNP T T C TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr17:29326075T>C uc002hfz.2 + 5 1301 c.1165T>C c.(1165-1167)TTC>CTC p.F389L RNF135_uc002hga.2_3'UTR|RNF135_uc010csm.2_3'UTR|RNF135_uc002hgb.2_3'UTR NM_032322 NP_115698 Q8IUD6 RN135_HUMAN ring finger protein 135 isoform 1 389 B30.2/SPRY. innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response cytosol protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding p.?(1) skin(2) 2 all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255) AAAGCTTGCCTTCTATTCAGT 0.532 NA 25 71 0 0 0 0 MED13 9969 broad.mit.edu 37 17 60032881 60032881 + Missense_Mutation SNP T T A TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr17:60032881T>A uc002izo.2 - 26 5907 c.5830A>T c.(5830-5832)ATG>TTG p.M1944L NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1944 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 GATGTCTGCATATTTAGAGTC 0.343 NA 23 134 0 0 0 0 SLC26A11 284129 broad.mit.edu 37 17 78223009 78223009 + Missense_Mutation SNP A A G TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr17:78223009A>G uc002jyb.1 + 16 1848 c.1579A>G c.(1579-1581)ACT>GCT p.T527A SLC26A11_uc002jyc.1_Missense_Mutation_p.T527A|SLC26A11_uc002jyd.1_Missense_Mutation_p.T527A|SLC26A11_uc010dhv.1_Missense_Mutation_p.T527A NM_173626 NP_775897 Q86WA9 S2611_HUMAN solute carrier family 26, member 11 527 Extracellular (Potential).|STAS. endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity 0 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CATCGACTACACTGTGGTGCT 0.672 NA 5 25 0 0 0 0 ROCK1 6093 broad.mit.edu 37 18 18534911 18534911 + Missense_Mutation SNP T T C TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr18:18534911T>C uc002kte.2 - 31 4627 c.3686A>G c.(3685-3687)CAT>CGT p.H1229R NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 1229 PH.|Auto-inhibitory.|Phorbol-ester/DAG-type. 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) AATAAACTCATGGCCTTTGTG 0.413 NA 11 37 0 0 0 0 B4GALT6 9331 broad.mit.edu 37 18 29211087 29211087 + Missense_Mutation SNP C C T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr18:29211087C>T uc002kwz.3 - 6 908 c.611G>A c.(610-612)CGT>CAT p.R204H B4GALT6_uc010dma.2_Missense_Mutation_p.R165H|B4GALT6_uc010dmb.2_Missense_Mutation_p.R165H NM_004775 NP_004766 Q9UBX8 B4GT6_HUMAN beta-1,4-galactosyltransferase 6 204 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding 0 OV - Ovarian serous cystadenocarcinoma(10;0.00791) AAGCATCGCACGGTTAAAAGG 0.398 NA 19 37 0 0 0 0 S1PR4 8698 broad.mit.edu 37 19 3179854 3179854 + Missense_Mutation SNP T T A TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr19:3179854T>A uc002lxg.2 + 1 1089 c.1064T>A c.(1063-1065)CTG>CAG p.L355Q NM_003775 NP_003766 O95977 S1PR4_HUMAN sphingosine-1-phosphate receptor 4 precursor 355 Cytoplasmic (By similarity). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity lung(1)|skin(1) 2 GACAGCTCTCTGAGGCCAAGG 0.682 NA 30 89 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9073955 9073955 + Missense_Mutation SNP C C G TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr19:9073955C>G uc002mkp.2 - 3 13695 c.13491G>C c.(13489-13491)TTG>TTC p.L4497F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4499 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGCTTGTGTTCAACATATCTG 0.453 NA 28 76 0 0 0 0 ZNF433 163059 broad.mit.edu 37 19 12126659 12126659 + Missense_Mutation SNP T T G TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr19:12126659T>G uc002msy.1 - 4 1194 c.1023A>C c.(1021-1023)AAA>AAC p.K341N uc002msx.1_Intron|ZNF433_uc002msz.1_Missense_Mutation_p.K306N NM_001080411 NP_001073880 Q8N7K0 ZN433_HUMAN zinc finger protein 433 341 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCCCACAATGTTTACATTCAT 0.388 NA 6 58 0 0 0 0 ZNF99 7652 broad.mit.edu 37 19 22940586 22940586 + Missense_Mutation SNP C C G TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr19:22940586C>G uc010xrh.1 - 5 1852 c.1852G>C c.(1852-1854)GAA>CAA p.E618Q NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TTGCCACATTCTTCACATTTG 0.373 NA 16 38 0 0 0 0 CEACAM21 90273 broad.mit.edu 37 19 42085740 42085740 + Missense_Mutation SNP C C A TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr19:42085740C>A uc002ore.3 + 3 555 c.459C>A c.(457-459)AGC>AGA p.S153R CEACAM21_uc002orc.1_RNA|CEACAM21_uc002ord.1_RNA|CEACAM21_uc002orf.2_RNA|CEACAM21_uc002org.3_Missense_Mutation_p.S153R NM_001098506 NP_001091976 Q3KPI0 CEA21_HUMAN carcinoembryonic antigen-related cell adhesion 153 Ig-like C2-type.|Extracellular (Potential). integral to membrane ovary(1) 1 AAGCCAGCAGCACCACAGTCA 0.537 NA 6 75 8.13e-05 9.26e-05 1 0 LILRB4 11006 broad.mit.edu 37 19 55174502 55174502 + Missense_Mutation SNP C C T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr19:55174502C>T uc002qgp.2 + 1 379 c.17C>T c.(16-18)ACG>ATG p.T6M LILRB4_uc002qgo.1_Missense_Mutation_p.T47M|LILRB4_uc002qgq.2_Missense_Mutation_p.T6M|LILRB4_uc010ers.1_Translation_Start_Site|LILRB4_uc002qgr.2_Missense_Mutation_p.T47M|LILRB4_uc010ert.2_Missense_Mutation_p.T47M|LILRB4_uc010eru.2_Missense_Mutation_p.T47M NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, 6 integral to membrane|plasma membrane antigen binding|receptor activity ovary(3) 3 GBM - Glioblastoma multiforme(193;0.035) CCCACCTTCACGGCTCTGCTC 0.602 NA OREG0003670 type=REGULATORY REGION|Gene=LILRB4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 6 105 0 0 0 0 PLCL1 5334 broad.mit.edu 37 2 199011631 199011631 + Missense_Mutation SNP G G A TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr2:199011631G>A uc010fsp.2 + 6 3524 c.3233G>A c.(3232-3234)CGC>CAC p.R1078H PLCL1_uc002uuv.3_Missense_Mutation_p.R999H NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 1078 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) AAGAGCAAGCGCAGCCTGGAA 0.512 NA 12 31 0 0 0 0 FZD7 8324 broad.mit.edu 37 2 202899737 202899737 + Silent SNP C C T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr2:202899737C>T uc002uyw.1 + 1 428 c.367C>T c.(367-369)CTG>TTG p.L123L NM_003507 NP_003498 O75084 FZD7_HUMAN frizzled 7 precursor 123 FZ.|Extracellular (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding skin(2)|ovary(1)|breast(1) 4 GTGTCGTTCTCTGTGCGAGCG 0.642 NA OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 65 0 0 0 0 C2orf57 165100 broad.mit.edu 37 2 232458286 232458286 + Missense_Mutation SNP A A C TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr2:232458286A>C uc002vrz.2 + 1 675 c.624A>C c.(622-624)GAA>GAC p.E208D NM_152614 NP_689827 Q53QW1 CB057_HUMAN hypothetical protein LOC165100 208 ovary(1) 1 Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014) CTGAAGCTGAAGCTTTACCAT 0.582 NA 10 117 0 0 0 0 ZMYND8 23613 broad.mit.edu 37 20 45875011 45875011 + Silent SNP G G A TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr20:45875011G>A uc002xta.1 - 14 2219 c.1965C>T c.(1963-1965)AGC>AGT p.S655S ZMYND8_uc010ghq.1_Silent_p.S332S|ZMYND8_uc010ghr.1_Silent_p.S630S|ZMYND8_uc002xst.1_Silent_p.S583S|ZMYND8_uc002xsu.1_Silent_p.S655S|ZMYND8_uc002xsv.1_Silent_p.S583S|ZMYND8_uc002xsw.1_Silent_p.S407S|ZMYND8_uc002xsx.1_Silent_p.S407S|ZMYND8_uc002xsy.1_Silent_p.S630S|ZMYND8_uc002xsz.1_Silent_p.S592S|ZMYND8_uc010zxy.1_Silent_p.S682S|ZMYND8_uc002xtb.1_Silent_p.S675S|ZMYND8_uc002xss.2_Silent_p.S655S|ZMYND8_uc010zxz.1_Silent_p.S650S|ZMYND8_uc002xtc.1_Silent_p.S675S|ZMYND8_uc002xtd.1_Silent_p.S650S|ZMYND8_uc002xte.1_Silent_p.S655S|ZMYND8_uc010zya.1_Silent_p.S655S|ZMYND8_uc002xtf.1_Silent_p.S675S|ZMYND8_uc002xtg.2_Silent_p.S649S|ZMYND8_uc010ghs.1_Silent_p.S649S NM_012408 NP_036540 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 isoform b 655 protein binding|zinc ion binding central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1) 5 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) CTGCCTTCTCGCTGGCTGGTG 0.502 NA 39 194 0 0 0 0 GART 2618 broad.mit.edu 37 21 34897183 34897183 + Missense_Mutation SNP T T C TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr21:34897183T>C uc002yrx.2 - 11 1326 c.1191A>G c.(1189-1191)ATA>ATG p.I397M GART_uc002yrz.2_Missense_Mutation_p.I397M|GART_uc010gmd.2_Missense_Mutation_p.I59M|GART_uc002yry.2_Missense_Mutation_p.I397M|GART_uc002ysa.2_Missense_Mutation_p.I397M NM_000819 NP_000810 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, 397 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding ovary(1) 1 Pemetrexed(DB00642) CAAGGGCTGATATGAGATTTT 0.488 NA 34 70 0 0 0 0 LARGE 9215 broad.mit.edu 37 22 33780226 33780226 + Silent SNP G G A TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr22:33780226G>A uc003and.3 - 9 1536 c.957C>T c.(955-957)ACC>ACT p.T319T LARGE_uc011amd.1_Silent_p.T118T|LARGE_uc003ane.3_Silent_p.T319T|LARGE_uc010gwp.2_Silent_p.T319T|LARGE_uc011ame.1_Silent_p.T251T|LARGE_uc011amf.1_Silent_p.T319T|LARGE_uc010gwq.1_RNA NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 319 Lumenal (Potential). glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(1;0.219) CCCTCTCTGCGGTCAGCCTCC 0.512 NA 6 152 0 0 0 0 C3orf39 84892 broad.mit.edu 37 3 43122688 43122688 + Missense_Mutation SNP C C G TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr3:43122688C>G uc003cmq.1 - 2 377 c.236G>C c.(235-237)TGC>TCC p.C79S C3orf39_uc003cmr.1_Missense_Mutation_p.C79S NM_032806 NP_116195 Q8NAT1 AGO61_HUMAN glycosyltransferase precursor 79 extracellular region transferase activity, transferring glycosyl groups ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718) CTTGAAGCGGCAGATGCGGTC 0.617 NA 13 32 0 0 0 0 ARL13B 200894 broad.mit.edu 37 3 93769695 93769695 + Missense_Mutation SNP G G A TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr3:93769695G>A uc003drc.2 + 9 1455 c.1169G>A c.(1168-1170)AGA>AAA p.R390K ARL13B_uc010hop.2_Missense_Mutation_p.R241K|ARL13B_uc003drd.2_Missense_Mutation_p.R283K|ARL13B_uc003dre.2_Missense_Mutation_p.R375K|ARL13B_uc003drf.2_Missense_Mutation_p.R390K|ARL13B_uc003drg.2_Missense_Mutation_p.R287K NM_182896 NP_878899 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 2-like 1 isoform 1 390 Pro-rich. GTP binding 0 AAAGTCACTAGACTTCCAAAA 0.368 NA 13 43 0 0 0 0 UROC1 131669 broad.mit.edu 37 3 126224562 126224562 + Silent SNP G G A TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr3:126224562G>A uc003eiz.1 - 8 827 c.795C>T c.(793-795)TGC>TGT p.C265C UROC1_uc010hsi.1_Silent_p.C265C NM_144639 NP_653240 Q96N76 HUTU_HUMAN urocanase domain containing 1 isoform 1 265 histidine catabolic process cytosol urocanate hydratase activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.17) TCACACCGATGCACCCCACGA 0.413 NA 15 37 0 0 0 0 MED12L 116931 broad.mit.edu 37 3 150908705 150908705 + Missense_Mutation SNP A A T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr3:150908705A>T uc003eyp.2 + 13 1993 c.1955A>T c.(1954-1956)GAT>GTT p.D652V MED12L_uc011bnz.1_Missense_Mutation_p.D512V|MED12L_uc003eyn.2_Missense_Mutation_p.D652V|MED12L_uc003eyo.2_Missense_Mutation_p.D652V NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 652 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) AAGGACCATGATGTGAAAATG 0.483 NA 11 35 0 0 0 0 PLD1 5337 broad.mit.edu 37 3 171394576 171394576 + Missense_Mutation SNP C C T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr3:171394576C>T uc003fhs.2 - 18 2160 c.2044G>A c.(2044-2046)GCC>ACC p.A682T PLD1_uc003fht.2_Missense_Mutation_p.A644T|PLD1_uc003fhu.3_5'Flank|PLD1_uc003fhv.1_Missense_Mutation_p.A7T NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 682 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) ACTGCAGAGGCAATGTCATGC 0.527 NA 13 78 0 0 0 0 LRRC15 131578 broad.mit.edu 37 3 194081302 194081302 + Silent SNP G G A rs143343570 byFrequency TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr3:194081302G>A uc003ftu.2 - 2 557 c.471C>T c.(469-471)CAC>CAT p.H157H LRRC15_uc003ftt.2_Silent_p.H163H NM_130830 NP_570843 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 isoform b 157 Extracellular (Potential).|LRR 5. integral to membrane ovary(3) 3 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) GGTGGTTGCCGTGCAACTGCA 0.572 NA 31 251 0 0 0 0 MAP9 79884 broad.mit.edu 37 4 156274418 156274418 + Missense_Mutation SNP C C A TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr4:156274418C>A uc003ios.2 - 11 1719 c.1455G>T c.(1453-1455)AAG>AAT p.K485N MAP9_uc011cin.1_Missense_Mutation_p.K460N|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Missense_Mutation_p.K484N NM_001039580 NP_001034669 Q49MG5 MAP9_HUMAN aster-associated protein 485 Potential. cell division|mitosis cytoplasm|microtubule|spindle ovary(1)|central_nervous_system(1) 2 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) CAGCTATTTTCTTTGCTTCCT 0.353 NA 10 53 1.77e-08 2.12e-08 1 0 HEATR7B2 133558 broad.mit.edu 37 5 41065470 41065470 + Silent SNP G G A TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr5:41065470G>A uc003jmj.3 - 4 814 c.324C>T c.(322-324)TTC>TTT p.F108F NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 108 binding ovary(6)|central_nervous_system(2) 8 CAAGCACAACGAATTCATCTG 0.418 NA 12 18 0 0 0 0 APC 324 broad.mit.edu 37 5 112173816 112173816 + Missense_Mutation SNP A A T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr5:112173816A>T uc010jby.2 + 16 2905 c.2525A>T c.(2524-2526)GAT>GTT p.D842V APC_uc011cvt.1_Missense_Mutation_p.D824V|APC_uc003kpz.3_Missense_Mutation_p.D842V|APC_uc003kpy.3_Missense_Mutation_p.D842V|APC_uc010jbz.2_Missense_Mutation_p.D559V|APC_uc010jca.2_Missense_Mutation_p.D142V NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 842 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GGAAGCTTAGATAGTTCTCGT 0.403 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 17 43 0 0 0 0 RAD50 10111 broad.mit.edu 37 5 131911505 131911505 + Silent SNP C C T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr5:131911505C>T uc003kxi.2 + 3 637 c.250C>T c.(250-252)CTG>TTG p.L84L RAD50_uc003kxg.1_5'UTR|RAD50_uc003kxh.2_5'UTR NM_005732 NP_005723 Q92878 RAD50_HUMAN RAD50 homolog isoform 1 84 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding lung(2)|ovary(1)|skin(1) 4 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCAGATTCGTCTGCAATTTCG 0.378 NA Homologous_recombination 12 46 0 0 0 0 PPP2R2B 5521 broad.mit.edu 37 5 146077680 146077680 + Missense_Mutation SNP C C T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr5:146077680C>T uc003loe.2 - 3 721 c.196G>A c.(196-198)GAA>AAA p.E66K PPP2R2B_uc010jgm.2_Missense_Mutation_p.E55K|PPP2R2B_uc003log.3_Missense_Mutation_p.E66K|PPP2R2B_uc003lof.3_Missense_Mutation_p.E66K|PPP2R2B_uc003loi.3_Missense_Mutation_p.E69K|PPP2R2B_uc003loh.3_Missense_Mutation_p.E66K|PPP2R2B_uc003loj.3_Missense_Mutation_p.E46K|PPP2R2B_uc003lok.3_Missense_Mutation_p.E55K|PPP2R2B_uc011dbu.1_Missense_Mutation_p.E72K|PPP2R2B_uc011dbv.1_Missense_Mutation_p.E124K NM_004576 NP_004567 Q00005 2ABB_HUMAN beta isoform of regulatory subunit B55, protein 66 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(1)|prostate(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACATTGTATTCACCCCTACGA 0.373 NA 33 52 0 0 0 0 WWC1 23286 broad.mit.edu 37 5 167812359 167812359 + Nonsense_Mutation SNP C C T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr5:167812359C>T uc003lzu.2 + 3 466 c.373C>T c.(373-375)CAG>TAG p.Q125* WWC1_uc003lzv.2_Nonsense_Mutation_p.Q125*|WWC1_uc011den.1_Nonsense_Mutation_p.Q125* NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 isoform 3 125 Potential. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity ovary(2)|skin(2)|breast(1) 5 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) GGAGCTTGCACAGCAGGAGTA 0.587 NA 16 31 0 0 0 0 HIST1H4E 8367 broad.mit.edu 37 6 26205057 26205057 + Missense_Mutation SNP T T G TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr6:26205057T>G uc003ngy.2 + 1 185 c.185T>G c.(184-186)TTT>TGT p.F62C NM_003545 NP_003536 P62805 H4_HUMAN histone cluster 1, H4e 62 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 all_hematologic(11;0.196) CTGAAGGTGTTTCTGGAAAAC 0.567 NA 13 88 0 0 0 0 C6orf27 80737 broad.mit.edu 37 6 31743155 31743155 + Missense_Mutation SNP G G T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr6:31743155G>T uc011dog.1 - 4 803 c.565C>A c.(565-567)CCT>ACT p.P189T C6orf27_uc003nxd.2_5'UTR|C6orf27_uc011doh.1_RNA NM_025258 NP_079534 Q9Y334 G7C_HUMAN G7c protein precursor 189 extracellular region ovary(3) 3 AGGAGGTGAGGGTGTGGCTGC 0.612 NA 18 31 5.35e-07 6.35e-07 1 0 FAM83B 222584 broad.mit.edu 37 6 54804590 54804590 + Missense_Mutation SNP G G A TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr6:54804590G>A uc003pck.2 + 5 937 c.821G>A c.(820-822)AGA>AAA p.R274K NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 274 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) GAAGAATTTAGAACTCTCTAT 0.423 NA 11 60 0 0 0 0 MDN1 23195 broad.mit.edu 37 6 90497660 90497660 + Missense_Mutation SNP G G A TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr6:90497660G>A uc003pnn.1 - 8 1363 c.1247C>T c.(1246-1248)CCT>CTT p.P416L MDN1_uc003pno.1_5'Flank|MDN1_uc003pnp.1_Missense_Mutation_p.P416L NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 416 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CTCCAAGAGAGGGATCAGCAC 0.408 NA 25 36 0 0 0 0 MIOS 54468 broad.mit.edu 37 7 7636027 7636027 + Missense_Mutation SNP G G A TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr7:7636027G>A uc003srf.2 + 11 2644 c.2336G>A c.(2335-2337)CGA>CAA p.R779Q MIOS_uc003srg.2_Missense_Mutation_p.R314Q|MIOS_uc010ktq.2_Missense_Mutation_p.R174Q NM_019005 NP_061878 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog 779 0 CCTGGCTGTCGAAAACCACTT 0.428 NA 11 154 0 0 0 0 SEMA3C 10512 broad.mit.edu 37 7 80435066 80435066 + Missense_Mutation SNP G G A TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr7:80435066G>A uc003uhj.2 - 7 1109 c.547C>T c.(547-549)CTT>TTT p.L183F SEMA3C_uc011kgw.1_Missense_Mutation_p.L201F|SEMA3C_uc011kgx.1_Missense_Mutation_p.L35F NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor 183 Sema. immune response|response to drug membrane receptor activity ovary(1) 1 CCAGAGAAAAGCTCCTCATCT 0.323 NA 17 34 0 0 0 0 PCLO 27445 broad.mit.edu 37 7 82387992 82387992 + Missense_Mutation SNP T T G TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr7:82387992T>G uc003uhx.2 - 25 15617 c.15328A>C c.(15328-15330)ACC>CCC p.T5110P NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 5033 C2 2. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CCAATCAAGGTCTTTTTCATA 0.333 NA 32 107 0 0 0 0 PODXL 5420 broad.mit.edu 37 7 131194197 131194197 + Missense_Mutation SNP C C T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr7:131194197C>T uc003vqw.3 - 4 1208 c.950G>A c.(949-951)AGC>AAC p.S317N PODXL_uc003vqx.3_Missense_Mutation_p.S285N NM_001018111 NP_001018121 O00592 PODXL_HUMAN podocalyxin-like isoform 1 precursor 317 Thr-rich.|Extracellular (Potential). cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle breast(2)|pancreas(1) 3 Melanoma(18;0.162) TGCTGTGGGGCTGGAGCTCAT 0.602 NA 45 85 0 0 0 0 LONRF1 91694 broad.mit.edu 37 8 12586780 12586780 + Missense_Mutation SNP G G C TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr8:12586780G>C uc003wwd.1 - 9 1813 c.1750C>G c.(1750-1752)CTC>GTC p.L584V LONRF1_uc011kxv.1_Missense_Mutation_p.L173V|LONRF1_uc010lsp.1_Missense_Mutation_p.L184V NM_152271 NP_689484 Q17RB8 LONF1_HUMAN LON peptidase N-terminal domain and ring finger 584 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding ovary(1) 1 READ - Rectum adenocarcinoma(644;0.236) AATACATGGAGAGGGCAAGGC 0.388 NA 19 59 0 0 0 0 PURG 29942 broad.mit.edu 37 8 30890027 30890027 + Nonsense_Mutation SNP C C T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr8:30890027C>T uc003xin.2 - 1 291 c.272G>A c.(271-273)TGG>TAG p.W91* WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Nonsense_Mutation_p.W91* NM_013357 NP_037489 Q9UJV8 PURG_HUMAN purine-rich element binding protein G isoform A 91 By similarity. nucleus DNA binding 0 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) TCTCCCTATCCAGACTTCGGC 0.547 NA 21 36 0 0 0 0 TM7SF4 81501 broad.mit.edu 37 8 105367322 105367322 + Missense_Mutation SNP G G A TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr8:105367322G>A uc003ylx.1 + 3 1296 c.1247G>A c.(1246-1248)CGC>CAC p.R416H NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 416 Cytoplasmic. osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) GAGAGGAAGCGCATCCAATAT 0.443 NA 5 83 0 0 0 0 EIF3H 8667 broad.mit.edu 37 8 117671059 117671059 + Silent SNP G G A TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr8:117671059G>A uc003yoa.2 - 3 476 c.450C>T c.(448-450)CTC>CTT p.L150L EIF3H_uc003yob.2_Silent_p.L164L|EIF3H_uc011lhz.1_Silent_p.L150L NM_003756 NP_003747 O15372 EIF3H_HUMAN eukaryotic translation initiation factor 3, 150 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(3) 3 all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172) AACCATAAATGAGAACGACAG 0.413 NA 24 107 0 0 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71503904 71503904 + Missense_Mutation SNP T T A TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr9:71503904T>A uc004agu.2 + 7 631 c.326T>A c.(325-327)ATC>AAC p.I109N PIP5K1B_uc011lrq.1_Missense_Mutation_p.I109N|PIP5K1B_uc004agv.2_RNA NM_003558 NP_003549 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 109 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding stomach(1) 1 Lung(182;0.133) TAGTATTCCATCTGCAGTGAA 0.383 NA 41 68 0 0 0 0 AGTPBP1 23287 broad.mit.edu 37 9 88293287 88293287 + Silent SNP A A T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr9:88293287A>T uc011ltd.1 - 4 285 c.252T>A c.(250-252)CTT>CTA p.L84L AGTPBP1_uc011ltc.1_Silent_p.L26L|AGTPBP1_uc010mqc.2_Silent_p.L84L|AGTPBP1_uc011lte.1_Silent_p.L136L NM_015239 NP_056054 Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 84 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(4)|large_intestine(2)|skin(1) 7 TTAAGATATTAAGTGTAGTTT 0.308 NA 4 15 0 0 0 0 C9orf156 51531 broad.mit.edu 37 9 100672670 100672670 + Missense_Mutation SNP T T C TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr9:100672670T>C uc004axv.1 - 4 715 c.638A>G c.(637-639)CAT>CGT p.H213R C9orf156_uc004axw.1_Missense_Mutation_p.H110R|C9orf156_uc004axx.1_Missense_Mutation_p.H67R|C9orf156_uc010msq.1_Missense_Mutation_p.H110R NM_016481 NP_057565 Q9BU70 NAP1_HUMAN Nef associated protein 1 213 interspecies interaction between organisms hydrolase activity 0 Acute lymphoblastic leukemia(62;0.158) CTTAGTGCTATGGTGGGGTTG 0.473 NA 17 42 0 0 0 0 ODF2 4957 broad.mit.edu 37 9 131221864 131221864 + Silent SNP G G A TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr9:131221864G>A uc011mbd.1 + 3 362 c.51G>A c.(49-51)AAG>AAA p.K17K ODF2_uc011maz.1_Silent_p.K17K|ODF2_uc011mba.1_5'UTR|ODF2_uc010myb.2_5'UTR|ODF2_uc011mbb.1_5'UTR|ODF2_uc011mbc.1_5'UTR|ODF2_uc004bva.2_5'UTR|ODF2_uc004bvb.2_5'UTR|ODF2_uc011mbe.1_5'UTR|ODF2_uc004bvc.2_5'UTR|ODF2_uc010myc.2_Silent_p.K17K|ODF2_uc011mbf.1_Silent_p.K17K|ODF2_uc004bvd.3_Silent_p.K17K|ODF2_uc004bve.2_Silent_p.K17K NM_002540 NP_002531 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 isoform 1 17 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity ovary(1) 1 CGTGTGGGAAGAACGGAGTAA 0.483 NA 9 13 0 0 0 0 FANCB 2187 broad.mit.edu 37 X 14883285 14883285 + Silent SNP A A G TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chrX:14883285A>G uc004cwg.1 - 3 616 c.348T>C c.(346-348)AAT>AAC p.N116N FANCB_uc004cwh.1_Silent_p.N116N NM_001018113 NP_001018123 Q8NB91 FANCB_HUMAN Fanconi anemia complementation group B 116 DNA repair nucleoplasm lung(1) 1 Hepatocellular(33;0.183) TTTCAAATTTATTAGTACTGT 0.318 NA Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 15 48 0 0 0 0 CXorf21 80231 broad.mit.edu 37 X 30577998 30577998 + Missense_Mutation SNP A A T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chrX:30577998A>T uc004dcg.1 - 3 751 c.475T>A c.(475-477)TCT>ACT p.S159T NM_025159 NP_079435 Q9HAI6 CX021_HUMAN hypothetical protein LOC80231 159 ovary(1) 1 GGAATCTCAGATGACTTCAGC 0.453 NA 22 54 0 0 0 0 FAM47C 442444 broad.mit.edu 37 X 37026592 37026592 + Missense_Mutation SNP C C T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chrX:37026592C>T uc004ddl.1 + 1 123 c.109C>T c.(109-111)CGC>TGC p.R37C NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 37 ovary(3) 3 CAAGCACAGGCGCCTGAGGTT 0.617 NA 17 25 0 0 0 0 ZNF630 57232 broad.mit.edu 37 X 47918974 47918974 + Missense_Mutation SNP G G A TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chrX:47918974G>A uc004div.3 - 5 1109 c.857C>T c.(856-858)ACT>ATT p.T286I ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.T162I NM_001037735 NP_001032824 Q2M218 ZN630_HUMAN zinc finger protein 630 286 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|lung(1) 2 TTTCTCTCCAGTATGAATTCT 0.388 NA 32 100 0 0 0 0 HEPH 9843 broad.mit.edu 37 X 65476116 65476116 + Missense_Mutation SNP A A G TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chrX:65476116A>G uc011moz.1 + 17 2909 c.2849A>G c.(2848-2850)GAT>GGT p.D950G HEPH_uc004dwn.2_Missense_Mutation_p.D950G|HEPH_uc004dwo.2_Missense_Mutation_p.D680G|HEPH_uc010nkr.2_Missense_Mutation_p.D758G|HEPH_uc011mpa.1_Missense_Mutation_p.D950G|HEPH_uc010nks.2_Missense_Mutation_p.D239G NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 947 Extracellular (Potential).|Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 GGGTCCCAGGATCCAGGCAGT 0.413 NA 23 87 0 0 0 0 PIGK 10026 broad.mit.edu 37 1 77632420 77632420 + Frame_Shift_Del DEL A A - TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr1:77632420delA uc001dhk.2 - 5 516 c.471delT c.(469-471)ATTfs p.I157fs PIGK_uc010orj.1_Frame_Shift_Del_p.I81fs|PIGK_uc009wbx.2_Frame_Shift_Del_p.I63fs|PIGK_uc001dhl.1_Frame_Shift_Del_p.I157fs NM_005482 NP_005473 Q92643 GPI8_HUMAN phosphatidylinositol glycan anchor biosynthesis, 157 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis GPI-anchor transamidase complex cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding ovary(2)|pancreas(1) 3 TATAAATTAGAATATTGCTTC 0.333 NA 18 33 --- --- --- --- NA NA NA NA RBMXL1 494115 broad.mit.edu 37 1 89448604 89448605 + Frame_Shift_Ins INS - - GG TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr1:89448604_89448605insGG uc009wcx.2 - 3 1621_1622 c.905_906insCC c.(904-906)CCAfs p.P302fs CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Frame_Shift_Ins_p.P302fs NM_001162536 NP_001156008 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 302 Ser-rich. nucleotide binding|RNA binding 0 CACCATAAGATGGCGGGGGCCC 0.475 NA 8 311 --- --- --- --- NA NA NA NA USP21 27005 broad.mit.edu 37 1 161132797 161132798 + Frame_Shift_Ins INS - - T rs147410329 TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr1:161132797_161132798insT uc010pke.1 + 7 1359_1360 c.982_983insT c.(982-984)CTTfs p.L328fs USP21_uc010pkc.1_Frame_Shift_Ins_p.L328fs|USP21_uc010pkd.1_Frame_Shift_Ins_p.L328fs|USP21_uc010pkf.1_Frame_Shift_Ins_p.L328fs NM_001014443 NP_001014443 Q9UK80 UBP21_HUMAN ubiquitin-specific protease 21 328 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1)|prostate(1)|breast(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) TCCACCGATACTTGCCAATGGT 0.594 NA 40 88 --- --- --- --- NA NA NA NA IAH1 285148 broad.mit.edu 37 2 9628388 9628388 + Frame_Shift_Del DEL T T - TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr2:9628388delT uc002qzr.2 + 6 703 c.677delT c.(676-678)CTGfs p.L226fs IAH1_uc002qzs.2_Frame_Shift_Del_p.L113fs|IAH1_uc002qzt.2_Frame_Shift_Del_p.L113fs|IAH1_uc010yiz.1_RNA NM_001039613 NP_001034702 Q2TAA2 IAH1_HUMAN isoamyl acetate-hydrolyzing esterase 1 homolog 226 lipid catabolic process hydrolase activity, acting on ester bonds 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CTACCTTTGCTGCTTCCTTAC 0.433 NA 36 84 --- --- --- --- NA NA NA NA CD207 50489 broad.mit.edu 37 2 71060135 71060136 + Frame_Shift_Ins INS - - C TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr2:71060135_71060136insC uc002shg.2 - 4 659_660 c.612_613insG c.(610-615)GGGAACfs p.G204fs NM_015717 NP_056532 Q9UJ71 CLC4K_HUMAN CD207 antigen, langerin 204_205 C-type lectin.|Extracellular (Potential). defense response to virus endocytic vesicle|integral to membrane mannose binding ovary(1)|lung(1) 2 TAATAGAAGTTCCCCTTGAAGT 0.446 NA 21 61 --- --- --- --- NA NA NA NA PLSCR1 5359 broad.mit.edu 37 3 146246480 146246494 + In_Frame_Del DEL ACTGGCTGATTATAT ACTGGCTGATTATAT - rs147509085 byFrequency TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr3:146246480_146246494delACTGGCTGATTATAT uc003evx.3 - 4 607_621 c.219_233delATATAATCAGCCAGT c.(217-234)GTATATAATCAGCCAGTT>GTT p.73_78VYNQPV>V PLSCR1_uc003evy.3_In_Frame_Del_p.66_71VYNQPV>V|PLSCR1_uc011bnn.1_Intron|PLSCR1_uc003evz.3_Intron|PLSCR1_uc003ewa.2_In_Frame_Del_p.73_78VYNQPV>V NM_021105 NP_066928 O15162 PLS1_HUMAN phospholipid scramblase 1 73_78 Cytoplasmic. phospholipid scrambling|platelet activation|response to virus integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding ovary(2) 2 TGCAGCTCCAACTGGCTGATTATATACTGGCTGAT 0.521 NA 9 124 --- --- --- --- NA NA NA NA FAT1 2195 broad.mit.edu 37 4 187629852 187629853 + Frame_Shift_Ins INS - - T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr4:187629852_187629853insT uc003izf.2 - 2 1317_1318 c.1129_1130insA c.(1129-1131)AGTfs p.S377fs FAT1_uc010iso.1_Frame_Shift_Ins_p.S377fs NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 377 Extracellular (Potential).|Cadherin 3. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 AGCAAATTCACTTATTTCTGCT 0.431 NA HNSCC(5;0.00058) 36 50 --- --- --- --- NA NA NA NA GTF3C6 112495 broad.mit.edu 37 6 111288940 111288941 + Frame_Shift_Ins INS - - T rs41289884 byFrequency TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 16b7fd85-3664-4c4a-9a43-48b107dbcf7f 87d31453-f5b2-412a-b996-83d5b9d233ec g.chr6:111288940_111288941insT uc003pum.2 + 6 799_800 c.589_590insT c.(589-591)ATAfs p.I197fs NM_138408 NP_612417 Q969F1 TF3C6_HUMAN general transcription factor IIIC, polypeptide 197 transcription factor TFIIIC complex DNA binding|protein binding 0 all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575) OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186) TCTTATTGATATACCTTCTGAG 0.371 NA 35 78 --- --- --- --- NA NA NA NA